Spina Bifida Research Articles

Usability testing of the Set Brave Goals app, a continence goal-selection app for children with spina bifida

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. 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. 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 5-10min 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. 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. 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.

An agility training model for wheelchair court tennis athletes: An experimental study

One sport for people with disabilities is wheelchair court tennis, where athletes need good agility to move. The purpose of this study was to determine the effectiveness of the agility training model for wheelchair court tennis athletes. This research is experimental. The population in this study were wheelchair tennis court disability athletes in the Special Region of Yogyakarta totaling 14 athletes (male 10, female 4, aged 19 40 years). Where athletes with various disabilities, including spinal cord injury, single amputee, double amputee, or spina bifida. The sample was divided into two based on ordinal pairing of pretest data, i.e. the experimental group was treated with five agility training models and the control group trained as usual with a coach. The statistical analysis was conducted using the SPSS software, version 21. The results showed that the agility training model for 18 treatments was effective in increasing the agility of wheelchair tennis athletes, with a p value of 0.000 < 0.05. Sport specific training programmes are essential for improving athlete performance. A clear understanding of the nuances of developing athletes with disabilities is essential to developing appropriate programmes and strategies. The results of this study are expected to make a positive contribution to the development of progressive and innovative science, the contribution of the results of this study can add insight into the agility training model for wheelchair tennis athletes.

Impact of video vector analysis of ankle foot orthoses in children with physical disability: A 10-year clinical review

Ankle Foot Orthoses (AFOs) are frequently prescribed to manage gait impairments in children with physical disability, and it is important that AFOs are prescribed and fitted appropriately to maximize potential benefits. AFO tuning, manipulation of the AFO footwear combination (AFO-FC) by means of video vector analysis, is routinely used to optimize AFO use. However, the incidence or types of changes that are implemented after this type of orthotic review are unknown. To investigate the impact of a multi-disciplinary video vector clinic on AFO provision in children with physical disability. All children who attended a video vector clinic over a period of 10-years from the establishment of the clinic were included in the study. Outcomes of the clinic were grouped into 5 categories: (1) No change to AFO-FC; (2) Altered/tuned AFO-FC; (3) Discontinued AFO-FC; (4) Recast AFO; (5) Change in prescription. Data were summarised narratively. 141 independently ambulant children were included. The diagnoses were bilateral cerebral palsy (39 %, n=55), unilateral cerebral palsy (38 %, n=54), spina bifida (9 %, n=13), hereditary spastic paraparesis (2 %, n=3) and other (11 %, n=16). No changes were made in 52 % of cases (n=74), tuning in 22 % of cases (n=31), the AFO was recast in 13 % of cases (n=19) and discontinued in 10 % of cases (n=14). A prescription change was recommended in 3 % of cases (n=4). Our findings suggest that the video vector clinic is a time efficient and effective means of assessing gait function in children with AFOs. Without assessment at the clinic, most of the children assessed would likely have been referred for a full and more time consuming 3-dimensional gait analysis. Video vector analysis at the initial AFO fitting may improve alignment and possibly reduce non-compliance at an earlier stage.

Sleep-disordered breathing on respiratory polygraphy in neonates with spina bifida.

Studies have shown a high prevalence of sleep-disordered breathing (SDB) in children with spina bifida. International standards for regular testing for SDB in this population are lacking. While there are studies investigating the prevalence of SDB in children with spina bifida, there are close to no studies in neonates. To evaluate if routine respiratory polygraphy (RPG) testing is indicated for neonates with spina bifida and if yes, with what therapeutic consequence. We conducted a retrospective cohort study of all neonates with spina bifida at the University (Children's) Hospital Zurich after fetal spina bifida repair born between 2017 and 2022, who had undergone at least 1 RPG evaluation during hospitalization on the neonatal ward. RPG were evaluated by a blinded group of experienced pediatric pulmonologists. Based on the neonatal RPG results and pediatric pulmonologist's recommendation for caffeine therapy the spina bifida cohort was divided into two groups. Neonatal baseline RPG and follow-up RPG at the age of the 3 months were evaluated. 48 neonates with RPG were included. Compared to the standard values in healthy neonates, the RPG results of this spina bifida cohort showed findings of SDB with central apnea and hypopnea. 22 (45.8%) neonatal RPG evaluations detected central SDB, prompting caffeine therapy. Follow-up RPG conducted after 3 months showed significant improvement of SDB with (almost) no need for continuation of caffeine. We recommend the implementation of routine RPG testing in neonates with spina bifida to detect SDB and facilitate early targeted treatment.

