The etiology of spina bifida, a neural tube birth defect, is largely unknown, but a majority of cases are thought to be genetic in origin. Although maternal blood type was found not to be associated with the occurrence of spina bifida, the analysis was never extended to other aspects of the disorder. The purpose of this descriptive study was to determine if maternal blood type was related to characteristics of children with spina bifida. The blood type of 221 mothers of children with spina bifida enrolled on the Arkansas Spinal Cord Disability Registry from 1995 to 2008 was obtained by mailed questionnaire. All children were community-dwelling and from singleton pregnancies. As expected, analysis of mother-child data showed that the distribution of mothers\' blood type was not statistically different from the general population (chi-squared, P = 0.9203). However, the blood type of these mothers was associated with their child\'s lesion level (chi-squared, P = 0.011). Mothers with blood type A more frequently had children with thoracic lesions; mothers with non-A blood types more frequently had children with lumbar and sacral lesions. In addition, mean birthweight differed by mothers\' blood type (analysis of variance, P = 0.025). Children of mothers with blood type A had the highest mean birthweight, while those of mothers with blood type AB had the lowest. Also, hydrocephalus was present more frequently in children with thoracic lesions compared to those with lumbar and sacral lesions (chi-squared, P = 0.001). Interestingly, these results were significant for female children but not for male children. In conclusion, maternal blood type was associated with lesion level and birthweight of children with spina bifida.

BACKGROUND: Obesity prevalence in youth with spina bifida is higher than in their typically developing peers. Obesity is associated with lifelong medical, psychological, and economic burdens. Successful prevention or treatment of obesity in individuals with spina bifida is compromised by (1) the lack of valid and reliable methods to identify body fat in a clinical setting and (2) limited data on energy expenditure that are necessary to provide daily caloric recommendations.
OBJECTIVE: The objectives of this study will be to develop 2 algorithms for use in youth with spina bifida in a clinical setting, one to model body fat and one to predict total daily energy expenditure. In addition, physical activity and dietary intake will be described for the sample.
METHODS: This multisite, prospective, national clinical study will enroll 232 youth with myelomeningocele aged 5 to 18 years (stratified by age and mobility). Participants will be enrolled for 1 week. Data obtained include 4 measures of body composition, up to 5 height measures, a ramped activity protocol, and a nutrition and physical activity screener. Participants will wear an accelerometer for the week. On the final study day, 2 samples of urine or saliva, which complete the doubly labeled water protocol, will be obtained. The analysis will include descriptive statistics, Bland-Altman plots, concordance correlation, and regression analysis.
RESULTS: The study received extramural federal funding in July 2019. Data collection was initiated in March 2020. As of April 2024, a total of 143 (female participants: n=76, 53.1%; male participants: n=67, 46.9%) out of 232 participants have been enrolled. Data collection is expected to continue throughout 2024. A no-cost extension until November 2025 will be requested for data analysis and dissemination of findings.
CONCLUSIONS: This study furthers previous pilot work that confirmed the acceptability and feasibility of obtaining alternate height, body composition, and energy expenditure measures. The findings from this study will enhance screening, prevention, and treatment of abnormal weight status by facilitating the accurate identification of youths\' weight status category and recommendations of daily caloric needs for this population that is at higher risk of obesity. Furthermore, the findings have the potential to impact outcomes for youth diagnosed with disabilities other than spina bifida who experience similar challenges related to alterations in body composition or fat distribution or measurement challenges secondary to mobility issues or musculoskeletal problems.
UNASSIGNED: DERR1-10.2196/52779.

Background Spinal dysraphism, characterized by incomplete closure of neural and bone spinal structures, manifests as congenital fusion abnormalities along the dorsal midline, involving the skin, subcutaneous tissue, meninges, vertebrae, and neural tissue. Magnetic resonance imaging (MRI), the preferred imaging modality for assessing spinal dysraphism across all age groups, provides direct visualization of the spinal cord without the need for contrast or ionizing radiation while also eliminating bone artifacts and allowing multiplanar imaging. The objective of this study was to evaluate the range of spinal dysraphism lesions and assess the significance of MRI in their evaluation. Methodology Thirty patients with suspected spinal dysraphism underwent evaluation at the Medical College Hospital and Study Centre in Vijayapur, India. This cross-sectional observational study included patients diagnosed or provisionally diagnosed with spinal dysraphism based on clinical and imaging profiles. Cases were identified through preliminary findings on radiographs. Results The study encompassed individuals aged one month to 20 years, with the largest proportion of patients (36.67%) falling within the 1-5-year age group. Spina bifida was the most prevalent spinal abnormality, accounting for 70% of cases. In 12 patients (40%), the most prevalent location of involvement was the lumbosacral spine. Conclusion MRI provides excellent tissue differentiation, particularly of lipomatous tissue, with reproducible and comprehensive section planes and relative operator independence. Moreover, MRI is beneficial for children with suspected spinal dysraphism as it can be performed without ionizing radiation, biological risks, or the need for intrathecal contrast media.

