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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]

ObjectiveTo identify factors associated with sexual interest and activity among adults with spina bifida and to describe the sexual profile of those who were sexually active. Sexual health of adults with spina bifida is often neglected and current knowledge on the topic is limited.MethodsAn anonymous web-based survey was advertised and administered between March 2018 and September 2018 and participants 16 years and older with spina bifida were included in this study. Respondents were asked about sexual interest, activity, and function using the validated Patient-Reported Outcomes Measurement Information System Sexual Function Profile. Bivariate and multivariable models with ordinal logistic regression were fitted to evaluate predictors of sexual interest and sexual function.ResultsOf the 261 respondents with a self-reported diagnosis of spina bifida (mean age of 38.5 years), 73.2% noted at least a little bit of interest in sexual activity. In multivariate analysis, women were less likely to report higher sexual interest than men (odds ratio (OR) = 0.53, 95% CI 0.31-0.92, P = .03) whereas those with higher physical functioning were more likely to have higher sexual interest (OR = 1.04, confidence interval (CI) 1.01-1.07, P = .03). Just less than half of respondents (46.4%) were sexually active in the past 30 days, and those with a ventriculoperitoneal shunt were less likely to engage in sexual activity compared to those without (OR = 0.36, 95% CI 0.19-0.68; P

Youth with spina bifida (SB) are at increased risk for inattention and executive dysfunction challenges. This study aimed to characterize the development of inattention and executive dysfunction in SB and examine the relationship between condition severity (i.e. lesion level, shunt status, and shunt revisions) and inattention and executive dysfunction at age 11.5 and longitudinally. Participants included 140 youth with SB. Condition severity was collected via parent reports and chart review. Parents and teachers reported on youth’s inattention and executive dysfunction using informant-based measures across five time points. Parents and teachers both reported linear decreases in inhibition and working memory problems. Development of inattention and shifting problems varied by reporter. At 11.5 years, shunt status predicted worse parent- and teacher-reported inattention and executive dysfunction, while shunt revisions predicted worse parent-reported working memory alone. Higher lesion level predicted fewer parent-reported inhibition problems at 11.5 years. Over time, more shunt revisions and higher lesion level predicted worse parent-reported inattention and inhibition, respectively. Findings suggest that inattention and executive dysfunction may significantly change over time in youth with SB, related to condition severity and reporter. Early deficit identification and intervention implementation, particularly for youth with greater SB severity, may result in better longitudinal outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Spontaneous regression of Chiari malformation type 2 (CM2) is observed rarely, as CM2 is associated with meningomyelocele (MMC) that is surgically repaired either pre- or early postnatally. While the radiological regression of CM2 occurs frequently following prenatal repair of MMC, it has been reported in only a few studies after postnatal repair. Methods: From the consecutive series of children with postnatally repaired MMC, we reviewed the clinical and radiological data regarding CM2, particularly its regression either spontaneously or following CSF diversion. Results: Eighteen children underwent postnatal repair of MMC between February 2011 and April 2023. CM2 was present in 16 (89%), and hydrocephalus in 15 children (83%), requiring shunting in 14 of them. During the mean clinical observation time (from birth to April 2023) of 59 ± 51 months, three children with CM2 (19%) underwent 1–2 foramen magnum decompressions (FMD), five children (28%) 1–4 surgical untethering procedures and 13 children with shunted hydrocephalus (93%) 1–5 shunt revisions. Out of sixteen children with CM2, we observed regression of CM2 on MRI in only one case (6%) during the mean radiological follow-up (from birth to the last MRI taken) of 49 ± 51 months. Conclusion: In our experience, spontaneous regression of CM2 in children with postnatally repaired MMC occurs quite rarely. Pathophysiological mechanisms behind the development of CM2 in children with MMC remain unclear, but our observation supports the hypothesis of an association between the downward displacement of the hindbrain and the low intraspinal pressure secondary to CSF leakage in children born with MMC. [ABSTRACT FROM AUTHOR]

Background: Myelomeningocele (MMC) is a severe form of spina bifida characterized by spinal cord extrusion into a cerebrospinal fluid (CSF) filled sac which may lead to lifelong disability. Repair of these lesions have classically occurred shortly after birth, but more recently, prenatal myelomeningocele repair techniques have been elucidated. This study aimed to investigate the outcome of surgery, particularly with subsequent spinal cord tethering, in patients with prenatal myelomeningocele closure and those with postnatal repair surgery. Materials and methods: In this retrospective study which assessed patients from April 2002 to April 2020, the data of 18 total patients with MMC were reviewed. Nine patients from each group were included, closed prenatally or postnatally, respectively. Demographic information including age and sex, birth week, infant comorbidities, presence of dermoid or lipoma, cutaneous stigmata, total number and timing of detethering procedures, presence of Chiari malformation, and need for VPS was obtained. Results: Eighteen patients including nine infants closed prenatally and nine infants with myelomeningoceles closed postnatally were reviewed. The mean age was 4 ± 3 years and 6.22 ± 2.4 in prenatal and postnatal retrospectively. There was a significant relationship between the number of detethering procedures (p-value = 0.03) and the need for a ventriculoperitoneal shunt (VPS) (p-value = 0.01) between the groups, with the prenatal closure group having lower rates of each. There was no significant difference between the groups in regard to the mean age at the detethering procedure (p = 0.4), sex (p = 0.09), birth week (p = 0.8), comorbidities (p = 0.8), presence of intraspinal dermoid or lipoma (p = 0.09), presence of cutaneous stigma (p = 0.08), Chiari (p = 0.6), fatty filum (p = 0.08), syrinx (p = 0.4), bone anomaly (p = 0.4), and spina bifida neurological scale (p = 0.66). Conclusion: There was a significant relationship between the two groups in terms of the number of detethering procedures, and the need for VPS. Our data represents a possible difference in the need for detethering surgeries and ventriculoperitoneal shunt placements between patients with prenatal and postnatal myelomeningocele closures. [ABSTRACT FROM AUTHOR]

Spina bifida is a congenital neural tube closure defect, with myelomeningocele being the most clinically significant open neural tube defect occurring in one in 1000 births worldwide as reported by Phillips LA et al. (Curr Probl Pediatr Adolesc Health Care 47(7):173–177, 2017) and Zerah M and Kulkarni AV (Handb Clin Neurol 112:975–991, 2013). With advances in fetal surgery, this condition can be corrected in utero. Despite such precision surgery, many complications may still arise, with consequent spinal cord tethering being a major one. When the roots of the spinal cord adhere to the spinal canal instead of floating freely within the dural sleeve within the canal, it is termed as "tethering" as discussed by Martínez-Lage JF et al. (Neurocirugia (Astur) 18(4):312–319, 2007). Tethering has a variety of complications, which are best avoided by analyzing the outcomes of the different dural substitutes and improving surgical techniques. This literature review evaluates the use of different dural substitutes in fetal and postnatal surgery, with their effects on spinal cord tethering. Finding a significant difference in spinal cord adherence outcomes between these two groups can help one introspect on the impact of ideal surgical techniques to be implemented, thus reducing subsequent tethering and other future surgical interventions. [ABSTRACT FROM AUTHOR]

Background: Spinal arteriovenous shunts and spinal dysraphism both have a different underlying cause, disease spectrum and developmental process; hence, these entities rarely coexist in a patient. Here, we reported four cases of coexistence of adult-onset spinal arteriovenous shunt and spinal dysraphism in the same patient along with their therapeutic embolisation. Additionally, we conducted an extensive literature review to explore the potential theories and explanations for this coexistence. Methods: We retrospectively searched our imaging database from January 2015 to December 2023 to identify instances of spinal arteriovenous shunts occurring in patients with spinal dysraphism or neural tube defect disorders. MRI and angiographic imaging, clinical presentation, treatment and follow-up were analysed. Results: Four patients with arteriovenous fistula/shunt and spinal dysraphism were included in the study. The mean age of presentation was 35.5 years. The most common symptoms were sensory disturbance and motor weakness. Arteriovenous fistula or shunt was located at the lumber region in one patient and at the sacral region in three cases. Two patients have a prior history of surgery in first decade. Two patients were treated with glue embolisation. The internal iliac artery was a common feeder in all cases. Conclusions: The rare coexistence of neural tube defects with spinal vascular abnormalities should be considered when assessing a middle-aged patient with neural tube defect and myelopathy. Correct diagnosis can help in treatment planning and thereby improve prognosis. [ABSTRACT FROM AUTHOR]

