Spina Bifida Research Articles

Long-term Outcomes of "Clam" Bladder Augmentation in a Pediatric Population With Neurogenic Refractory Bladder Dysfunction: A 20-Year Follow-up Experience at Single Center.

Bladder augmentation (BA) is the gold standard treatment to increase compliance and treat neurological detrusor overactivity (DO) in children with neurological bladder refractory to medical treatment. In pediatrics, bivalve cystoplasty (Clam) is preferred to supratrigonal cystectomy. Our initial aim was to evaluate the re-intervention rate and long-term outcomes of BA in relation to Clam in children. The secondary aim was the evaluation of refractory DO during follow up after Clam cystoplasty. A retrospective analysis was performed including all patients < 18 years of age operated for BA with Clam for neurological bladder (01/2004 to 01/2023). Pre- and postoperative urodynamics were performed. Twenty-six patients (14 girls and 12 boys) underwent surgery for BA. The median age was 8 years (IQR 5-12). The causes of Neurogenic Low Urinary Tract Dysfunction were spina bifida in 8 patients, Hinman syndrome in 8 patients and sacral agenesis in 8 patients. The ileum was used in 100% of cases and 8 children had continent catheterizable channels inserted (29.6%). The overall re-intervention rate was 41% (11/27) for median follow-up of 7 years (IQR 4-12). The rates of early and late complications > Clavien 2 were 11% and 22% respectively. BA resulted in significant postoperative improvements (at 1, 5, 10 and 15 years) in compliance (p=0.0332), detrusor overactivity (DO) (p=0.032) and bladder capacity (167ml preoperatively and 425ml at 15 years (p<0.0001)). No refractory DO was identified, and no second augmentation procedure was required during the follow-up period. Two children had a Bricker (7%) due to cognitive impairment preventing self-catheterizing. BA with clam cystoplasty seems a safe and effective treatment for children with neurological bladder. The re-intervention rate is comparable to current literature, and long-term urodynamic parameters demonstrate sustained improvements. The absence of refractory DO and additional augmentation procedures highlight the favorable long-term outcomes of this surgical approach.

Colonic Manometry in Pediatric Patients with Spina Bifida: Results from a Retrospective Cohort Study

Background/Objectives: Patients with spina bifida (SB) commonly experience neurogenic bowel dysfunction, characterized by defecation-related symptoms. While anorectal dysfunction and slow transit constipation (STC) have been implicated, the role of colonic motility in SB remains unclear. This study aimed to evaluate colonic motility in SB patients with refractory bowel dysfunction. Methods: This retrospective cohort study included SB patients who failed the repeated optimization of a bowel regimen including stimulant laxatives and subsequently underwent anorectal manometry (ARM), colonic transit time (CTT) studies, or colonic manometry (CM). Diagnostic findings were analyzed alongside treatment outcomes. Results: A total of 13 patients with myelomeningocele were included; one declined further treatment, and 12 underwent treatment optimization, with four achieving bowel continence. Of the five patients who proceeded with advanced motility testing, two had abnormal ARM findings, one of three had abnormal CTT results, and all five had normal CM findings. Conclusions: These findings suggest that anorectal dysfunction or STC may play a larger role in refractory bowel symptoms, while colonic motility appears to be preserved, and this highlights the importance of maximizing conservative therapies, particularly with stimulant laxatives, before pursuing invasive tests or surgical interventions for bowel dysfunction in this population.

Large L5-S1 Lordosis is an Independent Risk Factor for recurrENCE AFTER BOne Union of Pediatric Lumbar Spondylolysis at L5: A Retrospective Case-control Study.

