Spina Bifida Research Articles

Fetal surgery for spina bifida – An upcoming standard of care

Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations that have been historically treated with a repair after birth. However, this “repair” does not avert neurological injury, reverse hindbrain herniation, or prevent hydrocephalus. With the intention to reduce numerous medical procedures, lifelong morbidities, and medical complications, fetal surgery was proposed about a quarter century ago. Fetal surgery has become the standard of care for MMC, especially after the advent of the Management of Myelomeningocele Study (MOMS) trial. Dr. Michael Harrison from the University of California was the first to birth this idea in the 1980s. While earlier research was carried out on ovine models, it was deduced that intrauterine repair reduces the secondary damage to exposed neural tissue and improves post-natal neurological outcomes. After the promising results in animal models and some clinical series, it paved the way for a prospective multicenter randomized controlled trial that compared prenatal versus postnatal MMC repair, with the aim to prove its efficacy and safety with Level-1 evidence- the MOMS. However, it was stopped early due to the improved prenatal repair outcomes, thus establishing open fetal MMC repair as the standard of care. We aim to discuss the origin story of this remarkable procedure, its rationales and advantages for the unborn child and mother and its short-term and long-term superiority and limitations. The operative procedure and the criteria with other essential aids in its diagnosis have also been discussed briefly. We also intend to eliminate the apprehension faced toward this procedure by the supporting team of obstetricians, anesthetists, neonatologists, and radiologists essential to making this procedure a success.

Prevalence of Coccydynia among Wheelchair Users Due to Prolong Sitting

Background: Coccydynia, characterized by pain in or around the coccyx, is a condition that is particularly prevalent among wheelchair users due to prolonged sitting. Previous studies have highlighted various factors contributing to coccydynia, including extended sitting on hard surfaces, obesity, and gender-specific susceptibility. Objective: The primary objective of this study was to determine the prevalence of coccydynia among wheelchair users, with a focus on identifying key risk factors such as prolonged sitting, gender, and sitting surface hardness. Methods: This cross-sectional study utilized convenience sampling to gather data from 250 wheelchair users across private/government special education institutes, hospitals, rehabilitation centers, and homes in the South Punjab region. Participants aged 15-60 years using a wheelchair for more than one year were included, excluding those with spinal cord injuries, spina bifida, coccyx fractures, sensory loss, psychological issues, or postpartum women. Data was collected via a self-structured questionnaire, Numeric Pain Rating Scale (NPRS), and Visual Analog Scale (VAS). Statistical analysis was conducted using SPSS version 25, focusing on frequencies, percentages, cross-tabulation, and Chi-square tests. Results: The study found that 72.4% of participants experienced tailbone tenderness, with a significant association between longer wheelchair usage hours and increased tenderness (P < 0.001). A majority of participants (76%) reported tailbone pain, with 72.4% experiencing tenderness. The prevalence of coccydynia was higher in females, and most participants did not use a cushion despite the prolonged sitting. The pain was predominantly described as an ache/dull sensation (89.6%), and it worsened after prolonged sitting in 90.8% of cases. Conclusion: Coccydynia is a prevalent condition among wheelchair users, influenced by prolonged sitting, gender, and the hardness of the sitting surface. The study emphasizes the need for educational interventions, ergonomic wheelchair designs, and the usage of specialized cushions to mitigate the risk and alleviate symptoms.

Absence of hernia sack in patients undergoing prenatal repair of spina bifida increases the risk of developing shunt-dependent hydrocephalus

Absence of hernia sack in patients undergoing prenatal repair of spina bifida increases the risk of developing shunt-dependent hydrocephalus

Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome

Children and adolescents with neurogenic bladder often need clean intermittent catheterization (CIC) over a long period. Our study aimed to identify factors that affect CIC compliance and to determine if CIC compliance affected short-term urological outcomes among patients in Malaysia. 50 patients aged 2-18 years who perform CIC were included in this cohort study. Patient compliance with CIC was evaluated using the validated Intermittent Catheterization Adherence Scale (ICAS). CIC difficulties were assessed using the validated Intermittent Catheterization Difficulty Questionnaire (ICDQ). Data was obtained on patients' co-morbidity, caregiver factors, socio-economic factors, CIC technique, access to catheters and facilities, urinary tract infections, incontinence, urology tests and treatment. Statistical analysis was performed. Mean age was 6.68±4.34 years. 32 (64%) patients commenced CIC within the first month of life. Mean daily CIC frequency was 4.70±1.33.30 (60%) participants showed strong adherence to CIC. 39 (78%) participants were able to catheterize with no or minor difficulties. Pain (6, 12%), transient blocking sensation (6.12%), and urinary incontinence (3, 6%) were the predominant difficulties encountered. CIC performed by caregiver was associated with improved adherence compared to patient self-catheterization (p=0.039). The mean age of participants who self-catheterized was 10.7±3.7 years. Strong adherence was also observed among patients who purchased their own CIC catheters (p=0.007). Participants with lower ICDQ score were more likely to be compliant with CIC (p=0.007). CIC adherence was not affected by patient's age, gender, co-morbidity, mobility, caregiver factors, socio-economic factors, and age at initiation of CIC. There was no significant association between CIC adherence and febrile urinary tract infections, upper tract deterioration, and bladder stones at 6 months follow-up. There is lower CIC adherence when a child begins to self-catheterize and healthcare providers should be alert during this period of transition. Though most patients with spina bifida have decreased urethral sensation, some patients do experience significant pain during CIC which may impact their compliance. These patients would need a review of their catheterization techniques to improve adherence. The limitations of our study are its modest sample size from a single center and short study period. Our study provides insights into the feasibility of instituting CIC in developing countries. Strong CIC adherence was observed among patients who were catheterized by their caregiver, purchased their own CIC catheters, and encountered minimal difficulties during catheterization. CIC adherence had no effect on short-term urological outcomes.

Comparing binary & ordinal definitions of urinary & stool continence outcomes: Data from the National Spina Bifida Patient Registry

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.

Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene (CNOT1). However, the pathophysiologic mechanism of the Vissers-Bodmer Syndrome remains unclear. Notably, this syndrome has not been previously reported in the Chinese. In this study, we utilized whole exome sequencing to identify three novel variants in the CNOT1 gene, encompassing one frameshift variant and two missense variants, in three Chinese patients mainly presenting with developmental delay, intellectual disability and/or autism. Interestingly, three patients exhibited novel manifestations including spina bifida occulta, horse-shoe kidney and café-au-lait spot. The frameshift variant, p.Gly172Alafs*5, occurring de novo, leading to a premature stop codon in the protein, was classified into pathogenic. Two missense variants c.3451A > G (p.Asn1151Asp) and c.557C > T (p.Ser186Phe) were predicted to be deleterious by multiple prediction algorithms with high conservation among a variety of species. Additionally, three-dimensional structure modeling and predicting indicated the substitution of the mutated amino acids would decrease the stability of CNOT1 protein. Given that CNOT1 is a relatively novel disease gene, we evaluated the gene-disease validity following ClinGen Standard Operating Procedure. The existing evidence substantiates a “Definitive” level of gene-disease relationship. The genetic findings provide a reliable basis for the genetic counseling of the family reproduction. Moreover, our results expand the genetic and phenotypic spectrum of CNOT1-related Vissers-Bodmer Syndrome.

Accurate diagnosis and treatment of sacral meningeal cysts without spinal nerve root fibres: identifying leakage orificium using high-resolution spherical arbitrary-dimensional reconstructing magnetic resonance imaging.

This study aimed to develop an arbitrary-dimensional nerve root reconstruction magnetic resonance imaging (ANRR-MRI) technique for identifying the leakage orificium of sacral meningeal cysts (SMCs) without spinal nerve root fibres (SNRFs). This prospective study enrolled 40 consecutive patients with SMCs without SNRFs between March 2021 and March 2022. Magnetic resonance neural reconstruction sequences were performed for preoperative evaluation. The cyst and the cyst-dura intersection planes were initially identified based on the original thin-slice axial T2-weighted images. Sagittal and coronal images were then reconstructed by setting each intersecting plane as the centre. Then, three-dimensional reconstruction was performed, focusing on the suspected leakage point of the cyst. Based on the identified leakage location and size of the SMC, individual surgical plans were formulated. This cohort included 30 females and 10 males, with an average age of 42.6 ± 12.2 years (range, 17-66 years). The leakage orificium was located at the rostral pole of the cyst in 23 patients, at the body region of the cyst in 12 patients, and at the caudal pole in 5 patients. The maximum diameter of the cysts ranged from 2 cm to 11 cm (average, 5.2 ± 1.9 cm). The leakage orificium was clearly identified in all patients and was ligated microscopically through a 4 cm minimally invasive incision. Postoperative imaging showed that the cysts had disappeared. ANRR-MRI is an accurate and efficient approach for identifying leakage orificium, facilitating the precise diagnosis and surgical treatment of SMCs without SNRFs.