Introduction: Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 h of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC. Methods: We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995–2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death. Results: Eight patients were identified (50% male) with MMC who were born ≤ 32 weeks gestational age. Mean gestational age of the population was 27.3 weeks (SD 3.5). Median time to MMC closure was 1.5 days (IQR = 1—80.8). Five patients were taken for surgery within the recommended 48 h of birth; 2 patients underwent significantly delayed closure (107 and 139 days); and one patient's defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3 years after birth, ranging from 1 day to 16 years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria). In both cases of sepsis, patients developed signs and symptoms more than 72 h after birth. Notably, both instances of sepsis occurred unrelated to operative intervention as they occurred before permanent MMC closure. Two patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7 years. During this time epoch, 3 patients died: Two before 2 years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24 h of MMC closure. Conclusions: In our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term. [ABSTRACT FROM AUTHOR]

Purpose: Filum terminale lipoma (FTL) causes spinal-cord tethering and is associated with tethered-cord syndrome, which is treated by dissection of the entrapment. The conventional treatment for FTL involves dissection of the spinal cord through a laminotomy open approach (LOA). However, in recent years, the interlaminar approach (ILA) has gained popularity as a minimally invasive surgery. This study compares the effectiveness of the minimally invasive ILA with the conventional LOA in treating FTL. Methods: We retrospectively evaluated data on the ILA and LOA for FTL at our center. In total, 103 participants were enrolled, including 55 in the ILA group and 48 in the LOA group. Results: The ILA required significantly less surgical time and resulted in less blood loss. The improvement rate of symptoms in symptomatic patients was 84%, and for urinary symptoms and abnormal urodynamic study findings, it was 77%. The postoperative maintenance rate for asymptomatic patients was 100%. Postoperative complications of ILA included delayed wound healing in two patients (3.6%). Conclusion: Compared with LOA, ILA offers advantages in terms of shorter operative time and less blood loss, with no significant difference in long-term symptom-improvement rates between the groups. [ABSTRACT FROM AUTHOR]

Objectives: Enhanced recovery after surgery (ERAS) protocols are multimodal evidence‐based care plans that have been adopted for multiple surgical procedures to promote faster and better patient recovery and shorter hospitalization. This study aimed to explore whether worldwide fetal therapy centers offering prenatal myelomeningocele repair implement the ERAS principles and to provide recommendations for improved perioperative management of patients. Methods: In this survey study, a total of 53 fetal therapy centers offering prenatal surgery for open spina bifida were identified and invited to complete a digital questionnaire covering their pre‐, intra‐ and postoperative management. An overall score was calculated per center based on compliance with 20 key ERAS principles, extrapolated from ERAS guidelines for Cesarean section, gynecological oncology and colorectal surgery. Each item was awarded a score of 1 or 0, depending, respectively, on whether the center did or did not comply with that principle, with a maximum score of 20. Results: The questionnaire was completed by 46 centers in 17 countries (response rate, 87%). In total, 22 (48%) centers performed exclusively open fetal surgery (laparotomy and hysterotomy), whereas 14 (30%) offered both open and fetoscopic procedures and 10 (22%) used only fetoscopy. The perioperative management of patients undergoing fetoscopic and open surgery was very similar. The median ERAS score was 12 (range, 8–17), with a mean ± SD of 12.5 ± 2.4. Center compliance was the highest for the use of regional anesthesia (98%), avoidance of bowel preparation (96%) and thromboprophylaxis (96%), while the lowest compliance was observed for preoperative carbohydrate loading (15%), a 2‐h fasting period for clear fluids (20%), postoperative nausea and vomiting prevention (33%) and early feeding (35%). ERAS scores were similar in centers with a short (2–5 days), medium (6–10 days) and long (≥ 11 days) hospital stay (mean ± SD, 12.9 ± 2.4, 12.1 ± 2.0 and 10.3 ± 3.2, respectively, P = 0.15). Furthermore, there was no significant association between ERAS score and surgical technique or case volume. Conclusions: The perioperative management of fetal spina bifida surgery is highly variable across fetal therapy centers worldwide. Standardized protocols integrating ERAS principles may improve patient recovery, reduce maternal morbidity and shorten the hospital stay after fetal spina bifida surgery. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the predictive accuracy of the Pittsburgh Impairment Testing Tool. It was hypothesized that the Pittsburgh Impairment Testing Tool would have a good overall accuracy (≥80%) for predicting both ambulation and transfer ability and that overall accuracy of the Pittsburgh Impairment Testing Tool would be higher than that of other scales. Design: A retrospective chart review was used to classify 409 adults with spina bifida according to seven neurological scales. A Naïve Bayes classifier was used to obtain accuracy estimates for predicting both ambulation and transfer ability as a function of each scale. Results: The Pittsburgh Impairment Testing Tool was the only scale demonstrating >80% overall accuracy for predicting both ambulation and transfer ability. While several scales demonstrated ≥80% overall accuracy in predicting transfer ability, none were useful in predicting inability to transfer. Inability to transfer was difficult for all tools to predict. Conclusions: The Pittsburgh Impairment Testing Tool demonstrated good overall accuracy for predicting both ambulation and transfer ability. Sensory and anatomic levels were less useful than motor level in predicting functional ability. [ABSTRACT FROM AUTHOR]

Objective Benefit-finding and growth is an important process across a range of medical populations. However, it has been understudied in the context of lifelong chronic conditions, such as spina bifida (SB). This study aimed to develop a new measure of benefit-finding and growth for youth with SB, confirm its factor structure, and examine its psychometric properties. Method To generate items for the new measure, 20 adolescents and young adults with SB completed qualitative interviews regarding their experience of living with SB. Interviews were coded for benefits. Questionnaire items were generated from these benefits, and an expert panel refined the wording of these items. The resultant 31-item measure was shared with six of the 20 participants for feedback and then piloted among 251 youth with SB. The factor structure of the measure was confirmed and reliability and convergent validity were assessed. Results Both a one- and four-factor structure were supported. The four factors include: Life Perspectives and Priorities, Personal Characteristics and Traits, Connections and Opportunities, and Problem Solving. Higher total and factor scores represent greater benefit-finding and growth. The measure demonstrated excellent internal consistency (α = 0.95). The new measure also showed significant positive correlations with optimism, positive affect, and life satisfaction. Conclusions This study produced a measure of benefit-finding and growth for youth with SB. Clinically, information about what youth with SB perceive to be their areas of strength and growth from their condition provides crucial insight into which factors to enhance in this population. [ABSTRACT FROM AUTHOR]

Objective Childhood standing height has been estimated from arm span-related (heightAS) models. The authors aimed to develop and cross-validate a heightAS model in individuals with spina bifida (SB) and examine the accuracy of existing heightAS models. Methods Participants were individuals with sacral and low-lumbar SB (n = 14) and non-SB (n = 83), 7–16 years old. Arm span, age, sex, and group (SB vs. non-SB) were candidate height predictors. Sequential regression and leave-one-out cross-validation approaches were used for the model development (M1) and cross-validation (M1–M5). Existing models were: an SB-specific model from Polfuss et al. (M2) and non-SB specific models from Gauld et al. (M3), Mulu et al. (M4), and Zverev et al. (M5) studies. Results Arm span and group explained 95 % of the variance in height (R² = 0.95; p < 0.001; SEE = 3.666 cm) and were included in the M1. Mean differences between actual and estimated height were 0.0 cm (M1), 0.4 cm (M2), and 0.5 cm (M5), all not significant (p > 0.05). However, Bland-Altman analysis revealed some variability in the predictability of the models across participants with limits of agreement ranging from 7.4 to 10.9 cm. Considerable errors were observed with M3 (mean diff: −5.58 cm, 95 % CI: −1.6, −20.2 cm), and M4 (mean diff: 10.5 cm, 95 % CI: −13.8, −27.3 cm). Conclusions Models (M1, M2 and M5) may accurately estimate standing height in groups of children with SB. However, due to the wide limits of agreement, caution is recommended when applying these models for individual height estimations. [ABSTRACT FROM AUTHOR]

