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The New England Journal of Medicine Aug 2022
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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 -
Pediatric Clinics of North America Aug 2021Care 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,... (Review)
Review
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.
Topics: Child; Child Welfare; Family Relations; Health Status; Humans; Patient Transfer; Spinal Dysraphism
PubMed: 34247717
DOI: 10.1016/j.pcl.2021.04.013 -
Journal of Pediatric Rehabilitation... 2020The Spina Bifida Association (SBA) is the organization that represents the needs of the population with spina bifida (SB). They are tasked with advocacy, education,... (Review)
Review
The Spina Bifida Association (SBA) is the organization that represents the needs of the population with spina bifida (SB). They are tasked with advocacy, education, optimizing care, and providing a social voice for those with spina bifida. In response to the tenet of optimizing care they were tasked with developing up to date clinical care guidelines which address health care needs for those impacted by spina bifida throughout their lifespan. This article will discuss the SB Mobility Healthcare Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida.
Topics: Adolescent; Adult; Child; Child, Preschool; Dependent Ambulation; Female; Humans; Infant; Infant, Newborn; Male; Mobility Limitation; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33325411
DOI: 10.3233/PRM-200744 -
The New England Journal of Medicine Oct 2022
Topics: Humans; Spinal Dysraphism
PubMed: 36300988
DOI: 10.1056/NEJMc2211513 -
The New England Journal of Medicine Oct 2022
Topics: Humans; Spinal Dysraphism
PubMed: 36300989
DOI: 10.1056/NEJMc2211513 -
Pediatric Hematology and Oncology Oct 2020Spina bifida has been reported to co-occur with pediatric cancer, but comprehensive evaluations remained elusive. We investigated this co-occurrence in two large,...
Spina bifida has been reported to co-occur with pediatric cancer, but comprehensive evaluations remained elusive. We investigated this co-occurrence in two large, population-based studies in Taiwan (N = 1900 cancer cases, 2,077,137 controls) and Denmark (N = 5508 cases, 137,700 controls). Analyses in Denmark were restricted to the period before prenatal diagnostics became available (2004) and pregnancy terminations of fetuses with birth defects became more common. Using national patient and cancer registries, we linked spina bifida and cancer diagnoses among cases and non-cases. The risk of spina bifida among all cancer cases was increased and similar in Denmark [odds ratio (OR)=8.4, 95% confidence interval (CI) 5.1-13.8] and Taiwan (OR = 8.5, 95% CI 4.0-17.8), particularly for central nervous system (CNS) tumors (Denmark: OR = 16.3, 95% CI 8.1-33.0; Taiwan: OR = 26.6, 95% CI 8.5, 83.1), including benign CNS tumors (Denmark: OR = 41.5, 95% CI 21.2, 81.4). These findings suggest the need for comprehensive investigation of shared risk factors in the link between spina bifida and pediatric cancer.
Topics: Adolescent; Central Nervous System Neoplasms; Child; Child, Preschool; Denmark; Humans; Infant; Neoplasms; Odds Ratio; Prevalence; Registries; Risk Factors; Spinal Dysraphism; Taiwan; Young Adult
PubMed: 32364426
DOI: 10.1080/08880018.2020.1760409 -
Birth Defects Research Jan 2021Mandatory folic acid fortification of staples is a proven intervention to prevent spina bifida and anencephaly, two life-threatening and disabling neural tube defects....
BACKGROUND
Mandatory folic acid fortification of staples is a proven intervention to prevent spina bifida and anencephaly, two life-threatening and disabling neural tube defects. We estimated the global proportion of folic acid-preventable spina bifida and anencephaly (FAP SBA) prevented through mandatory folic acid fortification of wheat and/or maize flour in 2019.
METHODS
Using data from the Global Fortification Data Exchange, we identified countries with mandatory fortification policies that required at least 1.0 ppm folic acid be added to wheat and/or maize flour and had information on percentage of industrially milled flour that is fortified. We built FAP SBA prevention models assuming mandatory folic acid fortification at 200 μg/day of folic acid fully protects against FAP SBA and would lower the prevalence neural tube defects to 0.5 per 1,000 live births.
RESULTS
In 2019, 56 countries met our criteria for mandatory folic acid fortification of wheat (n = 56 countries) and/or maize (n = 15 countries) flour and with complete data for our modeling. Overall, our prevention model estimated that 65,380 FAP SBA cases were prevented in 2019 through folic acid fortification of wheat and/or maize flour. We estimated the current global prevention proportion of all preventable FAP SBA cases worldwide to be at 23% of total possible prevention.
CONCLUSION
Global prevention efforts for FAP SBA are slow and have stalled. Mandatory fortification should be urgently implemented in all countries to prevent epidemics of FAP SBA, and to achieve health-related Sustainable Development Goals for year 2030 by reducing child mortality due to preventable FAP SBA.
Topics: Anencephaly; Child; Folic Acid; Food, Fortified; Humans; Neural Tube Defects; Spinal Dysraphism
PubMed: 33124747
DOI: 10.1002/bdr2.1835 -
Journal of Pediatric Rehabilitation... 2021Worldwide neural tube defects, such as encephalocele and spina bifida (SB), remain a substantial cause of the global burden of disease; and in the US, Latinos...
Worldwide neural tube defects, such as encephalocele and spina bifida (SB), remain a substantial cause of the global burden of disease; and in the US, Latinos consistently have a higher birth prevalence of SB compared with other ethnic groups. From limited access and fragmented care, to scarcely available adult services, many are the challenges that besiege those living with SB. Thus, to provide inclusion and active involvement of parents of children and adults with SB from all communities, innovative approaches will be required, such as community-based participatory research and culturally competent learning collaboratives. Promisingly, the Spina Bifida Community-Centered Research Agenda was developed by the community of people living with SB through the Spina Bifida Association (SBA). Additionally, the SBA will host the Fourth World Congress on Spina Bifida Research and Care in March of 2023. Just as the SBA is clearly committed to this population, the Journal of Pediatric Rehabilitation Medicine will continue to serve as a catalyst for SB care, education, and research across the SB population in a global context.
Topics: Adult; Child; Hispanic or Latino; Humans; Neural Tube Defects; Prevalence; Spinal Dysraphism
PubMed: 34864704
DOI: 10.3233/PRM-219015 -
Developmental Medicine and Child... Mar 2021
Topics: Brain; Humans; Nervous System Malformations; Spinal Dysraphism
PubMed: 33236354
DOI: 10.1111/dmcn.14745