Perioperative Segmentation of the Posterior Fossa and the Keel of Goodrich in Surgical Outcomes of Chiari Malformations

Chiari I malformation (CM-I) is defined as the extension of brain tissue into the spinal cord. This study aimed to refine the methodology for the acquisition of 3-dimensional measurements of the posterior fossa and introduce occipital keel size as a new marker and its impact in patients with CM. In this retrospective study, all patients who underwent Chiari decompression surgery at Montefiore Medical Center from April 2012 to April 2022 were included. Perioperative clinical information was obtained in addition to maximal keel thickness (KT), foramen magnum area, and preoperative and postoperative posterior fossa volumes for each patient and age-matched controls. Volumetric measurements were obtained using artificial intelligence-based semiautomated segmentation. A total of 107 patients with CM including 37 males, and 70 females were studied with a mean age of 26.56±17.31 compared with 103 controls without CM. The comparison between the CM and the general population groups demonstrated a significantly increased keel size in Chiari patients. Keel size had a significant relationship with dysphagia, paresthesia, and intraoperative blood loss, while posterior volume change had a significant relationship with sex and early symptomatic improvement. The Foramen magnum area was related to tonsillar descent and more prominent in patients with spina bifida. The Keel of Goodrich is a new anatomical factor that should be taken into consideration when evaluating preoperative symptoms, and intraoperative complications in patients with CM-I. Volumetric analyses demonstrated that posterior fossa volume change had a significant impact on early symptom improvement in patients with Chiari, as did the choice of operative approach. The routine use of semiautomated segmentation of the posterior fossa may help stratify Chiari patients in the future and should be implemented in routine clinical care.

The ancient people of Balinese: a study of health status based on paleopathology remains

Humans have been constantly exposed to the environment in their daily activities, which may result in some pathological changes. Paleopathology research is rare, particularly on ancient humans who lived in Bali, Indonesia. This research is intended to gain more insight into the history of diseases and the community in the past to assist future health researchers. This study was conducted to understand variation in disease among the ancient populations in Bali, Indonesia. The study examines skeletons from the Gilimanuk, Semawang, and Pacung Sembiran sites in Bali, Indonesia, collected from 1964 to 2008. A total of 336 individuals were identified, including 63 adult males, 75 adult females, and 56 adults whose sex could not be determined. In addition, 142 children were included in the analysis. The examination of the individuals revealed the presence of various dental pathological changes, such as caries and enamel hypoplasia, as well as periodontitis. Furthermore, several bone-related diseases and abnormalities were identified, such as osteophytes, fractures, porotic hyperostosis, and spina bifida occulta. Available evidence suggests a similarity in the types of pathological changes among the ancient populations of Gilimanuk, Semawang, and Pacung Sembiran. While a comprehensive explanation of the paleopathological variations observed in these populations necessitates further investigation, the present findings hold considerable value for medical experts and anthropologists seeking to better understand patterns of disease distribution among ancient Indonesian populations. This study was funded by the Directorate General of Higher Education, Research, and Technology of the Ministry of Education, Culture, Research, and Technology of Indonesia for the fiscal year 2023.

Thoracolumbar myelocele repair: how I do it

BackgroundMyelocele 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.MethodWe 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.ConclusionSurgical 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.