Spina Bifida Prevention: A Narrative Review of Folic Acid Supplements for Childbearing Age Women.

Neural tube defects (NTDs) are malformations that occur during embryonic development, and they account for most central nervous system birth anomalies. Genetic and environmental factors have been shown to play a role in the etiology of NTDs. The different types of NTDs are classified according to anatomic location and severity of the defect, with most of the neural axis anomalies occurring in the caudal spinal or cranial areas. Spina bifida is a type of NTD that is characterized by an opening in the vertebral arch, and the level of severity is determined by the extent to which the neural tissue protrudes through the opened arch(es). Prevention of NTDs by administration of folic acid has been studied and described in the literature, yet there are approximately 300,000 cases of NTDs that occur annually, with 88,000 deaths occurring per year worldwide. A daily intake of at least 400 μg of folic acid is recommended especially for women of childbearing age. To provide the benefits of folic acid, prenatal vitamins are recommended in pregnancy, and many countries have been fortifying foods such as cereal grain products with folic acid; however, not all countries have instituted folic acid fortification programs. The present investigation includes a description of the pharmacology of folic acid, neural tube formation, defects such as spina bifida, and the relevance of folic acid to developing spina bifida. Women's knowledge and awareness of folic acid regarding its importance in the prevention of spina bifida is a major factor in reducing incidence worldwide.

A renal aplasia case mimicking radiologically as unilateral renal agenesis in a child with spina bifida, atresia ani and unilateral undescended testis: a case report

BackgroundAs a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis.Case presentationA 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining. Computerized Tomography (CT) scan of the abdomen and urography showed agenesis of the left kidney and a probable spina bifida. Cystourethrography examination was done and showed grade 5 voiding, then retrograde pyelography was performed with the diagnosis of unilateral renal agenesis was made because there was no visible left side collecting system even though there was a duplication in the left ureter. The next examination was carried out by histopathology and immunohistochemistry after resection of the left side of the ureter and the diagnosis increasingly pointed towards renal aplasia after primitive renal structures were found.ConclusionsRenal agenesis and aplastic kidney are difficult to differentiate macroscopically and radiologically. Nevertheless, from this case report, we try to provide some interesting points to differentiate cases of unilateral renal agenesis from Renal Dysplasia which presents as unilateral renal aplasia.

Classification of and individual treatment strategies for complex tethered cord syndrome.

To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging findings, and therapeutic schedule. The clinical data of 126 patients with C-TCS admitted to our department from January 2015 to December 2020 were retrospectively analyzed. Classification criteria for C-TCS were established by analyzing the causes of C-TCS. Different surgical strategies were adopted for different types of C-TCS. The Kirollos grading, visual analogue scale (VAS), critical muscle strength, and Japanese Orthopaedic Association (JOA) scores were used to evaluate the surgical outcomes and explore individualized diagnosis and treatment strategies for C-TCS. C-TCS was usually attributable to three or more types of tether-causing factors. The disease mechanisms could be categorized as pathological thickening and lipomatosis of the filum terminal (filum terminal type), arachnoid adhesion (arachnoid type), spina bifida with lipomyelomeningocele/meningocele (cele type), spinal lipoma (lipoma type), spinal deformity (bone type), and diastomyelia malformation (diastomyelia type). Patients with different subtypes showed complex and varied symptoms and required individualized treatment strategies. Since C-TCS is attributable to different tether-related factors, C-TCS classification can guide individualized surgical treatment strategies to ensure complete release of the tethered cord and reduce surgical complications.