Objectives: The purpose of this systematic review is to provide an overview of published follow-up care programs of primary and secondary health conditions (SHCs) in spinal cord injury/disorder (SCI/D) and spina bifida and describe recommendations on content, frequency, setting of follow-up care programs for persons with SCI/D and spina bifida. Methods: According to the sequence of procedures of the AWMF (Association of the Scientific Medical Societies in Germany) a systematic literature search was performed (in PubMed, Cochrane Library and nine additional databases for guidelines) between 5 September 2019 and 22 September 2019. Publications (Jan. 2008-Dec. 2018) and guidelines (up to 2018) published in English or German and describing an evidence-based follow-up care program for persons with SCI/D or spina bifida were included. Results: The systematic literature search found 1973 publications in PubMed and Cochrane Library, resulting in 19 papers for SCI/D and 6 for Spina bifida. Additionally, we included 34 guidelines developed by reputable committees or medical associations. All eligible guidelines, and publications, were rated and classified according to the guidance of AWMF. Of the retrieved publications, and guidelines, level of evidence of follow-up care programs was mostly based on informal procedures and expert opinion or formally consent based expert opinion. None of the guidelines, or publications described an evidence based comprehensive clinical practice guideline (CPG) for follow-up care for people with SCI/D or spina bifida. Conclusion: Based on the comprehensive and extensive literature research conducted, regular (annual) follow-up care appointments at specialized SCI clinics are recommended. There is a notable absence of a comprehensive CPG covering all relevant health conditions for long-term follow-up in SCI/D or spina bifida. In order to provide persons with SCI/D with up-to-date and best possible medical and rehabilitative care, a CPG for follow-up care is urgently needed. In response to this gap, the German-speaking Medical Society of Paraplegia (DMGP) has commissioned its members to establish a guideline for follow-up care for individuals with SCI/D. The current review serves as an evidence-based framework for the development of this guideline. [ABSTRACT FROM AUTHOR]

ABSTRACT Closed spinal dysraphism (CSD) is a congenital condition caused by a failure in secondary neurulation during embryogenesis. CSD is associated with characteristic cutaneous stigmata often identified clinically. Rarely, such stigmata have been reported to occur with complex congenital intraspinal lipomas containing Pacinian corpuscle hyperplasia. Herein, we present our case of an asymptomatic 8‐month‐old female who presented with a midline lumbosacral acrochordon‐like lesion. MRI revealed a midline lipomatous lesion at S2–S3 with a fibrovascular stalk likely continuous with the acrochordon. Given the absence of neurological symptoms concerning tethered cord syndrome (TCS), only the skin lesion was removed for cosmesis. Subsequent histopathological examination revealed numerous Pacinian corpuscles in a background of dermal collagen and subcutaneous adipose tissue. No features suggested a co‐existent peripheral nerve sheath lesion (such as a neurofibroma). Given the spinal cord abnormalities, and the histologic features of a pure proliferation of Pacinian corpuscles, a diagnosis of the so‐called “Pacinioma” was made. To the best of our knowledge, only four other cases of complex intraspinal lipomatous lesions containing Pacinioma in the setting of CSD with a tethered cord have been previously reported. This case highlights the complexity of the cutaneous stigmata of CSD. [ABSTRACT FROM AUTHOR]

The Wnt/β-catenin signaling pathway is crucial for embryonic development and adult tissue homeostasis. Dysregulation of Wnt signaling is linked to various developmental anomalies and diseases, notably cancer. Although numerous regulators of the Wnt signaling pathway have been identified, their precise function during mouse embryo development remains unclear. Here, we revealed that TMEM132A is a crucial regulator of canonical Wnt/β-catenin signaling in mouse development. Mouse embryos lacking Tmem132a displayed a range of malformations, including open spina bifida, caudal truncation, syndactyly, and renal defects, similar to the phenotypes of Wnt/β-catenin mutants. Tmem132a knockdown in cultured cells suppressed canonical Wnt/β-catenin signaling. In developing mice, loss of Tmem132a also led to diminished Wnt/β-catenin signaling. Mechanistically, we showed that TMEM132A interacts with the Wnt co-receptor LRP6, thereby stabilizing it and preventing its lysosomal degradation. These findings shed light on a novel role for TMEM132A in regulating LRP6 stability and canonical Wnt/β-catenin signaling during mouse embryo development. This study provides valuable insights into the molecular intricacies of the Wnt signaling pathway. Further research may deepen our understanding of Wnt pathway regulation and offer its potential therapeutic applications. [ABSTRACT FROM AUTHOR]

Neural tube defects (NTDs), such as spina bifida and anencephaly, are severe congenital anomalies affecting the development of the brain and spine. These conditions are often linked to folic acid deficiency during early pregnancy, a modifiable risk factor. While high-income countries have implemented mandatory folic acid fortification in staple foods, resulting in significant reductions in NTD prevalence, low- and middle-income countries (LMICs) continue to experience disproportionately high rates of these birth defects. Folic acid supplementation and fortification are proven interventions for preventing NTDs, but many LMICs face political, financial, and logistical barriers to implementing these programs. This paper highlights the importance of mandatory folic acid fortification as a cost-effective public health intervention and advocates for its expansion in LMICs. It reviews the successes of fortification programs in high-income countries, explores alternative food vehicles like rice for regions with different dietary staples, and discusses the potential of multi-nutrient fortification strategies. Additionally, this paper emphasizes the need for global collaboration, enhanced monitoring and evaluation, and public health education campaigns to ensure that women of reproductive age, especially in LMICs, receive adequate folic acid. By addressing these challenges, the global health community can significantly reduce the incidence of NTDs, improve maternal and child health, and promote health equity worldwide. The time to act is now, as the benefits of folic acid fortification far outweigh the costs of inaction. [ABSTRACT FROM AUTHOR]

Background: Tethered cord syndrome (TCS) is a stretch-induced functional disorder of the spinal cord in which the caudal part is anchored by an inelastic structure. It is believed that, if the viscoelasticity of the filum is lost or compromised by either fatty infiltration or abnormal thickening, caudal tension and traction may cause undue stress upon the conus, resulting in TCS. It typically occurs in children, and it is rare in adults. Aims and Objectives: The study was conducted to know the clinicoradiological, pathological, and surgical outcomes in patients with TCS. Materials and Methods: This is a prospective observational study done in the premier institute of central India from May 2022 to April 2024. This study included patients who exhibited clinical and/or radiological features of congenital tethered cords. This encompassed both patients with tethered cord and those with TCS. Patients who failed to give consent and refused to participate in the study were excluded from the study. Results: A total of 30 patients were recruited for the study. The median age of the patients was 6-12 months (range). The gender distribution M:F was 63.3:36.6. Based on 30 cases studied, most of the patients (75%) had improvement in urinary symptoms, 57.1% of patients had improvement in bowel symptoms, 80% of patients had improvement in pain symptoms, 75% had improvement in motor deficit, and 83.3% had improvement in sensory deficit. Conclusion: Our prospective, cross-sectional study aimed at complete detethering of the spinal cord and the nerve roots along with excision of filum terminale and dural reconstruction to maintain adequate cerebrospinal fluid space around the spinal cord to prevent retethering. [ABSTRACT FROM AUTHOR]

