Yalcin S, Kocaoglu B, Berker N, Erol B. Conservative treatment of Charcot artroparthy in a series of spina bifida patients: the experience of one center and review of the literature. Journal of Pediatric Orthopedic B. 2007 Sep;16(5):373-9.
The present study was performed to evaluate the use of patellar tendon-bearing ankle foot orthesis for the treatment of Charcot arthropathy in a series of patients with spina bifida. A cohort of 350 spina bifida patients, ages ranging between 12 months and 22 years were evaluated in our clinic between June 1993 and March 2004. Charcot arthropathy was seen in five of these children. Treatment was initiated with nonsteroidal anti-inflammatory drugs, oral bisphosphonates and immobilization. No change was observed in the patients' symptoms after a month of treatment. At this time, a patellar tendon-bearing ankle foot orthesis was prescribed and used for a period of 6 to 24 months. All patients improved within 2 months. At the end of 2 years of follow-up, three patients are still using the brace without any complaints. One patient still has symptoms, although she is wearing her brace, but she has had significant improvement compared with the initiation of therapy. Non-weight-bearing, immobilization and surgery are the known treatment choices in Charcot arthropathy. Little experience exists about this entity and its treatment. Our experience reveals that the patellar tendon-bearing ankle foot orthesis leads to significant improvement in children with Charcot arthropathy without surgery and immobilization.
PMID: 17762679
Monday, October 1, 2007
Charcot arthropathy in spina bifida.
Nagarkatti DG, Banta JV, Thomson JD. Charcot arthropathy in spina bifida. Journal of Pediatric Orthopedics. 2000 Jan-Feb;20(1):82-7.
This multicenter study was undertaken to identify the prevalence of Charcot arthropathy in the spina bifida population; to evaluate the relationship of neurosegmental level, ambulatory level, and distribution of joint involvement; and to assess treatment results and make treatment recommendations. Sixteen patients were identified with Charcot arthropathy based on clinical and radiographic criteria ranging in age from 9 to 42 years. There were 15 ankles, seven knees, and four hips identified with Charcot arthropathy. Six patients underwent surgery and modification of orthoses, eight had a modification of orthoses only, one had no modification, and one was lost to follow-up. Mean follow-up was 4 years and 9 months (with four good, 17 fair, and five poor results). The best results were seen in 13 compliant patients with a brace modification, whereas poor results were seen in three patients with poor brace compliance. Based on our study, we have noted the prevalence of Charcot arthropathy in spina bifida to be one in 100 cases.
PMID: 10641695
This multicenter study was undertaken to identify the prevalence of Charcot arthropathy in the spina bifida population; to evaluate the relationship of neurosegmental level, ambulatory level, and distribution of joint involvement; and to assess treatment results and make treatment recommendations. Sixteen patients were identified with Charcot arthropathy based on clinical and radiographic criteria ranging in age from 9 to 42 years. There were 15 ankles, seven knees, and four hips identified with Charcot arthropathy. Six patients underwent surgery and modification of orthoses, eight had a modification of orthoses only, one had no modification, and one was lost to follow-up. Mean follow-up was 4 years and 9 months (with four good, 17 fair, and five poor results). The best results were seen in 13 compliant patients with a brace modification, whereas poor results were seen in three patients with poor brace compliance. Based on our study, we have noted the prevalence of Charcot arthropathy in spina bifida to be one in 100 cases.
PMID: 10641695
Factors affecting renal scar development in children with spina bifida
Ozel SK, Dokumcu Z, Akyildiz C, Avanoglu A, Ulman I. Factors affecting renal scar development in children with spina bifida. Urologia Internationalis. 2007;79(2):133-6.
BACKGROUND/AIMS: Prevention of renal scarring is the main therapeutic goal in children with spina bifida. We aimed to determine factors affecting renal scar development in these patients.
MATERIALS AND METHODS: Records of 312 children admitted between 1994 and 2005 with spina bifida were reviewed. Age on admission, gender, presence of previous febrile urinary tract infections (UTIs), vesicoureteral reflux (VUR), and initial urodynamic findings were noted. Patients were grouped regarding presence/absence of renal scars on DMSA scans. Chi2 and Student's t tests were used for statistical evaluation.