Global Neurosurgery at the 76th World Health Assembly (2023): First Neurosurgery-Driven Resolution Calls for Micronutrient Fortification to Prevent Spina Bifida

Since 2018, a neurosurgery delegation has been actively engaged and consistently present at the World Health Assembly. Recognizing the growing impact of neurosurgical diseases, the neurosurgery delegation participated in the 76th World Health Assembly in May 2023, advocating for timely, safe, and affordable global neurosurgical care. The delegation focused on forging new collaborations, strengthening the World Health Organization-World Federation of Neurosurgical Societies official relations, and actively supporting resolutions that impact the neurosurgical patient. However, there is a long advocacy journey ahead to address unmet neurosurgical needs. Patient-centered advocacy is an inherent task of our profession and the essence of the Global Neurosurgery Bogota Declaration of 2016. The highlight of the 76th World Health Assembly was the adoption of the first neurosurgery-driven resolution calling for micronutrient fortification to prevent spina bifida and other micronutrient deficiencies. For the last four years, the Global Alliance for Prevention of Spina Bifida, a group spearheaded by neurosurgeons, advocated for spina bifida prevention. This Alliance collaborated with many stakeholders, notably, the Colombian government to promote the resolution: “Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification.” This is a proud milestone for the neurosurgical profession. There are many strategies available for neurosurgeons, when working together with elected leaders, other stakeholders, and allied professionals, to implement initiatives that can prevent future cases of spina bifida and other neurological disorders and reduce the burden of neurosurgical disease.

Ambulation after in-utero fetoscopic and open spina bifida repair: predictors for ambulation at 30 months.

Ambulatory outcomes from children who underwent a new minimally invasive fetal spina bifida surgery approach are included in this study for the first time. Identifying cases with better chances of independent ambulation from fetal life can have an important impact on patient counseling. The objectives of this study were: (1) To compare the ambulatory status of a cohort of children who had a prenatal spina bifida repair using two different methods (fetoscopic and open) with a cohort who underwent postnatal repair; and (2) to identify the best predictors for ambulation. Retrospective review of a cohort of children who had spina bifida repair from 2011-2023 using prenatal fetoscopic surgery (N=73), prenatal open-hysterotomy surgery (N=37) or postnatal repair (N=51) in a single tertiary hospital. Consecutive sample of cases who underwent a spina bifida repair in utero following MoMs trial criteria and cases who underwent postnatal repair, meeting same criteria, also followed up after birth at the same institution. Motor function (MF) assessment by ultrasound was recorded at initial evaluation (MF1), 6 postoperative weeks or equivalent (MF2) and prior to delivery (MF3). Clinical exams to assess MF at birth and at 12 months were recorded. First sacral myotome (S1) MF was classified as "intact MF". Ambulatory status data at each follow-up visit was collected. The proportion of cases who were able to walk independently were compared between fetoscopic and open prenatal surgeries and between prenatal (by fetoscopic or open surgery) and postnatal spina bifida repair. Logistic regression analyses were performed to identify predictors for independent ambulation. At 30 months, the proportion of independent ambulators was higher in prenatally vs. postnatally repaired cases (51.8% vs.15.7%; p<0.01). No differences in ambulatory outcomes were seen in the comparison between fetoscopic (52%) vs. open (51.3%; p=0.95) prenatal repair. In the prenatal repair group, having an "intact MF" at 12 months [Odds ratio 7.71 (95%CI: 2.77-21.47), p<0.01] and at birth [4.38 (1.53-12.56), p<0.01], predicted significantly being an independent ambulator by 30 months; the anatomical level of lesion below L2 was also predictive for this outcome [3.68(1.33-9.88), p=0.01]. Ambulatory status by 30 months can be predicted by observing S1 MF postnatally. Results from this study have implications for parental counseling and planning for supportive therapies. This article is protected by copyright. All rights reserved.

Location Matters: The Role of the Neighborhood Environment for Incident Cardiometabolic Disease in Adults Aging With Physical Disability.

People aging with disability may be limited in their ability to engage in healthy behaviors to maintain cardiometabolic health. We investigated the role of health promoting features in the neighborhood environment for incident cardiometabolic disease in adults aging with physical disability in the United States. Retrospective cohort study. Optum's Clinformatics® Data Mart Database (2007-2018) of administrative health claims. ICD-9-CM codes were used to identify 15467 individuals with a diagnosis of Cerebral Palsy, Spina Bifida, Multiple Sclerosis, or Spinal Cord Injury. Cardiometabolic disease was identified using ICD-9-CM/ICD-10-CM codes over 3 years of follow-up. Measures of the neighborhood environment came from the National Neighborhood Data Archive and linked to individual residential ZIP codes over time. Covariates included age, sex, and comorbid health conditions. Cox regression models estimated hazard ratios (HR) for incident cardiometabolic disease. Using a 1-year lookback period, individuals with pre-existing cardiometabolic disease were excluded from the analysis. Net of individual risk factors, residing in neighborhoods with a greater density of broadband Internet connections (HR = .88, 95% CI: .81, .97), public transit stops (HR = .89, 95% CI: .83, .95), recreational establishments (HR = .89, 95% CI: .83, .96), and parks (HR = .88, 95% CI: .82, .94), was associated with reduced risk of 3-year incident cardiometabolic disease. Findings identify health-promoting resources that may mitigate health disparities in adults aging with disability.

