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Neurology India 2021Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have... (Review)
Review
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.
Topics: Adult; Arnold-Chiari Malformation; Humans; Hydrocephalus; Meningomyelocele; Quality of Life; Spinal Dysraphism
PubMed: 35102990
DOI: 10.4103/0028-3886.332247 -
Archivos Argentinos de Pediatria Jun 2021A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved... (Review)
Review
A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele.
Topics: Female; Fetoscopy; Humans; Meningomyelocele; Pregnancy; Prenatal Care; Prenatal Diagnosis
PubMed: 34033426
DOI: 10.5546/aap.2021.eng.e215 -
JAMA Pediatrics Apr 2021The Management of Myelomeningocele Study (MOMS), a randomized clinical trial of prenatal vs standard postnatal repair for myelomeningocele, found that prenatal repair... (Comparative Study)
Comparative Study Randomized Controlled Trial
IMPORTANCE
The Management of Myelomeningocele Study (MOMS), a randomized clinical trial of prenatal vs standard postnatal repair for myelomeningocele, found that prenatal repair reduced hydrocephalus and hindbrain herniation and improved motor function in children aged 12 to 30 months. The Management of Myelomeningocele Study Follow-up (MOMS2) was conducted in children at ages 5 to 10 years. The primary (neurocognitive) outcome has already been reported.
OBJECTIVE
To determine whether MOMS2 participants who had prenatal repair have better physical functioning than those with postnatal repair.
DESIGN, SETTING, AND PARTICIPANTS
Participants from MOMS were recruited for participation in the follow-up study, MOMS2, conducted from April 9, 2012, to April 15, 2017. For this secondary analysis of the randomized clinical trial, trained examiners without knowledge of the treatment group evaluated the physical characteristics, self-care skills, neurologic function, and mobility of the children. Physical functioning outcomes were compared between the prenatal and postnatal repair groups. MOMS2 was conducted at the same 3 clinical sites as MOMS. Home visits were conducted for families who were unable to travel to one of the clinical sites. Of the 161 children with myelomeningocele aged 5 to 10 years old enrolled in MOMS2, 154 had a physical examination and were included in the analyses.
EXPOSURES
Prenatal repair of myelomeningocele.
MAIN OUTCOMES AND MEASURES
Prespecified secondary trial outcomes of self-care skills, functional mobility, walking skills, and motor level.
RESULTS
This analysis included 78 children with postnatal repair (mean [SD] age, 7.4 [2.1] years; 50 girls [64.1%]; 69 White children [88.5%]) and 76 with prenatal repair (mean [SD] age, 7.5 [1.2] years; 43 boys [56.6%]; 70 White children [92.1%]). Children in the prenatal repair group were more competent with self-care skills (mean [SD] percentage of maximum FRESNO Scale score, 90.8% [9.6%] vs 85.5% [17.6%]) and were commonly community ambulators per the Modified Hoffer Classification (51.3% prenatal vs 23.1% postnatal; adjusted relative risk [aRR] for sex, 1.70; 95% CI, 1.23-2.34). Children with prenatal repair also performed the 10-m walk test 1 second faster (difference in medians, 1.0; 95% CI, 0.3-1.7), had better gait quality (adjusted mean difference for home distances of 5 m, 1.71; 95% CI, 1.14-2.54), and could perform higher-level mobility skills (adjusted mean difference for motor total, 5.70; 95% CI, 1.97-11.18). Children in the prenatal repair group were less likely to have a motor function level worse than their anatomic lesion level (aRR, 0.44; 95% CI, 0.25-0.77).
CONCLUSIONS AND RELEVANCE
This secondary analysis of a randomized clinical trial found that the physical functioning benefits of prenatal repair for myelomeningocele reported at age 30 months persisted into school age. These findings indicate the benefit of prenatal repair of myelomeningocele for school-aged children.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT00060606.