Retrospective case-control study. To determine risk factors for recurrence of pediatric lumbar spondylolysis at L5 after return to sport in patients who achieved bone union with conservative treatment. Pediatric lumbar spondylolysis is a stress fracture commonly observed in adolescent athletes, particularly at the L5 vertebra. Because some patients experience a recurrence of spondylolysis after bone fusion with conservative treatment, identifying risk factors for recurrence may help athletes continue sports activities, maintain performance levels, and preserve mental health. Of the 375 pediatric patients (<18 years of age) who received conservative treatment for lumbar spondylolysis at L5 between 2015 and 2021, 296 patients who achieved bone fusion and returned to their original sports activities were analyzed. Recurrence rate, sports, pathological stage of spondylolysis at initial examination, presence of spina bifida occulta (SBO), duration of conservative treatment for initial spondylolysis, and radiological parameters including lumber lordosis, L5-S1 lordosis, and sacral slope were examined. Recurrence and non-recurrence groups were compared using univariate and multivariate analyses to investigate risk factors for recurrence. A receiver operating characteristic (ROC) curve was drawn to determine cut-off values of the parameters to predict spondylolysis recurrence. Recurrence was observed in 52 out of 296 patients (17.6%). Multivariate logistic regression analysis revealed that a large L5-S1 lordosis was a significant independent risk factor for recurrence. ROC analysis demonstrated a cut-off value of 24.5° for L5-S1 lordosis. Age, sex, SBO, and duration of conservative treatment for initial spondylolysis were not significant predictors of recurrence. We identified large L5-S1 lordosis as an independent risk factor for recurrence of pediatric lumbar spondylolysis at L5 following conservative treatment. Intensive athletic rehabilitation to prevent recurrence and follow-up measures to monitor and detect recurrence are recommended for patients with large L5-S1 lordosis.

Neural tube defects in a war-torn Tigray regional state of Ethiopia: a retrospective study of 54,626 deliveries

BackgroundThe 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.MethodsThis 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.ResultsOut 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.ConclusionThis 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.

Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance

ABSTRACT Introduction: The genetic diversity of the population in India, shaped by its unique history of migrations and varied ethnic landscape, suggests the possibility of genetic profiles distinct from the western populations. Objective: The objective is to investigate the genetic basis of spina bifida in the Indian cohort through whole-exome sequencing and pathway enrichment. Methods: The variants of uncertain significance (VUS) of spina bifida were identified through whole-exome sequencing in the study cohort (n = 3). The pathogenic, likely pathogenic, and VUS were analyzed for protein–protein interactions and functional associations with genes implicated in spina bifida using tools such as STRING and KEGG pathways, which were validated through a literature review. The study was focused on the Wnt/planar cell polarity signaling pathway, which is crucial for neural tube closure. Results: The study-cohort was collectively represented through 40 common VUS, including eight deleterious SNPs related to genes AP3D1, NLRP9, PCDHGA11, PRSS3, MTSS2, ENDOV, C9, and NSD3. These genes were functionally linked to neural development, immune response, and cellular processes critical for neural tube closure. Notably, interactions were observed between four genes (NLGN2, PKD1, PRSS3, and PLK1) and CTNNB1 (Wnt signaling pathway) crucial for embryonic neural tube formation. Conclusions: This study has identified novel genetic variants and pathways potentially contributing to the etiopathogenesis of spina bifida in the Indian population. Future research with larger cohorts and functional studies is necessary to validate these findings and explore their potential for clinical applications in spina bifida.

Folic Acid Deficiency with Inadequate Antenatal Care as Risk Factor of Spina Bifida: A Case Report

INTRODUCTION:Folate (vitamin B9) is a type of essential nutrient which recommended supplementation for all women, particularly those planning to conceive, because, periconceptional use decreases the occurrence and recurrence of fetal neural tube defects (NTDs). NTDs develop when a portion of the neural tube fails to close normally during the third and fourth weeks after conception. With Myelomeningocele (spina bifida) is the most common neural tube defect. CASE PRESENTATION:A 20 years old pregnant female came to Emergency Departement with complaint of abdominal pain with history of improper knowledge of folic acid consumption in pregnancy and unroutine Ante Natal Care (ANC) then her newborn with 3100 gram body weight noticed with Spina Bifida. DISCUSSION:Folic acid deficiency was a common risk factors which trigger NTDs upon newborn, the importance of folic acid during fetal development become a recommendation, for about 400 μg of folic acid has been recommended in the first month before conception and throughout the first trimester, other also suggest 400 μg of folic acid as a daily dose for five to six months before pregnancy as it take approximately 20 weeks to maintain the level needed to decrease the risk of NTDs CONCLUSION:Spina Bifida is the most common Neural Tube Defects that happens on newborn baby, among all the risk factors which could triggers the NTDs, folic acid deficiency is the highest. Keywords: Folic Acid Deficiency, Antenatal Care, Spina Bifida

