Spina Bifida Research Bibliography

Aggressive surgical management of patients with Chiari II malformation and brainstem dysfunction.

2012-01-30T12:04:00.000-06:00

Rahman M, Perkins LA, Pincus DW. Aggressive surgical management of patients with Chiari II malformation and brainstem dysfunction. Pediatric Neurosurgery. 2009;45(5):337-44. 11.

BACKGROUND/AIMS:
Chiari II malformation represents a group of developmental abnormalities involving the caudal displacement of the cervicomedullary junction, pons, fourth ventricle, and medulla. This constellation of malformations is strongly associated with myelomeningocele (MM) and is a known cause of neurologic deterioration in older MM patients. We describe the evaluation and management of 4 adult MM patients who presented with brainstem compression and a retroflexed odontoid who were subject to aggressive surgical management including occipitocervical (OC) fusion with good clinical results.

METHODS:
Four MM patients who underwent OC fusion for new-onset brainstem dysfunction and myelopathy were identified in the practice of the principal investigator (D.W.P.) from 2003 to 2008.

RESULTS:
The initial evaluation of these patients included consideration of other diagnoses, such as hydrocephalus due to shunt malfunction and tethered cord. These patients were treated with aggressive surgical management. In some cases, multiple surgeries were performed. All 4 patients were treated with cervical decompression and OC fixation and initially had good outcomes. No patients required transoral decompression. Three of the 4 had stable improvement at their last follow-up appointment (mean follow-up of 9 months).

CONCLUSION:
Late deterioration in older MM patients may be secondary to brainstem or cervical spinal cord compression from ventral odontoid compression and Chiari II malformation, hydrocephalus, hydromyelia, or tethered cord. These patients may benefit from more than one surgery. Posterior decompression and OC fusion can avoid a morbid transoral odontoid resection, greatly improve patients' symptoms and prevent further neurologic decline.

PMID: 19907196

Symptom recurrence after suboccipital decompression for pediatric Chiari I malformation: analysis of 256 consecutive cases.

2012-01-30T12:02:00.000-06:00

McGirt MJ, Attenello FJ, Atiba A, Garces-Ambrossi G, Datoo G, Weingart JD, Carson B, Jallo GI. Symptom recurrence after suboccipital decompression for pediatric Chiari I malformation: analysis of 256 consecutive cases. Childs Nerv Syst. 2008 Nov;24(11):1333-9.

OBJECTIVE:
Symptom recurrence remains a problem for some patients after surgical decompression for Chiari I malformation. We set out to identify variables at presentation that could identify subgroups most likely to experience incomplete symptom relief after hindbrain decompression for Chiari I malformation.

MATERIALS AND METHODS:
We retrospectively reviewed the records of all pediatric patients undergoing first-time suboccipital decompression for Chiari I malformation over a 10-year period. Measured outcomes included (1) persistence or recurrence of symptoms regardless of severity and (2) need for revision decompression.

RESULTS:
Two hundred fifty-six children (10 5 years old) underwent surgery for Chiari I malformation and were followed up for a mean of 27 months. Presenting symptoms included headache in 192 (75%) patients and brainstem or cranial nerve symptoms in 68 (27%) patients. Fifty-seven (22%) patients experienced mild to moderate symptom recurrence. Nineteen (7%) patients required revision decompression for significant symptom recurrence. Headache was 70% more likely to persist or recur versus cranial nerve or brainstem symptoms (relative risk 1.70, p < 0.05). Vertigo and frontal headache independently increased the odds of symptom recurrence 2.9- and 1.5-fold, respectively. Each increasing year of preoperative headache duration was independently associated with 15% increase in likelihood of symptom persistence (p < 0.05). Severe tonsilar ectopia (caudal to C2 lamina) was twice as likely to require revision decompression (14% versus 6%).CONCLUSION:In our experience, recurrence of mild symptomatology not severe enough to justify revision surgery may occur in nearly a fifth of patients after surgery. Headache was more likely to recur than objective cranial nerve or brainstem symptoms. Increasing duration of headaches, frontal headaches, and vertigo may be more refractory symptoms of Chiari I malformation.PMID: 18516609

Brainstem dysfunction in chiari malformation presenting as profound hypoglycemia: presentation of four cases, review of the literature, and conjecture as to mechanism.

2012-01-30T11:59:00.000-06:00

Rekate HL, Nadkarni TD, Teaford PA, Wallace D.
Brainstem dysfunction in chiari malformation presenting as profound hypoglycemia: presentation of four cases, review of the literature, and conjecture as to mechanism. Neurosurgery. 1999 Aug;45(2):386-91. Review.

OBJECTIVE:
We report four patients whose cases resulted in our observation that profound hypoglycemia resulting from intermittent hyperinsulinism plays a significant role in patients with brainstem dysfunction from Chiari I or II malformations who have intermittent autonomic dysfunction ("blue spells").

METHODS:
The records of four children with severe brainstem dysfunction associated with hindbrain herniation (Chiari I or II malformation) were reviewed retrospectively. Each patient had severe lower cranial nerve dysfunction that required tracheotomy and feeding tube placement. After we found that profound hypoglycemia had occurred during a spell of autonomic dysfunction in one patient, the charts of the other three patients were reviewed for evidence of hypoglycemia. Now, whenever one of them has evidence of autonomic dysfunction, prospective studies of glucose and insulin levels are performed. Three of the patients had Chiari II malformation in association with myelomeningocele, and one patient had a Chiari I malformation resulting from Pfeiffer's syndrome.

RESULTS:
Hypoglycemia occurred in these patients episodically, and usually when their shunts were functioning. The hypoglycemia was associated with hyperinsulinemia in each patient. The brainstem structures of these children (presumably the dorsal motor nuclei of the vagus) were extremely sensitive to changes in local or regional intracranial pressure. These changes were triggered by intermittent shunt failure, agitation from pain, abdominal distention from constipation, and retention of CO2. In patients with Chiari malformations, even mild increases in intracranial pressure lead to brainstem dysfunction. One possible explanation is that pressure on the deformed Xth cranial nerve nuclei may lead to insulin release and life-threatening hypoglycemia. Continuous-drip feeds are necessary to prevent this complication.

CONCLUSION:
Patients with severe intermittent brainstem dysfunction after decompression of Chiari I or Chiari II malformations should have laboratory studies of glucose levels performed at the time of the episodes to rule out hypoglycemia.

PMID: 10449086

Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study.

2012-01-18T11:47:00.000-06:00

Agopian AJ, Canfield MA, Olney RS, Lupo PJ, Ramadhani T, Mitchell LE, Shaw GM, Moore CA; (2011) Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study. Am J Med Genet A. 2011 Dec 2.

Spina bifida refers to a collection of neural tube defects, including myelomeningocele, meningocele, and myelocele (SB(M) ), as well as lipomyelomeningocele and lipomeningocele (SB(L) ). Maternal race/ethnicity has been associated with an increased risk for spina bifida among offspring. To better understand this relationship, we evaluated different spina bifida subtypes (SB(M) vs. SB(L) ) and sub-phenotypes (anatomic level or presence of additional malformations) by maternal race/ethnicity using data from the National Birth Defects Prevention Study. This study is a large, multisite, population-based study of nonsyndromic birth defects. Prevalence estimates were obtained using data from spina bifida cases (live births, fetal deaths, and elective terminations) and total live births in the study regions. From October 1997 through December 2005, 1,046 infants/fetuses with spina bifida were delivered, yielding a prevalence of 3.06 per 10,000 live births. Differences in the prevalences of SB(M) vs. SB(L) , isolated versus non-isolated SB(M) , and lesion level in isolated SB(M) among case offspring were observed by maternal race/ethnicity. Compared to non-Hispanic (NH) White mothers, offspring of Hispanic mothers had higher prevalences of each subtype and most sub-phenotypes, while offspring of NH Black mothers generally had lower prevalences. Furthermore, differences in race/ethnicity among those with isolated SB(M) were more pronounced by sex. For instance, among male offspring, the prevalence of isolated SB(M) was significantly higher for those with Hispanic mothers compared to NH White mothers [prevalence ratio (PR): 1.55, 95% confidence interval: 1.23-1.95]. These findings provide evidence that certain spina bifida subtypes and sub-phenotypes may be etiologically distinct.

PMID:
22140002

A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

2012-01-18T11:42:00.000-06:00

Marini NJ, Hoffmann TJ, Lammer EJ, Hardin J, Lazaruk K, Stein JB, Gilbert DA, Wright C, Lipzen A, Pennacchio LA, Carmichael SL, Witte JS, Shaw GM, Rine J. (2011) A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. PLoS One. 2011;6(11):e28408.

Despite compelling epidemiological evidence that folic acid supplements reduce the frequency of neural tube defects (NTDs) in newborns, common variant association studies with folate metabolism genes have failed to explain the majority of NTD risk. The contribution of rare alleles as well as genetic interactions within the folate pathway have not been extensively studied in the context of NTDs. Thus, we sequenced the exons in 31 folate-related genes in a 480-member NTD case-control population to identify the full spectrum of allelic variation and determine whether rare alleles or obvious genetic interactions within this pathway affect NTD risk. We constructed a pathway model, predetermined independent of the data, which grouped genes into coherent sets reflecting the distinct metabolic compartments in the folate/one-carbon pathway (purine synthesis, pyrimidine synthesis, and homocysteine recycling to methionine). By integrating multiple variants based on these groupings, we uncovered two provocative, complex genetic risk signatures. Interestingly, these signatures differed by race/ethnicity: a Hispanic risk profile pointed to alterations in purine biosynthesis, whereas that in non-Hispanic whites implicated homocysteine metabolism. In contrast, parallel analyses that focused on individual alleles, or individual genes, as the units by which to assign risk revealed no compelling associations. These results suggest that the ability to layer pathway relationships onto clinical variant data can be uniquely informative for identifying genetic risk as well as for generating mechanistic hypotheses. Furthermore, the identification of ethnic-specific risk signatures for spina bifida resonated with epidemiological data suggesting that the underlying pathogenesis may differ between Hispanic and non-Hispanic groups.

PMID: 22140583

Prospective memory in adults with spina bifida.

2012-01-18T11:15:00.001-06:00

Dennis M, Nelson R, Jewell D, Fletcher JM. (2010) Prospective memory in adults with spina bifida. Childs Nerv Syst. 2010 Dec;26(12):1749-55.

INTRODUCTION:
Individuals with neurodevelopmental disorders have been observed to show accelerated cognitive aging or even dementia as early as 30 and 40 years of age. Memory deficits are an important component of age-related cognitive loss.

METHODS:
In this study, we investigated prospective memory, which is often impaired in aging, in a group of 32 adults with spina bifida meningomyelocele (SBM), including members of the oldest living cohort successfully treated with shunts to divert excess cerebrospinal fluid, ventriculomegaly, and hydrocephalus, who are now around 50 years of age. Seventeen typically developing adults provided a comparison group.

RESULTS:
The SBM and comparison groups differed in the prospective memory total score as well as in both time-based and event-based subscores. Prospective memory was impaired in both older and younger individuals with SBM. However, the percentage of individuals with impaired or poor prospective memory was three times higher in the older SBM group than in the younger SBM group. The results are considered in relation to specific features of the complex brain reorganization in SBM.

PMID:
20393850

Working memory and information processing speed in children with myelomeningocele and shunted hydrocephalus: analysis of the children's paced auditory serial addition test.

2012-01-18T11:08:00.000-06:00

Boyer KM, Yeates KO, Enrile BG. (2006) Working memory and information processing speed in children with myelomeningocele and shunted hydrocephalus: analysis of the children's paced auditory serial addition test. J Int Neuropsychol Soc. 2006 May;12(3):305-13.

Working memory and information processing speed were examined in children with myelomeningocele and shunted hydrocephalus using the Children's Paced Auditory Serial Addition Test (CHIPASAT). The CHIPASAT was administered to 31 children with myelomeningocele and shunted hydrocephalus and 27 healthy siblings, all between 8 and 15 years of age. They also completed other standardized measures of working memory and processing speed. Children with myelomeningocele made fewer correct responses than siblings, although the magnitude of group differences declined as the rate of stimulus presentation increased. Children with myelomeningocele also made fewer consecutive correct responses and were more likely to provide correct but nonconsecutive responses, suggesting that they responded in a way that circumvents the working memory demands of the task. Standardized measures of processing speed and working memory accounted for significant variance in CHIPASAT performance after controlling for age, group membership, math skill, and general intellectual functioning. The results indicate that children with myelomeningocele and shunted hydrocephalus display deficits in working memory and information processing speed, and suggest that the CHIPASAT may provide a valid measure of these skills.

PMID: 16903123

Arithmetic skills and their cognitive correlates in children with acquired and congenital brain disorder.

2012-01-18T11:05:00.000-06:00

Ayr LK, Yeates KO, Enrile BG.(2005) Arithmetic skills and their cognitive correlates in children with acquired and congenital brain disorder. J Int Neuropsychol Soc. 2005 May;11(3):249-62.

Arithmetic skills and their cognitive correlates were studied in 24 children with myelomeningocele and shunted hydrocephalus (MM), 27 children with severe traumatic brain injuries (TBI), and 26 children with orthopedic injuries (OI). Their average age was 11.56 years (SD = 2.36). They completed the WRAT-3 Arithmetic subtest and a subtraction task consisting of 20 problems of varying difficulty, as well as measures of working memory, declarative memory, processing speed, planning skills, and visuospatial abilities. The MM group performed more poorly on the WRAT-3 Arithmetic subtest and the subtraction task than the other two groups, which did not differ from each other on either measure. The groups did not differ in the number of math fact errors or visual-spatial errors on the subtraction task, but the MM group made more procedural errors than the OI group. The five cognitive abilities explained substantial variance in performance on both arithmetic tests; processing speed, working memory, declarative memory, and planning accounted for unique variance. Exploratory analyses showed that the cognitive correlates of arithmetic skills varied across groups and ages. Congenital and acquired brain disorders are associated with distinct patterns of arithmetic skills, which are related to specific cognitive abilities.

PMID: 15892901

The cognitive phenotype of spina bifida meningomyelocele.

2012-01-18T11:00:00.000-06:00

Dennis M, Barnes MA. (2010) The cognitive phenotype of spina bifida meningomyelocele. Dev Disabil Res Rev. 2010;16(1):31-9.

A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory modality, and material, including studies from our laboratory and other investigations. We discuss some implications of the SBM cognitive phenotype for assessment, rehabilitation, and research.

PMID: 20419769

Brain mechanisms for reading and language processing in spina bifida meningomyelocele: a combined magnetic source- and structural magnetic resonance imaging study.

2012-01-18T10:57:00.000-06:00

Simos PG, Papanicolaou AC, Castillo EM, Juranek J, Cirino PT, Rezaie R, Fletcher JM. (2011) Brain mechanisms for reading and language processing in spina bifida meningomyelocele: a combined magnetic source- and structural magnetic resonance imaging study. Neuropsychology. 2011 Sep;25(5):590-601.

OBJECTIVE:
The development of the ability to process spoken and written language depends upon a network of left hemisphere temporal, parietal, and frontal regions. The present study explored features of brain organization in children with spina bifida meningomyelocele (SBM) and shunted hydrocephalus, who commonly present with precocious development of word reading skills and preservation of vocabulary and grammar skills.

METHOD:
Eight children with SBM were compared with 15 IQ and reading-level matched, typically developing controls on MRI-based morphometric and Magnetic Source Imaging-derived neurophysiological profiles.

RESULTS:
Children with SBM showed reduced magnetic activity in left inferior parietal regions during spoken word recognition and pseudoword reading tasks. We also noted reduced surface area/volume in inferior parietal and posterior temporal regions in SBM and increased gray matter volumes in left middle frontal regions and gyral complexity in left posterior temporal and inferior parietal regions.

CONCLUSIONS:
A complex pattern of changes in cortical morphology and activation may serve as evidence for structural and functional brain reorganization ensuring preservation of language and decoding abilities in children with SBM.

PMID: 21574714

Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele.

2012-01-18T10:50:00.000-06:00

Hannay HJ, Walker A, Dennis M, Kramer L, Blaser S, Fletcher JM. (2008) Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele.
J Int Neuropsychol Soc. 2008 Sep;14(5):771-81.

Spina bifida meningomyelocele with hydrocephalus (SBM) is commonly associated with anomalies of the corpus callosum (CC). We describe MRI patterns of regional CC agenesis and relate CC anomalies to functional laterality based on a dichotic listening test in 90 children with SBM and 27 typically developing controls. Many children with SBM (n = 40) showed regional CC anomalies in the form of agenesis of the rostrum and/or splenium, and a smaller number (n = 20) showed hypoplasia (thinning) of all CC regions (rostrum, genu, body, and splenium). The expected right ear advantage (REA) was exhibited by normal controls and children with SBM having a normal or hypoplastic splenium. It was not shown by children with SBM who were left handed, missing a splenium, or had a higher level spinal cord lesion. Perhaps the right hemisphere of these children is more involved in processing some aspects of linguistic stimuli.

PMID: 18764972

Posterior fossa decompression and the cerebellum in Chiari type II malformation: a preliminary MRI study

2012-01-18T10:46:00.000-06:00

Salman MS. (2011) Posterior fossa decompression and the cerebellum in Chiari type II malformation: a preliminary MRI study. Childs Nerv Syst. 2011 Mar;27(3):457-62.

OBJECTIVES:
Chiari type II malformation (CII) is a congenital deformity of the hindbrain. The posterior fossa and cerebellum are small in CII. The cerebellar atrophy is associated with cognitive and motor deficits. Brainstem compression occurs in some patients with CII for whom posterior fossa decompression may be life saving. The aim was to determine whether posterior fossa decompression can prevent or reduce the cerebellar atrophy in CII.

METHODS:
Cerebellar volumes and their tissue types (gray matter, white matter, and CSF volumes) from brain MRI were compared among four CII patients, aged 9.5 to 16.5 years, who had had posterior fossa decompression in infancy, 28 CII patients who had not had posterior fossa decompression, and ten age-matched normal controls. Parametric and non-parametric tests investigated group differences.

RESULTS:
Compared to controls, mean cerebellar volume was significantly smaller in CII patients (p<0.0001). Mean CSF volume within the cerebellar fissures and fourth ventricle was significantly smaller in patients without posterior fossa decompression compared to the CII patients who had the decompression, p=0.043. Mean CSF volume of the latter group was similar to the controls. Other cerebellar volumetric measurements did not differ between the CII groups.CONCLUSIONS:Posterior fossa decompression normalizes CSF spaces within the posterior fossa in CII but does not prevent the cerebellar atrophy. The author proposes that surgical expansion of the posterior fossa should be considered in infants with CII who have a significantly small posterior fossa, to prevent or reduce the deficits associated with the cerebellar atrophy.

PMID: 21221976

Cerebellar vermis morphology in children with spina bifida and Chiari type II malformation.

2012-01-18T10:39:00.001-06:00

Salman MS, Blaser SE, Sharpe JA, Dennis M. (2006) Cerebellar vermis morphology in children with spina bifida and Chiari type II malformation.
Childs Nerv Syst. 2006 Apr;22(4):385-93. Epub 2005 Dec 22.

OBJECTIVE:
Posterior fossa size and cerebellar weight and volume are reduced in Chiari type II malformation (CII). This is assumed to affect the cerebellum uniformly. We quantified the presumed reduction in vermis size on magnetic resonance imaging (MRI).

METHODS:
A midsagittal brain MRI slice was selected from each of 68 participants with CII (mean age 13 years). Control participants were 28 typically developing children (mean age 14.1 years). Midsagittal surface areas occupied by the intracranial fossa, posterior fossa, vermis, and its lobules were measured.

CONCLUSIONS:
Mean posterior fossa area was significantly smaller (P<0.003), although mean vermis area was significantly larger (P<0.0001), in participants with CII than in control participants. This expansion involved vermis lobules I-V and VI-VII areas (P<0.0001). The midsagittal vermis was expanded and not reduced in size in participants with CII. This is attributed to compressive displacement of midline structures within the confines of a small posterior fossa.

PMID: 16374591

Cerebellar motor function in spina bifida meningomyelocele.

