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A survey of 69 women at risk for carrying a fetus with a disability found most would choose to terminate a pregnancy that tested positive for a disability regardless of type of disability (either Down syndrome or spina bifida). The decision was not related to knowledge about disabilities but was negatively related to knowledge of disability-related services. (Contains references.) (DB)

A study asked 166 undergraduates what they would do if through prenatal testing they discovered that they (or their partner) were carrying a fetus with disabilities. Respondents were more uncertain about whether to continue the pregnancy when the fetus was diagnosed with Down syndrome than with spina bifida or hemophilia. (Contains references.) (Author/CR)

A study involving 14 Australian mothers of children with spina bifida, 17 mothers with children with Down syndrome, and 38 control mothers, found that the experiences of being a mother were characterized by similarities rather than differences among the three groups. Differences in experiences tended to be disability specific. (CR)

This review of medical concerns in dealing with spina bifida examines neurologic and neurosurgical issues, learning issues, urological dysfunction, orthopedic issues, bowel control, latex allergy, and prenatal diagnosis and prevention. (JDD)

Mathematics performance in 32 children with spina bifida was investigated at 3.8 through 8.8 years and two years later. About half showed mathematics difficulties. At the time of the second data collection, 28% of the subjects were identified with mathematics and other learning disabilities and with language impairments. Visual perception performance and global intellectual performance were correlated with mathematics performance. (Author/DB)

Simulation training and a prompt hierarchy were found to facilitate acquisition of clean intermittent self-catheterization skills by a four-year-old male with myelomeningocele. The child was first taught to perform catheterization on a doll, then on himself. Skills were clustered into three tasks of diapering, cleansing, and catheterization. (Author/JDD)

Describes summer-camp experiences of young people who are incontinent because of spina bifida. Focuses on residential camp program as encouragement for youth to learn independent incontinence management. Describes self-catheterization program and process as minor inconvenience and positive alternative to soiled clothing and accompanying embarrassment. (TES)

Linguistic performance of 7 children (mean age=68 months) with spina bifida, hydrocephalus, and average intelligence was evaluated. Subjects dealt with the semantic-pragmatic requirements of linguistically posed problems in an age-appropriate manner. Performance declined as task demands increased but no more than performance of nondisabled age-matches. (Author/JDD)

A parent of a six-year-old son with spina bifida examines common accessibility problems in the form of six steps involved in taking the child shopping from finding a parking space to finding an entrance ramp and maneuvering in the store. (DB)

Objective: To investigate whether transcranial direct-current stimulation (tDCS) optimizes the performance of a wheelchair basketball player on precision tasks. Methods: A right-handed wheelchair basketball player (1.5 points functional class) with myelomeningocele (low lumbar level) participated in this case study. The tDCS neuromodulation protocol was applied throughout 10 interventions of 20 minutes with a current intensity of 2 mA, simultaneously with sport-specific training, 3 times a week for 4 weeks. Anodic stimulation was performed on the right cerebellar hemisphere (CB2) and cathodic stimulation in the left dorsolateral prefrontal cortex. A control participant was submitted to a sham-tDCS stimulation protocol for the same period. Functional performance was assessed before the intervention and after the 5th and 10th interventions using "pass accuracy," "free-throw shooting," and "spot shot" tests. Outcome measures were compared using percentage differences between preintervention, intermediate intervention, and postintervention values. Results: There was a gradual increase in the athlete's total and average scores in all tests performed, with an overall improvement of 78% between the baseline and final assessments, while the control participant had an overall improvement of 6.5%. Conclusion: The tDCS protocol was effective in improving performance in precision activities in a wheelchair basketball player. [ABSTRACT FROM AUTHOR]

Purpose: Renal ultrasounds are performed in patients with myelomeningocele to screen for markers of kidney health, including hydronephrosis. We evaluated the diagnostic accuracy of hydronephrosis to screen for low kidney function defined by estimated glomerular filtration rate (eGFR). Materials and Methods: We performed a retrospective cross-sectional study using data from 2 cohorts of children and youth with myelomeningocele. The first cohort is from UMPIRE (2016-2022) and the second from the National Spina Bifida Patient Registry (NSBPR; 2009-2021). We identified patients aged 1 to 18 years with available eGFR data within 6 months of an ultrasound. We excluded NSBPR patients younger than 6 years to address potential duplication across cohorts. The primary outcome was eGFR < 90 mL/min/1.73 m2, calculated using the bedside Schwartz formula. Hydronephrosis was dichotomized into any/none. We calculated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of any hydronephrosis using eGFR as the reference standard. Results: In UMPIRE, 221 patients were included with median age 2.4 years (IQR, 1.9-3.8) and 24% having eGFR < 90. Any hydronephrosis vs none conferred a sensitivity/specificity/PPV/NPV of 25%/75%/24%/77%, respectively. In NSBPR, 2269 patients were included with median age 13 years (IQR, 9.6-16.3) and 17% having eGFR < 90. Any hydronephrosis vs none conferred a sensitivity/specificity/PPV/NPV of 24%/87%/26%/85%, respectively. Conclusions: In 2 cohorts of children and youth with myelomeningocele, hydronephrosis conferred a sensitivity of ∼25% for a creatinine-based eGFR < 90 mL/min/1.73 m2. This low sensitivity suggests that hydronephrosis alone is a poor screening marker of kidney health. [ABSTRACT FROM AUTHOR]

