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Nature Reviews. Disease Primers Apr 2015Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele... (Review)
Review
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa.
Topics: Female; Folic Acid; Humans; Meningomyelocele; Pregnancy; Prenatal Care; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 27189655
DOI: 10.1038/nrdp.2015.7 -
Current Problems in Pediatric and... Jul 2017Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28... (Review)
Review
Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. With advances in treatment modalities, technologies, and medical knowledge, people with spina bifida in the United States are living well into adulthood. Myelomeningocele management includes life-long comprehensive neurologic, urologic, musculoskeletal, skin, and habilitation management. We describe approaches to the same, with an emphasis on the signs and symptoms of medical urgencies and emergencies of which every pediatrician must be aware.
Topics: Disease Management; Humans; Musculoskeletal Diseases; Nervous System Diseases; Skin Diseases; Spinal Dysraphism; Urologic Diseases
PubMed: 28734746
DOI: 10.1016/j.cppeds.2017.06.007 -
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 -
Journal of Pediatric Rehabilitation... Dec 2017
Topics: Humans; Meningomyelocele; Spinal Dysraphism
PubMed: 29154296
DOI: 10.3233/PRM-170469 -
Der Radiologe Jul 2018Spina bifida is a congenital disorder with incomplete closure of the spinal column due to a bony vertebral defect. The term spina bifida literally means cleft spine... (Review)
Review
Spina bifida is a congenital disorder with incomplete closure of the spinal column due to a bony vertebral defect. The term spina bifida literally means cleft spine and is used as a generic term of spinal dysraphism (Greek: Raphe = seam). It is a midline defect that occurs during the embryonic period. The insufficient closure of one or more vertebral arches is the result of an incomplete junction of the neural tube. Depending on the extent of the neural tube defect, various types of spina bifida can be differentiated. Closed spinal dysraphisms, also known as spina bifida occulta, are solely characterized by a bony defect of the vertebral arch, whereas, spina bifida cystica (synonym: open spina bifida or spina bifida aperta) can be distinguished by a protruding cyst, containing either meninges or meninges in combination with spinal cord tissue and are defined as open spinal dysraphisms.
Topics: Humans; Spinal Cord; Spinal Dysraphism; Spine
PubMed: 29797041
DOI: 10.1007/s00117-018-0401-9 -
The New England Journal of Medicine Oct 2022
Topics: Humans; Spinal Dysraphism
PubMed: 36300989
DOI: 10.1056/NEJMc2211513