High-fidelity, low-cost synthetic training model for fetoscopic spina bifida repair

Fetoscopic spina bifida repair is increasingly being practiced, but limited skill acquisition poses a barrier to widespread adoption. Extensive training in relevant models, including both ex vivo and in vivo models may help. To address this, a synthetic training model that is affordable, realistic, and that allows skill analysis would be useful. This study aimed to create a high-fidelity model for training in the essential neurosurgical steps of fetoscopic spina bifida repair using synthetic materials. In addition, we aimed to obtain a cheap and easily reproducible model. We developed a 3-layered, silicon-based model that resemble the anatomic layers of a typical myelomeningocele lesion. It allows for filling of the cyst with fluid and conducting a water tightness test after repair. A compliant silicon ball mimics the uterine cavity and is fixed to a solid 3-dimensional printed base. The fetal back with the lesion (single-use) is placed inside the uterine ball, which is reusable and repairable to allow for practicing port insertion and fixation multiple times. Following cannula insertion, the uterus is insufflated and a clinical fetoscopic or robotic or prototype instruments can be used. Three skilled endoscopic surgeons each did 6 simulated fetoscopic repairs using the surgical steps of an open repair. The primary outcome was surgical success, which was determined by water tightness of the repair, operation time <180 minutes and an Objective Structured Assessment of Technical Skills score of ≥18 of 25. Skill retention was measured using a competence cumulative sum analysis of a composite binary outcome of surgical success. Secondary outcomes were cost and fabrication time of the model. We made a model that can be used to simulate the neurosurgical steps of spina bifida repair, including anatomic details, port insertion, placode release and descent, undermining of skin and muscular layer, and endoscopic suturing. The model was made using reusable 3-dimensional printed molds and easily accessible materials. The 1-time startup cost was €211, and each single-use, simulated myelomeningocele lesion cost €9.5 in materials and 50 minutes of working time. Two skilled endoscopic surgeons performed 6 simulated, 3-port fetoscopic repairs, whereas a third used a Da Vinci surgical robot. Operation times decreased by more than 30% from the first to the last trial. Six experiments per surgeon did not show an obvious Objective Structured Assessment of Technical Skills score improvement. Competence cumulative sum analysis confirmed competency for each surgeon. This high-fidelity, low-cost spina bifida model allows simulated dissection and closure of a myelomeningocele lesion. VIDEO ABSTRACT.

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

BackgroundNeural tube defects (NTDs) are caused by genetic and environmental factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of RNA polymerase II (Pol II).ResultsWe find that ARMC5 knockout mice have increased incidence of NTDs, such as spina bifida and exencephaly. Surprisingly, the absence of ARMC5 causes the accumulation of not only POLR2A but also most of the other 11 Pol II subunits, indicating that the degradation of the whole Pol II complex is compromised. The enlarged Pol II pool does not lead to generalized Pol II stalling or a generalized decrease in mRNA transcription. In neural progenitor cells, ARMC5 knockout only dysregulates 106 genes, some of which are known to be involved in neural tube development. FOLH1, critical in folate uptake and hence neural tube development, is downregulated in the knockout intestine. We also identify nine deleterious mutations in the ARMC5 gene in 511 patients with myelomeningocele, a severe form of spina bifida. These mutations impair the interaction between ARMC5 and Pol II and reduce Pol II ubiquitination.ConclusionsMutations in ARMC5 increase the risk of NTDs in mice and humans. ARMC5 is part of an E3 controlling the degradation of all 12 subunits of Pol II under physiological conditions. The Pol II pool size might have effects on NTD pathogenesis, and some of the effects might be via the downregulation of FOLH1. Additional mechanistic work is needed to establish the causal effect of the findings on NTD pathogenesis.

Growth of condition-related knowledge among youth with spina bifida: associations with neurocognitive functioning and self-management skills.