Topics: Child; Child, Preschool; Female; Fetal Therapies; Follow-Up Studies; Health Status Indicators; Humans; Infant, Newborn; Male; Meningomyelocele; Pregnancy; Treatment Outcome
PubMed: 33555337
DOI: 10.1001/jamapediatrics.2020.5674 -
PloS One 2021Myelomeningocele is a severe type of spina bifida, resulting from improper closure of the neural tube. This condition drastically affects the structures of the spinal... (Clinical Trial)
Clinical Trial Randomized Controlled Trial
INTRODUCTION
Myelomeningocele is a severe type of spina bifida, resulting from improper closure of the neural tube. This condition drastically affects the structures of the spinal cord resulting in deficiencies. The combination of these deficiencies results in an overall decrease in mobility and functional participation amongst this population. Physiotherapy plays an essential role in rehabilitating people with MMC. The current literature shows that resources such as photobiomodulation (PBM) may support the rehabilitation of neurological conditions. The aim of the proposed study is to evaluate the effects of photobiomodulation (PBM) combined with physical therapy on functional performance in children with low lumbosacral myelomeningocele.
MATERIALS AND METHODS
This is a protocol randomized clinical blind study, that will include 30 individuals of both sexes, aged between 5 to 8 years, diagnosed with low and sacral lumbar myelomeningocele and capable of performing the sit-to-stand task. The participants will be randomly assigned into two treatment groups: PBM + physiotherapeutic exercises and sham PBM + physiotherapeutic exercises. Irradiation will be carried out with light emitting diode (LED) at a wavelength of 850 nm, energy of 25 J per point, 50 seconds per point and a power of 200 mW. The same device will be used in the placebo group but will not emit light. Muscle activity will be assessed using a portable electromyograph (BTS Engineering) and the sit-to-stand task will be performed as a measure of functioning. Electrodes will be positioned on the lateral gastrocnemius, tibialis anterior and rectus femoris muscles. The Pediatric Evaluation of Disability Inventory will be used to assess functional independence. Quality of life will be assessed using the Child Health Questionnaire-Parent Form 50. Changes in participation will be assessed using the Participation and Environment Measure for Children and Youth. The data will be analyzed with the aid of GraphPad PRISM.
DISCUSSION
The results of this study can contribute to a better understanding of the effectiveness of PBM on functioning and quality of life in children with myelomeningocele.
CLINICAL TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT04425330.
Topics: Child; Child, Preschool; Disability Evaluation; Exercise; Exercise Therapy; Female; Humans; Low-Level Light Therapy; Male; Meningomyelocele; Physical Functional Performance; Physical Therapy Modalities; Quadriceps Muscle; Quality of Life
PubMed: 34613973
DOI: 10.1371/journal.pone.0253963 -
Anaesthesia Apr 2021Over the last three decades, advances in early diagnosis of fetal anomalies, imaging and surgical techniques have led to a huge expansion in fetal surgery. A small... (Review)
Review
Over the last three decades, advances in early diagnosis of fetal anomalies, imaging and surgical techniques have led to a huge expansion in fetal surgery. A small number of specialist centres perform fetal surgery, which involves high-risk anaesthesia for the mother and fetus. The anaesthetist plays an integral role within the large multispecialty and multidisciplinary team, involved in planning and delivering care for complex surgical procedures. This article reviews three fetal surgical procedures, congenital diaphragmatic hernia, myelomeningocele repair and ex-utero intrapartum treatment for airway obstruction. The underlying fetal pathology, surgical management, anaesthetic considerations and risks for both the mother and fetus are described for each. Fundamental to this is the understanding that clear communication and collaboration between all team members is vital to ensure successful outcomes of patients, the mother and the fetus.
Topics: Airway Obstruction; Anesthetics; Female; Fetus; Hernias, Diaphragmatic, Congenital; Humans; Laryngoscopy; Meningomyelocele; Prenatal Diagnosis
PubMed: 33682103
DOI: 10.1111/anae.15423 -
JPMA. the Journal of the Pakistan... May 2022To investigate the mutation in Vangl1 gene in patients of myelomeningocele.
OBJECTIVE
To investigate the mutation in Vangl1 gene in patients of myelomeningocele.