Neural Tube Defects in Eastern Libya: A Five-Year Retrospective Study

Neural tube defects are developmental abnormalities that occur during embryonic neural formation, leading to a range of clinical outcomes. This study investigates the clinical characteristics and prevalence of NTDs in Eastern Libya over five years. A descriptive hospital-based retrospective study was conducted at Aljala Hospital from 2015 to 2019. Data from 214 patients, aged 2 to 120 days, were analyzed. The study assessed clinical presentations, demographic data, timing of surgery, and complications. The most common form of NTD, spina bifida cystica, was the most common type of NTD, with a higher prevalence in males than females. A lack of awareness about folic acid supplementation and limited use of advanced imaging were significant findings. Hydrocephalus was frequently associated with NTDs, and shunt placement occurred predominantly postoperatively. Complications included wound sepsis, CSF leaks, and meningitis. The study emphasizes the need for improved preventive strategies, early antenatal diagnosis, and multidisciplinary care for NTD management in Libya.

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings

AbstractSpina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele—the most severe form of spina bifida often associated with a markedly diminished quality of life—accounts for a significant portion of cases. A broad range of genetic and environmental factors, many of which are still unknown, influence spina bifida, making it difficult to provide a comprehensive etiology for the disorder. Folic acid supplementation aided by the mandatory fortification of food is preventive; still, spina bifida persists due to numerous other confounding factors that affect risk. This article reviews the latest studies pertaining to the risk factors and genetics involved in spina bifida in an attempt to elucidate the complex background of the congenital malformation. Additionally, this review highlights the significant impact of environmental pollutants, adverse medication effects, and maternal health conditions such as diabetes and obesity on the prevalence of spina bifida. Emerging research on gene‐environment interactions provides insight into how specific genetic variants may influence susceptibility to these environmental factors. We also discuss new technologies in genetic sequencing that show promise for the large‐scale discovery of genes associated with spina bifida risk. Understanding these intricate interactions is crucial for developing effective prevention and intervention strategies.

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.

Ophthalmic Outcomes in Children With Spina Bifida Myelomeningocele in Ireland.

To investigate the ophthalmic complications associated with spina bifida myelomeningocele (SBM) in Irish children and to evaluate the impact of spinal lesion levels and shunt status on visual outcomes. A retrospective audit was conducted on 129 children with SBM, examining visual acuity, refractive errors, strabismus, papilledema, optic atrophy, and cortical visual impairment (CVI). The median age of participants was 6.9 years (interquartile range [IQR] = 7.07), comprising 69 females (53.5%) and 60 males (46.5%). Data were analyzed using chi-square and Kruskal-Wallis tests to assess associations between spinal lesion levels, shunt status, and visual outcomes. The majority of lesions were lumbar (60.47%), followed by sacral (20.16%), thoracic (18.60%), and occipital (0.78%). Ventriculoperitoneal shunts were present in 67.44% of participants. Most children had good visual acuity, with visual impairment observed in 18.2%. Significant refractive errors were present in 40.8% of cases, whereas strabismus was observed in 33.3% of patients, predominantly esotropia. Papilledema, optic atrophy, and CVI were present in 12.4%, 5.4%, and 4.7% of participants. Higher spinal lesion levels were significantly associated with worse visual acuity (P = .019), whereas ventriculoperitoneal shunt status was significantly associated with papilledema (P = .034) and significant refractive errors (P = .019). No significant associations were found for strabismus, optic atrophy, or CVI. Ophthalmic complications such as refractive errors, strabismus, and visual impairment are common in children with SBM. The authors found that higher spinal lesions were associated with worse visual acuity. Shunt placement was also associated with a history of papilledema and higher rates of significant refractive error. [J Pediatr Ophthalmol Strabismus. 20XX;XX(X):XXX-XXX.].