(083) CHRONIC VULVAR PAIN AND URINARY DISTURBANCES REVEALING A LARGE TARLOV CYST IN A 41-YEAR-OLD WOMAN: A CASE REPORT

Abstract Introduction Perineural cysts, also known as Tarlov cysts, are cerebrospinal fluid-filled nerve root cysts predominantly located at the sacral spine. While typically asymptomatic, large Tarlov cysts may elicit discomforting symptoms. Diagnostic challenges stem from limited understanding and symptom overlap with various disorders. Objective This case report explores the presentation of a 41-year-old female patient exhibiting symptoms of vulvar pain and urinary disturbances, which were ultimately attributed to a large Tarlov cyst, highlighting the complexities of diagnosis and management associated with this condition. Methods A 41-year-old female patient with a past medical history of linear scleroderma, chronic left hip pain with leg length discrepancy, and family history of endometriosis presented to her primary care physician with vulvar pain and urinary symptoms. She had burning vulvar pain, predominantly on the left side, radiating from the vulvar vestibule to the perineum, which gradually worsened over 6 months. She also had lower back pain radiating into her legs and calves, along with increased urinary frequency, urgency, retention and burning upon micturition. Patient underwent a 11-month treatment regimen following a referral to pelvic pain specialist, including being initiated on gabapentin and vaginal suppositories, which provided significant pain relief. However, over time, her vulvar pain gradually worsened, and gabapentin was replaced with pregabalin. She underwent six weeks of pelvic floor physical therapy and received a series of peripheral nerve blocks, including multiple pudendal nerve blocks, trigger point injections and hydrodissection of connective tissue around the nerves, yielding little pain relief. Due to persistent vulvar pain, the patient was referred to our clinic. Her examination revealed tenderness upon palpation over the lumbar-sacral spine and sacroiliac joint and para-spinal muscle spasm on the left side. She had provoked vestibulodynia that was predominately on the posterior aspect of the vestibule with a Q-tip test 8/10, and about 4/10 at anterior vestibule. She also continued to have tenderness in her pelvic floor muscles. Given her history and physical exam, a spinal pathology was suspected, and lumbosacral MRI was ordered. Results The lumbosacral MRI revealed a Tarlov cyst measuring 7.7 cm x 3.9 cm x 4.2 cm, extending from the L5-S1 disc level to the S3-S4 vertebral body junction. The patient was subsequently referred to a neurosurgeon who performed a twelve-hour surgery, including a dissection of the intrasacral meningeal cyst that was causing sacral nerve root compression and subsequent wrapping of the weakened right S2-S3 nerve roots. Postoperatively, the pain, although decreased, persisted due to nerve root thinning and long-term compression of the sacral nerve roots. She is currently being managed by our clinic, pain specialists and rehabilitation. A two-year recovery period is anticipated. Conclusions This case underscores the diagnostic challenge of vulvar pain in the context of a Tarlov cyst and emphasizes the necessity for heightened clinical suspicion and comprehensive evaluation. Additionally, the case highlights the importance of considering MRI of the lumbosacral spine as an early investigation in patients presenting with otherwise unexplained chronic vulvar pain, offering a valuable diagnostic tool for identifying conditions like Tarlov cysts that might otherwise remain elusive. Disclosure No.

Patients With Spina Bifida Have Longer Length of Hospital Stay: Statewide Health Care Utilization in California From 1995 to 2017.

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. 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. 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. 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.

Health Disparities and Route of Repair of Fetal Myelomeningocele-Prenatal Versus Postnatal Repair

Background: Spina bifida (SB) is a relatively common birth defect with the highest prevalence among Hispanics. A randomized controlled trial (MOMS) demonstrated that prenatal repair yielded improved outcomes compared to postnatal repair. However, the social determinants of health can significantly impact the overall well-being of affected individuals or their eligibility for some of these evidenced-based interventions. Methods: We conducted a retrospective observational study to describe and compare the mean Child Opportunity Index (COIs) scores among patients treated at a free-standing children’s hospital who underwent either prenatal or postnatal repair of SB from January 1&amp;lt;sup&amp;gt;st&amp;lt;/sup&amp;gt;, 2012, to December 31&amp;lt;sup&amp;gt;st&amp;lt;/sup&amp;gt;, 2021. We excluded patients with identifiable maternal and fetal contraindications to prenatal repair, as per the MOMS trial eligibility, apart from those pertaining to socio-economic status. RESULTS: Among a total cohort of 51 fetuses, 86% (n = 44) underwent postnatal repair for SB, while 14% (n = 7) received prenatal repair. Patients who underwent prenatal repair exhibited lower COI scores across all domains (education, health, and environment, social and economic) on national, state, and metro levels compared to the postnatal group. Our cohort showed a higher percentage of primary commercial insurance in the prenatal (fetal) surgery group (57.14%) versus the postnatal surgery group (47.73%), without attaining statistical significance (p=0.25). Conclusion: While COI scores across all domains were lower in the prenatal cohort, our data does not suggest a statistically significant difference between prenatal and postnatal surgery groups. This highlights the need for future studies with larger sample sizes to further explore and define this relationship.