This study aims to characterize the growth in condition-related knowledge in youth with spina bifida (SB), identify neurocognitive predictors of growth, and examine associations between growth in knowledge and subsequent levels of medical self-management skills. Participants were recruited from a larger longitudinal study involving 140 youth with SB and caregivers, who completed questionnaires and interviews every 2 years over 8 years. The current study included the youth report of condition-related knowledge and medical self-management skills. Youth attention and executive functioning were assessed via parent and teacher reports and performance-based assessment. Latent growth curves were conducted in Mplus Version 8 (Múthen, L. K., & Múthen, B. O. [1998]. Mplus User's Guide. [Eighth]. Muthén & Muthén) to examine change over time in youth-reported condition-related knowledge. Neurocognitive variables were included as predictors of growth in knowledge and regression analyses were used to predict medical self-management skills from growth in condition-related knowledge. Youth condition-related knowledge increased linearly. Better youth performance on working memory and attention performance-based tasks predicted a higher intercept for condition-related knowledge at T1, but not slope. Teacher and parent reports of inattention and executive dysfunction were not consistent predictors of intercept and growth. Slope of condition-related knowledge was not predictive of subsequent youth self-management skills. Youth with SB gain condition-related knowledge over time. However, executive dysfunction and inattention may impede gains in condition-related knowledge. Thus, executive functioning supports, attention-related interventions, and psychoeducation may support condition-related knowledge gains and later medical self-management skills, but further research assessing family and cultural factors is needed.

Characteristics of lumbar spondylolysis: L5 versus non-L5

BackgroundFifth lumbar vertebra (L5) spondylolysis has a lower bone union rate than non-L5 spondylolysis, but the reason for this is unknown. This study aimed to evaluate the differences in patient and lesion characteristics between L5 and non-L5 spondylolysis.MethodsA total of 410 patients with lumbar spondylolysis aged 18 years or younger who were treated conservatively were enrolled. Patients and lesions were divided into L5 and non-L5 (L2–L4) spondylolysis. Factors, including sex, age, presence of spina bifida occulta, stage of the main side lesion, whether the lesion was unilateral or bilateral, presence and stage of the contralateral side lesion and treatment duration, were evaluated at the first visit and compared between the two groups.ResultsA total of 250 patients with 349 lesions were included. The bone union rate of L5 lesions was lower than that of non-L5 lesions (75% vs. 86%, p = 0.015). Patients with L5 spondylolysis were more likely to be male (86% vs. 66%) and younger (14.0 vs. 14.6 years) than patients with non-L5 spondylolysis. Lesions of L5 spondylolysis were more likely to be in a progressive stage (28% vs. 15%), less likely to be in a pre-lysis stage (28% vs. 43%) and more likely to be in a contralateral terminal stage (14% vs. 5.3%, p = 0.013) compared with lesions of non-L5 spondylolysis.ConclusionsL5 spondylolysis was characterised by a lower bone union rate, more males, younger age, more progressive stage and more contralateral pseudarthrosis than non-L5 spondylolysis.

Fetal cardiovascular changes during open and fetoscopic in-utero spina bifida closure.

Laparotomy-assisted fetoscopic closure of spina bifida utilizing heated-humidified carbon dioxide gas has been associated with less maternal morbidity than open in-utero spina bifida closure. Fetal cardiovascular changes during these surgical interventions are not well defined. Our objective was to compare fetal bradycardia (defined as fetal heart rate (FHR)<110 bpm over 10 minutes) and changes in umbilical artery Doppler parameters throughout open in-utero closure with those observed during laparotomy-assisted fetoscopic closure. We conducted a prospective cohort study of 22 open and 46 fetoscopic consecutive in-utero closures between 2019 and 2023. Both cohorts had similar preoperative counseling and clinical management. FHR and umbilical artery velocimetry were systematically obtained during preoperative assessment, every 5 minutes during the intraoperative period, and in the postoperative assessment. FHR, pulsatility indexes and end-diastolic flows were segmented into hourly periods during surgery, and the lowest values were averaged for analysis. Umbilical vein maximum velocities were measured in the fetoscopic cohort. Each fetal heart rate recording time point was correlated to maternal parameters, including heart rate, systolic and diastolic blood pressures. Fetal bradycardia occurred in 4/22 cases (18.2%) of open in-utero closure and in 21/46 cases (45.7%) of fetoscopic closure. FHR gradually decreased in both cohorts after general anesthesia and decreased further during surgery. FHR were significantly lower after two hours of surgery in the fetoscopic closure than in the open in-utero closure group. In addition, the FHR (BPM) change in the final stages of the fetal surgery from the baseline FHR was significantly lower in the fetoscopic cohort (-32.3 (-35.7, -29.1)) compared to the open cohort (-23.5 (-28.1, -18.8))(p=0.002). Abnormal end-diastolic flow (defined as absent or reversed end-diastolic flow) in the umbilical artery Doppler velocity occurred in 3/22 (13.6%) of the open closure cohort and in 23/46 (50%) of the fetoscopic closure cohort (p=0.004). There were no differences in umbilical artery end-diastolic flow and pulsatility index between closure techniques during the various stages of assessment. We observed a decrease in the FHR and abnormalities in umbilical artery Doppler parameters in both open in-utero and fetoscopic closure groups. Fetal bradycardia was more prominent during fetoscopic closure following heated-humidified carbon dioxide insufflation, but the FHR recovered after cessation of the heated-humidified carbon dioxide. Changes in FHR and umbilical artery Doppler parameters during in-utero spina bifida closure were observed to be transient, no cases required emergency delivery and no fetoscopic closure were converted to open closure. These observations should inform algorithms for perioperative management of fetal bradycardia associated with in-utero spina bifida closure. This article is protected by copyright. All rights reserved.