Evaluating Access to Neuropsychological Services for Individuals With Spina Bifida: Insights From the 2022 Provider Survey

Background: Many people with spina bifida (SB) have congenital brain malformations and receive neurosurgical intervention that can impact cognitive, behavioral, and emotional functioning. The Spina Bifida Association's (SBA) guidelines for care recommend that people with SB have neuropsychology evaluations to assess cognitive, behavioral, and emotional functioning throughout their lifespan; however, people with SB anecdotally report having trouble finding and accessing such care. Objectives: The goal of this study was to gain information about neuropsychology services available to people with SB and identify possible barriers to care. Methods: Neuropsychologists in the United States were invited to complete a practice-focused survey created by members of the Spina Bifida Neuropsychology Collaborative (SBNC). The survey was emailed to professional neuropsychology listservs and directly to providers at the SBA Clinic Care Partner and National Spina Bifida Patient Registry (NSBPR) sites. Results: Responses from 34 neuropsychologists (representing 22 sites, including 40% of SBA Clinic Care Partner sites and 67% of NSBPR sites) indicated that multilingual SB-focused neuropsychology services are available within all regions of the United States. Comprehensive, outpatient evaluations are common; however, integration of neuropsychology services into inpatient settings and multidisciplinary clinics is limited. Respondents report that waitlist time is the most frequent barrier to neuropsychology care, followed by cost/insurance/payor type, travel/transportation difficulties, and limited referrals. Conclusion: There are considerable gaps in the currently available array of US-based neuropsychology services for individuals with SB. Neuropsychologists and SB clinical programs are encouraged to strategically increase availability of neuropsychological services and expand care options.

Emotional well-being in transition-age adults with pediatric-onset disabilities: A cross-sectional study.

The transition from childhood to adulthood often involves emotional challenges. These problems may be especially prominent for transition-age adults (TAA) with pediatric-onset disabilities, although there are currently few studies that speak to this. The aim of this study is to characterize depressive symptoms and the association with family functioning in a sample of TAA with pediatric-onset disabilities. This sample is comprised of 55 TAA (18-28 years of age, M = 20.88, SD = 2.49) who were followed by pediatric rehabilitation medicine clinics. Participants have childhood acquired brain injury (n = 17), spina bifida (n = 10), or neuromuscular disorders (n = 28). Participants completed the Center for Epidemiological Studies-Depression scale and the Family Assessment Device Short Form. Clinically elevated depressive symptoms were endorsed by 65.4% of the sample. Forty-five percent of those with elevated depressive symptoms were not currently receiving psychotherapy services. Poorer family functioning on the Family Assessment Device Short Form and older age were independently associated with more depressive symptoms, controlling for medical condition, mobility status, and other relevant sociodemographic factors. Emotional problems are quite common in TAA with a history of acquired brain injury, spina bifida, and neuromuscular disorders, yet are seemingly inadequately managed. In view of the results of this study, TAA with pediatric-onset disabilities are likely to benefit from interventions that bolster emotional well-being and target risk factors related to their family system. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

Daily Experiences of Urinary and Fecal Incontinence in Young Adults with Spina Bifida: Preliminary Results from an Ecological Momentary Assessment Study.