In recent decades, intradetrusor injections of botulinum toxin A (BoNT-A) have been widely applied to treat incontinence in both idiopathic overactive bladder (iOAB) and neurogenic detrusor overactivity incontinence (NDOI). This analysis, based on the French National Hospital Discharge Database (PMSI), aims to describe real-world trends in intradetrusor BoNT-A use between 2014 and 2022. Among 32,864 patients who received at least one intradetrusor BoNT-A injection, 18,320 (55.7%) had conditions coded under iOAB, 13,376 (40.7%) under NDOI, and 1168 (3.6%) under other indications. The overall mean interval between two intradetrusor BoNT-A injections was 9.7 months, ranging from 8.7 months in patients with multiple sclerosis (MS) to 11.5 months in patients with cerebral pathologies. The median number of injections was two (quartile 1–quartile 3, 1–4) in patients with spina bifida, whereas it was five (2–10) in those with MS. Only 31% of patients with iOAB received more than two intradetrusor BoNT-A injections. Regardless of its indication, BoNT-A was well tolerated. Adverse events occurring during or requiring hospitalization included infections (3.8%), hematuria (0.53%), and bleeding episodes necessitating transfusions (0.11%), all recorded within the initial month following BoNT-A injection. Our analysis of the PMSI database highlights a broad spectrum of intradetrusor BoNT-A injection practices. [ABSTRACT FROM AUTHOR]

Intramedullary spinal cord lipomas without spinal dysraphism are rare. Although they are benign tumors, they can cause significant neurological deficits. Their tight adherence to the spinal cord presents a challenge for resection. Therefore, we review our institutional experience treating adult patients with intramedullary lipomas in the absence of dysraphism and report long-term outcomes after resection. All adult patients undergoing resection of intramedullary spinal cord lipomas at a comprehensive cancer center between June 2011 and June 2023 were retrospectively identified. Patients with spinal dysraphism or extramedullary lipomas were excluded. Patients were included if they had microscopic surgical debulking with tissue sampling confirming the diagnosis. Six patients were identified with a mean age of 35.0 ± 11.5 years, and 67% were female. Four cases localized to the thoracic spine. Symptoms included pain, numbness, and lower extremity motor weakness; only one patient reported bowel and bladder dysfunction. All patients experienced transient neurological decline in the immediate postoperative period. Five recovered to independent ambulation at long-term follow-up, including one recovering to full strength. One patient required a repeat resection after four years due to tumor progression and functional decline. Tumor progression was not recorded in the other patients. Subtotal resection is a safe and effective treatment. Detethering of the spinal cord, resection of exophytic components, and tumor debulking can improve symptoms and prevent further deterioration in most cases. The resection can be assisted using a laser to vaporize the fatty tissue of the lipoma without physical manipulation of the spinal cord. [ABSTRACT FROM AUTHOR]

Background: Obesity rates have significantly increased globally, affecting up to 40% of women of childbearing age in the United States. While prenatal repair of open fetal spina bifida has shown improved outcomes, most fetal surgery centers exclude patients with a body mass index (BMI) ≥ 35 kg/m2 based on criteria from the Management of Myelomeningocele Study (MOMS) trial. This exclusion raises concerns about healthcare equity and highlights a significant knowledge gap regarding the safety and efficacy of fetal spina bifida repair in patients with obesity. Objective: To review the current state of knowledge regarding open fetal surgery for fetal spina bifida in patients with obesity, focusing on safety, efficacy, and clinical considerations. Methods: A comprehensive literature search was conducted using the PubMed and EMBASE databases, covering articles from the inception of the databases to April 2024. Studies discussing fetal surgery for neural tube defects and documenting BMI measurements and their impact on surgical outcomes, published in peer-reviewed journals, and available in English were included. Quantitative data were extracted into an Excel sheet, and data synthesis was conducted using the R programming language (version 4.3.3). Results: Three retrospective studies examining outcomes of prenatal open spina bifida repair in a total of 43 patients with a BMI ≥ 35 kg/m2 were identified. These studies did not report significant adverse maternal or fetal outcomes compared to patients with lower BMIs. Our pooled analysis revealed a perinatal mortality rate of 6.1% (95% CI: 1.76–18.92%), with 28.0% (95% CI: 14.0–48.2%) experiencing the premature rupture of membranes and 82.0% (95% CI: 29.2–98.0%) delivering preterm (<37 weeks). Membrane separation was reported in 10.3% of cases (95% CI: 3.3–27.7%), the mean gestational age at birth was 34.3 weeks (95% CI: 32.3–36.3), and the average birth weight was 2651.5 g (95% CI: 2473.7–2829.4). Additionally, 40.1% (95% CI: 23.1–60.0%) required a ventriculoperitoneal shunt. Conclusion: While current evidence suggests that fetal spina bifida repair may be feasible in patients with obesity, significant limitations in the existing body of research were identified. These include small sample sizes, retrospective designs, and a lack of long-term follow-up data. There is an urgent need for large-scale, prospective, multicenter studies to definitively establish the safety and efficacy of fetal spina bifida repair in patients with obesity. Such research is crucial for developing evidence-based guidelines, improving clinical outcomes, and addressing healthcare disparities in this growing patient population with obesity. [ABSTRACT FROM AUTHOR]

In this article we describe fertility and the sexual aspects of several (pediatric) urological conditions: hypospadias, spina bifida and bladder exstrophy-epispadias. Hypospadias is a very common condition. Especially males with a more severe, proximal hypospadias can develop problems with sexual wellbeing. Approximately 10% experience difficulties with erections and ejaculation. The overall sexual wellbeing seems to be comparable to that of men without hypospadias. Spina bifida patients are sexually active and have just as much sexual desire as the general population. Fertility in general is reduced and female patients need adjusted doses of folic acid preconception. Urine- and fecal incontinence are important negative factors for sexual wellbeing. Bladder exstrophy-epispadias is very rare, but the complexity of this condition requires transition of care and long-term follow-up. Extensive reconstructions may be associated with problems in various phases of life. The cosmetic appearance of the penis is often a point of concern due to a short and wide aspect despite reconstruction. Urological involvement during pregnancy is preferable in mothers with exstrophy. In general, patients with these conditions are in need of good education and guidance. Preferably pro-active, thus initiated by the doctor, and with easy access to a psychologist and/sexologist. [ABSTRACT FROM AUTHOR]

Patients with spina bifida (SB), or spinal dysraphism, have several brain anomalies that influence daily life functioning. In this article we will explain how these can be investigated and what the relevance is for the care for (young) adults with SB. Predictors for problems with performance are: the level of the lesion, having hydrocephalus, having ventriculo-peritoneal draindysfunction, having seizures, and social economic status. In the daily practice you could notice that patients with SB are verbally strong, but still can get into trouble due to a lack of executive functions. Planning, handling appointments, compliance to medical advice and medication, etcetera, are more difficult for these patients. This worsens as the patient ages. It helps to offer information in a dosed manner. Use of short sentences and repetition are important. The rehabilitation team can also help, e.g. by testing neuropsychological functions and/or learning compensatory strategies. [ABSTRACT FROM AUTHOR]

Spina bifida (SB) is a developmental disorder of the central nerve system. Due to incomplete closure of the neural tube, there is a congenital spinal cord lesion, which can be accompanied by cerebral anomalies. Due to folic acid suppletion and antenatal screening, the incidence of SB has decreased. Improvements in urological and specialized health care have led to a longer life expectancy and better quality of life. Lifelong care should take place in a multidisciplinary team, including a urologist experienced in the diagnosis and treatment of neurogenic bladder disorders and concomitant problems, such as urinary tract infections, urolithiasis and malignancies. [ABSTRACT FROM AUTHOR]

In the Just like You-project we evaluated the needs of adolescents with a disability in their transition to adulthood and transfer from childcare to adultcare (12–25 years). With these results information material was developed in co-creation with the youngsters and parents. All these tools, peer stories and information (in Dutch) can be viewed through an open source website www.netalsjij.nl, and provides tools for the care professionals to improve their care for youngsters with disabilities in transition to adulthood. In this article Max and Neeltje (two youngsters with spina bifida) share their experiences and give advice. [ABSTRACT FROM AUTHOR]