2012-01-18T10:31:00.002-06:00

Dennis M, Salman MS, Juranek J, Fletcher JM (2010) Cerebellar motor function in spina bifida meningomyelocele. Cerebellum. 2010 Dec;9(4):484-98.

Spina bifida meningomyelocele (SBM), a congenital neurodevelopmental disorder, involves dysmorphology of the cerebellum, and its most obvious manifestations are motor deficits. This paper reviews cerebellar neuropathology and motor function across several motor systems well studied in SBM in relation to current models of cerebellar motor and timing function. Children and adults with SBM have widespread motor deficits in trunk, upper limbs, eyes, and speech articulators that are broadly congruent with those observed in adults with cerebellar lesions. The structure and function of the cerebellum are correlated with a range of motor functions. While motor learning is generally preserved in SBM, those motor functions requiring predictive signals and precise calibration of the temporal features of movement are impaired, resulting in deficits in smooth movement coordination as well as in the classical cerebellar triad of dysmetria, ataxia, and dysarthria. That motor function in individuals with SBM is disordered in a manner phenotypically similar to that in adult cerebellar lesions, and appears to involve similar deficits in predictive cerebellar motor control, suggests that age-based cerebellar motor plasticity is limited in individuals with this neurodevelopmental disorder.

PMID: 20652468

The cerebellum in children with spina bifida and Chiari II malformation: Quantitative volumetrics by region.

2012-01-18T10:29:00.001-06:00

Juranek J, Dennis M, Cirino PT, El-Messidi L, Fletcher JM. (2010) The cerebellum in children with spina bifida and Chiari II malformation: Quantitative volumetrics by region. Cerebellum. 2010 Jun;9(2):240-8.

Few volumetric MRI studies of the entire cerebellum have been published; even less quantitative information is available in patients with hindbrain malformations, including the Chiari II malformation which is ubiquitous in patients with spina bifida meningomyelocele (SBM). In the present study, regional volumetric analyses of the cerebellum were conducted in children with SBM/Chiari II and typically developing (TD) children. Total cerebellar volume was significantly reduced in the SBM group relative to the TD group. After correcting for total cerebellum volume, and relative to the TD group, the posterior lobe was significantly reduced in SBM, the corpus medullare was not different, and the anterior lobe was significantly enlarged. Children with thoracic level lesions had smaller cerebellar volumes relative to those with lumbar/sacral lesions, who had smaller volumes compared to TD children. The reduction in cerebellar volume in the group with SBM represents not a change in linear scaling but rather a reconfiguration involving anterior lobe enlargement and posterior lobe reduction.

PMID: 20143197

Anomalous development of brain structure and function in spina bifida myelomeningocele.

2012-01-18T10:24:00.001-06:00

Juranek J, Salman MS. (2012) Anomalous development of brain structure and function in spina bifida myelomeningocele.
Dev Disabil Res Rev. 2010;16(1):23-30.

Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II malformation. Other structural anomalies are not necessarily unique to SBM, including altered development of the corpus callosum and posterior fossa. Within SBM, tremendous heterogeneity is reflected in the degree to which brain structures are atypical in qualitative appearance and quantitative measures of morphometry. Hallmark structural features of SBM include overall reductions in posterior fossa and cerebellum size and volume. Studies of the corpus callosum have shown complex patterns of agenesis or hypoplasia along its rostral-caudal axis, with rostrum and splenium regions particularly susceptible to agenesis. Studies of cortical regions have demonstrated complex patterns of thickening, thinning, and gyrification. Diffusion tensor imaging studies have reported compromised integrity of some specific white matter pathways. Given equally complex ocular motor, motor, and cognitive phenotypes consisting of relative strengths and weaknesses that seem to align with altered structural development, studies of SBM provide new insights to our current understanding of brain structure-function associations.

PMID: 20419768

Selective and sustained attention in children with spina bifida myelomeningocele

2012-01-18T10:22:00.002-06:00

Caspersen ID, Habekost T. (2012) Selective and sustained attention in children with spina bifida myelomeningocele. Child Neuropsychology. 2012 Jan 11.

Spina bifida myelomeningocele (SBM) is a neural tube defect that has been related to deficits in several cognitive domains including attention. Attention function in children with SBM has often been studied using tasks that are confounded by complex motor demands or tasks that do not clearly distinguish perceptual from response-related components of attention. We used a verbal-report paradigm based on the Theory of Visual Attention ( Bundesen, 1990 ) and a new continuous performance test, the Dual Attention to Response Task ( Dockree et al., 2006 ), for measuring parameters of selective and sustained attention in 6 children with SBM and 18 healthy control children. The two tasks had minimal motor demands, were functionally specific and were sensitive to minor deficits. As a group, the children with SBM were significantly less efficient at filtering out irrelevant stimuli. Moreover, they exhibited frequent failures of sustained attention and response control in terms of omission errors, premature responses, and prolonged inhibition responses. All 6 children with SBM showed deficits in one or more parameters of attention; for example, three patients had elevated visual perception thresholds, but large individual variation was evident in their performance patterns, which highlights the relevance of an effective case-based assessment method in this patient group. Overall, the study demonstrates the strengths of a new testing approach for evaluating attention function in children with SBM.

PMID: 22235979

Nonverbal learning disabilities: a critical review.

2012-01-09T15:43:00.000-06:00

Spreen O. (2011) Nonverbal learning disabilities: a critical review. Child Neuropsychol. 2011 Sep;17(5):418-43.

This article presents a critical review of the term and concept of nonverbal learning disability (NLD). After a brief historical introduction, the article focuses on the apparent rarity of NLD; the hypothesis of the frequent co-occurrence of emotional disorder, depression, and suicide in NLD; the white matter hypothesis as an explanation of the origin of NLD; and the question of NLD as part of a variety of other disorders. It is argued that NLD presents a broad hypothesis, but that there is little evidence to support its use in clinical practice.

PMID: 21462003

Goal-directed behavior and perception of self-competence in children with spina bifida.

2012-01-09T15:29:00.000-06:00

Landry SH, Robinson SS, Copeland D, Garner PW. (1993) Goal-directed behavior and perception of self-competence in children with spina bifida. J Pediatr Psychol. 1993 Jun;18(3):389-96.

Compared a group of school-age children with spina bifida (n = 15) between the ages of 6 and 12 years with an age- and IQ-matched control group of normal children (n = 15). As predicted, the spina bifida children spent less time using goal-directed behaviors and more time in simple manipulation of the toys compared to the normal children. There were no group differences between the spina bifida and normal children's perceived competence but parents of the spina bifida children rated their children as having lower cognitive and physical competence. Associations were found between goal-directed behaviors and perceived self-competence for children in the spina bifida group but not the normal group.

PMID: 8340846

Goal-directed behavior in children with spina bifida.

2012-01-09T15:25:00.000-06:00

Landry SH, Copeland D, Lee A, Robinson S. (1990) Goal-directed behavior in children with spina bifida. J Dev Behav Pediatr. 1990 Dec;11(6):306-11.

A group of school-age children with spina bifida (n = 15) between the ages of 6 and 12 years were compared with an age- and IQ-matched control group of normal children (n = 15). Goal-directed behavior in these two groups was measured by videotaped observational measures of the number of different task-oriented play activities the children performed and the amount of time they spent in independent task-oriented activities. Measures of time spent off-task and in simple manipulation of the play materials were taken, as well as the number of social initiations the child directed to the examiner. The children with spina bifida spent less time in task-oriented activities than the control group, even though there were no group differences in the number of activities performed. The differences could not be explained by cognitive impairments or socioeconomic factors. These results suggest that children with spina bifida may have specific problems with sustaining goal-directed behavior, and need assistance in formulating and implementing a sequence of actions in order to achieve concrete short-term goals.

PMID: 2149725

Marital quality of parents of children with spina bifida: a case-comparison study.

2012-01-09T15:22:00.000-06:00

Cappelli M, McGarth PJ, Daniels T, Manion I, Schillinger J. (1994) Marital quality of parents of children with spina bifida: a case-comparison study. J Dev Behav Pediatr. 1994 Oct;15(5):320-6.

The impact of childhood chronic illness on parents' marital quality has received limited attention. Most studies have relied solely on mothers' reports and have not examined differences between mothers and fathers. Using a case-control design, this study compared the marital quality within and between dyads of 46 couples with children matched on the age and children matched on the age and sex of the child. During a home visit, parents completed both self-report measures and a communication observational task. Mothers' and fathers' reports of marital quality did not differ between the two groups. Also, no significant differences were found on other marital and psychosocial measures. The most interesting correlations were observed for fathers of children with spinal bifida whose marital quality was associated with parenting stress (r = -.51), depression (r = -.34), and role strain (r = -.34). Overall, the results of this study contribute to the growing body of literature demonstrating that parents of children with a chronic condition are at no greater risk for psychosocial dysfunction, including marital distress, than parents of healthy children. However, to generalize the results, additional research on marital quality with other chronic conditions is required.

PMID: 7868699

Family functioning in children and adolescents with spina bifida: an evidence-based review of research and interventions

2012-01-09T15:14:00.000-06:00

Holmbeck GN, Greenley RN, Coakley RM, Greco J, Hagstrom J. (2006) Family functioning in children and adolescents with spina bifida: an evidence-based review of research and interventions.
J Dev Behav Pediatr. 2006 Jun;27(3):249-77.

Research on the adjustment of families of children with spina bifida is reviewed, with a focus on delineating the impact of spina bifida on family functioning, the strengths and weaknesses of past research, and the needs for future evidence-based research on family interventions with this population. PsychINFO and MEDLINE literature searches were used to identify studies of family functioning and family-based interventions for children with spina bifida. Identified studies were empirically evaluated for the presence or absence of key methodological or analytic criteria. Thirty-two studies of family functioning were identified from 25 separate research groups; most studies displayed significant methodological limitations. No published studies of interventions to promote adaptive family functioning were identified. Methodologically sound, longitudinal, and theory-driven studies of family functioning are needed, as are randomized family-based intervention trials to promote adaptive functioning and better psychosocial outcomes in families of children with spina bifida. Specific recommendations for future work as well as clinical implications are noted.

PMID: 16775524

Psychosocial and family functioning in spina bifida.

2012-01-09T15:10:00.000-06:00

Holmbeck GN, Devine KA. (2010) Psychosocial and family functioning in spina bifida. Dev Disabil Res Rev. 2010;16(1):40-6.

A developmentally oriented bio-neuropsychosocial model is introduced to explain the variation in family functioning and psychosocial adjustment in youth and young adults with spina bifida (SB). Research on the family functioning and psychosocial adjustment of individuals with SB is reviewed. The findings of past research on families of youth with SB support a resilience-disruption view of family functioning. That is, the presence of a child with SB disrupts normative family functioning but many families adapt to such disruption and exhibit considerable resilience in the face of adversity. Parents of youth with SB, and particularly those from lower socio-economic status (SES) homes, are at-risk for psychosocial difficulties. Individuals with SB are at-risk for developing internalizing symptoms, attention problems, educational difficulties, social maladjustment, and delays in the development of independent functioning. Emerging adults are often delayed in achieving milestones related to this stage of development (e.g., vocational and educational achievements). Methodologically sound, longitudinal, and theory-driven studies of family and psychosocial functioning are needed, as are randomized family-based intervention trials, to promote adaptive functioning and better psychosocial outcomes in families of individuals with SB.

PMID:20419770

Executive functioning and psychological adjustment in children and youth with spina bifida.

2012-01-09T15:07:00.000-06:00

Kelly NC, Ammerman RT, Rausch JR, Ris MD, Yeates KO, Oppenheimer SG, Enrile BG. (2011) Executive functioning and psychological adjustment in children and youth with spina bifida. Child Neuropsychol. 2011 Oct 3.

Children and adolescents with spina bifida are at risk for poor neuropsychological functioning and psychological outcomes. The relationship between executive functioning and psychological adjustment is an area worthy of investigation in this population. The current study assessed executive functioning and psychological outcomes in a group of children and adolescents with spina bifida (SBM) (n = 51) and nondisabled controls (n = 45). A mediation model was hypothesized, such that Metacognition, as measured by the Behavior Rating Inventory of Executive Function (BRIEF), mediated the relationship between group status (spina bifida versus nondisabled controls) and psychological outcomes. Results indicated that metacognitive skills fully explained the relationship between group and internalizing and depressive symptoms as reported by mothers. In particular, specific components of the BRIEF Metacognition composite were most responsible for this relationship, including Initiate, Working Memory, and Plan/Organize. The study limitations include its cross-sectional nature that precludes drawing conclusions about causality. The results have implications for treatment interventions for children and adolescents with spina bifida and typically developing individuals.

PMID: 21961993

Expectation of life and unexpected death in open spina bifida: a 40-year complete, non-selective, longitudinal cohort study

2012-01-09T15:03:00.000-06:00

Oakeshott P, Hunt GM, Poulton A, Reid F. (2010) Expectation of life and unexpected death in open spina bifida: a 40-year complete, non-selective, longitudinal cohort study Dev Med Child Neurol. 2010 Aug;52(8):749-53.

AIM:
The aim of our study was to investigate survival and causes of death in a complete cohort of open spina bifida at the mean age of 40 years.

METHOD:
We conducted a community-based, prospective study of 117 consecutive infants (50 males, 67 females) with open spina bifida whose backs were closed non-selectively within 48 hours of birth between 1963 and 1971 at Addenbrooke's Hospital, Cambridge, UK. Of those who survived to age 1 year, 89% (82 out of 92) had a cerebrospinal fluid shunt. In 2007, all survivors were surveyed by postal questionnaire backed up by telephone interview. Details of deaths were obtained from the Office for National Statistics, medical records, and autopsy reports, and Kaplan-Meier survival curves were constructed.

RESULTS:
One in three of the cohort (40/117) died before the age of 5 years. A further 26% (31/117) died during the next 35 years, over 10 times the national average. Half the deaths (16/31) after the age of 5 were sudden and unexpected. All occurred in the community and were followed by a coroner's autopsy. The most frequent causes of these unexpected deaths were epilepsy, pulmonary embolus, acute hydrocephalus, and acute renal sepsis. The prognosis for survival was strikingly poor in those with the most extensive neurological deficit. Only 17% (7/42) of those born with a high sensory level (above T11) survived to the mean age of 40 years, compared with 61% (23/38) of those with a low sensory level (below L3; p=0.001).

INTERPRETATION:
Doctors and care planners need to be aware that, contrary to previous suggestions, there is continuing high mortality throughout adult life in individuals with open spina bifida, and many deaths are unexpected.

The Prevalence of Hypertension in Children with Spina Bifida

2012-01-09T14:57:00.000-06:00

Mazur L, Lacy B, Wilsford L. (2011) The Prevalence of Hypertension in Children with Spina Bifida Acta Paediatr. 2011 Aug;100(8):e80-3.

AIM:
To determine whether children with spina bifida (SB) have a higher prevalence of hypertension (HTN) than population-based controls.

METHODS:
Charts of all patients (n=123) seen in the Spina Bifida Clinic at Shriners Hospital in Houston, Texas, were reviewed for age, gender, ethnicity, type and level of neural tube defect, height, weight and blood pressure (BP). HTN was defined as a systolic blood pressure or diastolic blood pressure≥95th percentile for age, gender and height on ≥3 occasions. Data from the National Health and Nutrition Examination Survey and from a Houston-based study were used for comparison.

RESULTS:
Fifty-one (41.5%) patients were hypertensive. This was significantly higher than the 3% prevalence in the national controls, p<0.001 and the 4.5% prevalence in the Houston controls, p<0.001. Maximum body mass index increased the risk for HTN [odds ratio, 1.018; 95% confidence interval (1.005, 1.031); and p=0.005].

CONCLUSION:
Children with SB have a significantly higher prevalence of HTN than children in the general population. Age-, gender-, and height-based norms are important for the early identification and treatment of HTN in children.

PMID: 21342248

Neuropsychological Functioning in Early Hydrocephalus: Review From a Developmental Perspective

2012-01-09T14:53:00.000-06:00

Erickson K, Baron IS, Fantie BD. (2001) Neuropsychological Functioning in Early Hydrocephalus: Review From a Developmental Perspective Child Neuropsychol. 2001 Dec;7(4):199-229.

Children with hydrocephalus have deficits in several neuropsychological domains. The most notable are motor, visuoperceptual, and visuomotor function. These deficits are multiply determined and depend on the etiology and severity of the hydrocephalus to a large extent. Corpus callosum abnormalities resulting from stretching of callosal fibers and other cortical white matter tracts are implicated as contributory to these deficits. Enlarged ventricles and associated compression of posterior cortical areas also correlate with cognitive impairment. Distinguishing which cognitive domain negatively impacts on the child's functioning and which domains influence behavior in isolation or in combination has been the subject of numerous studies. Developmentally, we know little about the emergence of neuropsychological functioning in children with hydrocephalus. Study of the effects of hydrocephalus at different stages of development is useful to clinicians and researchers interested in the impact of diffuse neurophysiological damage on cognition in the developing brain. The medical and neuropsychological literature have begun to inform about these effects. The core deficits in hydrocephalus have yet to be explicated and a focus on investigations that answer these questions is required. This review summarizes the current knowledge about neurocognitive sequelae of hydrocephalus.

PMID: 16210211

Decreased activation and increased lateralization in brain functioning for selective attention and response inhibition in adolescents with spina bifida.

2012-01-09T14:40:00.000-06:00

Ou X, Snow JH, Byerley AK, Hall JJ, Glasier CM. (2011) Decreased activation and increased lateralization in brain functioning for selective attention and response inhibition in adolescents with spina bifida. Child Neuropsychol. 2011 Dec 6.

We used functional magnetic resonance imaging to evaluate functional activity in the brain of adolescents with spina bifida when performing selective attention and response inhibition tasks. We then compared the results to that of age-matched controls. Our results showed that adolescents with spina bifida had decreased frontal and superior parietal activation and more apparently low involvement of left brain hemisphere during these tasks. Our results indicated activation deficits and possibly abnormal functional organization in adolescents with spina bifida and associated pathologies such as hydrocephalus.

PMID: 22145814

Treatment of the neurogenic bladder in spina bifida.

2012-01-09T14:37:00.000-06:00

de Jong TP, Chrzan R, Klijn AJ, Dik P. (2008) Treatment of the neurogenic bladder in spina bifida. Pediatr Nephrol. 2008 Jun;23(6):889-96. Review.

Renal damage and renal failure are among the most severe complications of spina bifida. Over the past decades, a comprehensive treatment strategy has been applied that results in minimal renal scaring. In addition, the majority of patients can be dry for urine by the time they go to primary school. To obtain such results, it is mandatory to treat detrusor overactivity from birth onward, as upper urinary tract changes predominantly start in the first months of life. This means that new patients with spina bifida should be treated from birth by clean intermittent catheterization and pharmacological suppression of detrusor overactivity. Urinary tract infections, when present, need aggressive treatment, and in many patients, permanent prophylaxis is indicated. Later in life, therapy can be tailored to urodynamic findings. Children with paralyzed pelvic floor and hence urinary incontinence are routinely offered surgery around the age of 5 years to become dry. Rectus abdominis sling suspension of the bladder neck is the first-choice procedure, with good to excellent results in both male and female patients. In children with detrusor hyperactivity, detrusorectomy can be performed as an alternative for ileocystoplasty provided there is adequate bladder capacity. Wheelchair-bound patients can manage their bladder more easily with a continent catheterizable stoma on top of the bladder. This stoma provides them extra privacy and diminishes parental burden. Bowel management is done by retrograde or antegrade enema therapy. Concerning sexuality, special attention is needed to address expectations of adolescent patients. Sensibility of the glans penis can be restored by surgery in the majority of patients.

PMID: 18350321

Urological follow-up of adult spina bifida patients

2012-01-09T14:28:00.001-06:00

Ahmad I, Granitsiotis P. (2007) Urological follow-up of adult spina bifida patients. Neurourol Urodyn. 2007;26(7):978-80. Review.