Urinary (UI) and fecal (FI) incontinence are prevalent secondary chronic conditions among young adults with spina bifida (YASB). UI and FI decrease daily functioning for YASB, but no research has prospectively examined characteristics of UI and FI among YASB. We used ecological momentary assessment (EMA) over 30 days to describe the prevalence, episode-specific characteristics and negativity associated with UI and FI among a cohort of YASB. Data were collected as part of a larger 30-day EMA study prospectively examining the daily prevalence and context of UI and FI in adults with SB. We drew an analytic sample of young adults (YASB) participants aged 18-27 years (N=23 [26.1% of all study-participants [N=88];). Participants completed an end- of-day EMA tracking the frequency, dry intervals, volume, activity avoidance, management, positive and negative mood, current UI (UIA) or FI (FIA) anxiety, past UIA and FIA and past number of UI or FI events. YASB contributed a 643 daily EMAs. Nearly 60% (370/643) of all daily entries was associated with a general report of incontinence (UI: 54.1% [348/643]; FI: 20.8% [134/643]). Prevalence, characteristics and negativity associated with UI and FI varied significantly from day-to-day. Higher UI frequency, shorter dry intervals, greater UI volume, needing management help, avoiding activities because of UI, higher past median UIA, higher negative mood and fewer past UI events were associated with higher daily UIA. Shorter FI dry intervals, higher past median FIA, higher negative mood and fewer past FI events were associated with higher daily FIA. Day-to-day experiences of UI and FI vary among adults with SB across multiple dimensions. Negativity about incontinence when it occurs varies not only based on individual- and episode-specific characteristics, but also on incontinence in the preceding days. Operationalizing these insights into potential clinical interventions warrants further investigation. Young people with SB (YASB) experience day-to-day differences in the characteristics of urinary (UI) and fecal (FI) incontinence (e.g. frequency, self-management) events and the way they felt (e.g. affect) about UI and FI. The unique relationship of these factors to UI and FI anxiety suggest novel potential points of intervention.

Characteristics of upper lumbar spondylolysis in children.

Pediatric lumbar spondylolysis (LS) is common in junior and senior high school athletes. Lower LS (L4-L5 level) is more common in children, and upper LS (L1-L3 level) is relatively rare; therefore, the pathogenesis of upper LS remains unclear. To elucidate the mechanisms of upper LS by identifying and comparing characteristics between upper and lower LS cases. Retrospective cross-sectional study. This study included 842 pediatric patients aged ˂18 years diagnosed with single-level acute LS at a single outpatient clinic between 2015 and 2022. The rate of upper LS, age, sex, participation in flexibility sports, presence of spina bifida occulta (SBO), and radiological parameters including lumber lordosis, L1-L4 lordosis, L4-S1 lordosis, and sacral slope. We retrospectively analyzed the data of all patients with acute LS diagnosed using plain radiography, multidetector computed tomography, and magnetic resonance imaging. The upper and lower LS groups were subsequently compared using univariate and multivariate analyses to investigate factors associated with upper LS. Of the included 842 patients, 88 (10.5%) had upper LS. Multivariate analysis showed that older age (odds ratio, 1.62; P <0.001), flexibility sports participation (odds ratio, 2.50; P=0.041), lower prevalence of SBO (odds ratio, 0.49; P=0.011), increased L1-L4 lordosis (odds ratio, 1.16; P <0.001), and decreased L4-S1 lordosis (odds ratio, 0.84; P <0.001) were significantly associated with upper LS development. Patients with upper LS had clearly different characteristics from those with lower LS in terms of age, participation in flexibility sports, presence of SBO, and segmental lordosis of the lumbar spine. This study will help further research in elucidating the mechanisms of upper LS.

Outcomes and Complications of Chait Trapdoor Cecostomy in Pediatric Patients with Therapy-Resistant Constipation and Fecal Incontinence: A 14-Year Retrospective Study.

Aim of the study To assess the incidence and types of complications and patient-reported outcomes in pediatric patients with therapy-resistant constipation or fecal incontinence (FI) without constipation who underwent Chait TrapdoorTM cecostomy (CTC). The findings contribute to the discussion on selecting the optimal antegrade continence (ACE) procedure for this population. Materials and Methods A retrospective review was conducted on all pediatric patients with therapy-resistant constipation or FI without constipation who underwent a CTC procedure at our tertiary referral center between 2009 and 2023. Postoperative complications were classified using the Clavien-Madadi classification. At their most recent follow-up in 2023, patients reported satisfaction with their CTC. Results The study included 62 children (median age 12 years [IQR 8-14; range 1-17], 42% male), with a median follow-up of 4 years [IQR 2-8, range 0-14]. Underlying diagnoses were functional constipation (n=39, 63%), spina bifida (n=11, 18%) and anorectal malformations (n=5, 8%). A total of 49/62 patients (79%) experienced 89 CTC related complications. Minor complications (Clavien-Madadi I-II) affected 29 patients (47%) and most commonly included granulation. Major complications (Clavien-Madadi III-IV) requiring surgery occurred in 32% of patients. Despite these complications, 40/62 (65%) reported satisfaction with their CTC, as determined by partial or complete symptom resolution. Conclusions Although complications were common, 65% of the patients reported satisfaction with their CTC. These findings emphasize the need for thorough patient selection, informed counseling on potential risks, and individualized management strategies to enhance outcomes.

