Neurosurgical Management of Myelomeningocele in Premature Infants: A Case Series.

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 hours 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 hours 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), and 2 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 hours 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.

What has changed in pediatric neurosurgical care in spina bifida? A 30-year UAB/Children's of Alabama observational overview.

Spina bifida (SB) remains the most serious and most common congenital anomaly of the human nervous system that is compatible with life. The open myelomeningocele on the back is perhaps the most obvious initial problem, but the collective impact of dysraphism upon the entirety of the nervous system and innervated organs is an equal or greater longitudinal threat. As such, patients with myelomeningocele (MMC) are best managed in a multi-disciplinary clinic that brings together experienced medical, nursing, and therapy teams that provide high standards of care while studying outcomes and sharing insights and experiences. Since its inception 30 years ago, the spina bifida program at UAB/Children's of Alabama has remained dedicated to providing exemplary multi-disciplinary care for affected children and their families. During this time, there has been great change in the care landscape, but many of the neurosurgical principles and primary issues have remained the same. In utero myelomeningocele closure (IUMC) has revolutionized initial care and has favorable impact on several important co-morbidities of SB including hydrocephalus, the Chiari II malformation, and the functional level of the neurologic deficit. Hydrocephalus however is not solved by IUMC, and hydrocephalus management remains at the center of neurosurgical care in SB. Ventricular shunts were long the cornerstone of treatment for hydrocephalus, but we came to assess and incorporate endoscopic third ventriculostomy with choroid plexus coagulation (ETV-CPC). Educated and nurtured by an experienced senior mentor, we dedicated ourselves to fundamental concepts but persistently evaluated our care outcomes and evolved our protocols and paradigms for improvement. Active conversations amidst networks of treasured colleagues were central to this development and growth. While hydrocephalus support and treatment of tethered spinal cord remained our principal neurosurgical charges, we evolved to embrace a holistic perspective and approach that is reflected and captured in the Lifetime Care Plan. Our team engaged actively in important workshops and guideline initiatives and was central to the development and support of the National Spina Bifida Patient Registry. We started and developed an adult SB clinic to support our patients who aged out of pediatric care. Lessons there taught us the importance of a model of transition that emphasized personal responsibility and awareness of health and the crucial role of dedicated support over time. Support for sleep, bowel health, and personal intimate cares are important contributors to overall health and care. This paper details our growth, learning, and evolution of care provision over the past 30 years.

Functional level of lesion scale: Validating fourteen years of research with the national spina bifida patient registry.

PURPOSE: Functional level of lesion (FLOL) is a grading of the level of neurological function in patients with myelomeningocele and other forms of spina bifida. It has been widely used as an independent variable in studies of spina bifida, but its inter-rater reliability has not previously been tested. The purpose of this study was to measure inter-rater reliability of FLOL testing and compare testing performed by a non-medically trained research associate to testing performed by a pediatric rehabilitation medicine specialist. METHODS: Children in a multi-disciplinary spina bifida clinic underwent FLOL grading by a non-medically trained research associate. On the same day, these children were also graded by a pediatric rehabilitation medicine specialist. Cohen's weighted kappa statistic was used to compare grading, with the rehabilitation medicine specialist considered the gold standard. RESULTS: A total of 71 patients participated. FLOL was graded for left and right leg for each participant, resulting in 142 measurements. Cohen's weighted kappa was κ= 0.809, with a standard error of 0.034 and 95% confidence interval 0.723-0.875, indicating substantial agreement. CONCLUSION: FLOL as measured according to the instructions of the National Spina Bifida Patient Registry by a non-medically trained researcher is a reliable method to grade lower extremity function in spina bifida.

A qualitative interview study on successful pregnancies in women with spina bifida.