Department of Urology, Southern General Hospital, Glasgow, Scotland, United Kingdom. imranahmad@doctors.net.uk

AIMS:
The vast majority of the current urological literature understandably has concentrated on the management of children with spina bifida, because in the past the majority did not survive into adulthood. With improvements in the understanding and multidisciplinary care of spina bifida patients it has become a disease of adults. Our aim was to evaluate the current literature to attempt to formulate evidence based guidelines for the management of this difficult group of patients.

METHODS:
We reviewed the literature on adult urological management of spina bifida, all relevant articles which concentrated on adults and long-term management were studied in full.

RESULTS:
Renal function may begin/continue to deteriorate into adulthood, becoming the leading cause of adult death. This is thought to occur because of changes in the adult bladder, with increases in storage pressure. Medical and surgical management should aim to preserve renal function as well as the maintenance of continence in the face of the growing and changing urinary tract. Follow-up should be regular and in the context of a specialist multidisciplinary clinic. Despite being unvalidated in the follow-up of adult spina bifida patient's annual serum creatinine, ultrasound and urodynamics are currently the best tools available.

CONCLUSIONS:
There is no reason why the majority of spina bifida sufferers cannot use their own kidneys for the rest of their lives. This however relies on urological treatment being instigated soon after birth and continuing into adulthood.

PMID: 17626275

Early Start to Therapy Preserves Kidney Function in Spina Bifida Patients

2012-01-09T14:25:00.000-06:00

Dik P, Klijn AJ, van Gool JD, de Jong-de Vos van Steenwijk CC, de Jong TP. (2006) Early Start to Therapy Preserves Kidney Function in Spina Bifida Patients
Eur Urol. 2006 May;49(5):908-13. Epub 2006 Jan 19.

OBJECTIVE:
Renal scarring and renal failure remain life-threatening for children born with spinal dysraphism. We reviewed our data of spina bifida patients to evaluate whether optimal treatment of the neurogenic bladder from birth onwards can preserve kidney function.

METHODS:
We reviewed data on all newborns with spinal dysraphism who were referred to our hospital between January 1988 and June 2001. We looked at their situations at referral and at follow-up: the type of treatment, antimuscarinic agents, clean intermittent catheterisation (CIC), antibiotic prophylaxis, and operations (sling procedures, bladder augmentations, antireflux procedures). Renal function (ultrasound, DMSA scan, serum creatinin, creatinin clearance) and bladder function (urodynamic studies) were evaluated over time.

RESULTS:
Data of 144 children of 176 could be evaluated by the end of the study: 5 patients had pre-existing renal abnormalities, 69 had an overactive sphincter, 27 had reflux, and six had renal scarring. None are currently developing end-stage renal disease. All patients with spina bifida aperta started CIC and antimuscarinic therapy shortly after birth. Five of the six patients with renal scarring were started on therapy with intermittent catheterisation and antimuscarinic therapy several months after birth. Sixty-three of 82 children with spina bifida were dry at school age (age six), although 37 of these had not had an operation.

CONCLUSION:
We show that an early start to therapy helps to safeguard renal function for children born with spina bifida. Our data support other recent reports that children born with spina bifida can probably use their own kidneys for a lifetime, if they are given adequate urological treatment. To protect the upper urinary tract, we need to ensure low intravesical pressure by starting children early on CIC (the preferred treatment); antimuscarinic agents to counteract detrusor instability are indispensable in most cases. Proactive treatment of risks for upper tract deterioration results in a negligible loss of renal function, even when early urinary continence is included in the treatment protocol.

PMID:16458416

Care coordination in the spina bifida clinic setting: current practice and future directions

2012-01-09T14:15:00.001-06:00

Brustrom J, Thibadeau J, John L, Liesmann J, Rose S. (2012) Care coordination in the spina bifida clinic setting: current practice and future directions.
J Pediatr Health Care. 2012 Jan;26(1):16-26. Epub 2010 Jul 10.

INTRODUCTION:
Although the potential benefits of care coordination are widely recognized, little is known about care coordination in the multidisciplinary spina bifida clinic setting. This study examined several aspects of care coordination in this environment.

METHOD:
We conducted semi-structured interviews with clinic staff (N = 43) and focus groups with caregivers (N = 38) at seven spina bifida clinics in the United States.
RESULTS:

Clinic staff described several primary goals of care coordination, including coordinating multiple services during one visit to ease the burden on families. Although the structure of care coordination varied across the clinics, several clinics had a dedicated care coordinator. Barriers and facilitators to care coordination included staffing issues, clinic day logistics, community resources, and family-related concerns. Despite challenges associated with care coordination processes, clinic staff and caregivers alike believed that care coordination is beneficial.

DISCUSSION:
Study findings suggest ways that care might be coordinated optimally in spina bifida clinics. A synthesis of these findings for clinics interested in implementing care coordination or improving the care coordination services they currently offer is provided.

PMID: 22153140

Academic, Physical, and Social Functioning of Children and Adolescents With Chronic Physical Illness: A Meta-analysis.

2012-01-09T14:12:00.000-06:00

Pinquart M, Teubert D. (2011) Academic, Physical, and Social Functioning of Children and Adolescents With Chronic Physical Illness: A Meta-analysis.
J Pediatr Psychol. 2011 Dec 15.

OBJECTIVE:

We compared the levels of academic, physical, and social functioning of children and adolescents with chronic physical diseases with those of healthy peers or test norms.
METHODS:

A random effects meta-analysis was computed to integrate the results of 954 studies.
RESULTS:

Impairments of physical functioning (g = 0.82 standard deviation units) were stronger than impairments of academic (g = 0.53) and social functioning (g = 0.43). Children with cerebral palsy and spina bifida showed the largest levels of functional impairments. The levels of functional impairments also varied by year of publication, source of information, ethnicity, country, and sociodemographic equivalence of the compared groups.
CONCLUSIONS:

More efforts are needed to develop and implement measures for the prevention of impaired functioning of children and adolescents with chronic physical illness and for the reduction of already existing impairments of their functioning.

PMID: 22173882

Cognitive and functional outcome in spina bifida-Chiari II malformation.

2011-01-24T11:12:00.000-06:00

Jenkinson MD, Campbell S, Hayhurst C, Clark S, Kandasamy J, Lee MK, Flynn A, Murphy P, Mallucci CL.
Cognitive and functional outcome in spina bifida-Chiari II malformation.
Childs Nerv Syst. 2010 Dec 31.

PURPOSE: The long-term outcome in spina bifida-Chiari II-hydrocephalus complex is poorly understood. Traditional neurosurgical outcome measures are crude. Neuropsychological testing is increasingly important in outcome assessment. We investigated the health, disability, lifestyle and cognitive function in adults who had myelomeningocoele closure at birth.

METHODS: Adult patients under routine follow-up were assessed in a joint neurosurgery/neuropsychology clinic. Patients completed lifestyle questionnaires, the hydrocephalus outcome questionnaire (HOQ) and underwent cognitive testing. Clinical variables including number of shunt revisions, shunt infection and surgical decompression of foramen magnum, which may influence outcome, were investigated.

RESULTS: Twenty-one adults with a median age of 35 years were investigated. All had treated hydrocephalus, and eight had foramen magnum decompression for headache or progressive brainstem symptoms with stabilisation of symptoms in seven and improvement in one. Only eight patients were living independently, five were in paid employment and five work voluntarily. HOQ scores for cognitive function were lower (0.56 ± 0.20; mean ± standard deviation (SD)) than those for physical (0.64 ± 0.15) and social-emotional (0.65 ± 0.17) health. Cognitive function varied across the cohort with attention most severely affected (73.9 ± 17.0; mean ± SD). Repeated episodes of shunt malfunction or foramen magnum decompression were not associated with a worse cognitive function.

CONCLUSIONS: Despite intervention in childhood and adequate cerebrospinal fluid diversion the prognosis for independent living into adulthood remains poor. All patients have elements of cognitive impairment. Structural brain abnormalities may be more important determinants of cognitive outcome than shunt malfunction.

PMID: 21193992

Pain, Especially neuropathic pain, in adults with spina bifida, and its relation to age, neurological level, completeness, gender and hydrocephalus

2010-05-13T11:10:00.002-05:00

Werhagen L, Hultling C, Borg K. (2010)
Pain, Especially neuropathic pain, in adults with spina bifida, and its relation to age, neurological level, completeness, gender and hydrocephalus Journal of Rehabilitation Medicine. 2010 Apr;42(4):374-6.

Department of Clinical Sciences Karolinska Institutet, Division of Rehabilitation Medicine, Danderyd Hospital, Stockholm, Sweden. werhagen@hotmail.com
Abstract

STUDY DESIGN: Cohort study. OBJECTIVE: To investigate the prevalence of neuropathic pain in adults with spina bifida, to study the relationship between neuropathic pain, age at examination, gender, completeness of injury, neurological level and presence of hydrocephalus.

METHODS: A total of 110 patients with spina bifida who visited the spinal cord injury outpatient clinic Spinalis were included. At the yearly check-up they underwent examination by a physiotherapist and a neurologist and were interviewed about pain character, temporal profile and localization. The patients were divided into 2 groups; spina bifida with (n = 57) and without hydrocephalus (n = 53). Pain was classified as neuropathic when it was in an area of decreased sensibility and had no correlation to movement and/or inflammatory signs. Results were analysed by chi2 analysis and Fisher's exact test.

RESULTS: Twenty-two patients (20%) experienced nociceptive pain. Neuropathic pain was present in 11/110 (10%) patients, of these 62% experienced below level neuropathic pain. Neuropathic pain was present in 13% of male patients and 7% of female patients, 12% of patients with a lumbar level and 10% of patients with a thoracic level. Neuropathic pain was present in 9% of patients with a complete spinal cord injury, 14% of those with an incomplete spinal cord injury, 1,7% with hydrocephalus and 19% without hydrocephalus.

CONCLUSION: The results suggest that neuropathic pain is present in spina bifida. Careful analysis and classification of a patient's pain is clinically important. Neuropathic pain is more common in patients without hydrocephalus and in older patients. Presence of neuropathic pain was not related to gender, completeness of injury, or neurological level.

PMID: 20461341

Intraabdominal complications secondary to ventriculoperitoneal shunts: CT findings and review of the literature.

2010-04-26T11:40:00.001-05:00

Chung JJ, Yu JS, Kim JH, Nam SJ, Kim MJ. (2009) Intraabdominal complications secondary to ventriculoperitoneal shunts: CT findings and review of the literature.
AJR American Journal of Roentgenology. 2009 Nov;193(5):1311-7. Review.

OBJECTIVE: The purpose of our study was to evaluate the abdominopelvic CT findings of various intraabdominal complications secondary to ventriculoperitoneal shunts for hydrocephalus and to review the literature.

MATERIALS AND METHODS: The CT images of 70 patients (33 men and 37 women; mean age, 48.5 years) who underwent ventriculoperitoneal shunt placement and abdominopelvic CT because of shunt-related abdominal symptoms were reviewed retrospectively. CT images were analyzed with regard to the location of the shunting catheter tip; site, size, wall, and septa of localized fluid collection; peritoneal thickening; omentomesentery infiltration; abscess; bowel perforation; abdominal wall infiltration; and thickening of the catheter track wall.

RESULTS: The mean period between the last ventriculoperitoneal shunting operation and CT was 11 months (range, 1 week to 115 months), and the mean number of ventriculoperitoneal shunting operations undergone was 1.4 (range, 1-6). A total of 76 ventriculoperitoneal shunting catheters were introduced in 70 patients: 64 patients had a unilateral catheter inserted and six patients had bilateral catheters inserted. Sixteen patients (22.9%) were pathologically diagnosed with ventriculoperitoneal shunt-related complications: 11 cases (15.7%) of shunt infection, six cases (8.6%) of CSF pseudocyst, four cases (5.7%) of abdominal abscess, three cases (4.3%) of infected fluid collection, and one case (1.4%) of bowel perforation. Microorganisms were cultured from the tip of the shunting catheter or peritoneal fluid in 11 patients (15.7%).

CONCLUSION: On abdominopelvic CT, various intraabdominal complications secondary to ventriculoperitoneal shunt were shown, of which, shunt infection was the most common, followed by CSF pseudocyst, abscess, and infected fluid collection.

PMID: 19843747

Cognitive functions in children with myelomeningocele without hydrocephalus

2010-04-26T11:36:00.001-05:00

Lindquist B, Uvebrant P, Rehn E, Carlsson G. (2009) Cognitive functions in children with myelomeningocele without hydrocephalus. Child’s Nervous System. 2009 Aug;25(8):969-75.

OBJECTIVE: The aim of this study was to explore the separate effects of myelomeningocele (MMC) and hydrocephalus on intelligence and neuropsychological functions in a population-based series of children.

MATERIAL AND METHODS: Of the 69 children with MMC born in 1992-1999 in western Sweden, nine did not develop hydrocephalus. Eight of them participated in this study and were compared with age- and gender-matched children with MMC in combination with hydrocephalus and with controls.

RESULTS: Children with only MMC had an IQ of 103 compared with 75 in those with hydrocephalus added to the MMC and they had significantly better immediate and long-term memory and executive functions. When compared with controls, they had difficulty with learning and executive functions, but when the two children with an IQ of less than 70 were excluded, those with only MMC performed just as well as the controls.

CONCLUSION: Hydrocephalus rather than MMC in itself appeared to cause the cognitive deficits found in children with MMC.

PMID: 19263057

Cumulative diagnostic radiation exposure in children with ventriculoperitoneal shunts: a review.

2010-04-26T11:03:00.002-05:00

Smyth MD, Narayan P, Tubbs RS, Leonard JR, Park TS, Loukas M, Grabb PA. Cumulative diagnostic radiation exposure in children with ventriculoperitoneal shunts: a review. Child’s Nervous System. 2008 Apr;24(4):493-7. Review.

INTRODUCTION: Children may be more vulnerable to diagnostic radiation exposure because of the increased dose-volume ratio and the increased lifetime risk per unit dose of radiation from early exposure. Moreover, recent radiological literature suggests that exposure to ionizing radiation from imaging studies may play a role in the later development of malignancies.

MATERIALS AND METHODS: We review the literature and present two illustrative clinical examples of children (each child developed head and neck malignancies during their late teen years) with hydrocephalus requiring multiple cerebrospinal fluid (CSF) shunt revisions and diagnostic computerized tomography (CT) scans throughout their life.

DISCUSSION: The literature reviewed suggests that children are more prone to diagnostic radiation exposure. Although it is not possible to prove that the multiple diagnostic studies result in malignancies, our review of the literature and illustrative cases describing malignancy risk and radiation exposure should give clinicians pause when considering requesting multiple diagnostic CT studies in children during the evaluation of possible CSF shunt dysfunction. Alternative tests such as "shunt MRI" protocols should be considered for patients and used whenever possible to minimize exposure to ionizing radiation.

PMID: 18180935

Prospective memory in adults with spina bifida

2010-04-26T10:59:00.003-05:00

Dennis M, Nelson R, Jewell D, Fletcher JM. (2010) Prospective memory in adults with spina bifida. Child's Nervous System. 2010 Apr 15

INTRODUCTION: Individuals with neurodevelopmental disorders have been observed to show accelerated cognitive aging or even dementia as early as 30 and 40 years of age. Memory deficits are an important component of age-related cognitive loss.

METHODS: In this study, we investigated prospective memory, which is often impaired in aging, in a group of 32 adults with spina bifida meningomyelocele (SBM), including members of the oldest living cohort successfully treated with shunts to divert excess cerebrospinal fluid, ventriculomegaly, and hydrocephalus, who are now around 50 years of age. Seventeen typically developing adults provided a comparison group.

RESULTS: The SBM and comparison groups differed in the prospective memory total score as well as in both time-based and event-based subscores. Prospective memory was impaired in both older and younger individuals with SBM. However, the percentage of individuals with impaired or poor prospective memory was three times higher in the older SBM group than in the younger SBM group. The results are considered in relation to specific features of the complex brain reorganization in SBM.

PMID: 20393850

Slitlike ventricle syndrome: a life-threatening presentation.

2009-12-03T14:49:00.001-06:00

da Silva PS, Suriano IC, Neto HM. (2009) Slitlike ventricle syndrome: a life-threatening presentation. Pediatric Emergency Care. 2009 Oct;25(10):674-6.

From the *Pediatric Intensive Care Unit, Department of Pediatrics, and daggerDepartment of Neurosurgery, Hospital do Servidor Público Municipal, São Paulo, Brazil.

Severely increased intracranial pressure can be life-threatening in shunted children who do not experience ventricular enlargement. This condition is termed normal ventricular hydrocephalus and represents the most severe form of slit ventricle syndrome. CASE REPORT:: A 7-year-old girl with a repaired lumbosacral myelomeningocele and shunted at birth who presented with headache, vomiting, seizure, and deterioration of level of consciousness was admitted to the pediatric intensive care unit. Because her ventricles were small to slitlike on cranial computed tomographic (CT) scan, the shunt was presumed to be working. Although the cerebrospinal fluid analysis was normal, she received initial empirical treatment of viral encephalitis. Twenty-four hours after admission, she evolved with apnea and bradycardia, requiring ventilatory support. Repeated CT scans were unchanged from one study to the next. After 48 hours, her condition worsened, and cerebrospinal pressure during lumbar puncture reached more than 30 mm Hg despite the serial CT scan disclosing no ventricular enlargement. She underwent a shunt revision that showed that the catheter was occluded and had adhered to the ventricular wall. The shunt was replaced, resulting in dramatic neurological improvement. This report highlights a life-threatening condition involving chronically shunted children who present severe intracranial hypertension without ventriculomegaly and may often be neglected or unrecognized by emergency physicians or general neurosurgeons.

PMID: 19834417

Memory functions in children with early hydrocephalus.

2009-09-14T15:30:00.001-05:00

Scott MA, Fletcher JM, Brookshire BL, Davidson KC, Landry SH, Bohan TC, Kramer LA, Brandt ME, Francis DJ. Memory functions in children with early hydrocephalus.
Neuropsychology. 1998 Oct;12(4):578-89.

Department of Pediatrics, University of Arkansas for Medical Sciences, Springdale 72765-0768, USA. mscott3@aol.com

Children with arrested, shunted, and no hydrocephalus were compared on verbal and nonverbal memory tasks assessing multiple components of memory. A gradient of severity was hypothesized, with the shunted hydrocephalus group expected to exhibit the most significant memory impairments and the arrested group expected to perform more poorly than children with no hydrocephalus. Etiologies of prematurity, spina bifida, and aqueductal stenosis were represented by 157 participants. Results supported the hypothesis; the shunted hydrocephalus group performed poorer on all memory measures. Differences for the arrested group were less frequently statistically significant relative to children with no hydrocephalus. Irrespective of etiology, the shunted hydrocephalus group exhibited a pattern of performance suggestive of encoding and retrieval deficits on both verbal and nonverbal tasks, showing a pervasive disturbance of memory processes.

PMID: 9805328

Sustained attention in children with two etiologies of early hydrocephalus.

2009-09-14T15:28:00.001-05:00

Swartwout, Maegan D.; Cirino, Paul T.; Hampson, Amy W.; Fletcher, Jack M.; Brandt, Michael E.; Dennis, Maureen; Sustained attention in children with two etiologies of early hydrocephalus. Neuropsychology, Vol 22(6), Nov, 2008. pp. 765-775.

Department of Psychology, University of Houston, Houston, TX 77204-5355, USA. mdswartwout@uh.edu

Several studies have shown that children with spina bifida meningomyelocele (SBM) and hydrocephalus have attention problems on parent ratings and difficulties in stimulus orienting associated with a posterior brain attention system. Less is known about response control and inhibition associated with an anterior brain attention system. Using the Gordon Vigilance Task (Gordon, 1983), we studied error rate, reaction time, and performance over time for sustained attention, a key anterior attention function, in 101 children with SBM, 17 with aqueductal stenosis (AS; another condition involving congenital hydrocephalus), and 40 typically developing controls (NC). In SBM, we investigated the relation between cognitive attention and parent ratings of inattention and hyperactivity and explored the impact of medical variables. Children with SBM did not differ from AS or NC groups on measures of sustained attention, but they committed more errors and responded more slowly. Approximately one-third of the SBM group had attention symptoms, although parent attention ratings were not associated with task performance. Hydrocephalus does not account for the attention profile of children with SBM, which also reflects the distinctive brain dysmorphologies associated with this condition.