Middle Cerebral Artery Doppler before and after Fetal Spina Bifida Repair: An Indirect Sign of Hindbrain Compression and Decompression?

Reduced middle cerebral artery resistance indices (MCA-RI) in fetuses with spina bifida (fSB) are commonly observed. Compression of neuronal pathways in the brainstem due to hindbrain herniation (HH) and disturbed cerebrospinal fluid circulation likely cause an imbalance of the autonomic nervous system. This may increase systemic vasoconstriction and compensatory increase cerebral vasodilation (like brain sparing). The aim of this study was to systematically analyze all fetal MCA-RI before and after fSB repair and to compare their correlation with the presence and postsurgical resolution of HH. 173 patients were included. Standardized ultrasound examinations including MCA and umbilical artery (UA) Doppler as well as assessment of HH presence and regression were performed. Fetuses with MCA-RI &lt;5th percentile (P) before fetal surgery were compared to the group with normal MCA-RI and correlated to the presence of HH before and its regression after fSB repair. 30% (49/161) fetuses showed RI's &lt;5th P before fSB repair. All fetuses had normal UA-RI. 99.4% of fetuses (160/161) showed normal of MCA-RI before delivery. Normalization occurred within a mean of 1.3 ± 1.2 weeks. HH regression was observed in 97% in the group with normal MCA-RI and in 96% in the group with MCA-RI &lt;5th P before surgery (p = 0.59). Time lapse to HH regression after fSB repair was 1.8 ± 1.7 and 1.9 ± 1.6 weeks, respectively. In fetuses with MCA-RIs &lt;5 P before fSB repair, a parallel timely course of MCA-RI normalization and HH regression was noted. To suggest common pathogenic factor(s), more studies are needed. However, normalization of the fetal cerebral circulation could be a further benefit of fSB repair.

Quality of Life and Its Associated Factors Among Children with Spina Bifida in Ethiopia: A Cross-Sectional Study to Inform Policy and Practice

Congenital myelomeningocele, or spina bifida (SB), is the predominant congenital anomaly of the central nervous system. Beyond its implications on neonatal mortality, SB impacts the long-term quality of life in affected children. This study sought to investigate the health-related quality of life (HRQoL) among children with SB treated at Ethiopia's leading pediatric neurosurgical facility. Set at Zewditu Memorial Hospital in Addis Ababa, Ethiopia, this hospital-based cross-sectional study spanned from June 30 to September 30, 2022. It incorporated 232 children, using data gathered through interviewer-led questionnaires. The HRQoL was measured using the PedsQL 4.0, a 23-item generic scale. The study's participants had a median age of 5years (interquartile range=3 to 6years). The aggregate mean scores on the PedsQL 4.0 tallied at 68.59±18.01. The lowest scores emerged from queries on school participation, whereas physical and emotional functioning registered the highest scores. Through multiple regression analyses, variables such as family income, monthly household income, number of children, and the presence of a neurogenic bladder showed strong association with HRQoL. This study fills a gap in the literature providing information on the HRQoL and its associated factors for children with SB in low-resourced settings. We champion the proactive integration of quality-of-life metrics into neurosurgical care policy and practice. Given the enduring consequences of SB, interventions honing the HRQoL can steer children toward realizing their intrinsic and enhance societal participation and contribution.

Accuracy of Urinalysis for UTI in Spina Bifida.

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. 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. 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. 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.

Radiation exposure in pediatric videourodynamics: An evaluation of safety in comparison to voiding cystourethrogram