Introduction: Patient expectations and baseline health are important drivers of outcomes following major genitourinary reconstructive surgery for neurogenic bladder (NGB). Differences in expectations and quality of life (QoL) improvements among different populations with NGB remain insufficiently explored in the literature. Objective: To compare decisional regret (DR) and urinary‐related QoL (UrQoL) in patients undergoing urinary diversion for NGB arising from spinal cord injury of acquired (A‐SCI) and congenital (C‐SCI) etiologies. We hypothesize that patients with A‐SCI have higher expectations of improvement in QoL following surgery when compared with C‐SCI, which may lead to higher DR and decreased UrQoL, postoperatively. Design: In this cross‐sectional survey study, we compared A‐SCI to C‐SCI in terms of DR, UrQoL, and postoperative changes in self‐reported physical health, mental health, and pain using validated patient‐reported outcome measures. Setting: Participants were enrolled from a quaternary care institution via mail and MyChart. Participants: The A‐SCI group consisted of 17 patients with traumatic spinal cord injury; the C‐SCI group was composed of 20 patients with spina bifida. Interventions: Not applicable. Main Outcome Measures: The Decisional Regret Scale, Short form‐ Qualiveen (SF‐Qualiveen), and Patient‐reported outcomes measurement Information system‐10 (PROMIS‐10) Global Health surveys. Results: The A‐SCI group displayed poorer preoperative physical health than the C‐SCI cohort, but absolute postoperative changes in this score, along with mental health score and pain level, were not significant after adjusting for baseline scores and follow‐up time. SF‐Qualiveen scores revealed significantly worse impact of NGB in UrQoL for A‐SCI than for C‐SCI when adjusted for other factors. No differences in DR were seen between the groups. Conclusions: Patients with A‐SCI demonstrate lower self‐reported baseline physical health compared with patients with C‐SCI, which may have implications in setting patient expectations when undergoing urinary diversion. In this small cohort, we found a milder self‐reported postoperative impact of NGB in UrQoL in patients with C‐SCI. [ABSTRACT FROM AUTHOR]

The National Spina Bifida Patient Registry (NSBPR) assesses bladder and bowel incontinence using ordinal categories, but prior NSBPR analyses employed binary classification. Our aims were to 1) perform the first NSBPR analysis of bladder and bowel incontinence as ordinal outcomes to compare to the binary definition and subject variables; 2) explore the correlation of incontinence with undergarment usage, and 3) assess incontinence status following continence surgeries. Data from NSBPR participants' most recent clinic visit from 2013 to 2020 were analyzed. Ordinal categories of incontinence were compared to previously used binary definitions. Incontinence surgical outcomes were analyzed for those with data at least three months post-operatively. Chi-square tests evaluated associations among categorical variables. Univariate and ordinal logistic regression models were used to test associations of ordinal incontinence status with patient and condition factors. Statistical tests were 2-sided; p values < 0.05 were considered significant. Analysis of 7217 individuals using ordinal incontinence outcomes showed little difference from previously used binary outcomes. The final multivariable logistic regression models with ordinal multinomial outcomes showed that associations of incontinence with age, sex, race/ethnicity, health insurance, level of lesion, and continence management technique were similar to prior studies. Among those reporting never being incontinent of both bladder and bowel, 14% reported using protective undergarments. Of the 500 individuals who had bladder outlet surgery, 38% reported never being incontinent of urine. Of 1416 individuals who had appendicostomy (ACE) bowel surgery, 48% reported never being incontinent of stool. Our current analysis showed that ordinal continence outcome classification had similar continence findings as previous studies using the binary definition of continence. Expanding the binary definition of continence to include monthly episodes of incontinence did not greatly increase the proportion of continent individuals and, therefore, would have not likely made meaningful differences in continence outcomes in prior NSBPR analyses. However, it is known that even mild incontinence can affect quality of life, therefore, capturing any level of incontiennce is of clinical importance. Confirmation of the association of continence outcomes with sociodemographic, condition-related, and interventional factors with both approaches further validates previous analyses using the binary definition of continence. The previously used binary definition of bladder and bowel continence appears robust. Undergarment choice was a poor surrogate for reported incontinence. After bladder and bowel continence surgeries, 38% and 48%, respectively, reported never being incontinent. [ABSTRACT FROM AUTHOR]

Background: Myelomeningocele (MMC) is a congenital malformation affecting the central nervous system, categorized as a neural tube defect (NTDs). In untreated cases, the mortality rate within the first six months of life ranges from 35% to 70%. Globally, its incidence is estimated 0.8 to 1 per 1000 live births, and rates are higher in Asia and lower socioeconomic groups. This disease imposes a significant treatment cost and burden due to life-long disabilities. In less developed or developing countries, delays in diagnosis can lead to complications such as infection and rupture. Although rupture is a rare complication in MMC, there are limited studies that have reported it. This study aims to discuss the perioperative management and potential complications of ruptured MMC. Method: This study presents four cases of ruptured MMC that were referred from private hospitals and managed by Hasan Sadikin General Hospital in West Java, Indonesia. Each patiens underwent a clinical assessment and diagnostic evaluation upon arrival, followed by perioperative theraphy and management of any complications that emerged during treatment. Result: In three of the four cases, the children were over 24 h old when they were admitted to the hospital. Three cases were located in the lumbosacral region while one case was located in the thoracic region. Upon arrival, the clinical presentations we observed included microcephaly, small for gestational age (SGA) and congenital talipes equionavrus (CTEV). And we found several complications included wound dehisence, respiratiory failure, hydrocephalus, leg weakness, menigitis and sepsis after surgery. Conclusions: Perioperative management is highlighted as vital, necessitating a multidisciplinary approach and precise surgical techniques to mitigate severe complications. [ABSTRACT FROM AUTHOR]

Background: Caregivers are deeply concerned about children achieving independent walking, and evidence-based rehabilitation support is beneficial. However, current research is confined to a single study on spina bifida aperta, leaving a gap in understanding the timing of independent walking for lumbosacral lipomas. Objectives: This study aimed to examine the factors influencing independent walking in children with lumbosacral lipomas. Design: Retrospective cohort study. Methods: This retrospective cohort study included 124 children who underwent untethering surgery for lumbosacral lipomas. The age (in months) at which the children walked independently was used as the primary endpoint, and potential influencing factors, including the type of spinal lipoma, extent of lipoma removal, magnetic resonance imaging features, congenital anomaly complications, urinary/defecation management requirements, foot/toe symptoms, and orthotic device fabrications were analyzed. Results: Multiple logistic regression analysis showed that the most significant influencing factor for delayed independent walking was the presence of systemic combined anomalies (adjusted odds ratio = 15.5, P <.001), while non-systemic malformations, such as suburethral cleft, had limited effects. A subgroup analysis of 94 patients without systemic combined anomalies showed that the presence of a malformed conus medullaris was significantly associated with delayed independent walking (P =.014). The median age of independent walking in children with Morota's classification type 2 was 14 months, which is 1 month later compared to other types, although this difference was not significant (P =.055). Conclusion: Our findings suggest that complications arising from systemic combined anomalies and the presence of malformed conus medullaris are influencing factors in delays in independent walking in children with untethered lumbosacral lipomas. [ABSTRACT FROM AUTHOR]

Introduction: While it is well-established that follow-up care programs play a crucial role in preventing and early detecting secondary health conditions (SHCs) in persons with spinal cord injury [SCI, including spina bifida (SB)], the availability of evidence-based follow-up care programs remains limited. Under the leadership of the German-speaking Medical Society for Paraplegiology (DMGP), we have developed an evidence based clinical practice guideline for follow-up care of SHCs in persons with SCI and identify research gaps. Methods: This guideline was developed in accordance with the regulations of the Association of the Scientific Medical Societies in Germany (AWMF e.V.). To ensure an evidence-based guidance, we utilized the International Classification of Functioning, Disability and Health (ICF) generic core set and ICF Core Set for individuals with SCI in long-term context as our foundational framework. We conducted a comprehensive literature review to identify existing recommendations for follow-up care and graded the level of evidence according to relevant instruments. Subsequently, we formulated recommendations and achieved consensus through a structured nominal group process involving defined steps and neutral moderation, while adhering to the criteria outlined in the German guideline development instrument (DELBI). Results: Although there is a fair number of literatures describing prevalence and severity of SHCs after SCI, the amount of literature including recommendations was low (19 for SCI and 6 for SB). Based on the current evidence on prevalence and severity of SHCs and available recommendations, a clinical practice guideline on follow-up care of most relevant SHCs was defined. The recommendations for follow-up care are described in the following chapters: (1) Nervous system; (2) (Neuropathic) pain; (3) Cardiovascular diseases; (4) Respiratory System; (5) Immunological system, vaccination and allergies; (6) Gastrointestinal tract and function; (7) Endocrinological system and nutrition; (8) Urogenital system; (9) Contraception, pregnancy, birth and postpartum care; (10) Musculoskeletal system; (11) Pressure injuries; (12) Psychological health; (13) Medication and polypharmacy. Conclusion: We could successfully establish an evidence based clinical practice guideline for follow-up care of SHCs in individuals with SCI. There is however a notable lack of high-quality recommendations for SCI follow-up care. [ABSTRACT FROM AUTHOR]