PMID: 18999350

Transcallosal connectivity and cortical rhythms: findings in children with spina bifida.

2009-09-14T14:59:00.004-05:00

Castillo EM, Fletcher JM, Li Z, Hoskison MM, Hasan KM, Passaro A, Papanicolaou AC. Transcallosal connectivity and cortical rhythms: findings in children with spina bifida. NeuroReport. 2009 Aug 26;20(13):1188-92.

Center for Clinical Neurosciences, Department of Pediatrics, Medical School, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA. Eduardo.m.castillo@uth.tmc.edu

We studied the relation between cortical oscillatory rhythms and the structural integrity of the corpus callosum in 21 children with spina bifida and hydrocephalus. Participants underwent resting state neuromagnetic recordings and diffusion tensor imaging. Areas of three segments of the corpus callosum (genu, body, splenium) were derived through diffusion tensor imaging-based morphometrics. Children with spina bifida showed reduced values of spectral power in the theta, alpha and beta bands when compared with age-matched controls, but only in the posterior and temporal regions. Reduced spectral power in posterior regions correlated with decreased area of the posterior segments of the corpus callosum. Atypical cortical oscillatory activity is associated with reduced transcallosal connectivity in children with spina bifida.

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

2009-08-19T13:12:00.001-05:00

Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. (2009) Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. American Journal of Obstetrics and Gynecology. 2009 Aug 14.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health Science Center at Houston, Houston, TX.

OBJECTIVE: We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina bifida (SB) susceptibility.

STUDY DESIGN: The study consisted of 610 unrelated simplex SB patient families. Genotypes of 46 SNPs located in the coding sequence or promoter region of 11 genes were investigated. Associations between transmission of alleles and SB in the offspring were examined using the reconstruction combined transmission disequilibrium test.

RESULTS: Significant association of SNP rs5742905 in cystathionine-beta-synthase, rs1643649 in dihydrofolate reductase, rs2853533 in thymidylate synthetase, and rs3737965 in methylenetetrahydrofolate reductase was found (P = .015, .041, .021, and .007 respectively).

CONCLUSION: Transmission disequilibrium of SNP alleles in cystathionine-beta-synthase, dihydrofolate reductase, methylenetetrahydrofolate reductase, and thymidylate synthetase confers an increased susceptibility to SB.

PMID: 19683694

Lifestyle, participation, and health-related quality of life in adolescents and young adults with myelomeningocele.

2009-07-03T10:14:00.001-05:00

Buffart LM, Berg-Emons RJ, Meeteren JV, Stam HJ, Roebroeck ME. (2009) Lifestyle, participation, and health-related quality of life in adolescents and young adults with myelomeningocele. Developmental Medicine and Child Neurology. 2009 Mar 20.

Department of Rehabilitation Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

This study aimed to describe participation and health-related quality of life (HRQoL) in adolescents and young adults with myelomeningocele and to explore their relationships with lifestyle-related factors. Fifty-one individuals with a mean age of 21 years 1 month (SD 4y 6mo) years participated (26 males, 25 females; 82% hydrocephalus, 55% wheelchair-dependent). Participation was assessed using the Life Habits Questionnaire, and HRQoL was assessed using the Medical Outcomes Study 36-item Short-form Health Survey. Physical activity was measured using an accelerometry-based activity monitor, fitness (peak oxygen uptake) was measured during a maximal exercise test, and the sum of four skin-folds was assessed to indicate body fat. Relationships were studied using logistic regression analyses. Of the participants, 63% had difficulties in daily activities and 59% in social roles. Participants perceived lower physical HRQoL than a Dutch reference population. Participants with higher levels of physical activity and fitness had fewer difficulties in participating in daily activities (odds ratio [OR]=8.8, p=0.02 and OR=29.7, p=0.02 respectively) and a higher physical HRQoL (OR=4.8, p=0.02 and OR=30.2, p=0.006 respectively), but not mental HRQoL. Body fat was not related to participation or HRQoL. In conclusion, a large proportion of individuals with myelomeningocele had difficulties in participation and perceived low physical HRQoL. Higher levels of physical activity and fitness were related to fewer difficulties in participation and higher physical HRQoL.

PMID: 19416327

Incidence of symptomatic retethering after surgical management of pediatric tethered cord syndrome with or without duraplasty.

2009-07-03T10:10:00.000-05:00

Samuels R, McGirt MJ, Attenello FJ, Garcés Ambrossi GL, Singh N, Solakoglu C, Weingart JD, Carson BS, Jallo GI. (2009) Incidence of symptomatic retethering after surgical management of pediatric tethered cord syndrome with or without duraplasty. Child's Nervous System. 2009 May 6.

Department of Neurosurgery, Johns Hopkins School of Medicine, 600 N Wolfe Street, Meyer 8-161, Baltimore, MD, 21287, USA.

BACKGROUND: Cord retethering and other postoperative complications can occur after the surgical untethering of a first-time symptomatic tethered cord. It is unclear if using duraplasty vs. primary dural closure in the initial operation is associated with decreased incidence of either immediate postoperative complications or subsequent symptomatic retethering. It is also unclear if different etiologies are associated with different outcomes after each method of closure. We reviewed our pediatric experience in first-time surgical untethering of symptomatic tethered cord syndrome (TCS) to identify the incidence of postoperative complications and symptomatic retethering after duraplasty vs. primary closure.

MATERIALS AND METHODS: We retrospectively reviewed 110 consecutive pediatric (<18 years old) cases of first-time symptomatic spinal cord untethering at our institution over a 10-year period. Incidence of postoperative complications and symptomatic retethering were compared in cases with duraplasty vs. primary dural closure use.

RESULTS: Mean age was 5.7 +/- 4.8 years old. "Complex" etiologies included lipomyelomeningocele or prior lipomyelomeningocele repair in 22 (20%) patients, prior myelomeningocele repair in 35 (32%), and concurrent lumbosacral lipoma in 18 (16%). "Noncomplex etiologies" included fatty filum in 26 (24%) and split cord malformation in five (4%). Seventy-five (68%) cases underwent primary dural closure vs. 35 (32%) with duraplasty. Twenty-nine (26%) patients experienced symptomatic retethering at a median [interquartile range (IQR)] of 30.5 [20.75-41.75] months postoperatively. There was no difference in incidence of postoperative cerebrospinal fluid leak, surgical site infection, or median [IQR] length of stay in patients receiving primary dural closure [4 (5%), 7 (9%), and 5 (4-6) days, respectively] vs. duraplasty [3 (9%), 3 (9%), and 6 [5-8] days, respectively], p > 0.05. Complex etiologies were more likely to retether than noncomplex etiologies after primary closure (33.6% vs. 6.6%, p = 0.05) but not after duraplasty (13.7% vs. 5.4%, p = 0.33). Duraplasty graft type (polytetrafluoroethylene vs. bovine pericardium) was not associated with pseudomeningocele or retethering.

CONCLUSION: In our experience, the increased rate of symptomatic retethering observed with complex pediatric TCS (pTCS) etiologies after primary dural closures was not observed when duraplasty was instituted. Expansile duraplasty may be valuable specifically in the management of patient subgroups with complex pTCS etiologies.

PMID: 19418057

Posterior vertebral column subtraction osteotomy: a novel surgical approach for the treatment of multiple recurrences of tethered cord syndrome.

2009-07-03T10:09:00.000-05:00

Hsieh PC, Ondra SL, Grande AW, O'Shaughnessy BA, Bierbrauer K, Crone KR, Halpin RJ, Suk I, Koski TR, Gokaslan ZL, Kuntz C. (2009) Posterior vertebral column subtraction osteotomy: a novel surgical approach for the treatment of multiple recurrences of tethered cord syndrome. Journal of Neurosurgery: Spine. 2009 Apr;10(4):278-86.

Department of Neurological Surgery, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA. phsieh@usc.edu

Recurrent tethered cord syndrome (TCS) has been reported to develop in 5-50% of patients following initial spinal cord detethering operations. Surgery for multiple recurrences of TCS can be difficult and is associated with significant complications. Using a cadaveric tethered spinal cord model, Grande and colleagues demonstrated that shortening of the vertebral column by performing a 15-25-mm thoracolumbar osteotomy significantly reduced spinal cord, lumbosacral nerve root, and terminal filum tension. Based on this cadaveric study, spinal column shortening by a thoracolumbar subtraction osteotomy may be a viable alternative treatment to traditional surgical detethering for multiple recurrences of TCS. In this article, the authors describe the use of posterior vertebral column subtraction osteotomy (PVCSO) for the treatment of 2 patients with multiple recurrences of TCS. Vertebral column resection osteotomy has been widely used in the surgical correction of fixed spinal deformity. The PVCSO is a novel surgical treatment for multiple recurrences of TCS. In such cases, PVCSO may allow surgeons to avoid neural injury by obviating the need for dissection through previously operated sites and may reduce complications related to CSF leakage. The novel use of PVCSO for recurrent TCS is discussed in this report, including surgical considerations and techniques in performing PVCSO.

PMID: 19441983

Neuropsychological assessment of attention in children with spina bifida.

2009-07-03T10:04:00.001-05:00

Vinck A, Mullaart R, Rotteveel J, Maassen B. (2009) Neuropsychological assessment of attention in children with spina bifida. Cerebrospinal Fluid Research. 2009 May 28;6:6.

Department of Medical Psychology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands. a.vinck@mps.umcn.nl.

ABSTRACT: BACKGROUND: Children with the severe form of spina bifida (SBM: spina bifida with myelomeningocele with accompanying hydrocephalus) may manifest attention deficits, and have a similar psychological profile to children with hydrocephalus due to other etiologies. It is unclear to what extent tests to assess attention in SBM are confounded by the accompanying cognitive or visual-motor impairments. The aim of this study was to analyse attention functions by administering two different types of attention tests, one with high and the other with low cognitive and motor requirements. This enabled the possible interaction between attention and cognitive and motor impairment to be assessed.

METHODS: The study group comprised 31 children with SBM with shunted hydrocephalus. Twenty children with SB-only formed a closely matched comparison group. Of these, 19 children with SBM and 18 with SB had a full-scale IQ (FSIQ) higher than 70. All had undergone spinal surgery and all children with SBM had been shunted within the first months of life. Between 6 and 15 years of age, the children were assessed on focused and sustained attention, encoding, and distractibility/impulsivity, using both traditional tests and computerized attention tests.

RESULTS: Compared to the SB group, attention scores of children with SBM were lower on the traditional tests, but when interfering cognitive and visual-motor requirements were eliminated using the computerised tasks, most differences disappeared. Furthermore, in contrast to traditional attention tasks, computerized tests showed no significant correlations with IQ-scores and visual-motor skills.

CONCLUSION: Assessment of attention functions in children with SBM by traditional tests may be misleading, because this paediatric population with complex cerebral malformations has difficulty with the cognitive and visual-motor requirements. To control for these interactions, the use of both traditional and computerized attention tests is recommended.

PMID: 19476646

Shunt complications in children with myelomeningocele: effect of timing of shunt placement. Clinical article.

2009-07-03T10:02:00.001-05:00

Radmanesh F, Nejat F, El Khashab M, Ghodsi SM, Ardebili HE. (2009) Shunt complications in children with myelomeningocele: effect of timing of shunt placement. Clinical article. Journal of Neurosurgery: Pediatrics. 2009 Jun;3(6):516-20.

Department of Neurosurgery, Children's Hospital Medical Center, and Department of Biostatistics, Tehran University of Medical Sciences, Tehran, Iran.

OBJECT There has been controversy over whether CSF shunt insertion simultaneously with repair of myelomeningocele (MMC) might increase shunt-related complications. The purpose of this study was to evaluate shunt complication rates in patients who underwent concurrent MMC surgery and shunt placement and compare them to the rates in patients treated with shunt placement in a separate procedure.

METHODS The authors retrospectively reviewed the outcome of shunt placement in 127 patients with MMC who were followed up for >or=1 year after shunt surgery. In 65 patients shunt surgery was performed in a second operation after MMC repair and in 46 the 2 procedures were performed concurrently. In 7 patients shunt placement was the initial surgery, and in 9 it was the only procedure performed. The patients were evaluated for shunt complications.

RESULTS There was no statistically significant between-groups difference in age at which patients underwent shunt placement. The overall rates of shunt infection and shunt malfunction were 16.5 and 39.4%, respectively. There was a high rate of shunt infection and mortality in those patients treated with CSF shunting only. There was no statistically significant difference between complication rates in patients in whom the 2 procedures were performed concurrently and those who underwent separate operations.

CONCLUSIONS The order in which myelomeningocele repair and shunt placement were carried out did not have a significant effect on the rate of shunt complications. Thus, when indicated these procedures can be performed concurrently with a level of risk comparable to that associated with delayed shunt placement.

PMID: 19485738

Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele.

2009-07-03T09:59:00.001-05:00

Gerlach DJ, Gurnett CA, Limpaphayom N, Alaee F, Zhang Z, Porter K, Kirchhofer M, Smyth MD, Dobbs MB. (2009) Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele. Journal of Bone and Joint Surgery 2009 Jun;91(6):1350-9.

Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis Shriners Hospital for Children, St. Louis, MO 63110, USA.

BACKGROUND: Myelomeningocele is a common birth defect that is often accompanied by clubfoot deformity. Treatment of clubfoot associated with myelomeningocele traditionally has consisted of extensive soft-tissue release operations, which are associated with many complications. The purpose of the present study was to evaluate the early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele.

METHODS: Sixteen consecutive patients with myelomeningocele (twenty-eight clubfeet) and twenty consecutive patients with idiopathic clubfeet (thirty-five clubfeet) were followed prospectively while being managed with the Ponseti method. The average duration of follow-up was thirty-four months for the myelomeningocele group and thirty-seven months for the idiopathic group. Clubfoot severity was graded at the time of presentation with use of the Diméglio system. The initial correction that was achieved, casting and/or bracing difficulties, recurrences, and subsequent treatments were evaluated and compared between the two cohorts by means of appropriate statistical analysis.

RESULTS: Eleven (39%) of the twenty-eight clubfeet in the myelomeningocele group were graded as Diméglio grade IV, compared with only four (11%) of the thirty-five clubfeet in the idiopathic group (p = 0.014). Initial correction was achieved in thirty-five clubfeet (100%) in the idiopathic group and in twenty-seven clubfeet (96.4%) in the myelomeningocele group (p = 0.16). Relapse of deformity was detected in 68% of the feet in the myelomeningocele group, compared with 26% of the feet in the idiopathic group (p = 0.001). Relapses were treated successfully without the need for extensive soft-tissue release surgery for all but four of the clubfeet in the myelomeningocele group and for all but one of the clubfeet in the idiopathic group (p = 0.16).

CONCLUSIONS: Our data support the use of the Ponseti method for the initial treatment of clubfoot deformity associated with myelomeningocele, although attention to detail is crucial in order to avoid complications. Longer follow-up will be necessary to assess the risk of late recurrence and the potential need for more extensive clubfoot corrective surgery in this patient population.

PMID: 19487512

Grice arthrodesis in the treatment of valgus feet in children with myelomeningocele: a 12.8-year follow-up study.

2009-07-03T09:54:00.003-05:00

Høiness PR, Kirkhus E. (2009) Grice arthrodesis in the treatment of valgus feet in children with myelomeningocele: a 12.8-year follow-up study. Journal of Children's Orthopedics. 2009 Jun 16. [Epub ahead of print]

Rikshospitalet, National Hospital, 0027, Oslo, Norway, per.reidar.hoiness@rikshospitalet.no.

PURPOSE: Neurological deficit resulting in the lack of motor control in children with myelomeningocele often leads to a valgus position of the feet and ankles, usually in combination with planovalgus and pronation of the forefoot. The purpose of the study was to evaluate long-term patient satisfaction and clinical effects in ambulating children with lumbosacral myelomeningocele after having performed a Grice arthrodesis of a valgus unstable foot. The clinically most relevant radiographic measurements, such as the frontal and lateral talo-calcaneal angles, were used to evaluate the anatomical effects of the surgery, whereas the main research question was to reveal the patient satisfaction and usefulness of the procedure.

METHODS: The modified Grice-Green extraarticular subtalar arthrodesis was performed by the same surgeon on one standing and 22 walking patients (12 female) with lumbosacral myelomeningocele and valgus instability during the period 1985-1999. Twelve patients had bilateral surgery, giving a total of 35 operated feet. The patients attended a thorough check-up at a mean of 12.8 years (standard deviation [SD] +/- 3.2, range 7.7-20.2 years) after surgery. The mean age at surgery was 6.6 years (SD +/- 1.8) and at follow-up 19.4 years (SD +/- 3.8). Functional parameters, such as walking ability, pain and skin problems, and the need for braces and supportive orthopaedic shoes were noted at the follow-up interview. The parents were interviewed along with the patients in order to obtain all of the necessary information. Loaded radiographs in the lateral and frontal planes were taken of both feet and ankles pre-operatively and at follow-up, except for pre-operative radiographs in six patients that were not loaded and, thus, not included, except for the assessment of ankle valgus. Ankle valgus was assessed from lateral and frontal views of the ankle on a scale from grade 0 to grade 3 according to Malhotra. Frontal and lateral talo-calcaneal angles were measured for the assessment of subtalar varus or valgus. Lateral talo-first-metatarsal (Meary's) angles were measured to investigate the longitudinal arches of the feet. RESULTS: The mean lateral talo-calcaneal angle was reduced significantly (P < 001) from 55.1 degrees (SD +/- 8.9) to 38.8 degrees (SD +/- 8.1). The mean frontal talo-calcaneal angle was reduced from 24.7 degrees (SD +/- 9.7) pre-operatively to 16.6 degrees (SD +/- 6.3) at follow-up (P < 0.001). The mean lateral talo-first-metatarsal angle improved significantly from -16.1 degrees (SD +/- 24.7) pre-operatively to 0.9 degrees (SD +/- 15.1) at follow-up (P = 0.0015). The calcaneal pitch did not change significantly. In general, ankle valgus worsened during follow-up time, but not significantly (P = 0.113). The visual analogue scale (VAS) score of patient satisfaction improved significantly from 3.7 (SD +/- 1.7) prior to surgery to 7.2 (SD +/- 1.5) at follow-up (P < 0.005). Nineteen patients (83%) were satisfied with the surgery and would thus recommend the procedure.

CONCLUSIONS: Based on the radiological findings and patient satisfaction, the patients participating in this study benefited from having had Grice arthrodeses performed on their valgus unstable feet. The results indicate good long-term correctional effect on valgus deformity after Grice arthrodesis, as the talo-calcaneal and talo-first-metatarsal angles improved significantly. A great majority of the patients were content with the surgery, and none claimed that any residual deformity was the cause for any reduced ability to ambulate.

PMID: 19533196

Fetal myelomeningocele: Natural history, pathophysiology, and in-utero intervention.

2009-07-03T09:52:00.000-05:00

Adzick NS.(2009) Fetal myelomeningocele: Natural history, pathophysiology, and in-utero intervention. Seminars in Fetal and Neonatal Medicine. 2009 Jun 17. [Epub ahead of print]

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA.

Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. In-utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. It is estimated that about 400 fetal operations have now been performed for MMC worldwide. Despite this large experience, the technique remains of unproven benefit. Preliminary results suggest that fetal surgery results in reversal of hindbrain herniation (the Chiari II malformation), a decrease in shunt-dependent hydrocephalus, and possibly improvement in leg function, but these findings might be explained by selection bias and changing management indications. A randomized prospective trial (the MOMS trial) is currently being conducted by three centers in the USA, and is estimated to be completed in 2010. Further research is needed to better understand the pathophysiology of MMC, the ideal timing and technique of repair, and the long-term impact of in-utero intervention.

PMID: 19540177

Early shunt complications in 46 children with hydrocephalus.

2009-07-03T09:50:00.000-05:00

Braga MH, Carvalho GT, Brandão RA, Lima FB, Costa BS. (2009) Early shunt complications in 46 children with hydrocephalus. Arquivos de neuro-psiquiatria. 2009 Jun;67(2A):273-7.