RESULTS: Seventy-two patients had renal scars on admission. Mean age was 4.62 +/- 4.59 years for patients without renal scars and 6.35 +/- 4.9 years for patients with scars. Male/female ratio was 1:1 in the scarless group and 1:2 in the group with scars. Previous febrile UTI was present in 11 of 240 scarless patients in contrast to 7 out of 72 patients in the scar group (p > 0.05). VUR was present in only 16.3% of cases without scars, whereas 36.1% of patients in the scar group had VUR. Detrusor overactivity and detrusor sphincter dyssynergia were observed in 67.1% of scarred patients, whereas this figure was 42.4% in the scarless group. The comparison of age on admission, gender, detrusor overactivity, and detrusor sphincter dyssynergia revealed significant differences between patients with and without renal scars.
CONCLUSIONS: Late referral, female gender, overactive detrusor, and detrusor sphincter dyssynergia have detrimental effects on renal parenchymal function in spina bifida patients. Patient selection for aggressive treatment using these features may prevent renal parenchymal deterioration. 2007 S. Karger AG, Basel
PMID: 17851282
BACKGROUND/AIMS: Prevention of renal scarring is the main therapeutic goal in children with spina bifida. We aimed to determine factors affecting renal scar development in these patients.
MATERIALS AND METHODS: Records of 312 children admitted between 1994 and 2005 with spina bifida were reviewed. Age on admission, gender, presence of previous febrile urinary tract infections (UTIs), vesicoureteral reflux (VUR), and initial urodynamic findings were noted. Patients were grouped regarding presence/absence of renal scars on DMSA scans. Chi2 and Student's t tests were used for statistical evaluation.
RESULTS: Seventy-two patients had renal scars on admission. Mean age was 4.62 +/- 4.59 years for patients without renal scars and 6.35 +/- 4.9 years for patients with scars. Male/female ratio was 1:1 in the scarless group and 1:2 in the group with scars. Previous febrile UTI was present in 11 of 240 scarless patients in contrast to 7 out of 72 patients in the scar group (p > 0.05). VUR was present in only 16.3% of cases without scars, whereas 36.1% of patients in the scar group had VUR. Detrusor overactivity and detrusor sphincter dyssynergia were observed in 67.1% of scarred patients, whereas this figure was 42.4% in the scarless group. The comparison of age on admission, gender, detrusor overactivity, and detrusor sphincter dyssynergia revealed significant differences between patients with and without renal scars.
CONCLUSIONS: Late referral, female gender, overactive detrusor, and detrusor sphincter dyssynergia have detrimental effects on renal parenchymal function in spina bifida patients. Patient selection for aggressive treatment using these features may prevent renal parenchymal deterioration. 2007 S. Karger AG, Basel
PMID: 17851282
Age-related Differences in Executive Function Among Children with Spina Bifida/Hydrocephalus Based on Parent Behavior Ratings
Tarazi RA, Zabel TA, Mahone EM. Age-related Differences in Executive Function Among Children with Spina Bifida/Hydrocephalus Based on Parent Behavior Ratings.
Clinical Neuropsychology. 2007 Aug 18;:1-18
Previous research has suggested that adolescents with myelomeningocele and shunted hydrocephalus (MMH) have difficulties with aspects of executive functioning and, in turn, with functional independence. There is little research, however, examining patterns of executive functioning across adolescence in this population. The goal of this cross-sectional study was to examine parent ratings of executive function in children with MMH and in typically developing peers across late childhood and adolescence. Parents of 36 individuals with MMH and 35 typically developing peers, ages 10 to 18 years, completed the Behavior Rating Inventory of Executive Function (BRIEF). The BRIEF is organized into eight scales and two primary indices - Metacognition (MCI) and Behavioral Regulation (BRI). As a whole, the children with MMH had significantly higher BRIEF T-scores, as well as a higher prevalence of clinically significant T-scores across subscales, particularly those representing cognitive control. Effects of group, age, and age-by-group interactions on the mean raw scores of the MCI and BRI were examined using regression analyses. There were significant group effects (p < .05) for both the BRI and MCI, with the controls having significantly lower mean ratings than the MMH group. There was also a significant contribution of age-by-group interaction on the BRI (p < .05). Although mean raw scores on the BRI for the MMH group remained stable across ages, mean raw scores in the control group decreased as age increased. Thus, healthy children have age-related improvements in executive control behaviors across adolescence, particularly behavioral control, while children with MMH demonstrate no age-related improvements in parent reported executive behaviors across adolescence. Therefore, children with MMH may continue to require targeted interventions and modifications to address executive dysfunction into young adulthood in order to promote functional independence.