A Systematic Review of Parental Occupational Pesticide Exposure and Geographical Proximity to Agricultural Fields in Association with Neural Tube Defects.

Neural tube defects (NTDs) are the second most common congenital anomaly and have been widely associated with exposure to pesticides. This systematic review which analyzes the association between parental exposure to pesticides and NTDs was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. The search strategy was designed considering the population, exposure, controls, outcomes, and study design (PECOS). The inclusion criteria were epidemiological studies involving pesticides exposure during embryonic development, written in English, Portuguese, or Spanish, and performed in 12 databases. Based on the eligibility criteria, 16 articles were selected for analysis. The most frequently assessed NTDs were anencephaly and spina bifida, with 14 studies investigating each of these conditions. The assessment of pesticide exposure was based on parental occupation and residential proximity to agricultural fields. Studies differed regarding the pesticides assessed, exposure windows, and parents exposed. Regarding the outcomes, it was observed that geographic proximity to agricultural fields and a greater association with family members exposed to pesticides were found in mothers and neonates with NTDs. In relation to occupational exposure, some articles found an association with NTDs, while others did not. Therefore, an analysis of the available evidence suggests that pesticides are a risk factor in the development of NTDs.

Risk of adverse birth outcomes and birth defects among women living with HIV on antiretroviral therapy and HIV-negative women in Uganda, 2015-2021.

We assessed the risk of adverse pregnancy and birth outcomes and birth defects among women living with HIV (WLHIV) on antiretroviral therapy (ART) and HIV-negative women. We analyzed data on live births, stillbirths, and spontaneous abortions during 2015-2021 from a hospital-based birth defects surveillance system in Kampala, Uganda. ART regimens were recorded from hospital records and maternal self-reports. Using a log-binomial regression model, we compared the prevalence of 16 major external birth defects and other adverse birth outcomes among WLHIV on ART and HIV-negative women. A total of 203,092 births were included from 196,373 women of which 15,020 (7.6%) were WLHIV on ART. During pregnancy, 15,566 infants were primarily exposed to non-nucleoside reverse transcriptase inhibitor (NNRTI)-based ART (n=13,614; 87.5%). After adjusting for maternal age, parity, and number of antenatal care (ANC) visits, WLHIV on NNRTI were more likely than HIV-negative women to deliver preterm (adjusted prevalence ratio [aPR]=1.27, 95% confidence interval [CI]: 1.21,1.32), post-term (aPR=1.23, 95% CI: 1.16,1.32), or small for gestational age infants (aPR=1.35, 95% CI: 1.30,1.40). Spina bifida was more prevalent among infants born to WLHIV on ART periconceptionally compared to HIV-negative women (aPR=2.45, 95% CI 1.27,4.33). The prevalence of the other selected birth defects were similar between infants from WLHIV on ART and HIV-negative women. In Uganda, WLHIV on ART were more likely than HIV-negative women to experience selected adverse birth outcomes. Further surveillance of maternal ART exposure, including by drug class and ART regimen, is needed to monitor and prevent adverse birth outcomes in WLHIV.

Cognitive, Behavioral and Educational Outcomes in Children Aged 5-11 Years With Spina Bifida in Northern Ireland.