Department of Neurosurgery, Santa Casa de Belo Horizonte, MG, Brazil.

OBJECTIVE: To determine the causes of early shunt complications in 46 children with hydrocephalus. METHOD: A retrospective study was conducted on 46 children submitted to ventriculoperitoneal shunt surgery between February 2005 and February 2007. RESULTS: Thirteen (28%) patients presented complications, which were due to infection in 9 (69%) and to malfunction of the shunt system in 4 (31%).The mean number of surgical procedures performed on patients who presented complications was 2.8 per patient, with a total of 46 surgeries in this group. All patients with infectious complications were identified during their hospital stay. CONCLUSIONS: Infection was the most common complication. The infection rate was proportional to the length of hospital stay. All patients with hydrocephalus due to tumors or myelomeningocele presented complications. A higher incidence of infections was observed in children older than 2 years.

PMID: 19547822

Fetal surgery for myelomeningocele.

2009-07-03T09:40:00.002-05:00

Hirose S, Farmer DL. (2009) Fetal surgery for myelomeningocele. Clinics in Perinatology. 2009 Jun;36(2):431-8, xi.

Division of Pediatric Surgery, Department of Surgery, Fetal Treatment Center, University of California, San Francisco, CA 94143-0570, USA. hiroses@surgery.ucsf.edu

Fetal intervention for myelomeningocele (MMC) may improve hydrocephalus and hindbrain herniation associated with the Arnold-Chiari II malformation and may reduce the need for ventriculoperitoneal shunting. As of now, there is little evidence that prenatal repair of MMC improves neurologic function. MMC is the first nonlethal disease under consideration and study for fetal surgery. As a result, potential improvements in outcome must be balanced with maternal safety and well-being, in addition to that of the unborn patient.

PMID: 19559329

Intradural inclusion cysts following in utero closure of myelomeningocele: clinical implications and follow-up findings.

2009-07-03T09:36:00.002-05:00

Danzer E, Adzick NS, Rintoul NE, Zarnow DM, Schwartz ES, Melchionni J, Ernst LM, Flake AW, Sutton LN, Johnson MP. (2008) Intradural inclusion cysts following in utero closure of myelomeningocele: clinical implications and follow-up findings.
Journal of Neurosurgery: Pediatrics. 2008 Dec;2(6):406-13.

The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia; and The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

OBJECT: The goal in this study was to evaluate the incidence and clinical implications of the development of cutaneously derived intradural inclusion cysts (ICs) following fetal myelomeningocele (fMMC) closure.

METHODS: Retrospective databases and responses to a parental questionnaire were reviewed to determine the incidence, clinical presentation, and outcomes of fMMCs in children in whom ICs developed at follow-up.

RESULTS: Prior to the National Institutes of Health (NIH)-sponsored Management of Myelomeningocele Study (MOMS), 54 patients underwent fMMC closure at the authors' institution. Sixteen (30%) presented with symptomatic tethered cord syndrome (TCS) at a median age of 27 months (range 4-93 months). Ten (63%) of the 16 (19% of the total) developed TCS in association with an intradural IC. In 9 (90%) of 10 patients, the IC was seen on preoperative MR imaging, and in 1 it was found during surgery. Four additional children (7% of the total) with evidence of an IC on surveillance MR imaging are currently asymptomatic at 94, 84, 60, and 60 months of age, respectively. All but 1 (an L-3 level lesion) IC developed in infants with L-4 and L-5 defects. After cyst removal, 6 children are asymptomatic at a median follow-up of 36 months (range 12-63 months). Following IC removal, 4 children lost normal bladder function and now require clean intermittent catheterization, and 1 lost normal leg function and now requires a walking aid for ambulation. Histologically, 8 lesions were dermoid, 1 was an epidermoid, and 1 was a mixed dermoid-epidermoid IC. Three patients developed another IC and required its removal at 24, 39, and 51 months, respectively. One required another tethered cord release within 57 months after IC removal.

CONCLUSIONS: Cutaneously derived intradural ICs can develop following fMMC surgery. Deterioration of bladder function, risk of recurrence, and loss of lower-extremity function appear to be the most important long-term complications of IC in children with fMMCs. The ongoing NIH-sponsored MOMS may help determine whether children with fMMC are at increased risk of IC development compared with children treated with postnatal MMC closure. Parents seeking fMMC closure should be informed about the possibility of IC formation and the potential clinical consequences.

PMID: 19035686

Reversal of hindbrain herniation after maternal-fetal surgery for myelomeningocele subsequently impacts on brain stem function.

2009-07-03T09:35:00.001-05:00

Danzer E, Finkel RS, Rintoul NE, Bebbington MW, Schwartz ES, Zarnow DM, Adzick NS, Johnson MP. (2009) Reversal of hindbrain herniation after maternal-fetal surgery for myelomeningocele subsequently impacts on brain stem function. Neuropediatrics. 2008 Dec;39(6):359-62.

The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

The aim of our study was to delineate whether the reversal of hindbrain herniation (HH) following fetal myelomeningocele (fMMC) closure subsequently reduces the incidence and severity of HH-associated brainstem dysfunction (BSD). Prior to the NIH-sponsored Management of Myelomeningocele Study (MOMS) trial, 54 children underwent fMMC closure at our institution. Forty-eight (89%) families participated in a structured survey focusing on HH-associated BSD (e.g., apnea, neurogenic dysphagia [ND], gastro-esophageal reflux disease [GERD], neuro-ophthalmologic disturbances [NOD]). Median age at follow-up was 72 months (range: 46-98). Fifty-percent required shunting. HH-related symptoms were completely absent in 15 (63%) non-shunted and 10 (42%) shunted children (P=0.15). No HH-related death occurred and none developed severe persistent cyanotic apnea. ND was reported in 2 (8%) non-shunted and 9 (38%) shunted infants (P=0.03). Mild GERD (medically managed) developed in 2 (8%) without and 6 (25%) with shunt placement (P=0.24). NOD was found in 6 (25%) and 13 (54%) of non-shunted and shunted children, respectively (P=0.07). The majority of fMMC children developed no or only mild BSD at follow-up. Our data support the hypothesis that neurodevelopmental deficits associated with MMC are at least partially acquired and that reversal of HH following fMMC surgery may help to reduce the incidence and severity of BSD.

PMID: 19569004

The outcome of tethered cord release in secondary and multiple repeat tethered cord syndrome.

2009-07-03T09:31:00.000-05:00

Al-Holou WN, Muraszko KM, Garton HJ, Buchman SR, Maher CO. (2009) The outcome of tethered cord release in secondary and multiple repeat tethered cord syndrome.
Journal of Neurosurgery Pediatrics. 2009 Jul;4(1):28-36.

Department of Neurosurgery, University of Michigan, Ann Arbor, Michigan.

Object After primary repair of a myelomeningocele or a lipomyelomeningocele, patients can present with symptoms of secondary tethered cord syndrome (TCS). After surgical untethering, a small percentage of these patients can present with multiple repeat TCS. In patients presenting with secondary or multiple repeat TCS, the role as well the expected outcomes of surgical untethering are not well defined. Methods Eighty-four patients who underwent spinal cord untethering after at least 1 primary repair were retrospectively evaluated using scaled and subjective outcome measures at short-term and long-term follow-up visits. Outcomes were analyzed for predictive measures using multivariate logistic regression. Results Surgical untethering was performed in 66 patients with myelomeningoceles and 18 patients with lipomyelomeningoceles. Fourteen patients underwent multiple repeat spinal cord untethering. Patients were followed up for an average of 6.2 years. Most patients had stability of function postoperatively. Motor function and weakness improved in 7 and 16% of patients at 6 months, respectively, and 6 and 19% of patients at long-term follow-up evaluation, respectively. Of the patients who presented with back pain, 75% had improvement in symptoms at 6 months postoperatively. Younger age at untethering was significantly associated with worse long-term neurological outcomes. The number of previous untethering procedures, original diagnosis, sex, anatomical level, and degree of untethering had no effect on surgical outcomes. Conclusions Patients presenting with secondary or multiple repeat TCS may benefit from surgical untethering.

PMID: 19569907

Evaluation of the levels of folate, vitamin B12, homocysteine and fluoride in the parents and the affected neonates with neural tube defect and their

2009-06-29T12:16:00.002-05:00

Ratan SK, Rattan KN, Pandey RM, Singhal S, Kharab S, Bala M, Singh V, Jhanwar A. (2008) Evaluation of the levels of folate, vitamin B12, homocysteine and fluoride in the parents and the affected neonates with neural tube defect and their matched controls. Pediatric Surgery International. Jul;24(7):803-8.

Department of Pediatric Surgery, Pandit BD Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India. drjohnsimmi@yahoo.com

The aim of this study is to evaluate the folate, vitamin B12, fluoride and homocysteine levels in newborns with neural tube defect (NTD) and their parents. The study included 35 neonates with NTD and their parents, 31 neonates with congenital anomalies other than NTD formed control 1, 24 neonates with no anomalies, with the highest birth order and normal siblings formed control 2. These groups matched for socio-economic and nutritional status. Demographic, antenatal history, parental habits, folate (RBC, whole blood and serum), serum vitamin B12 and homocysteine levels were estimated using chemiluminescence technology. Chi-square test was used to assess association between factors and the outcome. One-way ANOVA was used to compare means in the three groups. To determine the risk factors for NTD, odds ratios (95% CI) was computed using bivariate and multivariate logistic regression analysis (STATA 9.0). No difference was found between NTD group and 'control 1' group. The fathers in NTD group had significantly lower folate and vitamin B12 and a higher homocysteine, in comparison to 'control 2' group (i.e. with normal babies). The babies with NTD had higher homocysteine while their mothers had significantly low folate levels in comparison to 'control 2' mothers. Low RBC folate, low serum vitamin B12 and high plasma homocysteine in both the parents had an association with NTD. Multivariate logistic regression revealed high homocysteine of father as the only independent significant risk factor [OR(95% CI):2.6(2.6, 226)] for NTD and also for other anomalies. NTD (and other congenital anomalies) may not only be due to nutritional deficiency in the mothers but also due to more intricate gene-nutrient interaction defects in the affected families, probably some abnormal folate-homocysteine metabolism. These defects seem to be affect the fathers more severely and in all likelihood, get transmitted to the babies from either or both the parents. The emergence of father's serum homocysteine levels as an independent risk factor for NTD and also other congenital anomalies calls for further studies to evaluate if this can be taken as a marker for congenital anomalies in the fetus during antenatal screening.

PMID: 18463884

Vitamin B12 insufficiency and the risk of fetal neural tube defects.

2009-06-29T12:13:00.001-05:00

Ray JG, Blom HJ. Vitamin B12 insufficiency and the risk of fetal neural tube defects. QJM. 2003 Apr;96(4):289-95. Review.

Division of Obstetrical Medicine, Department of Medicine, Sunnybrook and Women's College Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada. jray515445@aol.com

BACKGROUND: Although maternal folate insufficiency is a risk factor for fetal neural tube defects (NTDs), there is controversy about whether vitamin B12 (B12) insufficiency is also associated with an increased risk of NTDs. AIM: To investigate whether low maternal B12 is associated with an increased risk of fetal NTDs. DESIGN: Systematic review.

METHODS: A systematic search of Medline between 1980 and October 2002, with an examination of the citations of all retrieved studies. Studies were included that: (i) used a cohort or case-control design; (ii) included case mothers with a prior or current NTD-affected pregnancy; (iii) assessed a group of unaffected 'controls'; and (iv) measured the vitamin B12 status of all participants.

RESULTS: Overall, 17 case-control studies were included, mean sample size 33 cases and 93 controls. In 5/6, mean amniotic fluid B12 concentration was significantly lower in case mothers than in controls. Of 11 that measured maternal serum or plasma B12, three observed a significantly lower mean concentration in case mothers vs. controls, while five others found a non-significant lower trend in the case group. One study observed a significantly higher mean concentration of maternal serum methylmalonic acid among the maternal cases, while another found a non-significant lower mean concentration of plasma holo-transcobalamin. Five studies estimated the risk of NTDs in relation to low B12 or B12-related metabolic markers: it was significantly increased in three studies, with a non-significant trend in the fourth.

DISCUSSION: There seems to be a moderate association between low maternal B12 status and the risk of fetal NTDs. However, several design limitations, and the inclusion of few study participants, may have under-represented this. A large observational study, using reliable and valid indicators of B12 status in early pregnancy, could best assess the association between B12 insufficiency and the risk of fetal NTDs.

PMID: 12651973

Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.

2009-06-29T12:10:00.001-05:00

Gaber KR, Farag MK, Soliman SE, El-Bassyouni HT, El-Kamah G. (2007) Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.
Clinical Laboratory. 2007;53(1-2):69-75.

Prenatal Diagnosis and Fetal Medicine Department, National Research Centre, Cairo, Egypt.

OBJECTIVE: Folic acid insufficiency is a known risk factor for neural tube defects (NTDs), while the role of vitamin B12 is questionable. Thus, our purpose was to investigate whether low maternal serum vitamin B12 is associated with an increased risk of NTDs.

SETTING: Prenatal Diagnosis and Clinical Genetics Clinics, National Research Centre, in collaboration with the Radioisotope Department, Nuclear Research Centre, Cairo.

MATERIALS AND METHODS: The study groups included 36 women who were, or had been, pregnant with a NTD-affected fetus. The control groups comprised 35 healthy women with normal prior or current pregnancy and uncomplicated obstetric histories. Fasting plasma homocysteine, serum folate and cobalamin (vitamin B12) were determined. Odds ratio (OR) and 95% confidence intervals were calculated.

RESULTS: The fasting homocysteine was significantly higher in the study groups as compared to the controls. The median serum folate concentrations were similar in cases and controls, while the median vitamin B12 concentrations were significantly lower in the study groups compared to the controls. Low vitamin B12 concentration was associated with an approximately 2- to 3-fold increased risk for NTDs.

CONCLUSION: Low maternal serum values of vitamin B12 can be considered an important etiologic factor for the development of neural tube defects in our population. This may help in both genetic counseling for families with a history of NTD malformation, and as a pre-conceptional prophylactic measure by maternal supplementation of vitamin B12 and folic acid.

PMID: 17323828

Endoscopic third ventriculostomy: an outcome analysis of primary cases and procedures performed after ventriculoperitoneal shunt malfunction.

2009-06-29T11:32:00.001-05:00

O'Brien DF, Javadpour M, Collins DR, Spennato P, Mallucci CL. (2005) Endoscopic third ventriculostomy: an outcome analysis of primary cases and procedures performed after ventriculoperitoneal shunt malfunction. Journal of Neurosurgery. 2005 Nov;103(5 Suppl):393-400.

Department of Neurosurgery, Royal Liverpool Children's Hospital NHS Trust, Liverpool, United Kingdom.

OBJECT: The authors analyzed the role of endoscopic third ventriculostomy (ETV) as a primary treatment for hydrocephalus and also as an alternative to shunt revision for malfunctioning and infected ventriculoperitoneal (VP) shunts.

METHODS: A retrospective analysis of clinical notes, operation records, and magnetic resonance imaging procedures before and after ventriculostomy was performed to determine the success or failure of ETVs in 170 patients who underwent a primary ETV and in 63 patients who underwent an ETV for shunt malfunction (secondary ETV). The patients' data were derived from an endoscopy database inaugurated in 1998. Of the 63 patients with shunt malfunctions, 49 patients (78%) had mechanical malfunction only and 14 patients (22%) had both infection and malfunction. Seventy-four percent (126 of 170) of patients in the primary ETV group and 70% (44 of 63) of patients in the secondary ETV had a successful outcome at the time of analysis. The success rate for ETVs in cases involving a mechanical shunt malfunction alone was 67% (33 of 49) compared with 79% (11 of 14) in those cases involving an infected shunt. The origin of the hydrocephalus in the primary and shunt malfunction groups was evaluated as a factor contributing to the success of the ETV. In the primary group, patients with a history of intraventricular hemorrhage (IVH) and meningitis as a cause for hydrocephalus had a poor rate of success after the ETV--27% (four of 15) and 0% (none of two), respectively. This pattern was not seen in the series involving shunt malfunction after the ETV, with 71% (five of seven) and 75% (three of four) of cases having a hydrocephalus origin of IVH and meningitis, respectively, in which a successful outcome was attained. A two-way mixed-model analysis of variance yielded a significant effect for origin (p = 0.011), a significant interaction between group and origin (p = 0.028), and a marginally nonsignificant effect of group (p = 0.0686). More than 95% of failures were evident within 1 month of the ETV in both groups. Complications were minimal in both groups, and there were no procedure-related deaths.

CONCLUSIONS: An ETV is a safe procedure with few complications and a high success rate in both primary and secondary groups. An ETV to address shunt malfunction, unlike a primary ETV, is not particularly origin specific. A bonus is its success in dealing with infected shunts. Most failures will be evident early, but long-term follow up is vital.

PMID: 16302610

Complications of endoscopic third ventriculostomy in previously shunted patients.

2009-06-29T11:28:00.001-05:00

Hader WJ, Walker RL, Myles ST, Hamilton M. (2008) Complications of endoscopic third ventriculostomy in previously shunted patients. Neurosurgery. 2008 Jul;63(1 Suppl 1):ONS168-74; discussion ONS174-5.

Division of Neurosurgery, Department of Clinical Neurosciences, University of Calgary, Calgary, Canada.

OBJECTIVE: Endoscopic third ventriculostomy (ETV) is considered to be a safe and effective treatment in selected patients as an initial treatment for obstructive hydrocephalus and at the time of shunt malfunction in previously shunted patients. We compared the outcome and complications of ETV between patients with newly diagnosed hydrocephalus and those with previous shunting procedures.

METHODS: A retrospective review of patients undergoing ETV from 1996 to 2004 at Alberta's Childrens Hospital and Foothills Medical Centre was completed. Patient data included symptoms at clinical presentation, cause of hydrocephalus, age at initial shunt, number of previous shunt revisions, age at ETV, complications, and subsequent shunting procedures performed.

RESULTS: A total of 131 patients were identified with a minimum follow-up duration of 1 year; 71 (82.5%) of 86 patients who underwent ETV as a primary procedure and 36 (80%) of 45 patients who had ETV at the time of shunt malfunction were shunt-free at the last follow-up evaluation. Patients younger than 1 year old who underwent ETV were more likely to require an additional procedure for control of their hydrocephalus (P < 0.01). Serious complications after ETV occurred more frequently in patients who presented at the time of shunt malfunction (14 of 45 patients, 31%) compared with patients who underwent primary ETV (seven of 86 patients, 8%) (P = 0.02). Previously shunted patients with a history of two or more revisions (P = 0.03) and who experienced a serious complication at the time of ETV (P = 0.01) were more likely to require shunt replacement.

CONCLUSION: ETV is an effective treatment both in selected patients with newly diagnosed hydrocephalus and in patients with a previous shunting procedure who are presenting with malfunction. Complications of ETV occur more frequently in previously shunted patients than in patients treated for newly diagnosed hydrocephalus, and care must be taken in the selection and treatment of these patients.

PMID: 18728596

Endoscopic third ventriculostomy for malfunction in previously shunted infants.

2009-06-29T11:26:00.002-05:00

Bilginer B, Oguz KK, Akalan N. (2009) Endoscopic third ventriculostomy for malfunction in previously shunted infants. Child's Nervous System. Jun;25(6):683-8.

Department of Neurosurgery, Hacettepe University School of Medicine, Ankara, Turkey. burcak@tr.net

INTRODUCTION: The usage of endoscopic third ventriculostomy (ETV) as an alternative to shunt revision in the management of shunt malfunction is gaining popularity. METHODS: We review the clinical data of 45 patients who underwent ETV because of ventriculopritoneal shunt malfunction at Hacettepe University School of Medicine Department of Neurosurgery between January 2002 and August 2007. Medical records of the patients were retrospectively studied.

