BACKGROUND: The Set Brave Goals app is the first digital health app (DHA) aimed at helping children with spina bifida (SB) aged 8-17 years old to select and track their urinary and fecal continence goals. Developed by children, parents, providers and researchers, its usability, or appropriateness to a purpose (\"user-friendliness\"), remains unknown. In an alpha testing stage, our aim was to determine the usability of the app prior to clinical use.
METHODS: We recruited children with SB and their parents in clinic and via social media. A recruitment goal of 10 children exceeded industry standard of 5 participants (10 participants are expected to identify approximately 96% of usability problems). Participants downloaded and used the app for a week. They completed a questionnaire, including the System Usability Scale (SUS) and closed and open-ended questions. The SUS is a 10-item validated usability questionnaire most widely used in DHA usability testing (scores range from 0 to 100, 100 representing greatest usability). Median/mean SUS scores for DHAs are 68. Mann-Whitney-U and t-tests were used.
RESULTS: Ten children with SB participated (median age: 14 years old, 6 female, 8 shunted, 8 using bladder catheterizations). Twenty parents participated (17 mothers, median age: 42 years old). Median SUS score was 77.5 for children and 73.8 for parents, corresponding to \"good\" to \"excellent\" usability (Summary Figure). There were no significant differences between child/parent scores (p = 0.69) or those for other DHAs (p = 0.11). It took a median 5-10 min to go through the app (2 parents felt it took too much time). All participants felt the app was easy to understand and use (100%). Most participants would recommend it to children and parents (children: 89%, parents: 80%), and believed it would be valuable to children (90%, 75%) and urologists (80%, 80%). Free text responses related to more varied color schemes, keeping free-text notes within the app and more flexible goal/alarm setting. These changes were incorporated into the app.
CONCLUSIONS: Usability testing prior to clinical launch identified areas for app improvement. Although this study sample met industry standards, findings are limited by a small group of participants. The app will undergo further refinement during prospective beta testing.
CONCLUSIONS: The Set Brave Goals app for children with SB has acceptable usability parameters. This justifies proceeding with wider use to formalize children\'s continence goal setting/tracking and testing its value to children with SB and their healthcare providers.

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.

This review covers the embryology, definition, and diagnosis of open spinal dysraphism with a focus on fetal ultrasound and MR imaging findings. Differentiating open versus closed spinal dysraphic defects on fetal imaging will also be discussed. Current fetal surgery practices and imaging findings in the context of fetal surgery are also reviewed.

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.

UNASSIGNED: Our goal was to better understand the health care utilization of patients with spina bifida (SB) by evaluating length of hospital stay (LOS) as well as identifying what characteristics within the SB population are contributing to shorter or longer LOS.
UNASSIGNED: By querying the Department of Health Care Access and Information database of all encounters at California-licensed hospitals from January 1995 through December 2017, this study analyzed LOS as a measure of health care utilization. Patients with SB were identified using the International Classification of Diseases-9 and -10 coding system, and the data collected for both SB and control cohorts were compared using linear and logistic regression models.
UNASSIGNED: Patients with SB spent a mean LOS of 7.3 days compared to 4.7 days among the control cohort (P < .001). In multivariable analysis, SB was found to be an independent predictor of longer LOS. Within the SB encounters, increasing comorbidities and nonprivate insurance were associated with longer LOS, while being female and Hispanic were associated with a shorter LOS.
UNASSIGNED: SB is an independent predictor of longer LOS when compared to the control cohort. These findings highlight the importance of understanding the preventive health care access and needs of the vulnerable SB population to decrease hospital utilization rates.

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.