BACKGROUND: Improvements in antenatal medicine and surgical management for conditions associated with spina bifida such as hydrocephalus have extended the lifespan for individuals with spina bifida (SB) into adulthood. Decisions and education regarding reproductive care and pregnancies for patients with spina bifida are increasingly important. Pregnancy in these patients can be particularly challenging due to physical limitations, previous abdominal surgery for urinary or bowel management and presence of a ventriculoperitoneal shunt. To date, little research has examined the unique challenges that women with spina bifida face during pregnancy. OBJECTIVE: The purpose of this descriptive study is to characterize the successful pregnancy histories of SB women and describe how pregnancy affected their mobility as well as bladder and bowel management. STUDY DESIGN: We conducted semi-structured interviews with women followed in our adult multidisciplinary SB clinic who previously had successful pregnancies. Questions regarding perinatal issues, obstetrical complications, urinary tract infections (UTI) and neurological changes were asked. Baseline mobility, bladder and bowel management were compared with changes during and after pregnancy. RESULTS: 121 women of childbearing age were followed per year by our adult multidisciplinary spina bifida clinic between 2009 and 2016. We identified 6 women who successfully carried 8 pregnancies to term. There were no miscarriages. Four women had ventriculoperitoneal (VP) shunts. No children were born with neural tube defects. Mean age at first pregnancy was 23.5 years. Average gestational age at delivery was 37 weeks. 50% of the women had a spontaneous vaginal delivery. Five of six women intended to get pregnant; only one patient consumed folic acid regularly prior to pregnancy. Two of six women had bladder augmentation surgery, one of whom had urologic changes during pregnancy that persisted after childbirth. The other patient had a concomitant bladder neck sling procedure and did not have urologic issues during pregnancy. 50% of the patients experienced bladder-bowel dysfunction during their pregnancy. While 67% patients had full baseline ambulatory function, 4 patients had decreased mobility and required additional assistance during pregnancy. All returned to their baseline functionality afterwards. CONCLUSION: Six of our patients had eight successful pregnancies, with no children born with neural tube defects. New changes to mobility, bladder and bowel management were experienced by over half of the women during their pregnancies. Future studies should focus on the role of multidisciplinary teams in reproductive health education and perinatal management of changes to activities of daily living during pregnancy in this population.

Caring for the Child with Spina Bifida.

Care for a child with spina bifida can be complex, requiring multiple specialists. Neurosurgical care centers around the initial closure or repair of the spinal defect, followed by management of hydrocephalus, symptoms of the Chiari 2 malformation, and tethered cord. This article reviews definitions and types of spina bifida, considerations surrounding the initial treatment, including fetal surgery, and the ongoing neurosurgical management of common comorbid conditions. The role of interdisciplinary care is stressed, as well as the importance of coordinated transition to adult care at an appropriate age and developmental stage.

Hydrocephalus in Spina Bifida.

Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have required treatment with a shunt but recent advances including intra-uterine myelomeningocele closure and ETV-CPC are reducing this burden. The expression of hydrocephalus differs between patients and across the life span. Hydrocephalus impacts the clinical expression of other important co-morbidities including the Chiari II malformation and tethered spinal cord. Shunt failure is often the key stress to prompt symptomatic worsening of these other conditions. Shunt failure may occur with minimal ventricular change on CT or MRI in Spina Bifida patients. Waiting for radiographic changes in symptomatic SB patients with shunts may result in hydrocephalus related fatalities. It is hypothesized but not proven that shunt failure may contribute to respiratory insufficiency and be a risk factor for sudden death in adult patients with spina bifida. Excellence in hydrocephalus management in MMC is essential for proper care, good outcomes, and quality of life for patients and families.

Prevalence of Sleep Disordered Breathing in Children With Myelomeningocele.

BACKGROUND: Retrospective studies have shown high rates of sleep disordered breathing in children with myelomeningocele. However, most patients included in those studies underwent polysomnography because of symptoms, so the prevalence of sleep disordered breathing in this population is unknown. OBJECTIVE: To determine the prevalence of sleep disordered breathing in children with myelomeningocele using screening polysomnography. METHODS: In this cross-sectional study, all children with myelomeningocele seen in a multi-disciplinary spina bifida clinic between 2016 and 2020 were referred for polysomnography regardless of clinical symptoms. Included children had not previously undergone polysomnography. The primary outcome for this study was presence of sleep disordered breathing, defined as Apnea-Hypopnea Index (AHI, number of apnea or hypopnea events per hour of sleep) greater than 2.5. Clinical and demographic variables relevant to myelomeningocele were also prospectively collected and tested for association with presence of sleep apnea. RESULTS: A total of 117 participants underwent polysomnography (age 1 mo to 21 yr, 49% male). The majority were white, non-Hispanic. Median AHI was 1.9 (interquartile range 0.6-4.2). A total of 49 children had AHI 2.5 or greater, yielding a sleep disordered breathing prevalence of 42% (95% CI 33%-51%). In multivariable logistic regression analysis, children with more rostral neurological lesion levels had higher odds of sleep disordered breathing (OR for thoracic, mid-lumbar, and low-lumbar: 7.34, 3.70, 4.04, respectively, compared to sacral level, P = .043). CONCLUSION: Over 40% of a sample of children with myelomeningocele, who underwent screening polysomnography, had significant sleep disordered breathing. Routine screening polysomnography may be indicated in this population.

Health care transition in pediatric neurosurgery: a consensus statement from the American Society of Pediatric Neurosurgeons.