RESULTS: Male-to-female ratio was 23/22. The cause of the hydrocephalus was aqueduct stenosis in 21 (46.9%) patients, newborn meningitis in nine (20%) patients, tumor in six (13.3%) patients, newborn intraventricular hemorrhage in four (8.8%) patients, myelomeningocele in three (6.6%), and trauma in two (2.2%) patients. Of the patients, 27 (60%) had triventricular and 18 (40%) had tetraventricular hydrocephalus at their radiologic evaluation. On admission, all patients had at least one episode of shunt dysfunction prior to ETV. Follow-up duration after surgery was 1-5 years (mean 2.46 +/- 1.64 years). Postoperative cerebrospinal fluid flow studies using the cine-PC MR imaging were performed on all patients. The overall success rate for ETV after shunt malfunction was 80% with 36 patients and failure rate was 20% with nine patients. All of these nine patients had undergone shunt insertion within 10 days-1 month after unsuccessful ETV.

CONCLUSION: Endoscopic third ventriculostomy is an effective treatment for shunt malfunction.

PMID: 19082608

Elective cesarean delivery and long-term motor function or ambulation status in infants with meningomyelocele.

2009-06-29T11:20:00.002-05:00

Lewis D, Tolosa JE, Kaufmann M, Goodman M, Farrell C, Berghella V. (2004) Elective cesarean delivery and long-term motor function or ambulation status in infants with meningomyelocele. Obstetrics and Gynecology. Mar;103(3):469-73.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, USA. DAML2@aol.com

OBJECTIVE: To determine if elective cesarean delivery, when compared with trial of labor, is associated with better long-term motor function or ambulation status in infants with myelomeningocele.

METHODS: This is a retrospective cohort study of patients with myelomeningocele followed at the Spinal Dysfunction Program at Alfred I. duPont Hospital for Children in Wilmington, Delaware. Medical records were reviewed for gestational age at delivery, birthweight, anatomical level of lesion, and initial (0-6 months) and long-term (10 years or longer) motor function. Ambulation status (independent ambulation, ambulant with assistance, or wheelchair-bound) at 2 and 10 years was compared with those delivered by elective cesarean versus those delivered after trial of labor. RESULTS: Of the 106 patients with myelomeningocele that were identified, 87 (82%) had all the data required for this review. There were 44 patients in the elective cesarean group and 43 in the trial of labor group. There was no significant difference in gestational age at delivery or birthweight between the groups. There was statistical difference between the 2 groups when anatomical, initial, and current motor levels were compared. Compared with the elective cesarean group, patients in the trial of labor group were more likely to be ambulatory at 2 years (independently ambulant 7% versus 28%, ambulant with assistance 63% versus 65%, or wheelchair-bound 30% versus 7%, P =.003) and at 10 years (independently ambulant 5% versus 21%, ambulant with assistance 30% versus 54%, or wheelchair-bound 65% versus 25%, P <.001). However, when logistic regression analysis was used to control for motor level of myelomeningocele, no significant association was observed in ambulatory status at ages 2 and 10 years between infants delivered by elective cesarean or after trial of labor.

CONCLUSION: Elective cesarean delivery, when compared with delivery after trial of labor, was not associated with better motor function or ambulation status in myelomeningocele patients. LEVEL OF EVIDENCE: II-2

PMID: 14990408

Lower Extremity Neuromotor Function and Short-Term Ambulatory Potential following in utero Myelomeningocele Surgery.

2009-06-29T11:14:00.002-05:00

Danzer E, Gerdes M, Bebbington MW, Sutton LN, Melchionni J, Adzick NS, Wilson RD, Johnson MP. Lower Extremity Neuromotor Function and Short-Term Ambulatory Potential following in utero Myelomeningocele Surgery. Fetal Diagnosis and Therapy. Jan 28;25(1):47-53.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pa., USA.

Objective: To evaluate lower extremity neuromotor function (LENF) and short-term ambulatory potential following fetal myelomeningocele (fMMC) closure. Methods: Retrospective chart review of 54 children that underwent fMMC closure at our institution prior to the NIHCD-MOMS trial. Neonatal LENF was compared to predicted function based on spinal lesion level assigned by prenatal ultrasound. Ambulatory status was classified as independent walkers (walks without assistive appliances), assisted walker (requires walking aid), and non-ambulatory (wheelchair bound). Results: Thoracic, lumbar, and sacral level lesions were present in 4, 44 and 6 fMMC infants, respectively. 31/54 of fMMC children (57.4%; median: 2 levels, range: 1-5) had better than predicted, 13/54 (24.1%) same as predicted and 10/54 (18.5%; median: 1 level, range: 1-2) worse than predicted LENF at birth. At a median follow-up age of 66 months (36-113), 37/54 (69%) walk independently, 13/54 (24%) are assisted walkers, and 4/54 (7%) are wheelchair dependent. The strongest factors predicting a lower likelihood to walk independently were higher-level lesion (>L4, p = 0.001) and the development of clubfoot deformity after fetal intervention (p = 0.026). Despite the observed improved ambulatory status, structured evaluation of coordinative skills revealed that the majority of independent ambulators and all children that require assistive devices to walk experience significant deficits in lower extremity coordination. Conclusions: We observed that fMMC surgery in this highly selective population results in better than predicted LENF at birth and short-term ambulatory status. However, fMMC toddlers continue to demonstrate deficits in movement coordination that are characteristic for children with spina bifida.

PMID: 19174610

Neural tube defects in the sample of genetic counseling.

2009-06-29T11:08:00.001-05:00

Joó JG, Beke A, Papp C, Tóth-Pál E, Csaba A, Szigeti Z, Papp Z. (2009) Neural tube defects in the sample of genetic counseling. Prenatal Diagnosis. 2007 Oct;27(10):912-21.

1st Department of Obstetrics and Gynaecology, Faculty of General Medicine, Semmelweis University, Hungary. joogabor@hotmail.com

OBJECTIVE: This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years.

METHODS: The investigations were made into the sample of 743 NTD diagnosed between 1 January 1976 and 31 December 2002. A computerized database was used to sum up the available information about the individual cases; in addition to surveying the couples' major demographic details, we also had the opportunity to collect detailed information about the history, diagnostics (ultrasound) and outcome of the pregnancies as well as the results of the autopsies during the investigation.

RESULTS: In the 743 cases of NTD, maternal and paternal median ages turned out to be 23.7 years (+/-5.22 years) and 28.7 years (+/-5.81 years), respectively. The male:female ratio was 0.78. Comparable samples of anencephaly and spina bifida allowed for the conclusion that a positive genetic history was equally often found while a positive obstetrical history was almost twice as common in anencephaly. The sensitivity of the maternal serum-alpha fetoprotein (AFP) screening test is the highest in anencephaly and lowest in encephalocele. While the majority of cases of anencephaly were diagnosed before the 24th gestational week, examples of diagnosing spina bifida and encephalocele at a later time could also be found. Among the associated malformations other than those of the central nervous system special mentioning should be made of fetal pyelectasia, cleft palate as well as diaphragmatic herniation. No pathological karyotypes were found in association with encephalocele or spina bifida, but anencephaly was accompanied with trisomy 21 and trisomy 18 in one case each. Anencephaly was found to have the highest risk of recurrence in both nervous system malformations and malformations other than those of the nervous system. Sonography proved to be the most reliable method in cases of enecephalocele.

CONCLUSION: The respective median values of maternal and paternal age show that aetas has no role in the occurrence of NTDs. NTDs are more common among girls. Positive genetic, obstetrical and medical findings are of great importance in the incidence of NTDs. Although reliable to only a limited extent, maternal serum-AFP tests are considered to be useful and necessary in screening NTDs, while sonography is the gold standard method in recognizing these frequent malformations. The knowledge of the eventual associated malformations is mainly important in certain cases of spina bifida, which may also yield a good post-natal prognosis. Our data obtained from the sample of 26 years also confirm that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of NTDs.

PMID: 17602445

Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles.

2009-06-29T11:02:00.003-05:00

Thompson DN. (2009) Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles. Prenatal Diagnosis. Apr;29(4):412-9.

Department of Neurosurgery, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK. thompd@gosh.nhs.uk

The incidence of neural tube defects (NTDs) has declined in recent decades, however myelomeningocele and encephalocele still represent one of the commoner prenatally diagnosed congenital malformations. Improved perinatal and post natal care mean that the mortality associated with these conditions has also fallen. Advances in the multidisciplinary management of children with myelomeningocele have led to significant improvements in functional outcome for many with this condition. However, there remains a substantial population of patients born with NTDs whose life expectancy is substantially reduced and who suffer significant cognitive and physical disability remaining wholly or partially dependant on the care of others into adult life. This article aims to outline the contemporary early management of these conditions and examine the prospects for functional outcome where possible, attempting to show how early anatomical features of these conditions can help predict where, along the wide spectrum of outcome, a given individual may lie.

PMID: 19194999

Botulinum toxin-A (Botox) intradetrusor injections in children with neurogenic detrusor overactivity/neurogenic overactive bladder: a systematic liter

2009-06-29T10:57:00.001-05:00

Gamé X, Mouracade P, Chartier-Kastler E, Viehweger E, Moog R, Amarenco G, Denys P, De Seze M, Haab F, Karsenty G, Kerdraon J, Perrouin-Verbe B, Ruffion A, Soler JM, Saussine C. (2009) Botulinum toxin-A (Botox) intradetrusor injections in children with neurogenic detrusor overactivity/neurogenic overactive bladder: a systematic literature review. Journal of Pediatric Urology. 2009 Jun;5(3):156-64.

Hôpital Rangueil, Toulouse, France. xaviergame@hotmail.com

OBJECTIVES: Describe and discuss the efficacy and safety of botulinum toxin type A (BTX-A) intradetrusor injections in children with neurogenic detrusor overactivity (NDO) and urinary incontinence or overactive bladder symptoms of neurogenic origin (NOAB).

METHODS: A MEDLINE and EMBASE search for clinical studies involving BTX-A injected into the detrusor of children with NDO or NOAB was performed, prior to data analysis.

RESULTS: A total of six articles evaluating the efficacy and safety of Botox in patients with NDO and incontinence/NOAB were selected. The underlying neurological disease was myelomeningocele in 93% of patients. Most were over 2 years of age. The most common amount of Botox injected was 10-12 U/kg with a maximal dose of 300 U, usually as 30 injections of 10 U/ml in the bladder (excluding the trigone) under cystoscopic guidance and general anaesthesia. Most of the studies reported a significant improvement in clinical (65-87% became completely dry) as well as urodynamic (in most studies mean maximum detrusor pressure was reduced to <40 cm H(2)O and compliance was increased >20 ml/cm H(2)O) variables, without major adverse events.

CONCLUSIONS: Botox injections into the detrusor provide a clinically significant improvement and seem to be very well tolerated in children with NDO and incontinence/NOAB refractory to antimuscarinics.

PMID: 19264554

The changing incidence of myelomeningocele and its impact on pediatric neurosurgery: a review from the Children's Memorial Hospital.

2009-06-29T10:50:00.003-05:00

Bowman RM, Boshnjaku V, McLone DG. (2009) The changing incidence of myelomeningocele and its impact on pediatric neurosurgery: a review from the Children's Memorial Hospital. Child's Nervous System. Jul;25(7):801-6.

Division of Neurosurgery, Children's Memorial Hospital, 2300 Children's Plaza, P. O. Box 28, Chicago, IL 60614, USA. RBowman@childrensmemorial.org

INCIDENCE: Worldwide, the incidence of neural tube defects (NTDs) varies from 0.17 to 6.39 per 1,000 live births. The declining prevalence of myelomeningocele, the most common NTD, is secondary to several factors including folic acid fortification, prenatal diagnosis with termination of affected fetuses, and unknown factors.

IMPACT OF CHANGES: Of those born with myelomeningocele, survival during infancy and preschool years has improved over the last 25 years (Bowman et al., Pediatr Neurosurg 34:114-120). Fewer newborns today require shunt placement, which will hopefully improve the long-term mortality associated with this disease (Chakraborty et al., J Neurosurg Pediatr 1(5):361-365, unpublished data). Of a cohort born in 1975-1979 and treated at a single US institution, 74% have survived into young adulthood.

CLINICAL IMPLICATIONS: One of the greatest challenges facing these young adults is the transitioning of their medical care into an adult medical community.

PMID: 19326126

Fetal myelomeningocele: Natural history, pathophysiology, and in-utero intervention.

2009-06-29T10:42:00.000-05:00

Adzick NS. (2009) Fetal myelomeningocele: Natural history, pathophysiology, and in-utero intervention. Seminars in Fetal & Neonatal Medicine. 2009 Jun 17.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA.

Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. In-utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. It is estimated that about 400 fetal operations have now been performed for MMC worldwide. Despite this large experience, the technique remains of unproven benefit. Preliminary results suggest that fetal surgery results in reversal of hindbrain herniation (the Chiari II malformation), a decrease in shunt-dependent hydrocephalus, and possibly improvement in leg function, but these findings might be explained by selection bias and changing management indications. A randomized prospective trial (the MOMS trial) is currently being conducted by three centers in the USA, and is estimated to be completed in 2010. Further research is needed to better understand the pathophysiology of MMC, the ideal timing and technique of repair, and the long-term impact of in-utero intervention.

PMID: 19540177

Assistive technology use among adolescents and young adults with spina bifida.

2009-06-29T10:34:00.002-05:00

Johnson KL, Dudgeon B, Kuehn C, Walker W. (2007) Assistive technology use among adolescents and young adults with spina bifida. American Journal of Public Health. 2007 Feb;97(2):330-6.

School of Medicine, University of Washington, Seattle, WA 98195, USA. kjohnson@u.washington.edu

OBJECTIVES: We sought to determine the use of assistive technology among a population of individuals with spina bifida.

METHODS: We performed a descriptive analysis of individuals aged 13 to 27 years diagnosed with myelomeningocele (n=348) using data obtained from an existing database at Children's Hospital and Regional Medical Center, Seattle, Washington. We summarized disease characteristics, utilization of assistive technology, community and self-care independence, and other variables.

RESULTS: Eighty-four percent of the respondents lived with at least 1 of their natural parents. Fifty-seven percent used wheelchairs, 35% used braces, and 23% used walking aids. Independent self-care was a common skill, but 72% reported limited participation in structured activities. Half were aged 18 years or older; of those, only 50% had completed high school and 71% were unemployed. Those aged younger than 18 years were all still in school (100%).

CONCLUSIONS: Adolescents and young adults with spina bifida rely on assistive technology and specialized care routines to maintain their health. Assistive technology use for mobility is common; little is known about secondary complications associated with use of these technologies or the use of assistive technology to address learning disabilities and other societal barriers. Underutilization of assistive technology could delay successful transitions to independent living and community participation.

PMID: 17194874

Mobility, assistive technology use, and social integration among adults with spina bifida.

2009-06-29T10:31:00.002-05:00

Dicianno BE, Gaines A, Collins DM, Lee S. (2009) Mobility, assistive technology use, and social integration among adults with spina bifida. American Journal of Physical Medicine and Rehabilitation. Jul;88(7):533-41.

Human Engineering Research Laboratories, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

OBJECTIVE: Many individuals with spina bifida have impairments that limit mobility and functional independence. Sedentary lifestyles and social isolation are very prevalent. This study evaluated the association between the use of mobility devices and degree of socialization.

DESIGN: A retrospective chart review was performed on 208 adults with spina bifida attending a university-based clinic. Data collected included the Craig Handicap Assessment Reporting Technique-Short Form, Beck Depression Inventory, and data on wheelchair and other assistive technology use. We hypothesized that community and home mobility and social integration, as measured by the Craig Handicap Assessment Reporting Technique-Short Form, would be lower for manual and power wheelchair users than for ambulators, regardless of depression scores or shunt history.

RESULTS: We found that individuals with spina bifida who used both manual and power wheelchairs do have lower daily home and community activity levels compared with ambulators, but that most individuals with spina bifida have low social integration and economic self-sufficiency scores, regardless of whether they can ambulate or use wheelchairs. These findings were not explained by wheelchair quality because most were prescribed high-quality devices. A high prevalence of depression was also found.

CONCLUSIONS: Special considerations for wheelchair provision are discussed. Additional research is needed to identify other barriers to social integration.

PMID: 19542778

Problematic aspects of faecal incontinence according to the experience of adults with spina bifida.

2009-06-29T10:25:00.001-05:00

Johnsen V, Skattebu E, Aamot-Andersen A, Thyberg M. (2009) Problematic aspects of faecal incontinence according to the experience of adults with spina bifida.
Journal of Rehabilitation Medicine. Jun;41(7):506-11.

TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway.

OBJECTIVE: To describe problematic aspects of faecal incontinence according to the experience of adults with spina bifida.

DESIGN: Qualitative interview study.

SUBJECTS: Eleven adults with spina bifida and bowel problems.

METHOD: Semi-structured open-ended interviews and qualitative analysis.

RESULTS: Problematic aspects were related to participation in terms of time consumption, communication, social isolation, love and sexuality, and accessibility. Also, to a sense of helplessness in terms of panic and worry, to a sense of shame in terms of impurity, social acceptance and self-image, and to bowel function in terms of decisions about colostomy, voluntary constipation, and changing patterns.

CONCLUSION: The results reveal aspects relevant to supporting clinical practice and suggesting issues for questionnaire studies.

PMID: 19543660

After the honeymoon comes divorce: long-term use of the antegrade continence enema procedure.

2009-06-19T09:27:00.003-05:00

Yardley IE, Pauniaho SL, Baillie CT, Turnock RR, Coldicutt P, Lamont GL, Kenny SE. (2009) After the honeymoon comes divorce: long-term use of the antegrade continence enema procedure. Journal of Pediatric Surgery. 2009 Jun;44(6):1274-6; discussion 1276-7.

Department of Paediatric Surgery, Alder Hey Children's Hospital, Liverpool, UK.

BACKGROUND: Having reported that 18% of children discontinue use of the antegrade continence enema (ACE) after 5 years, we aimed to determine long-term use after an ACE procedure.

METHODS: A postal/telephone questionnaire was conducted. Subjects were consecutive children undergoing an ACE between 1993 and 1999. Outcome measures were use of ACE, reasons for nonuse, complications, and overall satisfaction.

RESULTS: Of 84 eligible subjects, data were available on 61 (73%) aged 22.4 years (15.5-35.1 years). Underlying diagnoses included spina bifida (n = 27), anorectal malformations (n = 18), constipation (n = 11), Hirschsprung's disease (n = 1), sacral agenesis (n = 2), and trauma/tumor (n = 2). Follow-up was 11.02 years (8.34-14.39 years). Thirty-six (59%) of 61 patients were still using their ACE. Reasons for nonuse were lack of effectiveness (n = 14), complications (n = 5), psychologic issues (n = 2), and poor compliance (n = 2). There was no association between diagnosis and nonuse (chi(2), P = .63). In those still using ACE, the overall satisfaction score was 4.1 (1-5). Several individuals reported feeling abandoned on becoming adults and losing the support they had in childhood.

CONCLUSION: There is a late "failure" rate for the ACE procedure. However, satisfaction was high among those still using the ACE. This study further emphasizes the need for robust transitional care arrangements.

PMID: 19524753

Treatment of fecal incontinence with a comprehensive bowel management program.

2009-06-19T09:23:00.002-05:00

Bischoff A, Levitt MA, Bauer C, Jackson L, Holder M, Peña A. (2009) Treatment of fecal incontinence with a comprehensive bowel management program. Journal of Pediatric Surgery. 2009 Jun;44(6):1278-83; discussion 1283-4.

Department of Pediatric Surgery, Colorectal Center for Children, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

PURPOSE: Many articles describe the antegrade continence enemas (ACEs), but few refer to a bowel management program. A successful ACE may not help a patient without such management. Valuable lessons were learned by implementation of bowel management in 495 fecally incontinent patients.

METHODS: We previously reported 201 patients. Thereafter, another 294 patients participated in our program. On the basis of a contrast enema and symptoms, they were divided as follows: (a) 220 constipated patients and (b) 74 patients with tendency toward diarrhea. Colonic stool was monitored with abdominal radiographs, modifying the management according to the patient's response and radiologic findings. For constipated patients, the emphasis was on using large enemas. For patients with tendency toward diarrhea, we used small enemas, a constipating diet, loperamide, and pectin. Diagnoses included anorectal malformation (223), Hirschsprung's (36), spina bifida (12), and miscellaneous (23).

