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
Monday, June 29, 2009
Vitamin B12 insufficiency and the risk of fetal neural tube defects.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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
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
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.
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
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.
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
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.
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
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.
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
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.
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
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
Friday, June 19, 2009
After the honeymoon comes divorce: long-term use of the antegrade continence enema procedure.
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
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.
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
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
Monday, June 8, 2009
Long-term follow-up of Chiari pelvic osteotomy in myelomeningocele.
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
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.
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
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.
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
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.
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
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.
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
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.
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
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
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