OBJECTIVE: The number of children with complex medical conditions surviving to adulthood is increasing. A planned transition to adult care systems is essential to the health maintenance of these patients. Guidance has been established for the general health care transition (HCT) from adolescence to adulthood. No formal assessment of the performance of pediatric neurosurgeons in HCT has been previously performed. No "best practice" for this process in pediatric neurosurgery currently exists. The authors pursued two goals in this paper: 1) define the current state of HCT in pediatric neurosurgery through a survey of the membership of the American Society of Pediatric Neurosurgeons (ASPN) on current methods of HCT, and 2) develop leadership-endorsed best-practice guidelines for HCT from pediatric to adult neurosurgical health care. METHODS: Completion of the Current Assessment of Health Care Transition Activities survey was requested of 178 North American pediatric neurosurgeons by using a web-based questionnaire to capture HCT practices of the ASPN membership. The authors concurrently conducted a PubMed/MEDLINE-based literature review of HCT for young adults with special health care needs, surgical conditions, and/or neurological conditions for the period from 1990 to 2018. Selected articles were assembled and reviewed by subject matter experts and members of the ASPN Quality, Safety, and Advocacy Committee. Best-practice recommendations were developed and subjected to peer review by external expert groups. RESULTS: Seventy-six responses to the survey (43%) were received, and 62 respondents (82%) answered all 12 questions. Scores of 1 (lowest possible score) were recorded by nearly 60% of respondents on transition policy, by almost 70% on transition tracking, by 85% on transition readiness, by at least 40% on transition planning as well as transfer of care, and by 53% on transition completion. Average responses on all core elements were < 2 on the established 4-point scale. Seven best-practice recommendations were developed and endorsed by the ASPN leadership. CONCLUSIONS: The majority of pediatric neurosurgeons have transition practices that are poor, do not meet the needs of patients and families, and should be improved. A structured approach to transition, local engagement with adult neurosurgical providers, and national partnerships between pediatric and adult neurosurgery organizations are suggested to address current gaps in HCT for patients served by pediatric neurosurgeons.

Care management and contemporary challenges in spina bifida: a practice preference survey of the American Society of Pediatric Neurosurgeons.

OBJECTIVE: Neurosurgical management preferences related to myelomeningocele (MMC) care demonstrate significant variability. The authors sought to evaluate variability in practice patterns across a group of senior pediatric neurosurgeons. The purpose of this study was to identify the extent of variability and of consensus with regard to neurosurgical management of MMC and associated hydrocephalus, Chiari II malformation, and tethered spinal cord. METHODS: A 43-question survey was distributed electronically to the members of the American Society of Pediatric Neurosurgeons (ASPN). The survey covered domains such as clinic case volume, newborn management, hydrocephalus management, transition to adulthood, clinical indications for shunt revision, Chiari II malformation decompression (C2MD), and tethered cord release (TCR). Ninety responses were received from 200 active ASPN members, for an overall response rate of 45%. RESULTS: The majority (58%) of respondents closed 5-15 new cases of open MMC per year. Nearly all (98%) respondents perform back closure within 48 hours of birth, with the majority imbricating the placode and striving for a 3- to 4-layer closure. The most consistent indications for surgical intervention in early hydrocephalus were CSF leak from the back (92%), progressive ventricular enlargement (89%), and brainstem symptoms, including apnea/bradycardia (81%), stridor (81%), and dysphagia (81%). Eighty percent of respondents indicated that spina bifida care is delivered through multidisciplinary clinics, with neurosurgery, orthopedic surgery, urology, physical therapy, and social work as the most common disciplines included. One-third of clinics see both pediatric and adult patients, one-third offer a formal transition program to adult care, and one-third have no transition program. The vast majority of respondents offer prenatal counseling (95%), referral for in utero closure (66%), and endoscopic third ventriculostomy/choroid plexus cauterization (72%). Respondents were more willing to perform shunt revision for symptoms alone than for image changes alone. An asymptomatic broken shunt without ventricular enlargement produced responses evenly divided between observation, intervention, and further investigation. Operative shunt exploration was always performed before C2MD by 56% of respondents and performed sometimes by 40% of respondents. Symptoms of brainstem dysfunction were the strongest clinical triggers reported for C2MD, while declines in urinary continence, leg strength or sensation, or ambulation were the most consistent thresholds for TCR. CONCLUSIONS: Significant disparities exist surrounding key areas of decision making regarding treatment for patients with MMC, though there are central areas of agreement among ASPN members. Additionally, there is significant variation in the clinical management of chronic hydrocephalus, C2MD, and TCR, underscoring the need for further research into these specific areas.

Predictors of permanent disability among adults with spinal dysraphism.