PMID: 17853154
Clinical Neuropsychology. 2007 Aug 18;:1-18
Previous research has suggested that adolescents with myelomeningocele and shunted hydrocephalus (MMH) have difficulties with aspects of executive functioning and, in turn, with functional independence. There is little research, however, examining patterns of executive functioning across adolescence in this population. The goal of this cross-sectional study was to examine parent ratings of executive function in children with MMH and in typically developing peers across late childhood and adolescence. Parents of 36 individuals with MMH and 35 typically developing peers, ages 10 to 18 years, completed the Behavior Rating Inventory of Executive Function (BRIEF). The BRIEF is organized into eight scales and two primary indices - Metacognition (MCI) and Behavioral Regulation (BRI). As a whole, the children with MMH had significantly higher BRIEF T-scores, as well as a higher prevalence of clinically significant T-scores across subscales, particularly those representing cognitive control. Effects of group, age, and age-by-group interactions on the mean raw scores of the MCI and BRI were examined using regression analyses. There were significant group effects (p < .05) for both the BRI and MCI, with the controls having significantly lower mean ratings than the MMH group. There was also a significant contribution of age-by-group interaction on the BRI (p < .05). Although mean raw scores on the BRI for the MMH group remained stable across ages, mean raw scores in the control group decreased as age increased. Thus, healthy children have age-related improvements in executive control behaviors across adolescence, particularly behavioral control, while children with MMH demonstrate no age-related improvements in parent reported executive behaviors across adolescence. Therefore, children with MMH may continue to require targeted interventions and modifications to address executive dysfunction into young adulthood in order to promote functional independence.
PMID: 17853154
Identification of minimal enhancer elements sufficient for Pax3 expression in neural crest and implication of Tead2 as a regulator of Pax3
Milewski RC, Chi NC, Li J, Brown C, Lu MM, Epstein JA. Identification of minimal enhancer elements sufficient for Pax3 expression in neural crest and implication of Tead2 as a regulator of Pax3. Development. 2004 Feb;131(4):829-37. Epub 2004 Jan 21.
Pax3 is a transcription factor that is required by pre-migratory neural crest cells, which give rise to the peripheral nervous system, melanocytes, some vascular smooth muscle, and numerous other derivatives [corrected]. Both mice and humans with Pax3 deficiency exhibit neural crest-related developmental defects [corrected]. Pax3 is also expressed in the dorsal neural tube, and by myogenic progenitors in the presomitic mesoderm and the hypaxial somites. Molecular pathways that regulate Pax3 expression in the roof plate probably represent early upstream signals in neural crest induction. We have identified an enhancer region in the Pax3 genomic locus that is sufficient to recapitulate expression in neural crest precursors in transgenic mice. We show that Tead2, a member of the Tead box family of transcription factors, binds to a neural crest enhancer and activates Pax3 expression. Tead2, and its co-activator YAP65, are co-expressed with Pax3 in the dorsal neural tube, and mutation of the Tead2 binding site in the context of Pax3 transgenic constructs abolishes neural expression. In addition, a Tead2-Engrailed fusion protein is able to repress retinoic acid-induced Pax3 expression in P19 cells and in vivo. These results suggest that Tead2 is an endogenous activator of Pax3 in neural crest.