BACKGROUND: Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification.
METHODS: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied.
RESULTS: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null.
CONCLUSIONS: Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.

Background Spina bifida (SB) leads to various complications, such as bladder and bowel disorders, which can significantly impact quality of life (QOL). Parents of children with SB are often heavily involved in bladder and bowel management, which can affect their own QOL. Therefore, transitioning to independent bladder and bowel management is pivotal because it influences the QOL of both children with SB and their parents. In this study, we investigated changes in health-related quality of life (HRQOL) among children with SB and their parents in the process of attaining independence in bladder and bowel self-management. Methods Children with SB aged 8-17 years and their parents completed the Japanese version of the QOL assessment in SB for children/teenagers (QUALAS-C/T-J) and the Short Form-8 (SF-8). Independence in bladder and bowel management was assessed using a visual analogue scale (VAS). We calculated the correlation between children\'s or parents\' HRQOL and the children\'s level of independence in bladder and bowel management. Additionally, we conducted a Mann-Whitney U test on the scores of the higher and lower independence groups. The correlation between parent and child HRQOL was analyzed by dividing children\'s independence into two groups. Results This study consisted of 83 parent-child pairs. Parents\' and children\'s HRQOL and levels of self-management independence were not significantly correlated, either overall or by level of independence. The parent-child group with less independence, especially in bowel management, showed moderate to strong HRQOL correlations, whereas the group with more independence showed weaker correlations. Conclusions The strength of the correlation for parent-child HRQOL was found to change based on the level of independence in bladder and bowel self-management. These results suggest that the strength of parent-child cohesion tends to be pronounced in regard to the children\'s degree of independence in bowel management.

BACKGROUND: Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered.
METHODS: We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child.
CONCLUSIONS: Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy.

BACKGROUND: Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case\'s uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population.
METHODS: A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component.
CONCLUSIONS: This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.

OBJECTIVE: Urinary tract infections (UTIs) are common, but overdiagnosed, in children with spina bifida. We sought to evaluate the diagnostic test characteristics of urinalysis (UA) findings for symptomatic UTI in children with spina bifida.
METHODS: Retrospective cross-sectional study using data from 2 centers from January 1, 2016, to December 31, 2021. Children with myelomeningocele aged <19 years who had paired UA (and microscopy, when available) and urine culture were included. The primary outcome was symptomatic UTI. We used generalized estimating equations to control for multiple encounters per child and calculated area under the receiver operating characteristics curve, sensitivity, and specificity for positive nitrites, pyuria (≥10 white blood cells/high-powered field), and leukocyte esterase (more than trace) for a symptomatic UTI.
RESULTS: We included 974 encounters from 319 unique children, of which 120 (12.3%) met our criteria for UTI. Pyuria had the highest sensitivity while nitrites were the most specific. Comparatively, nitrites were the least sensitive and pyuria was the least specific. When the cohort was limited to children with symptoms of a UTI, pyuria remained the most sensitive parameter, whereas nitrites remained the least sensitive. Nitrites continued to be the most specific, whereas pyuria was the least specific. Among all encounters, the overall area under the receiver operating characteristics curve for all components of the UA was lower in children who use clean intermittent catheterizations compared with all others.
CONCLUSIONS: Individual UA findings have moderate sensitivity (leukocyte esterase or pyuria) or specificity (nitrites) but overall poor diagnostic accuracy for symptomatic UTIs in children with spina bifida.

BACKGROUND: Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. This study examines the relationships between mother\'s arsenic exposure, folic acid, and spina bifida risk in Bangladesh.
METHODS: We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified by a neurosurgeon and imaging. Controls were drawn from children seen at NINS&H and nearby Dhaka Shishu Hospital. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We used logistic regression to examine the associations between arsenic and spina bifida. We used stratified models to examine the associations between folic acid and spina bifida at different levels of arsenic exposure.
RESULTS: We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother\'s arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median value of 0.46 µg/g, and no association was seen among mothers with toenail arsenic concentrations higher than 0.46 µg/g (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82).
CONCLUSIONS: Mother\'s arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.

Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, n = 10 items), teenagers (QUALAS-T, n = 10 items) and adults with spina bifida (QUALAS-A, n = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8-16) for QUALAS-C, 10 min (range 9-15) for QUALAS-T and 24 min (range 9-38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients\' evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.