OBJECTIVE Predictors of permanent disability among individuals with spinal dysraphism are not well established. In this study, the authors examined potential risk factors for self-reported permanent disability among adults with spinal dysraphism. METHODS A total of 188 consecutive individuals undergoing follow-up in an adult spinal dysraphism clinic completed a standardized National Spina Bifida Patient Registry survey. Chi-square tests and logistic regression were used to assess bivariate relationships, while multivariate logistic regression was used to identify factors independently associated with self-identification as "permanently disabled." RESULTS A total of 106 (56.4%) adults with spina bifida identified themselves as permanently disabled. On multivariate analysis, relative to completion of primary and/or secondary school, completion of technical school (OR 0.01, 95% CI 0-0.40; p = 0.021), some college (OR 0.22, 95% CI 0.08-0.53; p < 0.001), college degree (OR 0.06, 95% CI 0.003-0.66; p = 0.019), and holding an advanced degree (OR 0.12, 95% CI 0.03-0.45; p = 0.002) were negatively associated with permanent disability. Relative to open myelomeningocele, diagnosis of closed spinal dysraphism was also negatively associated with permanent disability (OR 0.20, 95% CI 0.04-0.90; p = 0.036). Additionally, relative to no stool incontinence, stool incontinence occurring at least daily (OR 6.41, 95% CI 1.56-32.90; p = 0.009) or more than weekly (OR 3.43, 95% CI 1.10-11.89; p = 0.033) were both positively associated with permanent disability. There was a suggestion of a dose-response relationship with respect to the influence of educational achievement and frequency of stool incontinence on the likelihood of permanent disability. CONCLUSIONS The authors' findings suggest that level of education and degree of stool incontinence are the strongest predictors of permanent disability among adults with spinal dysraphism. These findings will be the basis of efforts to improve community engagement and to improve readiness for transition to adult care in a multidisciplinary pediatric spina bifida clinic.

Urinary tract stone development in patients with myelodysplasia subjected to augmentation cystoplasty.

Patients with myelodysplasia who have undergone augmentation cystoplasty are at risk for urinary tract stones. We sought to determine the incidence and risk factors for stone development in this population. The charts of 40 patients with myelodysplasia who have undergone augmentation cystoplasty were reviewed. None had a prior history of urinary tract stones. All patients were seen on an annual basis with plain abdominal imaging, renal ultrasonography, and laboratory testing. Statistical analysis included a multivariable bootstrap resampling method and Student's t-test. Fifteen (37.5%) patients developed stones, 14 with bladder stones and 1 with a solitary renal stone, at a mean of 26.9 months after augmentation. Five (33.3%) developed recurrent bladder stones. The patient with a renal stone never developed a bladder stone. The mean follow-up for the stone formers was 117.2 months and for non-stone formers was 89.9 months. The stone incidence per year was 6.8%. Risk factors included a decline in serum chloride after augmentation (P = .02), female sex, younger age at time of augmentation, longer time period since augmentation, and bowel continence. A significant proportion of patients with myelodysplasia subjected to augmentation cystoplasty develop urinary tract stones, predominantly in the bladder. Dehydration may play a role in development of lower urinary tract stones as the decline in serum chloride suggests contraction alkalosis, which could lead to constipation and improved bowel continence. Therefore, improved hydration should be a goal in this cohort.

Assessing health-related quality of life in children with spina bifida.

OBJECT: The purpose of this study is to explore various aspects of health-related quality of life (HRQOL) in children with spinal dysraphism. METHODS: The authors enrolled a prospective cohort of 159 patients from the multidisciplinary spina bifida clinic. Surveys were distributed to caregivers of patients with spina bifida who were 5 years old and older. Data were collected using the Health Utilities Index Mark 3 focusing on vision, speech, hearing, dexterity, ambulation, cognition, emotions, and pain. Each participant received an overall HRQOL utility score and individual domain subscores. These were correlated with demographic and treatment variables. Analysis was done using SPSS statistics (version 21). RESULTS: There were 125 patients with myelomeningocele, 25 with lipomyelomeningocele, and 9 with other dysraphisms. Among patients with myelomeningocele, 107 (86%) had CSF shunts in place, 14 (11%) had undergone Chiari malformation Type II decompression, 59 (47%) were community ambulators, and 45 (36%) were nonambulatory. Patients with myelomeningocele had significantly lower overall HRQOL scores than patients with closed spinal dysraphism. Among patients with myelomeningocele, younger patients had higher HRQOL scores. Patients with impaired bowel continence had lower overall HRQOL scores. History of a ventriculoperitoneal shunt was associated with worse HRQOL (overall score, ambulation, and cognition subscores). History of Chiari malformation Type II decompression was associated with worse overall, speech, and cognition scores. Patients who could ambulate in the community had higher overall and ambulation scores. A history of tethered cord release was correlated with lower pain subscore. No association was found between sex, race, insurance type, or bladder continence and HRQOL. CONCLUSIONS: Patients with myelomeningocele have significantly lower HRQOL scores than those with other spinal dysraphisms. History of shunt treatment and Chiari decompression correlate with lower HRQOL scores.