PMID: 14736747
Pax3 is a transcription factor that is required by pre-migratory neural crest cells, which give rise to the peripheral nervous system, melanocytes, some vascular smooth muscle, and numerous other derivatives [corrected]. Both mice and humans with Pax3 deficiency exhibit neural crest-related developmental defects [corrected]. Pax3 is also expressed in the dorsal neural tube, and by myogenic progenitors in the presomitic mesoderm and the hypaxial somites. Molecular pathways that regulate Pax3 expression in the roof plate probably represent early upstream signals in neural crest induction. We have identified an enhancer region in the Pax3 genomic locus that is sufficient to recapitulate expression in neural crest precursors in transgenic mice. We show that Tead2, a member of the Tead box family of transcription factors, binds to a neural crest enhancer and activates Pax3 expression. Tead2, and its co-activator YAP65, are co-expressed with Pax3 in the dorsal neural tube, and mutation of the Tead2 binding site in the context of Pax3 transgenic constructs abolishes neural expression. In addition, a Tead2-Engrailed fusion protein is able to repress retinoic acid-induced Pax3 expression in P19 cells and in vivo. These results suggest that Tead2 is an endogenous activator of Pax3 in neural crest.
PMID: 14736747
Transcription factor TEAD2 is involved in neural tube closure.
Kaneko KJ, Kohn MJ, Liu C, Depamphilis ML. Transcription factor TEAD2 is involved in neural tube closure. Genesis. 2007 Sep;45(9):577-87.
TEAD2, one of the first transcription factors expressed at the beginning of mammalian development, appears to be required during neural development. For example, Tead2 expression is greatest in the dorsal neural crest where it appears to regulate expression of Pax3, a gene essential for brain development. Consistent with this hypothesis, we found that inactivation of the Tead2 gene in mice significantly increased the risk of exencephaly (a defect in neural tube closure). However, none of the embryos exhibited spina bifida, the major phenotype of Pax3 nullizygous embryos, and expression of Pax3 in E11.5 Tead2 nullizygous embryos was normal. Thus, Tead2 plays a role in neural tube closure that is independent of its putative role in Pax3 regulation. In addition, the risk of exencephaly was greatest with Tead2 nullizygous females, and could be suppressed either by folic acid or pifithrin-alpha. These results reveal a maternal genetic contribution to neural tube closure, and suggest that Tead2-deficient mice provide a model for anencephaly, a common human birth defect that can be prevented by folic acid. genesis 45:577-587, 2007. Published 2007 Wiley-Liss, Inc.
PMID: 17868131
TEAD2, one of the first transcription factors expressed at the beginning of mammalian development, appears to be required during neural development. For example, Tead2 expression is greatest in the dorsal neural crest where it appears to regulate expression of Pax3, a gene essential for brain development. Consistent with this hypothesis, we found that inactivation of the Tead2 gene in mice significantly increased the risk of exencephaly (a defect in neural tube closure). However, none of the embryos exhibited spina bifida, the major phenotype of Pax3 nullizygous embryos, and expression of Pax3 in E11.5 Tead2 nullizygous embryos was normal. Thus, Tead2 plays a role in neural tube closure that is independent of its putative role in Pax3 regulation. In addition, the risk of exencephaly was greatest with Tead2 nullizygous females, and could be suppressed either by folic acid or pifithrin-alpha. These results reveal a maternal genetic contribution to neural tube closure, and suggest that Tead2-deficient mice provide a model for anencephaly, a common human birth defect that can be prevented by folic acid. genesis 45:577-587, 2007. Published 2007 Wiley-Liss, Inc.
PMID: 17868131
Incidence, prevalence, and characteristics of fractures in children, adolescents, and adults with spina bifida
Dosa NP, Eckrich M, Katz DA, Turk M, Liptak GS. Incidence, prevalence, and characteristics of fractures in children, adolescents, and adults with spina bifida. Journal of Spinal Cord Medicine. 2007;30 Suppl 1:S5-9.
OBJECTIVE: To determine the age-specific incidence, prevalence, and characteristics of fractures in persons with spina bifida. DESIGN: Year-long historical cross-sectional study.