Children with spina bifida (SB) undergo a videourodynamic study (VUDS) or urodynamic study and voiding cystourethrogram (VCUG). A standardized protocol for imaging during a pediatric VUDS has not been established. Our aim is to quantify radiation exposure and establish a baseline for children with spina bifida (SB) undergoing VUDS in current practice at our institution. This is a retrospective study from 2013 to 2020 of consecutive pediatric SB patients undergoing VUDS by a single provider. Patients were categorized into three groups based on age; group 1 (0-2YR), group 2 (2-10YR), group 3 (>10YR). Radiation data was reported as mean air kerma (AK), dose area product (DAP) and exposure time (seconds). Effective dose (ED) was calculated based on radiation quantity (Air Kerma, AK) and organ sensitivity. The lifetime attributable risk (LAR) was calculated based on AK and a risk coefficient. Data points calculated for patients undergoing VUDS were then compared to age matched institutional VCUG data in the same age groups. 398 patients undergoing VUDS met inclusion criteria and 262 independent patients underwent VCUG. ED increased with age in both VUDS and VCUG. All VCUG groups were found to have a higher ED than VUDS. The LAR for VUDS groups 1-3 was 0.001, 0.002, and 0.006, respectively. Reported in percentages, there is a 0.1%, 0.2%, and 0.6% chance, respectively, of age groups 1, 2 and 3 developing cancer as a result of the radiation exposure from a VUDS. Our study found that ED was low across all age groups for VUDS, comparing favorably to the VCUG groups. VCUG was selected as a benchmark comparison for its diagnostic similarities and, at times, overlapping indications. Few studies have described ED with respect to VUDS or extrapolate the ED of VUDS into LAR in the pediatric population. We recognize that we have not determined the true ED of the gonads and bladder, rather we have overestimated, as the data is based on an international reference point proximal to the exposed individual. However, LAR was calculated for each age group and revealed that patients are at a negligible increased risk of developing malignancy secondary to exposure compared to the general population. Our current practice for pediatric VUDS has exhibited consistently low radiation exposure amongst all age groups. Moving forward, we have the foundation and flexibility to create an imaging protocol for pediatric VUDS, while taking more calculated steps toward incorporating ALARA, as low as reasonably achievable, principles. A protocol adhering to the ALARA principle could provide consistency across institutions and aid in multi-institutional studies.

Current Trends for Children With Spina Bifida: A Survey of Pediatric Physical Therapists.

To describe contemporary physical therapy practice and management of children with spina bifida (SB) in the context of the International Classification of Functioning, Disability, and Health (ICF) framework. A descriptive, cross-sectional electronic survey was sent to US pediatric physical therapy clinics and posted in the American Physical Therapy Association Pediatrics newsletter. Data were analyzed using content analysis. Codes were compared, refined, and condensed into categories. A total of 163 participants were included. Most assessments evaluated the ICF Activity component. Most frequently reported ICF components: impairments=decreased strength (17.9%), activity limitations=limited walking (22.5%), and participation restrictions=restricted socializing/playing with peers or siblings (22.6%). The most prevalent intervention was strength training. Physical therapists (PTs) in the United States are performing assessments and interventions supported by available evidence; however, knowledge translation and more research are needed to support best practices in PT management of children with SB.

Arsenic modifies the effect of folic acid in spina bifida prevention, a large hospital-based case-control study in Bangladesh

BackgroundSpina 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.MethodsWe 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.ResultsWe 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).ConclusionsMother’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.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.

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. 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. 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. 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.

World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects-A case study of global partnerships for a successful resolution adoption.

On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification."The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024.The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030. This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations. WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership. The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.

Transitional Urology in Korea: Initial Insights Through a Cross-Sectional Study.

In Korea, the field of transitional urology (TU) is in its nascent stages, with its introduction only beginning. This study aims to evaluate the existing state of TU prior to implementing a transition protocol, and to identify key areas of focus for the development of an effective transition protocol. From June 1, 2021 to May 31, 2023, clinical data were retrospectively collected for patients who visited the adult urology or pediatric urology outpatient departments of this hospital and were aged 10 or older, with medical conditions falling under the category of TU. We analyzed the patient distribution across different disease groups. The transitional stages were categorized from T1, indicating initial care by pediatric urologists, to T4, denoting complete transition to adult care. 'T4x' was used for patients with unknown medical histories, and 'T4only' for those who had never been under pediatric urology care. During a 2-year period, a total of 1,484 patients received outpatient care for diseases in TU field. The most prevalent diseases were hypospadias (40.4%), spinal bifida (37.3%), and congenital ureteral anomalies (17.7%), with other conditions accounting for 4.6%. Among 553 spinal bifida patients, only 5.3% completed transitional care (T4), while 80.1% were in the initial phase (T1). For patients introduced to adult urology (T2-T4), 37.7% reached T4, highlighting a marked increase in transition completion within this subset (P<0.001). TU in Korea is in its nascent stage, with a significant gap in the initiation and completion of transitional care for patients with congenital urologic conditions. Early initiation and active engagement in transitional care are crucial for successful transition. This study highlights the need for structured transition protocols to address the complex needs of this patient population.