Fetal Spina Bifida Repair in Obese Mothers: Is Maternal and Fetal Safety Compromised?

Introduction: The Management of Myelomeningocele Study (MOMS) eligibility criteria preclude in utero surgery for fetal spina bifida (fSB) when the maternal body mass index (BMI) is ≥35 kg/m². Some centers still respect this criterion, while others, like ours, do not. This study aimed to assess whether maternal and fetal safety is compromised with higher maternal BMIs. Methods: Data of 192 patients with open fSB repair at our center were retrospectively analyzed. According to their BMI, patients were divided into three groups: group 1 (BMI <30 kg/m²), group 2 (BMI 30–35 kg/m²), and group 3 (BMI >35 kg/m²). Subgroup analysis was performed to assess differences in maternal and fetal outcomes. Additionally, complications were divided into grades 1 to 5 according to their severity and outcome consequences and compared among groups. Results: Out of 192 patients, 146 (76.0%) had a BMI <30 kg/m², 28 (14.6%) had a BMI 30–35 kg/m², and 18 (9.4%) had a BMI >35 kg/m². Significant differences occurring more often in either group 2 or 3 compared to group 1 were maternal wound seroma (50% or 56% vs. 32%, p = 0.04), amniotic fluid leakage (14% or 6% vs. 2%, p = 0.01) as well as vaginal bleeding (11% or 35% vs. 9%, p = 0.01). On the contrary, duration of tocolysis with atosiban was shorter in patients with BMI >30 kg/m² (4 or 5 vs. 6 days, p = 0.01). When comparing severity of maternal or fetal complications, grade 1 intervention-related complications occurred significantly more often in group 3 compared to group 1 or 2 (78% vs. 45% or 57%, p = 0.02). Gestational age at delivery was around 36 weeks in all groups without significant differences. Conclusion: This investigation did not identify clinically relevant maternal and/or fetal outcome problems related to BMIs >35 kg/m². Additional studies are however needed to confirm our results.

Pediatrics severe low back pain by disc herniation: an uncommon entity

BackgroundCommon severe back pain due to disc herniation is rare in the paediatric population which involves children under eighteen years of age. Paediatric lumbar disc herniation (LDH) cannot be considered the same disease as in adults, as it has potentially different natural and clinical backgrounds. The treatment of pediatric LDH is the other particularity of this condition. Indeed, in children, delaying surgery for a conservative treatment is justified. We report 3 cases treated in 8 years.Case presentationThree patients, two of whom were 14 years of age and one 17 years of age, were admitted for L5 or S1 lumbosciatica. A CT scan showed a lumbar disc herniation L5S1 associated with bi-isthmic lysis (and a transitional abnormality in 1 case or spina bifida occulta in 1 other case). The last patient had an magnetic resonance imaging (MRI) that showed a herniated L4L5 disc. The diagnosis of low back pain disc herniation was retained in two patients and that of disabling low back disc in one patient. Percutaneous discolysis in the two hyperalgesic cases and epidural corticosteroid infiltration in the disabling case were effective on lumbosciatica.ConclusionPaediatric common lomw back pain caused by a disc herniation with a hyperalgic or disabling character posed a therapeutic problem which were solved by the invasive approaches that must be given priority nowadays with children.