Objectives: To report our experience with three cases of anterior lumbosacral meningocele with our multidisciplinary team plan and perioperative management and surgical approach for each case. Background: Anterior meningocele is a rare congenital form of spinal dysraphism that involves protrusion of the theca anteriorly into the retroperitoneal and presacral space through an anterior defect. Method: Three cases with anterior meningocele at different spinal levels (lumbar and sacral) were operated at Neurosurgery Department at Assiut University hospital from June to November 2020 with multidisciplinary management plans that were tailored separately for each case. Conclusion: Anterior meningocele is a rare form of spinal dysraphism and a challenging congenital anomaly that requires proper diagnosis and selection of surgical approach. Our case series outlines the importance of multidisciplinary team approach for tailoring perioperative management and surgical approach with intraoperative important steps. [ABSTRACT FROM AUTHOR]

Background: Children with spina bifida (SB) face an elevated risk of obesity, which necessitates precise methods for assessing body composition to ensure effective weight management. Conventional measures like BMI are inadequate for this population because of variations in growth patterns and skeletal structure. Bioelectrical impedance analysis (BIA) is a method that offers a clearer picture of body composition, yet its use in children with SB remains underexplored. Methods: Conducted on 57 children with SB and 28 healthy controls, with a median age of 11 years, this study evaluated anthropometrics, including BMI and BIA-derived metrics. The Hoffer's scale to assess physical activity was applied in SB children. Results: Results showed that while 32% of SB patients were classified as overweight or obese based on BMI, 62% exhibited high body fat percentage via BIA. Fat-free mass, muscle and fat mass, and fat-to-muscle ratio (FMR) differed significantly compared to the reference group. Non-ambulators showed a higher median body fat mass percentage (25.9% vs. 17.8%, p = 0.01) and FMR (0.92 vs. 0.44, p = 0.003) in comparison to the community walkers. Conclusions: In SB children, BIA-measured fat mass is a better obesity indicator than BMI. Non-ambulatory, SB patients with obesity had the highest FMR values, indicating a higher risk for metabolic syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Suture tensile properties have only been tested in extrauterine environments. Amniotic fluid (AF) is a complex milieu of enzymes and inflammatory factors. This study tested the mechanical properties of sutures with a variety of inherent properties, after exposure to AF from patients with conditions prompting fetal intervention. Methods: AF was obtained from 3 patients with twin-twin transfusion syndrome (TTTS), and 3 patients with neural tube defects. Six types of 2-0 sutures were placed on 1.2 N of tension to mimic placement in vivo, and incubated in AF at 37°C (98.6°F). These included ethylene terephthalate (Ethibond), glycomer 631 (V-Loc), poliglecaprone 25 (Monocryl), poly-4-hydroxybutyrate (Monomax), polydioxanone (PDS), and polyglactin 910 (Vicryl). Failure load, stress, strain, and initial modulus were tested after 24 h of incubation and after 4 weeks, and compared with control (unincubated) sutures using t tests, Kruskal-Wallis tests, and stress-strain curves. Results: Poliglecaprone 25 and polyglactin 910 dissolve more quickly in AF compared to outside the uterus, disintegrating at 4 weeks. Ethylene terephthalate and PDS experienced little change across 4 weeks of incubation. Glycomer 631 and poly-4-hydroxybutyrate exhibited interesting behavior in AF: glycomer 631 became more deformable at 24 h but later regained toughness by 4 weeks, while poly-4-hydroxybutyrate became tougher and in some cases stronger with time in AF. As a class, braided sutures act more like rigid materials, and monofilaments act like deformable plastics. Conclusion: These findings along with other suture characteristics such as ease of handling and availability may inform fetal intervention teams as they optimize procedures in a relatively new surgical field. [ABSTRACT FROM AUTHOR]

Background: Pediatric lumbar spondylolysis, a stress fracture of the lumbar spine, frequently affects young athletes, and nonoperative treatment is often the first choice of management. Because the union rate in lumbar spondylolysis is lower than that in general fatigue fractures, identifying risk factors for nonunion is essential for optimizing treatment. Purpose: To determine the risk factors for nonunion after nonoperative treatment of acute pediatric lumbar spondylolysis through multivariate analysis. Study Design: Case-control study; Level of evidence, 3. Methods: We analyzed 574 pediatric patients (mean age, 14.3 ± 1.9 years) with lumbar spondylolysis who underwent nonoperative treatment between 2015 and 2022. Nonoperative treatment included the elimination of sports activities, bracing, and weekly athletic rehabilitation, with follow-up computed tomography. Patient data, lesion characteristics, sports history, presence of spina bifida occulta at the lamina with a lesion or at the lumbosacral spine excluding the lesion level, and lumbosacral parameters were examined. Differences between the union and nonunion groups were investigated using multivariate analysis to determine the risk factors for nonunion. Results: Of the 574 patients, 81.7% achieved bone union. Multivariate analysis revealed that an L5 lesion and the progression of the main and contralateral lesion stages were significant independent risk factors for nonunion. An L5 lesion had a lower union rate than non-L5 lesions. As the main lesion progressed, the likelihood of nonunion increased significantly, and the progression of the contralateral lesion also showed a similar trend. Spina bifida occulta and lumbosacral parameters were not significant predictors of nonunion in this study. Conclusion: We identified the L5 lesion level and the progression of the main and contralateral lesion stages as independent risk factors for nonunion in pediatric lumbar spondylolysis after nonoperative treatment. These findings aid in treatment decision-making. When bone union cannot be expected with nonoperative treatment, symptomatic treatment is required without prolonged external fixation and rest, and without aiming for bone union. Individualized treatment plans are crucial based on identified risk factors. [ABSTRACT FROM AUTHOR]

This study aimed to investigate whether the maternal administration of minocycline, a tetracycline antibiotic known to have anti-inflammatory and neuroprotective properties in models of neural injury, reduces inflammation and neural cell death in a fetal rat model of myelomeningocele (MMC). E10 pregnant rats were gavaged with olive oil or olive oil + retinoic acid to induce fetal MMC. At E12, the dams were exposed to regular drinking water or water containing minocycline (range, 40-140 mg/kg/day). At E21, fetal lumbosacral spinal cords were isolated for immunohistochemistry and quantitative gene expression studies focused on microglia activity, inflammation, and apoptosis (P < 0.05). There was a trend toward decreased activated Iba1+ microglial cells within the dorsal spinal cord of MMC pups following minocycline exposure when compared to water (H 2 O) alone (P = 0.052). Prenatal minocycline exposure was correlated with significantly reduced expression of the proinflammatory cytokine, IL-6 (minocycline: 1.75 versus H 2 O: 3.52, P = 0.04) and apoptosis gene, Bax (minocycline: 0.71 versus H 2 O: 1.04, P < 0.001) among MMC pups. This study found evidence that the maternal administration of minocycline reduces selected markers of inflammation and apoptosis within the exposed dorsal spinal cords of fetal MMC rats. Further study of minocycline as a novel prenatal treatment strategy to mitigate spinal cord damage in MMC is warranted. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Early detection of occult spinal dysraphism, such as diastematomyelia with tethered cord, is vital to prevent neurological damage. Though rarely diagnosed in the neonatal period, cutaneous stigmata can aid early identification. Utilizing neonatal ultrasound enables timely management and multidisciplinary intervention. [ABSTRACT FROM AUTHOR]

