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Lancet (London, England)Spina bifida results from failure of fusion of the caudal neural tube, and is one of the most common malformations of human structure. The causes of this disorder are... (Review)
Review
Spina bifida results from failure of fusion of the caudal neural tube, and is one of the most common malformations of human structure. The causes of this disorder are heterogeneous and include chromosome abnormalities, single gene disorders, and teratogenic exposures. However, the cause is not known in most cases. Up to 70% of spina bifida cases can be prevented by maternal, periconceptional folic acid supplementation. The mechanism underlying this protective effect is unknown, but it is likely to include genes that regulate folate transport and metabolism. Individuals with spina bifida need both surgical and medical management. Although surgical closure of the malformation is generally done in the neonatal period, a randomised clinical trial to assess in utero closure of spina bifida has been initiated in the USA. Medical management is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplinary team.
Topics: Animals; Female; Fetal Therapies; Humans; Pregnancy; Prenatal Diagnosis; Risk Factors; Spinal Dysraphism
PubMed: 15555669
DOI: 10.1016/S0140-6736(04)17445-X -
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 -
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... Dec 2017
Topics: Humans; Meningomyelocele; Spinal Dysraphism
PubMed: 29154296
DOI: 10.3233/PRM-170469 -
Indian Journal of Pediatrics 1997Spina bifida is the most common central nervous system birth defect encountered by the pediatric neurosurgeon. It is defined by characteristic development abnormalities... (Review)
Review
Spina bifida is the most common central nervous system birth defect encountered by the pediatric neurosurgeon. It is defined by characteristic development abnormalities of the vertebrae and spinal cord and associated changes in the cerebrum, brainstem and peripheral nerves. The expression of spina bifida encompasses the entire central nervous system, ranging in severity from merely an absent spinous process with normal intraspinal structures to the other extreme of myelomeningocoele, Chiari malformation, hydrocephalus, and cortical cytoarchitectural changes. Most children with myelomeningocoele have some degree of weakness of their lower extremities and many have significant orthopaedic problems. As a result of denervation, muscle imbalance ensues and can result in abnormalities at the hip, knee and foot. Anesthesia of various portions of the skin can lead to pressure sores, particularly later in life. Anorectal neuropathy may cause a variety of defecatory dysfunctions. Urologic abnormalities are also common. These multisystem abnormalities associated with spina bifida contribute to its widely accepted identity as the most complex development defect compatible with long life.
Topics: Developmental Disabilities; Humans; Infant, Newborn; Long-Term Care; Longevity; Prognosis; Risk Factors; Severity of Illness Index; Spinal Dysraphism; Treatment Outcome
PubMed: 11129882
DOI: No ID Found -
Urology Jun 2018Spina bifida has traditionally been regarded as a pediatric health issue with little regard to adult consequences of the disorder. The congenital neurologic and urologic... (Review)
Review
Spina bifida has traditionally been regarded as a pediatric health issue with little regard to adult consequences of the disorder. The congenital neurologic and urologic anomalies, as well as sequelae of bladder management, can have a profound impact on adult male sexual function. Abnormalities in testicular descent, development, and function; fertility; penile sensation; erectile function; ejaculatory function; and orgasmic function are common. Prostate cancer has been diagnosed in men with spina bifida, but little data are available to guide screening, diagnosis, and treatment efforts. The Spina Bifida Association has supported development of guidelines for health care providers to address male health issues in individuals with spina bifida throughout their lives.
Topics: Genital Diseases, Male; Health Personnel; Humans; Male; Men's Health; Sexual Dysfunction, Physiological; Spinal Dysraphism
PubMed: 29545051
DOI: 10.1016/j.urology.2018.01.005 -
Pediatric Clinics of North America Oct 1996Spina bifida (myelomeningocele) is the most common major birth defect among live-born infants. It is now recognized that half of those cases are preventable if folate is... (Review)
Review
Spina bifida (myelomeningocele) is the most common major birth defect among live-born infants. It is now recognized that half of those cases are preventable if folate is given periconceptionally. Epidemiology is discussed, together with an overview of approaches to orthopedic problems from birth to maturity.
Topics: Female; Folic Acid Deficiency; Humans; Infant, Newborn; Male; Scoliosis; Spinal Dysraphism
PubMed: 8858078
DOI: 10.1016/s0031-3955(05)70455-7 -
Journal of Developmental and Behavioral... Apr 2013The majority of people with spina bifida in the United States are now older than 18 years of age. Health care delivery for adults with this condition should include... (Review)
Review
The majority of people with spina bifida in the United States are now older than 18 years of age. Health care delivery for adults with this condition should include routine surveillance for common conditions such as hypertension, hyperlipidemia and cancer. It should also address spina bifida-related complications such as pressure sores, lymphedema, sexual dysfunction and infertility, and hydrocephalus, as well as chiari-related symptoms such as sleep apnea and urologic and renal functioning. Almost all adults with spina bifida benefit from regular followup with specialists in urology, neurosurgery and physiatry. Health care providers for adults with spina bifida should recognize the impact of executive dysfunction and nonverbal learning disability on self management, independent living, and employment in adults with spina bifida.
Topics: Adult; Age Factors; Aging; Delivery of Health Care; Humans; Spinal Dysraphism
PubMed: 23572172
DOI: 10.1097/DBP.0b013e31828c5f88 -
The Pan African Medical Journal 2022
Topics: Humans; Spinal Dysraphism; Meningomyelocele
PubMed: 36338552
DOI: 10.11604/pamj.2022.42.258.35894 -
Journal of Pediatric Rehabilitation... 2020While the neuropsychological profile for individuals with Spina Bifida (SB) can vary, often certain patterns of strengths and weaknesses are evident across the lifespan.... (Review)
Review
While the neuropsychological profile for individuals with Spina Bifida (SB) can vary, often certain patterns of strengths and weaknesses are evident across the lifespan. Understanding variability related to neural structure, genetics, ethnicity, and the environment is key to understanding individual differences in outcomes and can be vital in planning interventions and tracking progress. This article outlines the SB Guideline for the Neuropsychological Care of People with Spina Bifida from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB neurocognitive profiles is warranted.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Nervous System Diseases; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33285647
DOI: 10.3233/PRM-200761