Purpose: Identifying factors associated with emergency visits that could be delivered at lower cost sites may help guide population health strategies for pediatric patients with spina bifida. Materials and Methods: Emergency department encounters (2016-2023) by patients with spina bifida (younger than 18 years) in the Pediatric Health Information System were identified. Absence of clinical and imaging charges was defined as low-value emergency visit. We used a control population of patients (younger than 18 years) with obstructive/reflux uropathy who presented for emergency department encounters (2016-2023). Mixed-effects (with repeated individual measurements as random effect) logistic regression was fitted to model odds of low-value emergency visit. Results: In total, we included 22,672 emergency visits by patients with spina bifida. Of these, 20.7% of emergency visits were low value vs 17.7% in controls (P <.001). Costs related to low-value emergency visits account for 3.8% of all costs for emergency visit–related encounters in patients with spina bifida. Low-value emergency visits were associated with younger age (odds ratio [OR], 1.05 [1.04-1.06] per year younger), Hispanic/Latino ethnicity (OR, 1.21 [1.06-1.39] compared with non-Hispanics), Black race (OR, 1.35 [1.16-1.58] compared with White), public insurance (OR, 1.14 [1.01-1.29] compared with private insurance), and genitourinary encounter diagnosis (OR, 1.16 [1.04-1.30]). Using a standard patient, we found that the odds of low-value emergency visit across hospitals ranged from 0.31 to 5.36. Conclusions: Younger age, Hispanic/Latino ethnicity, Black and other race, public insurance, and genitourinary encounter diagnosis were associated with higher odds of low-value emergency visits in pediatric patients with spina bifida. There was wide variation across hospitals, which warrants further investigation to elucidate best practices. [ABSTRACT FROM AUTHOR]

Background: The Tigray region of Ethiopia has a significantly high prevalence of neural tube defects (NTDs), ranging from 1.31 to 2.15% of total births. The prevalence has worsened due to ongoing regional war and conflict since October 2020. This study aims to assess NTD prevalence in these challenging conditions. Methods: This institution-based, retrospective cross-sectional study was conducted across 11 public hospitals in the Tigray region. The study reviewed all delivery records from October 2020 to December 2023. Data were collected from hospital records, focusing on cases of neural tube defects (NTDs) and relevant maternal and neonatal characteristics. This retrospective analysis aimed to identify the prevalence of NTDs, as well as factors contributing to their occurrence. The data analysis involved using SPSS version 27 for comprehensive data management and statistical evaluation. Descriptive statistics provided an overview of the data, while binary logistic regression offered insights into the factors associated with neural tube defects. The results were systematically presented in both textual, tabular, graph formats to facilitate understanding and interpretation. Results: Out of 54,626 delivery records, 1,612 cases of NTDs were identified (1,434 NTD cases and 178 isolated hydrocephalus cases). The specific birth prevalence of NTDs was 262.5 per 10,000 (95% CI, 249.1-276.5 per 10,000), with NTDs being the predominant cause of stillbirths. Anencephaly (136.6 per 10,000), spina bifida (110.6 per 10,000) and encephalocele (15.4 per 10,000) were the most common defects. Risk factors for NTDs include maternal age (20–29 years), rural residency, first pregnancies, a history of early neonatal death, lack of folic acid and multivitamin use, as well as neonatal factors like stillbirth, male sex, and preterm birth. Conclusion: This study reveals the alarmingly high prevalence of neural tube defects (NTDs) in the Tigray region, with a birth prevalence of 262.5 per 10,000 births. Anencephaly, spina bifida, and encephalocele were common, contributing to stillbirths. Risk factors include maternal age (20–29), rural residency, first pregnancies, lack of folic acid and multivitamins, and neonatal factors like male sex and preterm birth. The findings stress the need for public health interventions, including folic acid awareness, better prenatal care, maternal nutrition research, stronger health systems, and a national surveillance system to prevent birth defects. [ABSTRACT FROM AUTHOR]

The purpose of the study was to assess the psychometric properties of the parent-report version of the Sibling Perception Questionnaire (SPQ) in well-siblings. Participants were 200 caregivers of healthy children ages 9–17 years who had a sibling (ages 0–18 years) diagnosed with cancer, diabetes, cystic fibrosis, epilepsy, spina bifida, or congenital heart disease. The SPQ had acceptable internal consistency reliability for the total score (α = 0.83) and displayed acceptable convergent validity as evidenced by medium to large positive correlations with the Strengths and Difficulties Questionnaire and Pediatric Quality of Life Inventory 4.0 (r 's ranged from 0.39 to 0.56). The original four-factor model displayed a poor model fit (CFI = 0.6, RMSEA = 0.11, TLI = 0.55, SRMR = 0.14) in comparison to a revised, 14-item four-factor model (CFI = 0.92, RMSEA = 0.07, TLI = 0.90, SRMR = 0.06). The shortened, 14-item parent-report version of the SPQ largely demonstrated good psychometric properties and has the potential to reduce the burden of caregivers filling out the measure. [ABSTRACT FROM AUTHOR]

Background: Spinal dysraphism is characterized by failure of fusion at dorsal midline structures through the embryonic developmental stages. A terminal myelocystocele consists of a skin-covered lumbosacral spina bifida and meningocele that directly continuous with the spinal subarachnoid space. Observation: A 43-year-old woman who was diagnosed at birth with myelocystocele in the lower segments of the lumbar spine. She was not operated in the early stages of life. At the 43th years of her old, during 9-months, the sac began to progressively increase in size. In our initial examination before surgery, an extremely large skin-covered myelocystocele sac was observed in the thoracolumbar with a diameter of approximately 60 * 70 * 40 cm. patient operated and sac repaired. More than 20 liter of cerebrospinal fluid drainaged from cyst during surgery. Lessons: The mechanism of cyst enlargement is not well understood. Progressive and severe increase in size of unrepaired myelocystocele sac is possible in old ages even without cerebral hydrocephalus. [ABSTRACT FROM AUTHOR]