Background: Spina bifida (SB) is a rare congenital disease characterized by not only physical but also neuropsychological disturbances. Among these neuropsychological impairments, memory deficits are a significant concern, as they substantially hinder aspects of crucial importance in the lives of individuals with SB such as medical needs or daily life activities. The main objective is to conduct a systematic review of the current evidence on the memory deficits in the SB population, including children, adolescents, and adults. Methods: Four databases (PubMed, SCOPUS, Web of Science, and ProQuest) were systematically screened for eligible studies. Results: The present review reveals cognitive difficulties in different memory types among individuals with SB. These deficits, identified in childhood, seem to persist into adulthood. Specifically, impairments are evident in short-term memory, working memory, and long-term memory. The neuropsychological instruments applied in the studies that were included in this systematic review vary, however, most reach the same conclusions. Conclusions: The present findings underscore the importance of incorporating cognitive assessments, particularly those focused on the memory domain, into routine childhood evaluations for individuals with SB. Early identification of these cognitive difficulties allows for the timely implementation of cognitive interventions that could leverage the inherent plasticity of the developing brain, and prevent or delay the onset of these deficits in later adulthood for people with SB, ultimately improving their functionality and quality of life. [ABSTRACT FROM AUTHOR]

Background/Objectives: Fetal spina bifida (fSB) is the most common neural tube defect, and intrauterine repair has become a valid treatment option for selected cases. If fSB repair is offered, the ideal time for surgery is from 24 to 26 gestational weeks (GWs). The preoperative steroids for lung maturation and preoperative tocolytics that are administered are known to increase the prevalence of gestational diabetes (GD), which normally occurs in about 10–15% of all pregnant women. This study assessed the prevalence, possible influencing factors, and consequences on the course of pregnancy regarding GD in this cohort. Methods: Between 2010 and 2022, 184 fSB cases were operated. Those patients operated on after 24 0/7 GWs received steroids before surgery. All the patients received tocolysis, and an oral glucose tolerance test was performed between 26 and 28 GWs at least 7 days after steroid administration. In 2020, we established an early postoperative mobilization protocol. The perioperative management procedures of those patients with and without GD were compared to each other, and also, the patients treated according to the early mobilization protocol were compared to the remaining cohort. Results: Nineteen percent were diagnosed with GD. Corticosteroids were administered in 92%. Neither the corticoid administration nor the interval between the administration and glucose tolerance test was different in patients with or without GD. Further, 99.5% received postoperative tocolytics for at least 48 h. The women with GD had significantly longer administration of tocolytics. The length of stay (LOS) was higher in those patients with GD. The gestational age (GA) at delivery was significantly lower in the cohort with GD. In the early mobilized group, we found a significantly higher GA at delivery (37.1 GWs vs. 36.2 GWs, p = 0.009) and shorter LOS (p < 0.001), and their GD rate was lower (10% vs. 20%), although not statistically significant. Conclusions: The GD incidence in the women after fSB repair was higher than in the usual pregnant population. Early mobilization, rapid tocolytics decrease, and shorter LOS could benefit the pregnancy course after fSB repair and may decrease the risk for GD in this already high-risk cohort without increasing the risk for preterm delivery. [ABSTRACT FROM AUTHOR]

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 5 years (interquartile range = 3 to 6 years). 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. [ABSTRACT FROM AUTHOR]

Individuals with myelomeningocele (MMC) present with neurological and orthopaedic deficiencies, requiring orthoses during walking. Orthoses for counteracting dorsiflexion may restrict activities such as rising from a chair. How are sit-to-stand (STS) movements performed with ankle joint-restricted ankle-foot orthoses (AFO) and knee-ankle-foot orthoses with a free-articulated knee joint (KAFO-F)? Twenty-eight adults with MMC, mean age 25.5 years (standard deviation: 3.5 years), were divided into an AnkleFree group (no orthosis or a foot orthosis) and an AnkleRestrict group (AFOs or KAFO-Fs). Study participants performed the five times STS test (5STS) while their movements were simultaneously captured with a three-dimensional motion system. Centre of mass (CoM) trajectories and joint kinematics were analysed using statistical parametric mapping. The AnkleRestrict group performed the STS slower than the AnkleFree group, median 8.8 s (min, max: 6.9, 14.61 s) vs 15.0 s (min, max: 7.5, 32.2 s) (p = 0.002), displayed reduced ankle dorsiflexion (mean difference: 6°, p = 0.044) (74–81 % of the STS cycle), reduced knee extension (mean difference: 14°, p = 0.002) (17–41 % of the STS cycle), larger anterior pelvic tilt angle (average difference: 11°, p = 0.024) (12–24 % of the STS cycle), and larger trunk flexion angle (on average 4°, p = 0.029) (6–15 % of the STS cycle). The differences between the AnkleFree and AnkleRestrict groups in performing the STS seem consistent with the participants functional ambulation: community ambulation in the AnkleFree group, and household and nonfunctional ambulation with less hip muscle strength in the majority of the AnkleRestrict group. No differences in the 5STS CoM trajectories or the kinematics were found with respect to the AFO and KAFO-Fs groups. Because orthoses are constructed to enable walking, the environment needs to be adjusted for activities in daily living such as the STS movement. • Orthoses for walking require restricted ankle dorsiflexion in individuals with MMC. • A blocked ankle hampers forward movement altering sit-to-stand (STS) movements. • The effort required to perform STS in everyday activities should be acknowledged. • The findings highlight the importance of adjusting the environment with external support. [ABSTRACT FROM AUTHOR]

Purpose of Review: This review explores the literature that currently exists regarding quality of life for patients with spina bifida and assesses screening tools available for practitioners to assess these outcomes. Domains addressed include health related quality of life, relationships, bowel and bladder dysfunction, sexuality, pain, and mood. Recent Findings: Several recent papers have assessed available questionnaires and reviewed findings of key quality of life domains, with varying results. Summary: Historically, the literature has focused on surgical outcomes for patients with spina bifida. Though some authors have begun to explore quality of life for this patient population, particularly in the short-term, a paucity of quality, long-term studies exist that describe quality of life domains or offer potential targets for improvements in outcomes. [ABSTRACT FROM AUTHOR]

Purpose of Review: To report on our experience in establishing a formal transition urology clinic in Victoria, Australia, and review current literature on transition urology processes, as well as identified challenges and future avenues for research and development in the field of transition and adolescent urology. Recent Findings: Paediatric to adult urology transition processes are increasingly reported and supported by the literature; however, to date, there is no consensus on a best model. In 2013, a formal urology transition clinic was established between The Royal Children's Hospital and The Royal Melbourne Hospital. Since then, 122 patients have been referred for transition, with the main reasons for referral being spina bifida (n=52), posterior urethral valve (n=11), and exstrophy (n=8). The transition rate success is 90.2%, and 27.3% of patients required reconstructive surgery. Summary: Transition urology is an emerging and important field of urology that requires dedicated multi-disciplinary teams and collaboration to ensure continued care of the congenital urology patient in a patient-driven manner with goals focused on integration and independence. Our local experience results are comparable to global reports and further evidence of the importance of this process. [ABSTRACT FROM AUTHOR]

We present the Open Spina Bifida Aperta (OSBA) atlas, an open atlas and set of neuroimaging templates for spina bifida aperta (SBA). Traditional brain atlases may not adequately capture anatomical variations present in pediatric or disease-specific cohorts. The OSBA atlas fills this gap by representing the computationally averaged anatomy of the neonatal brain with SBA after fetal surgical repair. The OSBA atlas was constructed using structural T2-weighted and diffusion tensor MRIs of 28 newborns with SBA who underwent prenatal surgical correction. The corrected gestational age at MRI was 38.1 ± 1.1 weeks (mean ± SD). The OSBA atlas consists of T2-weighted and fractional anisotropy templates, along with nine tissue prior maps and region of interest (ROI) delineations. The OSBA atlas offers a standardized reference space for spatial normalization and anatomical ROI definition. Our image segmentation and cortical ribbon definition are based on a human-in-the-loop approach, which includes manual segmentation. The precise alignment of the ROIs was achieved by a combination of manual image alignment and automated, non-linear image registration. From the clinical and neuroimaging perspective, the OSBA atlas enables more accurate spatial standardization and ROI-based analyses and supports advanced analyses such as diffusion tractography and connectomic studies in newborns affected by this condition. [ABSTRACT FROM AUTHOR]