METHODS
The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence.
RESULTS
Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%).
CONCLUSIONS
The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region.
Topics: Carrier Proteins; Child; Child, Preschool; Cross-Sectional Studies; Humans; Infant; Infant, Newborn; Membrane Proteins; Meningomyelocele; Mutation; Pakistan; Polymerase Chain Reaction
PubMed: 35713047
DOI: 10.47391/JPMA.04-611 -
Journal of Pediatric Rehabilitation... 2022This study aimed to describe health care use by type of health providers and care settings visited by children with spina bifida (SB) and to compare this use between...
PURPOSE
This study aimed to describe health care use by type of health providers and care settings visited by children with spina bifida (SB) and to compare this use between children with and without a shunt.
METHODS
Health care use data were extracted from a larger study on the health and functioning of children with SB aged 3-6 years. The present study focused on the medical information subsection of a parent-reported survey related to SB care, general care, specialty care (e.g., neurosurgery), emergency care, and complications related to SB and shunts.
RESULTS
Parents of 101 children with SB participated. Most of the children were male with myelomeningocele and had a shunt. They visited a health care provider for SB care an average of 7.4 times and a specialist an average of 11.9 times in the previous 12 months. Most visited a multidisciplinary clinic for SB-related care and a private physician's office for general care. Children with a shunt had more SB-related medical visits, more visits to a specialist, and a greater number of different types of specialists than those without it. Frequency of emergency room visits did not differ between the two groups. Health providers informed parents about headaches, vomiting, and fever as signs of complications, and some parents did report shunt-related complications.
CONCLUSION
SB is a complex medical condition requiring that children receive medical care from various medical specialists, especially for children with a shunt. Findings on health care use suggest high levels of monitoring and care coordination that parents navigate to care for their child.
Topics: Child; Humans; Male; Child, Preschool; Female; Spinal Dysraphism; Meningomyelocele; Parents; Surveys and Questionnaires; Delivery of Health Care
PubMed: 36530103
DOI: 10.3233/PRM-220027 -
Pediatrics Dec 2022Describe the distribution of weight status categories and determine factors associated with overweight and obesity (OW/OB) in children and adolescents with spina bifida...
OBJECTIVES
Describe the distribution of weight status categories and determine factors associated with overweight and obesity (OW/OB) in children and adolescents with spina bifida (SB) using the National Spina Bifida Patient Registry.
METHODS
Demographic, anthropometric, and clinical data collected from 2009 through 2018 was used to describe the prevalence of OW/OB. The generalized estimating equation model (GEE) identified factors associated with OW/OB among individuals with SB.
RESULTS
Participants (n = 7215) were aged 2 to 19 years (mean = 11.1; standard error, 0.06) and 51.4% female. The majority were non-Hispanic white (57.2%) followed by Hispanic or Latino (25.1%) and non-Hispanic Black (7.5%). The myelomeningocele (MMC) subgroup accounted for 76.3%. Most (60.2%) were community ambulators. The overall percentage of OW/OB was 45.2%, with 49.2% of MMC and 32.0% of nonmyelomeningocele OW/OB. Following the Centers for Disease Control Obesity Severity Classification System, 19.7% of MMC were in class 1, 6.6% in class 2, and 3.5% in class 3. Univariate analysis of MMC participants demonstrated demographic (age, sex, race/ethnicity, and clinic region) and clinical variables (functional level of lesion, ambulation, and number of shunt surgeries) were associated with OW/OB. The GEE model showed that OW/OB was independently, and significantly, associated with age, sex, race/ethnicity, lesion levels, and geographic location of the clinics.
CONCLUSIONS
The demographic and clinical factors associated with OW/OB in children and adolescents with SB further our understanding of factors contributing to the higher prevalence of OW/OB in this population and may inform OW/OB prevention and treatment strategies.
Topics: Adolescent; Child; Female; Humans; Male; Spinal Dysraphism; Overweight; Meningomyelocele; Obesity; Registries
PubMed: 36416007
DOI: 10.1542/peds.2022-057007