RESULTS: The management was successful in 279 patients (95%)-higher in constipated patients (98%) and less successful in patients with tendency toward diarrhea (84%).

CONCLUSIONS: The key to a successful bowel management program rests in tailoring the type of enema, medication, and diet to the specific type of colon. The best way to determine the effect of an enema is with an abdominal film. The ACE procedures should be recommended only after successful bowel management.

PMID: 19524754

Long-term follow-up of Chiari pelvic osteotomy in myelomeningocele.

2009-06-08T16:50:00.000-05:00

Mannor DA, Weinstein SL, Dietz FR. Long-term follow-up of Chiari pelvic osteotomy in myelomeningocele. Journal of Pediatric Orthopedics. 1996 Nov-Dec;16(6):769-73.

Department of Orthopaedic Surgery, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

The management of hip instability in myelomeningocele patients is controversial. The purpose of this study is to review our long-term results of isolated Chiari osteotomies in the treatment of hip instability in children with myelomeningocele. Between 1975 and 1988, 11 patients underwent 13 Chiari osteotomies for reducible hip subluxation or dislocation and acetabular deficiency. The patients returned for follow-up clinical examinations, interviews, and radiographs. The average age at the time of surgery was 9.4 years (range, 5-18). The average age at follow-up was 18 years (range, 13-23). The average follow-up was 11.4 years (range, 2-18). The mean preoperative center-edge (CE) angle was -38 degrees. The mean immediate postoperative CE angle was 41 degrees. At final follow-up, the mean CE angle was 4.6 degrees. Only three of the 10 hips had a normal CE angle of > or = 25 degrees. The Chiari osteotomy alone did not achieve long-term hip stability in the majority of patients. Several, if not most, of our patients may progress to frank dislocation with longer follow-up.

PMID: 8906650

Gait analysis in low lumbar myelomeningocele patients with unilateral hip dislocation or subluxation.

2009-06-08T16:48:00.001-05:00

Gabrieli AP, Vankoski SJ, Dias LS, Milani C, Lourenco A, Filho JL, Novak R. Gait analysis in low lumbar myelomeningocele patients with unilateral hip dislocation or subluxation. Journal of Pediatric Orthopedics. 2003 May-Jun;23(3):330-4.

Children's Memorial Hospital/Northwestern University Medical School, 680 North Lake Shore Drive, Chicago, IL 60611, USA.

The surgical indications for the treatment of unilateral hip dislocations or subluxations in patients with low lumbar myelomeningocele remain highly debatable. This study examines the influence of unilateral hip dislocation or subluxation on the gait of these patients using three-dimensional gait analysis. Twenty patients with a diagnosis of low lumbar myelomeningocele underwent three-dimensional gait analysis. All patients were community ambulators with solid ankle-foot orthoses and crutches who presented with unilateral hip dislocation or subluxation and no scoliosis. The patients were divided in two groups. Group 1 comprised 10 patients who demonstrated either no evidence of hip flexion or adduction contractures or symmetric hip contractures. Group 2 comprised 10 patients with unilateral hip flexion and/or adduction contractures. Pelvic and hip kinematics were assessed to determine the symmetry of motion between the involved and the noninvolved side during walking. Seven patients from group 1 walked with a symmetric gait pattern; only two patients from group 2 walked with a symmetric pattern. Gait symmetry corresponded to the absence of hip contractures or bilateral symmetrical hip contractures and had no relation to the presence of hip dislocation. The authors concluded that reduction of the hip is unnecessary.

PMID: 12724595

Associations between orthopaedic findings, ambulation and health-related quality of life in children with myelomeningocele.

2009-06-08T16:46:00.001-05:00

Danielsson AJ, Bartonek A, Levey E, McHale K, Sponseller P, Saraste H.Associations between orthopaedic findings, ambulation and health-related quality of life in children with myelomeningocele. Journal of Children's Orthopedics. 2008 Feb;2(1):45-54.

Department of Orthopaedics, Sahlgrenska University Hospital, 413 45, Göteborg, Sweden, danielsson.aina@telia.com.

PURPOSE: Modern principles for treatment of patients with myelomeningocele include early closure of the neural tube defect, neurosurgical treatment of hydrocephalus and treatment aimed at minimizing contractures and joint dislocations. The aim is to achieve a better survival rate and a better quality of life (QOL). Better ambulatory function is thought to improve the management of activities of daily living. This study focused on evaluating which factors might affect ambulation, function and health-related QOL in children with myelomeningocele.

METHODS: Thirty-eight patients with neurological deficit from myelomeningocele were examined in an unbiased follow-up. This included a physical examination using validated methods for ambulatory function and neuromuscular status, chart reviews and evaluation of radiographs in terms of hip dislocation and spine deformity. The Pediatric Evaluation of Disability Inventory (PEDI) was used to measure mobility, self-care and social function, and the Child Health Questionnaire (CHQ-PF50) was used to measure QOL.

RESULTS: Muscle function class, quadriceps strength, spasticity in hip and/or knee joint muscles and hip flexion contracture as well as the ambulatory level all affected functional mobility as well as self-care/PEDI. Patients with hip dislocation, spinal deformity or those who were mentally retarded also had significantly worse functional mobility. Besides being affected by the severity of the neurological lesion, self-care/PEDI was significantly impaired by hip flexion contracture and absence of functional ambulation. General health-related QOL was significantly lower in this patient group than for US norms. Nonambulatory and mentally retarded patients had a significantly lower physical function of their QOL (CHQ).

CONCLUSIONS: The severity of the disease, i.e. reduced muscle strength and occurrence of spasticity around hip/knee, affected ambulation, functional mobility and self-care. Acquired deformities (hip dislocation and spine deformity) affected functional ambulation only. Patients with reduced functional mobility and self-care experienced lower physical QOL. Children with myelomeningocele had significantly reduced QOL compared to healthy individuals.

PMID: 19308602

The natural history of hip dislocations in ambulatory myelomeningoceles.

2009-06-08T16:44:00.000-05:00

Sherk HH, Melchionne J, Smith R. The natural history of hip dislocations in ambulatory myelomeningoceles. Z Kinderchir. 1987 Dec;42 Suppl 1:48-9.

Division of Orthopedics and Rehabilitation, Medical College of Pennsylvania, Philadelphia 19129.

We studied 22 myelomeningocele patients with strong quadriceps and good ambulatory capability who had a dislocated hip. These patients did not have hip pain, had good to excellent hip motion and could sit with no difficulty. All but one was a good to excellent community ambulator with crutches and orthoses. Twenty-five percent had limb length inequality requiring shoe lifts but this combination did not impair functional capability. None owned wheelchairs. Seven had associated musculo-skeletal deformities which required treatment. We concluded that the hip dislocation in these patients was not significant. We evaluated a similar series of 11 patients who had open reduction of a dislocated hip an average of 18 months ago. Two patients were slightly improved and five patients were significantly worse after the open reductions. Serious complications related to the surgery ensued in half of the cases. The cost of the surgery and treatment of the complications in these 11 patients was $400,000. We concluded that surgical treatment of paralytic hip dislocations in ambulatory myelomeningocele patients offered no clear cut benefit.

PMID: 3433975

Treatment versus non-treatment of hip dislocations in ambulatory patients with myelomeningocele.

2009-06-08T16:42:00.001-05:00

Sherk HH, Uppal GS, Lane G, Melchionni J. Treatment versus non-treatment of hip dislocations in ambulatory patients with myelomeningocele. Developmental Medcine and Child Neurology. 1991 Jun;33(6):491-4.

Division of Orthopaedic Surgery, Medical College of Pennsylvania, Philadelphia 19129.

Thirty myelomeningocele patients with untreated hip dislocations who had functional quadriceps and good ambulatory capability were evaluated for hip pain, hip motion and sitting ability: they had no pain, good to excellent hip motion and no difficulty in sitting. Three were wheelchair-bound. Nine had a limb-length inequality requiring a shoe lift. They were compared with a similar series of 11 patients who underwent open reduction of a dislocated hip with a two-year follow-up. Two patients in this group had improved and three had worse sitting balance. Serious perioperative complications occurred in six patients. The authors conclude that surgical reduction of paralytic hip dislocations in ambulatory myelomeningocele patients is costly and offers little obvious benefit.

PMID: 1864475

Strategies of hip management in myelomeningocele: to do or not to do.

2009-06-08T16:41:00.001-05:00

Swaroop VT, Dias LS. Strategies of hip management in myelomeningocele: to do or not to do. Hip International. 2009 Jan-Mar;19 Suppl 6:S53-5.

Division of Pediatric Rehabilitation, Rehabilitation Institute of Chicago, Chicago, IL, USA. vswaroop@ric.org

Paralytic hip dislocation in myelomeningocele is common and can be a complicated problem. This review summarizes results of surgical techniques employed in this patient population in order to achieve and maintain reduction of paralytic hip dislocations. This review also examines the controversial question of whether or not hip surgery in patients with myelomeningocele provides improved functional results. Finally this paper suggest appropriate goals and recommendations for treatment of the paralytic hip dislocation in myelomeningocele.

PMID: 19306248

The prevalence and predictors of anencephaly and spina bifida in Texas.

2009-05-04T14:03:00.002-05:00

Canfield MA, Marengo L, Ramadhani TA, Suarez L, Brender JD, Scheuerle A. The prevalence and predictors of anencephaly and spina bifida in Texas. Paediatric and Perinatal Epidemiology. 2009 Jan;23(1):41-50.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX, USA.

Texas shares a 1255-mile border with Mexico and encompasses a variety of ecosystems, industries and other potential environmental exposures. The Texas Birth Defects Registry is an active surveillance system which covers all pregnancy outcomes (livebirths, fetal deaths and elective pregnancy terminations). This study describes the occurrence and the predictors of neural tube defects (anencephaly and spina bifida) in Texas between 1999 and 2003. Birth prevalence, crude and adjusted prevalence ratios and 95% confidence intervals were calculated using Poisson regression, for each defect, by fetal/infant sex, delivery year and maternal sociodemographic characteristics. Among approximately 1.8 million livebirths, a total of 1157 neural tube defects cases were ascertained by the Registry, resulting in an overall prevalence of 6.33 cases per 10 000 livebirths. The prevalences of anencephaly and spina bifida were 2.81 and 3.52 per 10 000 livebirths respectively. Prevalences of both defects were highest in Hispanics, among mothers living along the border with Mexico, among women of higher parity and among mothers who were 40+ years of age. In addition, the prevalence of each defect was higher among women with no record of prenatal care and among women with less than 7 years of education. Hispanic ethnicity was an important predictor for anencephaly, along with sex, maternal age, parity and border residence. However, only border residence and delivery year were significant predictors for spina bifida.

PMID: 19228313

Urban-rural residence and the occurrence of neural tube defects in Texas, 1999-2003.

2009-05-04T13:59:00.001-05:00

Luben TJ, Messer LC, Mendola P, Carozza SE, Horel SA, Langlois PH. Urban-rural residence and the occurrence of neural tube defects in Texas, 1999-2003. Health Place. 2009 Sep;15(3):848-54. Epub 2009 Feb 23.

US Environmental Protection Agency, 109 T.W. Alexander Drive, Mail Drop B-243-01, RTP, NC 27711, USA.

Neural tube birth defects (NTDs) affect more than 4000 pregnancies in the US annually. The etiology of NTDs is believed to be multifactorial, but much remains unknown. We examined the pattern and magnitude of urban-rural variation in anencephaly, spina bifida without anencephaly, and encephalocele in Texas in relation with urban-rural residence for the period 1999-2003. There was no evidence that urban-rural residence was associated with changes in the rate of anencephaly or spina bifida without anencephaly in unadjusted or adjusted analyses. In contrast, rates of encephalocele were statistically significantly higher in areas classified as suburban or more rural compared to urban areas using four different urban-rural residence indicators.

PMID: 19299192

Anencephaly and spina bifida among Hispanics: Maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study.

2009-05-04T13:57:00.001-05:00

Canfield MA, Ramadhani TA, Shaw GM, Carmichael SL, Waller DK, Mosley BS, Royle MH, Olney RS; The National Birth Defects Prevention Study. Anencephaly and spina bifida among Hispanics: Maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Research Part A; Clinical and Molecular Teratology. 2009 Mar 30.

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

BACKGROUND: We used data from the multisite National Birth Defects Prevention Study for expected delivery dates from October 1997 through 2003, to determine whether the increased risk in anencephaly and spina bifida (neural tube defects (NTDs)) in Hispanics was explained by selected sociodemographic, acculturation, and other maternal characteristics.

METHODS: For each type of defect, we examined the association with selected maternal characteristics stratified by race/ethnicity and the association with Hispanic parents' acculturation level, relative to non-Hispanic whites. We used logistic regression and calculated crude odds ratios (ORs) and their 95% confidence intervals (CIs).

RESULTS: Hispanic mothers who reported the highest level of income were 80% less likely to deliver babies with spina bifida. In addition, highly educated Hispanic and white mothers had 76 and 35% lower risk, respectively. Other factors showing differing effects for spina bifida in Hispanics included maternal age, parity, and gestational diabetes. For spina bifida there was no significant elevated risk for U.S.-born Hispanics, relative to whites, but for anencephaly, corresponding ORs ranged from 1.9 to 2.3. The highest risk for spina bifida was observed for recent Hispanic immigrant parents from Mexico or Central America residing in the United States <5 years (OR = 3.28, 95% CI = 1.46-7.37).

CONCLUSIONS: Less acculturated Hispanic parents seemed to be at highest risk of NTDs. For anencephaly, U.S.-born and English-speaking Hispanic parents were also at increased risk. Finally, from an etiologic standpoint, spina bifida and anencephaly appeared to be etiologically heterogeneous from these analyses. Birth Defects Research (Part A), 2009. (c) 2009 Wiley-Liss, Inc.

PMID: 19334286

Are birth defects among Hispanics related to maternal nativity or number of years lived in the United States?

2009-05-04T13:53:00.001-05:00

Ramadhani T, Short V, Canfield MA, Waller DK, Correa A, Royle M, Scheuerle A; National Birth Defects Prevention Study (NBDPS). Are birth defects among Hispanics related to maternal nativity or number of years lived in the United States? Birth Defects Research Part A; Clinical and Molecular Teratology. 2009 Apr 6. [Epub ahead of print]

Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas.

BACKGROUND: Literature on the risk of birth defects among foreign- versus U.S.-born Hispanics is limited or inconsistent. We examined the association between country of birth, immigration patterns, and birth defects among Hispanic mothers.

METHODS: We used data from the National Birth Defects Prevention Study and calculated odds ratios (ORs) and 95% confidence intervals and assessed the relationship between mothers' country of birth, years lived in the United States, and birth defects among 575 foreign-born compared to 539 U.S.-born Hispanic mothers.

RESULTS: Hispanic mothers born in Mexico/Central America were more likely to deliver babies with spina bifida (OR = 1.53) than their U.S.-born counterparts. Also, mothers born in Mexico/Central America or who were recent United States immigrants (5 years were more likely to deliver babies with all neural tube defects combined (OR = 1.42), spina bifida (OR = 1.89), and longitudinal limb defects (OR = 2.34). Foreign-born mothers, regardless of their number of years lived in the United States, were more likely to deliver babies with anotia or microtia.

CONCLUSIONS: Depending on the type of birth defect, foreign-born Hispanic mothers might be at higher or lower risk of delivering babies with the defects. The differences might reflect variations in predisposition, cultural norms, behavioral characteristics, and/or ascertainment of the birth defects. Birth Defects Research (Part A), 2009. (c) 2009 Wiley-Liss, Inc.

PMID: 19350653

Comparing Outcomes of Slings With Versus Without Enterocystoplasty for Neurogenic Urinary Incontinence.

2009-05-04T13:48:00.001-05:00

Snodgrass W, Keefover-Hicks A, Prieto J, Bush N, Adams R. Comparing Outcomes of Slings With Versus Without Enterocystoplasty for Neurogenic Urinary Incontinence.
Journal of Urology. 2009 Apr 16.

Pediatric Urology Section, University of Texas Southwestern Medical Center at Dallas and Children's Medical Center.

PURPOSE: We compared 2 cohorts of children with neurogenic urinary incontinence undergoing bladder neck sling with and without augmentation to determine relative continence outcomes, catheterization intervals, anticholinergic requirements and health related quality of life improvement as perceived by the patients and their parents.

MATERIALS AND METHODS: Consecutive patients followed through our spina bifida program underwent a structured postoperative interview by a research nurse to assess continence, interval between catheterizations and anticholinergic use. In addition, the child and parent together answered a health related quality of life satisfaction survey to determine the impact of surgery from their perspectives.

RESULTS: There were 18 patients undergoing sling with augmentation and 23 with sling alone. Overall improved continence rate was 83%, with no difference between outcomes in patients with vs without augmentation. However, the interval between catheterizations was longer and the use of anticholinergics was less following augmentation. Nevertheless, health related quality of life responses differed significantly in only 1 area, independent care, with both cohorts reporting similarly improved overall health, and increased ability to participate in social and leisure activities.

CONCLUSIONS: We directly compared results in patients undergoing slings with and without augmentation. Both procedures were similarly successful in achieving improved continence, with patients undergoing augmentation having a longer interval between catheterization and requiring fewer anticholinergics. However, health related quality of life responses revealed that both cohorts were similarly satisfied with the outcomes.

PMID: 19375730

From neuromuscular activation to end-point locomotion: An artificial neural network-based technique for neural prostheses.

2009-05-04T13:42:00.003-05:00

Chang CL, Jin Z, Chang HC, Cheng AC. From neuromuscular activation to end-point locomotion: An artificial neural network-based technique for neural prostheses. Journal of Biomechanics. 2009 Apr 21. [Epub ahead of print]

Department of Physical Medicine & Rehabilitation, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

Neuroprostheses, implantable or non-invasive ones, are promising techniques to enable paralyzed individuals with conditions, such as spinal cord injury or spina bifida (SB), to control their limbs voluntarily. Direct cortical control of invasive neuroprosthetic devices and robotic arms have recently become feasible for primates. However, little is known about designing non-invasive, closed-loop neuromuscular control strategies for neural prostheses. Our goal was to investigate if an artificial neural network-based (ANN-based) model for closed-loop-controlled neural prostheses could use neuromuscular activation recorded from individuals with impaired spinal cord to predict their end-point gait parameters (such as stride length and step width). We recruited 12 persons with SB (5 females and 7 males) and collected their neuromuscular activation and end-point gait parameters during overground walking. Our results show that the proposed ANN-based technique can achieve a highly accurate prediction (e.g., R-values of 0.92-0.97, ANN (tansig+tansig) for single composition of data sets) for altered end-point locomotion. Compared to traditional robust regression, this technique can provide up to 80% more accurate prediction. Our results suggest that more precise control of complex neural prostheses during locomotion can be achieved by engaging neuromuscular activity as intrinsic feedback to generate end-point leg movement. This ANN-based model allows a seamless incorporation of neuromuscular activity, detected from paralyzed individuals, to adaptively predict their altered gait patterns, which can be employed to provide closed-loop feedback information for neural prostheses.

PMID: 19389678

Why IQ is not a covariate in cognitive studies of neurodevelopmental disorders.

2009-05-04T13:39:00.002-05:00

Dennis M, Francis DJ, Cirino PT, Schachar R, Barnes MA, Fletcher JM. Why IQ is not a covariate in cognitive studies of neurodevelopmental disorders. Journal of the International Neuropsychological Society. 2009 May;15(3):331-43.