INTRODUCTION. 1.5 thousand children with myelodysplasia (MD) are born in Russia every year. To improve the quality of life, most of them need lifelong medical supervision and rehabilitation. The topic of medical rehabilitation in MD in children is poorly covered. AIM. To search and analysis published data on the rehabilitation of children with MD identify the most effective methods. MATERIALS AND METHODS. The collection and analysis of publications on this topic from the PubMed and eLibrary databases published from 2014 to 2024 was carried out. Earlier fundamental works on secondary disorders in myelodysplasia and Spina bifida were also included in the review. A total of 512 publications in PubMed and 1096 publications in eLibrary were analyzed, 584 of them were unique. Publications of reviews, systematic reviews and clinical observations were included. RESULTS AND DISCUSSION. Rehabilitation for MD in children is multidisciplinary in nature, a violation of the structure of the nervous system entails, already in utero, the formation of deformities of the musculoskeletal system, combined changes in the functioning of the lower urinary tract and intestines. It is known that rehabilitation started from an early age helps to master motor skills in a timely manner, contributes to the prevention of metabolic syndrome, contractures, pressure sores, urodynamic disorders and constipation. There are different approaches regarding the intensity of physical activity during the day and week, following the recommendations of the World Health Organization (WHO), children should exercise for more than 60 minutes a day. Physical exercises should be carried out from the perspective of the concept of neuroplasticity and enhanced by the influence of magnetic stimulation, low-intensity laser, electromyostimulation, vibration therapy. It will be possible to effectively use acupuncture and massage. In addition, it is important to include urological and orthopedic care in medical rehabilitation from an early age. CONCLUSION. Due to the high disability, there is a question of effective methods for improving rehabilitation potential and improving the standard of living. Among the described methods, physiotherapy is distinguished, including therapeutic exercises, magnetic stimulation, low-intensity laser therapy, electromyostimulation, and ergotherapy. It is necessary to continue to study the effectiveness of the use of various physical factors in children with MD.

OBJECTIVE: To identify the genetic markers of spina bifida through a systematic survey of the exome in an Indian cohort. MATERIALS AND METHODS: Three consecutive patients (P1: 1 year, male; P2: 2.8 years, male; and P3: 10 years, female) with spina bifida (lumbosacral meningomyelocele) underwent whole-exome sequencing (libraries: SureSelect Human All Exon V8; sequencing: 2 * 150 bp paired-end run, 100×) with NovaSeq 6000. Data analysis was performed using SMART-One™ (secondary analysis) and SMARTer™ (tertiary analysis) for automated quality check, alignment (GRCh38/hg38), variant calling, annotation (ClinVar, OMIM, avsnp150, 1000 Genomes v5b, ExAC v0.3, gnomAD v4.0, and esp6500vi2all v0.0.25), v0.0.25), interpretation. The pathogenic and likely pathogenic (ClinVar/ InterVar), non-synonymous, exonic markers (read depth ≥ 5) were matched with the Familial Neural Tube Defects (Version 1.10) panel (FNTD panel). Results: Pathogenic variants overlapping with the FNTD panel were MTRR, CC2D2A, and ZIC2 in P1 and P2, TGIF1 in P1 only, and none in P3. Novel pathogenic/likely pathogenic variants common to all three patients were PRUNE1, PKD1, PDZD2, and DAB2 in the homozygous state as well as in the heterozygous state, PLK1 and NLGN2. The possible role of such markers in etiopathogenesis was explored through a literatur search. Conclusions: The genetic landscape of the spina bifida in an Indian cohort is diverse compared to that reported from other parts of the world. A comprehensive catalog of single-nucleotide variants in the etiopathogenesis of the spina bifida on a background of the Familial Neural Tube Defects Panel has been generated.

Introduction: Neural Tube Defects (NTDs) are one of the common congenital anomalies leading to miscarriages and serious disabilities in newborns. NTDs are the second most common type of birth defects. Even though the aetiology of NTDs is multifactorial, Folic Acid (FA) deficiency is the most common cause. There are limited Indian studies on awareness of FA usage in the general public. Aim: To assess the awareness and usage of FA to prevent NTDs in young ladies of Mangaluru, Dakshina Kannada (DK) district, Karnataka, India. Materials and Methods: It was a community-based cross-sectional study conducted at Father Muller Medical College in Dakshina Kannada district, Mangaluru, Dakshina Kannada (DK) district, Karnataka, India from August 2023 to October 2023. A total of 300 young Indian females aged 18-35 years, residing in the study district, were randomly chosen as participants. Data were collected by an interviewer using a semistructured questionnaire with two components. Part 1 focused on socio-demographic details, while Part 2 gathered information on the awareness of FA supplements, dietary sources of FA, the best time, and dosage of FA supplements to prevent NTDs. Descriptive analysis of the data was done. Results: The study included 90 married and 210 unmarried females. The average age of the participants was 23.7±5.7 years. The study results observed that only 103 (34%) of the participants had heard about FA supplements. A total of 240 (80%) of them said they were not aware of the preferred time for FA. Only 9 (3%) females could mention the correct dose of FA. Conclusion: The study results indicate a gross lack of awareness about FA supplements to prevent NTDs in the general population of the region.

Objective. To present a literature review assessing the effectiveness of surgical treatment methods for tethered spinal cord syndrome of secondary origin in spina bifida. Material and Methods. The Pubmed, EMBASE, eLibrary, and Cochrane Library databases were searched for prospective cohort clinical studies published from 2009 to 2024 and evaluating the effectiveness of methods for correcting tethered spinal cord syndrome in spina bifida. The study was carried out in accordance with the guidelines for Preferred Reporting Items for writing Systematic Reviews and Meta-Analyses (PRISMA). Results. During this period, 20 articles were published assessing the effectiveness of surgical methods for correcting tethered spinal cord syndrome. Of these, 15 are pragmatic clinical trials and 5 are randomized clinical trials. The average level of evidence is III. Conclusion. Currently, it can be stated that there is an intra-expert consensus regarding functional radiological criteria for tethered spinal cord syndrome of secondary origin in spina bifida. However, the issue of the effectiveness of surgical intervention directly depends on the availability of objective methods for clinical assessment of the severity of functional deficit and the reversibility of morphofunctional changes in the nervous tissue. Despite the variety of clinical scales and questionnaires, there is no unified assessment system for neurological, urological and orthopedic deficits in patients with tethered spinal cord syndrome. In this context, functional MRI (spinal MR tractography) can be considered a promising method for objectifying the pathological process. However, the phenomena revealed during the examination are not fully studied and require further research.

Purpose 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. Methods 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. Results 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

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

This paper describes the development and characteristics of a multi-disciplinary spina bifida clinic in Qatar considering the recently revised and globally available Guidelines for the Care of People with Spina Bifida (GCPSB).A retrospective chart review was performed on individuals in Sidra’s multidisciplinary spina bifida clinic database from January 2019 to June 2020. Their electronic health records were reviewed for demographics, as well as neurosurgical, urologic, rehabilitation, and orthopedic interventions.There were 127 patients in the database; 117 met inclusion criteria for diagnoses of myelomeningocele, meningocele, sacral agenesis/caudal regression, and/or spinal lipoma. Generally, Qatar is following GCPSB recommendations for multidisciplinary care. Consanguineous relationships, difficulties with access to urological and rehabilitation supplies and equipment, school access, and variable timing of neurosurgical closure were areas that demonstrated differences from GCPSB recommendations due to barriers in implementation.The GCPSB recommendations are applicable in an international setting such as Qatar. Despite a few barriers in implementing some of the recommendations, this new multi-disciplinary spina bifida clinic demonstrates alignment with many of the GCPSB guidelines. [ABSTRACT FROM AUTHOR]