While improved medical and surgical care for children with pina bifida has improved their survival, some may have lower cognitive, behavioral and educational performance. The paper assesses the effect of spina bifida on cognitive, behavioral, and educational outcomes in 5-11 year olds. A cross-sectional study design was used where data were collected from parents/guardians and teachers using Behavior Rating Inventory of Executive Function, second edition (BRIEF2), Strengths and Difficulties Questionnaire (SDQ), and Teacher Academic Attainment Scale (TAAS). Nineteen parental and 13 teacher responses were received for children with spina bifida, and 8 parental and seven teacher responses for children without Spina Bifida. Overall, the majority of the sample were female. Children in both groups performed at a similar level across subscales of BRIEF2 with the exception of Working Memory. No group differences were found in SDQ scales as assessed by parents; teacher assessment of conduct problems. Hyperactivity/inattention and peer problems were higher for children with spina bifida. Anticipated matched analysis was not possible due to unequal number of participants between the groups. Children with spina bifida performed similarly as peers without spina bifida in all subjects across the curriculum with the exception of English, Mathematics, and History. Based on this small sample, a potential need for evidence-based interventions to assist children with spina bifida in the cognitive area of working memory and also in English, Mathematics and History is postulated. Larger longitudinal studies are required to confirm these findings.

Increased Hospital Encounters in Individuals With Spina Bifida Compared to the General Population: Statewide Health Care Utilization in California From 1995 to 2017.

Our goal was to understand health care utilization by comparing hospital encounters among individuals with spina bifida and the general population and to identify the factors associated with utilization. Using the Department of Health Care Access and Information database (1995-2017), individuals with spina bifida were identified and matched to controls by birth year. The primary outcome measures were the number of hospital encounters (stratified as ≤2 vs ≥3 encounters) and the time between the first and second encounters. Univariate, multivariate, and subgroup analyses were performed to identify factors associated with ≥ 3 encounters. When compared to controls, individuals with spina bifida had more ≥ 3 hospital encounters (69% vs 29%), spent more days in the hospital (58 days vs 13 days), and had a higher average charge per hospital stay ($433,537 vs $99,975, P < .001 for all). After adjusting for covariates, we found that having spina bifida was associated with increased hospital encounters compared to controls (odds ratio 3.95, 95% CI 3.77-4.14, P < .001). Individuals with spina bifida were found to have less time between their first and second encounters (2.5 vs 3.3 years, P < .001). Within the spina bifida population, sex, race, ethnicity, comorbidities, and nonprivate insurance were associated with ≥ 3 encounters. Spina bifida is associated with more hospital encounters and fewer days between first and second encounters compared to the general population. These findings highlight factors driving increased utilization of resources, thereby empowering providers to better support this vulnerable population.

Mirabegron as part of combination therapy for treatment refractory neurogenic bladder in pediatric patients with spina bifida.

Medical therapy for patients with neurogenic bladder secondary to spina bifida is a key element in their management. Mirabegron has been shown to improve abnormal bladder wall dynamics in the neurogenic bladder (NGB) population, but there is limited information on its efficacy as additive therapy in the treatment of refractory NGB in pediatric literature. This study assessed the utility of mirabegron as combination therapy in pediatric patients with spina bifida who have insufficient improvement of bladder dynamics on antimuscarinic monotherapy. We hypothesized that using mirabegron in combination with antimuscarinic therapy would lead to improved bladder dynamics on repeat urodynamic studies. This was a retrospective review of pediatric patients treated at 2 centers were included if there were high-risk urodynamic findings and/or persistent incontinence on a single antimuscarinic agent. Pre and post dual therapy initiation urodynamic assessment was performed. We included 103 patients at a median age of 10.7 years on a median of 166 days of treatment. Dual therapy lowered detrusor opening pressures and end filling pressures, in addition to improving detrusor overactivity in 32% of patients, even in the patients with the highest risk bladders (Figure). Limitations of the study include the retrospective design, the subjectivity of the treating physician in initiating Mirabegron, and the variability in urodynamic assessment. Our findings are consistent with the benefits of dual therapy in adult patients, extending this treatment option to the pediatric population. The addition of mirabegron resulted in improvement in storage pressures and subjective incontinence in pediatric spina bifida patients not adequately managed with a single antimuscarinic agent.