Department of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada. maureen.dennis@sickkids.ca

IQ scores are volatile indices of global functional outcome, the final common path of an individual's genes, biology, cognition, education, and experiences. In studying neurocognitive outcomes in children with neurodevelopmental disorders, it is commonly assumed that IQ can and should be partialed out of statistical relations or used as a covariate for specific measures of cognitive outcome. We propose that it is misguided and generally unjustified to attempt to control for IQ differences by matching procedures or, more commonly, by using IQ scores as covariates. We offer logical, statistical, and methodological arguments, with examples from three neurodevelopmental disorders (spina bifida meningomyelocele, learning disabilities, and attention deficit hyperactivity disorder) that: (1) a historical reification of general intelligence, g, as a causal construct that measures aptitude and potential rather than achievement and performance has fostered the idea that IQ has special status and that in studying neurocognitive function in neurodevelopmental disorders; (2) IQ does not meet the requirements for a covariate; and (3) using IQ as a matching variable or covariate has produced overcorrected, anomalous, and counterintuitive findings about neurocognitive function.

PMID: 19402919

Tethered cord release: a long-term study in 114 patients.

2009-04-23T10:20:00.002-05:00

Bowman RM, Mohan A, Ito J, Seibly JM, McLone DG. (2009) Tethered cord release: a long-term study in 114 patients. Journal of Neurosurgery Pediatrics. 2009 Mar;3(3):181-7.

Division of Pediatric Neurosurgery, Children's Memorial Hospital, Chicago, USA. rbowman@childrensmemorial.org

OBJECT: All children born with a myelomeningocele at the authors' institution undergo aggressive treatment to maintain or improve functional outcome. Consequently, when any neurological, orthopedic, and/or urological changes are noted, a search for the cause is initiated. The most common cause of decline in a child born with a myelomeningocele is shunt malfunction. The second most common cause is tethering of the distal spinal cord at the site of the original back closure. In this report, the authors review the indicators of symptomatic spinal cord tethering and discuss the surgical interventions and outcomes in the children with myelomeningocele who underwent treatment at Children's Memorial Hospital from 1975 to 2008.

METHODS: Among the 502 children who underwent original closure at Children's Memorial Hospital, a symptomatic tethered spinal cord developed in 114 (23%). Eighty-one patients (71%) have undergone 1 untethering procedure, and 33 patients (29%) have undergone multiple untetherings, for a total of 163 total surgeries. The indicators of symptomatic spinal cord tethering include scoliosis, decline in lower-extremity (LE) motor strength, LE contractures, LE spasticity, gait change, urinary changes, and pain.

RESULTS: Pain has shown the best response to surgical untethering, with 100% of children experiencing postoperative improvement. The results of long-term follow-up (average 12 years, range 1 month-23.3 years) in this cohort demonstrated scoliosis progression after surgical untethering in 52% of patients, with 28% requiring spinal fusion. On the 3-month postoperative manual muscle test, 70% of patients showed improved LE muscle strength compared to preoperatively. Gait was also similarly improved after untethering as evaluated by an orthopedic surgeon. Spasticity improved in two-thirds of the cohort, and as expected, LE contractures were stable (78%) postoperatively, as assessed by orthopedic and rehabilitation medicine specialists. Urologically, 64% of patients showed improvements on postoperative bladder evaluation.

CONCLUSIONS: Although this is a clinical outcome study with no control group, the authors' experience has been that tethered cord release is beneficial in maintaining neurological, urological, and orthopedic functioning in children born with a myelomeningocele.

PMID: 19338463

Motor profile and cognitive functioning in children with spina bifida.

2009-04-16T14:39:00.001-05:00

Vinck A, Nijhuis-van der Sanden MW, Roeleveld NJ, Mullaart RA, Rotteveel JJ, Maassen BA. Motor profile and cognitive functioning in children with spina bifida.
European Journal of Pediatric Neurology. 2009 Feb 21. [Epub ahead of print]

Department of Medical Psychology, Radboud University Nijmegen Medical Centre, The Netherlands; Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.

BACKGROUND: Spina bifida is a complex neuroembryological disorder resulting from incomplete closure of the posterior neural tube. Morbidity in the different fields of motor and cognitive neurodevelopment is variable in nature and severity, and often hard to predict.

AIMS: The current study investigates the relationship between cognitive functioning, fine motor performance and motor quality in children with spina bifida myelomeningocele (SBM) and SB-only, taking into consideration the cerebral malformations.

MATERIAL AND METHODS: Forty-one children were included (22 girls and 19 boys aged between 6 and 14 years, mean age 10;0 years) in the study. A comprehensive assessment was conducted of cognitive functioning and motor profile, including fine motor and visual-motor functioning, and motor quality. The performance outcomes were analyzed for the total group of children and separately for the nonretarded children (FSIQ>/=70, N=30) to eliminate the influence of global intellectual impairment.

RESULTS: Although the children with spina bifida showed increased incidence of cognitive and fine motor impairment, and impaired motor quality, after exclusion of the overall retarded children no associations were found between cognitive functioning and motor profile. In the comparison of SBM to SB-only specific differences were found for performance IQ, visual-motor functioning and motor quality, but not fine motor functioning.

CONCLUSION: Our findings underscore the role of cerebral malformation in spina bifida and its consequences for neuropsychological functioning. The complicated developmental interactions found strengthen the need for an individualized management of children with SB.

PMID: 19237302

Children with cerebral palsy, spina bifida and pragmatic language impairment: Differences and similarities in pragmatic ability.

2009-04-16T14:00:00.001-05:00

Holck P, Nettelbladt U, Sandberg AD. Children with cerebral palsy, spina bifida and pragmatic language impairment: Differences and similarities in pragmatic ability.
Research in Developmental Disabilities. 2009 Feb 25.

Pragmatically related abilities were studied in three clinical groups
of children from 5 to 11 years of age; children with cerebral palsy
(CP; n = 10), children with spina bifida and hydrocephalus (SBH;
n = 10) and children with pragmatic language impairment (PLI;
n = 10), in order to explore pragmatic abilities within each group. A
range of pragmatic, linguistic and cognitive assessments were
performed, and comparisons between the groups were made. In
addition, connections between variables were studied. The most
salient result was the many similarities and the lack of clear
boundaries between the groups. The only significant differences
found concerned short-term memory and inference ability, where
all three groups experienced problems but to varying extent.
Different patterns of variance were found in the groups, indicating
that different underlying abilities such as reception of grammar,
inferential comprehension and lexical comprehension seem to
affect pragmatic ability in somewhat different ways. The results
suggest that the children with CP and SBH in this study shared a
number of pragmatically related traits, being more similar than
would be expected according to earlier research. Finally, it is
suggested that pragmatic assessment is further subdivided into a
socially versus a linguistically related assessment.

PMID: 19249190

The scientific basis for eliminating folic acid-preventable spina bifida: a modern miracle from epidemiology.

2009-04-16T13:59:00.000-05:00

Oakley GP Jr. The scientific basis for eliminating folic acid-preventable spina bifida: a modern miracle from epidemiology. Annals of Epidemiology. 2009 Apr;19(4):226-30.

Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, GA, USA. gpoakley@mindspring.com

One of the most remarkable successes of epidemiology was the demonstration in the late twentieth century that spina bifida and anencephaly-two of the most common and severe birth defects-are caused primarily by folate deficiency. This article reviews the descriptive epidemiological studies that began when we did not have a clue about etiology. The paper tells the success story of the trials that proved that folic acid would prevent folic-acid-preventable spina bifida. Finally, it will tell how difficult it is to get prevention policy implemented, even when the scientific evidence is compelling. It concludes by noting that the inaction or inappropriate actions of food regulatory bodies in so many countries means that only 10% of folic-acid-preventable spina bifida is actually being prevented--a serious failure of public health policy.

PMID: 19344858

Curly tail: a 50-year history of the mouse spina bifida model.

2009-04-16T13:21:00.005-05:00

van Straaten HW, Copp AJ. Curly tail: a 50-year history of the mouse spina bifida model. Anatomy and Embryolgy. 2001 Apr;203(4):225-37. Review.

Department of Anatomy and Embryology, Maastricht University, The Netherlands. h.vanstraaten@ae.unimaas.nl

This paper reviews 50 years of progress towards understanding the aetiology and pathogenesis of neural tube defects (NTD) in the curly tail (ct) mutant mouse. More than 45 papers have been published on various aspects of curly tail with the result that it is now the best understood mouse model of NTD pathogenesis. The failure of closure of the spinal neural tube, which leads to spina bifida in this mouse, has been traced back to a tissue-specific defect of cell proliferation in the tail bud of the E9.5 embryo. This cell proliferation defect results in a growth imbalance in the caudal region that generates ventral curvature of the body axis. Neurulation movements are opposed, leading to delayed neuropore closure and spina bifida, or tail defects. It is interesting to reflect that these advances have been achieved in the absence of information on the nature of the ct gene product, which remains unidentified. In addition to the principal ct gene, which maps to distal Chromosome 4, the curly tail phenotype is influenced by several modifier genes and by environmental factors. NTD in curly tail are resistant to folic acid, as is thought to be the case in 30% of human NTD, whereas they can be prevented by myo-inositol. These and other features of NTD in this system bear striking similarities to the situation in humans, making curly tail a model for understanding a sub-type folic acid-resistant human NTD.

PMID: 11396850

Mouse models for neural tube closure defects.

2009-04-16T13:21:00.004-05:00

Juriloff DM, Harris MJ. Mouse models for neural tube closure defects. Human Molecular Genetics. 2000 Apr 12;9(6):993-1000. Review.

Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada. juriloff@interchange.ubc.ca

Neural tube closure defects (NTDs), in particular anencephaly and spina bifida, are common human birth defects (1 in 1000), their genetics is complex and their risk is reduced by periconceptional maternal folic acid supplementation. There are > 60 mouse mutants and strains with NTDs, many reported within the past 2 years. Not only are NTD mutations at loci widely heterogeneous in function, but also most of the mutants demonstrate variable low penetrance and some show complex inheritance patterns (e.g. SELH/Bc, Abl / Arg, Mena / Profilin1 ). In most of these mouse models, the NTDs are exencephaly (equivalent to anencephaly) or spina bifida or both, reflecting failure of neural fold elevation in well defined, mechanistically distinct elevation zones. NTD risk is reduced in various models by different maternal nutrient supplements, including folic acid ( Pax3, Cart1, Cd mutants), inositol ( ct ) and methionine ( Axd ). Lack of de novo methylation in embryos ( Dnmt3b -null) leads to NTD risk, and we suggest a potential link between methylation and the observed female excess among cranial NTDs in several models. Some surprising NTD mutants ( Gadd45a, Terc, Trp53 ) suggest that genes with a basic mitotic function also have a function specific to neural fold elevation. The genes mutated in several mouse NTD models involve actin regulation ( Abl/Arg, Macs, Mena/Profilin1, Mlp, Shrm, Vcl ), support the postulated key role of actin in neural fold elevation, and may be a good candidate pathway to search for human NTD genes.

PMID: 10767323

Investigations into the etiology of neural tube defects.

2009-04-16T13:20:00.002-05:00

Cabrera RM, Hill DS, Etheredge AJ, Finnell RH. Investigations into the etiology of neural tube defects. Birth Defects Research. Part C, Embryo Today 2004 Dec;72(4):330-44. Review.

Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.

Neural tube defects (NTDs) are serious malformations affecting approximately 1 per 1000 births, yet the mechanisms by which they arise are unknown. There have been consistent efforts in many fields of research to elucidate the etiology of this multifactorial condition. While no single gene has been identified as a major independent risk factor for NTDs, candidate genes have been proposed that may modify the effects of maternal and/or embryonic exposures. Folate supplementation effectively reduces the occurrence of NTDs and, consequently, has focused much research on metabolism of folate-related pathways during pregnancy and development. Further understanding of normal development and how teratogens can perturb these orchestrated processes also remains at the fore of modern scientific endeavors. The composite of these factors remains fragmented; the aim of this review is to provide the reader with a summary of sentinel and current works in the body of literature addressing NTD disease etiology. 2005 Wiley-Liss, Inc.

PMID: 15662706

Pathobiology and genetics of neural tube defects.

2009-04-16T13:18:00.002-05:00

Finnell RH, Gould A, Spiegelstein O. Pathobiology and genetics of neural tube defects. Epilepsia. 2003;44 Suppl 3:14-23. Review.

Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston 77030-3303, USA. rfinnell@ibt.tamu.edu

PURPOSE: Neural tube defects (NTDs), including spina bifida and anencephaly, are common congenital malformations that occur when the neural tube fails to achieve proper closure during early embryogenesis. Based on epidemiological and clinical data obtained over the last few decades, it is apparent that these multifactorial defects have a significant genetic component to their etiology that interacts with specific environmental risk factors. The purpose of this review article is to synthesize the existing literature on the genetic factors contributing to NTD risk.

RESULTS: To date, there is evidence that closure of the mammalian neural tube initiates and fuses intermittently at four discrete locations. Disruption of this process at any of these four sites may lead to an NTD, possibly arising through closure site-specific genetic mechanisms. Candidate genes involved in neural tube closure include genes of the folate metabolic pathway, as well as those involved in folate transport.

CONCLUSIONS: Although extensive efforts have focused on elucidating the genetic risk factors contributing to the etiology of NTDs, the population burden for these malformations remains unknown. One group at high risk for having children with NTDs is epileptic women receiving antiepileptic medications during pregnancy. Efforts to better understand the genetic factors that may contribute to their heightened risk, as well as the pathogenesis of neural tube closure defects, are reviewed herein.

PMID: 12790882

Mouse models of neural tube defects: investigating preventive mechanisms.

2009-04-16T13:17:00.002-05:00

Greene ND, Copp AJ. Mouse models of neural tube defects: investigating preventive mechanisms. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2005 May 15;135C(1):31-41. Review.

Neural Development Unit, Institute of Child Health, University College London, UK. n.greene@ich.ucl.ac.uk

Neural tube defects (NTD), including anencephaly and spina bifida, are a group of severe congenital abnormalities in which the future brain and/or spinal cord fail to close. In mice, NTD may result from genetic mutations or knockouts, or from exposure to teratogenic agents, several of which are known risk factors in humans. Among the many mouse NTD models that have been identified to date, a number have been tested for possible primary prevention of NTD by exogenous agents, such as folic acid. In genetic NTD models such as Cart1, splotch, Cited2, and crooked tail, and NTD induced by teratogens including valproic acid and fumonisins, the incidence of defects is reduced by maternal folic acid supplementation. These folate-responsive models provide an opportunity to investigate the possible mechanisms underlying prevention of NTD by folic acid in humans. In another group of mouse models, that includes curly tail, axial defects, and the Ephrin-A5 knockout, NTD are not preventable by folic acid, reflecting the situation in humans in which a subset of NTD appear resistant to folic acid therapy. In this group of mutants alternative preventive agents, including inositol and methionine, have been shown to be effective. Overall, the data from mouse models suggests that a broad-based in utero therapy may offer scope for prevention of a greater proportion of NTD than is currently possible. Copyright 2005 Wiley-Liss, Inc

PMID: 15800852

Pathophysiology, prevention, and potential treatment of neural tube defects

2009-04-16T13:16:00.001-05:00

Manning SM, Jennings R, Madsen JR. Pathophysiology, prevention, and potential treatment of neural tube defects. Mental Retardation and Developmental Disabilities Research Reviews. 2000;6(1):6-14. Review.

Division of Newborn Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. manning_s@a1.tch.harvard.edu

Neural tube defects (NTD) remain a major cause of morbidity in spite of the reduction in liveborn incidence with periconceptional folic acid. However, the etiology remains unknown. This article reviews studies that address causation and potential treatment of NTD in humans and in animal models that resemble aspects of the common human NTD. Studies of nutritional markers of vitamin B12 and folic acid support a defect in homocysteine metabolism; a thermolabile variant of methylene tetrahydrofolate reductase, an enzyme that remethylates homocysteine to methionine, correlates with a risk of NTD in some human populations. Numerous mouse mutant models of NTD exist, attesting to the ease of disruption of neurulation, and a genetic basis for this malformation. Of these models, the curly tail mouse mutant most closely resembles the common human NTD. Folic acid does not prevent NTD in this model; however inositol supplementation does result in a significant reduction in incidence. Recent advances in fetal surgery, and evidence from mechanically created myelomeningocele in large animals amenable to surgical intervention suggest that the handicaps associated with myelomeningocele and associated Chiari Type II malformation may be prevented by in utero NTD closure. Success will depend on preservation of neurological tissue until such intervention is possible. Further research in animal models at the genetic and cellular levels, together with technological surgical advances, provide hope that prevention of more NTD and the associated handicaps may be possible. MRDD Research Reviews 6:6-14, 2000. Copyright 2000 Wiley-Liss, Inc.

PMID: 10899792

Epidemiology of neural tube defects.

2009-04-16T13:14:00.001-05:00

Frey L, Hauser WA. Epidemiology of neural tube defects. Epilepsia. 2003;44 Suppl 3:4-13. Review.

Department of Neurology, G. H. Sergievsky Center, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA.

Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly understood etiology in which both genetic and environmental factors appear to be involved. A number of specific chromosomal or single-gene disorders, presumably not affected by environmental influences, are associated with the development of NTDs, but such syndromal cases account for a small proportion of NTDs in live-born infants. Analysis of recurrence patterns within families and of twin-concordance data provides evidence of a genetic influence in nonsyndromal cases, but factors such as socioeconomic status and geographic area (independent of race or ethnicity) are also associated with variations in the incidence of NTDs. The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected pregnancies has undermined the reliability of birth prevalence rate as an estimate of incidence. Some occupational and other exposures, including maternal use of antiepileptic drugs (AEDs), are associated with increased risk for NTDs. Among women who have had an NTD-affected pregnancy, recurrence risk is markedly higher than the risk for a first NTD-affected pregnancy in the general population. There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.

PMID: 12790881

Spina bifida and other neural tube defects

2009-04-16T13:09:00.002-05:00

Northrup H, Volcik KA. Spina bifida and other neural tube defects. Current Problems in Pediatrics. 2000 Nov-Dec;30(10):313-32. Review.

Department of Pediatrics, Division of Medical Genetics, University of Texas Medical School, Houston, Texas, USA.

NTDs, resulting from failure of the neural tube to close during the fourth week of embryogenesis, are the most common severely disabling birth defects in the United States, with a frequency of approximately 1 of every 2000 births. Neural tube malformations involving the spinal cord and vertebral arches are referred to as spina bifida, with severe types of spina bifida involving protrusion of the spinal cord and/or meninges through a defect in the vertebral arch. Depending on the level of the lesion, interruption of the spinal cord at the site of the spina bifida defect causes paralysis of the legs, incontinence of urine and feces, anesthesia of the skin, and abnormalities of the hips, knees, and feet. Two additional abnormalities often seen in children with spina bifida include hydrocephalus and the Arnold-Chiari type II malformation. Despite the physical and particular learning disabilities children with spina bifida must cope with, participation in individualized educational programs can allow these children to develop skills necessary for autonomy in adulthood. Advances in research to uncover the molecular basis of NTDs is enhanced by knowledge of the link between both the environmental and genetic factors involved in the etiology of NTDs. The most recent development in NTD research for disease-causing genes is the discovery of a genetic link to the most well-known environmental cause of neural tube malformation, folate deficiency in pregnant women. Nearly a decade ago, periconceptional folic acid supplementation was proven to decrease both the recurrence and occurrence of NTDs. The study of folate and its association with NTDs is an ongoing endeavor that has led to numerous studies of different genes involved in the folate metabolism pathway, including the most commonly studied thermolabile mutation (C677T) in the MTHFR gene. An additional focus for NTD research involves mouse models that exhibit both naturally occurring NTDs, as well as those created by experimental design. We hope the search for genes involved in the risk and/or development of NTDs will lead to the development of strategies for prevention and treatment. The most recent achievement in treatment of NTDs involves the repair of meningomyelocele through advancements in fetal surgery. Convincing experimental evidence exists that in utero repair preserves neurologic function, as well as resolving the hydrocephalus and Arnold-Chiari malformation that often accompany meningomyelocele defects. However, follow-up is needed to completely evaluate long-term neurologic function and overall improved quality of life. And in the words of Olutoye and Adzick, "until the benefits of fetal [meningomyelocele] repair are carefully elucidated, weighed against maternal and fetal risks, and compared to conventional postnatal therapy, this procedure should be restricted to a few centers that are committed (clinically and experimentally) to investigating these issues."

PMID: 11147289