SUBJECTS: Two hundred twenty-one consecutive patients aged 2-58 years evaluated in 2003 at a regional referral center. Twenty percent (n=44) were children age 2-10 years; 30% (n=68) were adolescents age 11-18 years; and 50% (n=109) were adults age 19-58 years. Fifty-five percent (n=121) were female; 64% (n=141) had shunted hydrocephalus. Fifty-eight percent (n=129) were community ambulators. Defect levels included 14% (n=31) thoracic; 37% (n=81) mid-lumbar; 35% (n=79) low-lumbar; and 14% (n = 30) sacral.
METHODS: Chart review of 221 consecutive children, adolescents, and adults enrolled in a spina bifida program in Syracuse, New York, was used to determine incidence and prevalence rates. Chi-square was used for subgroup analyses, and linear regression was used to examine independent association of motor level, functional independence (Functional Independence Measures score), body mass index (BMI), shunted hydrocephalus, epilepsy, and/or other congenital anomalies with fractures, controlling for insurance status, race/ethnicity, age, and sex.
RESULTS: Annual incidence of fractures among children, adolescents, and adults was 23/1000; 29/1000; and 18/1000, respectively. Overall prevalence was 200/1000. One in 4 patients with fractures reported multiple fractures. Median age at first fracture was 11 years. Most fractures involved the femur or tibia. Comparisons between adult- and childhood-onset fractures were not significant for difference in sex, BMI, defect level, functional independence, shunted hydrocephalus, epilepsy, or other congenital anomalies. In regression models only defect level RR = 1.646 (P = 0.019; 95% CI 1.085-2.498) and age RR = 1.033 (P= 0.036; 95% CI 1.002-1.065) were independently associated with fractures.
CONCLUSIONS: Fractures in persons with spina bifida are most common during early adolescence. Environmental modifications may be more effective than pharmacological treatment in reducing the prevalence of fractures in this population.
PMID: 17874679
OBJECTIVE: To determine the age-specific incidence, prevalence, and characteristics of fractures in persons with spina bifida. DESIGN: Year-long historical cross-sectional study.
SUBJECTS: Two hundred twenty-one consecutive patients aged 2-58 years evaluated in 2003 at a regional referral center. Twenty percent (n=44) were children age 2-10 years; 30% (n=68) were adolescents age 11-18 years; and 50% (n=109) were adults age 19-58 years. Fifty-five percent (n=121) were female; 64% (n=141) had shunted hydrocephalus. Fifty-eight percent (n=129) were community ambulators. Defect levels included 14% (n=31) thoracic; 37% (n=81) mid-lumbar; 35% (n=79) low-lumbar; and 14% (n = 30) sacral.
METHODS: Chart review of 221 consecutive children, adolescents, and adults enrolled in a spina bifida program in Syracuse, New York, was used to determine incidence and prevalence rates. Chi-square was used for subgroup analyses, and linear regression was used to examine independent association of motor level, functional independence (Functional Independence Measures score), body mass index (BMI), shunted hydrocephalus, epilepsy, and/or other congenital anomalies with fractures, controlling for insurance status, race/ethnicity, age, and sex.
RESULTS: Annual incidence of fractures among children, adolescents, and adults was 23/1000; 29/1000; and 18/1000, respectively. Overall prevalence was 200/1000. One in 4 patients with fractures reported multiple fractures. Median age at first fracture was 11 years. Most fractures involved the femur or tibia. Comparisons between adult- and childhood-onset fractures were not significant for difference in sex, BMI, defect level, functional independence, shunted hydrocephalus, epilepsy, or other congenital anomalies. In regression models only defect level RR = 1.646 (P = 0.019; 95% CI 1.085-2.498) and age RR = 1.033 (P= 0.036; 95% CI 1.002-1.065) were independently associated with fractures.
CONCLUSIONS: Fractures in persons with spina bifida are most common during early adolescence. Environmental modifications may be more effective than pharmacological treatment in reducing the prevalence of fractures in this population.
PMID: 17874679
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