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At least 19 recordsLinked to original sources
PubMed1992

A proposed grading and scoring system for spina bifida: Spina Bifida Neurological Scale (SBNS)

Neurological symptoms present in neonates with spinal dysraphism often progress with growth. A simple, objective scoring system for quantitative analysis of spinal neurological deficits, called the Spina Bifida Neurological Scale (SBNS), is proposed. Scoring is based on (1) motor function, (2) reflexes, and (3) bladder and bowel function. These are each divided into six, four, and five points respectively with respect to the level of spinal function. Motor function and reflexes are bilaterally analyzed, and the maximum SBNS score of 15 points reflects a normal spinal neurological state (grade I). This scoring system was correlated with the clinical condition of 89 patients with spina bifida who were graded from I to V. A total score of less than 5 was associated with a nonambulatory state (grade IV or V) in 84.0% of patients, and a score of 5-9 was associated with an ambulatory state (grade III) in 93.8% of patients. Scores of 10-14 reflected control of bladder and bowel function (grade II) in all patients. The application of a standardized scoring scheme will assist in the evaluation of patients' clinical status and will enable analysis of chronological changes in neurological function.

Adolescent↗
PubMed1996

[Congenital hip dislocation associated with spina bifida].

Spina bifida is commonly associated with hydrocephalus and feet malformations, however its association with congenital dislocation of the hip is not well document. We retrospectively analyzed the medical records of 120 children aged 6 months to 15 years old, admited to a rehabilitation center with the diagnosis of spina bifida. Fifty six children (55.4%) had dislocation of the hip (36 of 53 women and 20 of 48 men). These figures are higher than those reported for newborns by the Latin-American Collaborative Stud of Congenital Malformations. We conclude that congenital dislocation of the hip is frequent in children with spina bifida.

Adolescent↗
PubMedDate not supplied

Spina bifida.

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.

Developmental Disabilities↗
PubMed1999

Distribution of alleles of the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in familial spina bifida.

Spina bifida cystica (SB) is one of the most common and disabling of birth defects. Folic acid supplementation in mothers during the periconceptional period has been shown to prevent more than 70% of neural tube defects (NTD) including SB. However, the mechanism is unknown. We tested a series of multicase SB families in which 224 individuals were genotyped and a group of 215 unrelated unaffected (external) control individuals for association of SB with the T allele of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism that produces a heat-labile enzyme protein. The data were analyzed using first the transmission/disequilibrium test (TDT) and second a modified case-control study design with Monte Carlo sampling methods. No association of SB with the MTHFR T allele was found by either method. Presently, association between SB and the T allele has been found in four studies, a Dutch study, an Irish study, a North American study, and an Italian study. But no association was found in four other studies, a British study, a French study, a Turkish study, and a German study. A California population-based study found only modestly increased risk of SB with this allele that was not significant at the P < 0.05 level. The present study finds no evidence of the association. Only one other study, the German study, has used TDT analysis. The present study is the first to use a modified case-control study design with Monte Carlo sampling methods to test this association. Thus, it appears that the MTHFR T allele is a risk factor for SB in some populations but not others. Major genetic risk factors for folate-related SB remain to be found.

Alleles↗
PubMed1996

Spina bifida.

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.

Female↗
PubMed2002

Language development in children with spina bifida.

Spina bifida meningomyelocele (SBM) is the most common severely disabling birth defect in North America. It is a disorder of the central nervous system that includes, in addition to the defining spinal dysraphism, congenital malformations of the cerebellum and corpus callosum that, along with hydrocephalus, produces a range of cognitive and motor difficulties, including language. In the language domain, many children with SBM demonstrate adequate development of language at the level of form and content (grammar and lexicon). However, most children with SBM experience significant difficulties in the construction of meaning and in pragmatic communication, both of which require flexible language processing in real time. Assessment and intervention should specifically attend to the development of meaning construction and semantic-pragmatic communication.

Child↗
PubMed2000

Foot deformities in adolescents and young adults with spina bifida.

Spina bifida is generally accompanied by a high incidence of foot deformities. The goal of management is to achieve a plantigrade foot. Deformities are related to the level of the lesion. With thoracic lesions, the most frequent deformity is an equinus lesion (55%), a club foot with mid-lumbar lesion (87%) and a calcaneal foot with sacral lesions (34%). No deformity was present in 56% of feet in sacral lesion children. Club foot surgery before the age of 2 years entails a high rate of recurrence (78%), necessitating redo surgery. A calcaneo-valgus deformity developed in 45% of ambulating patients with sacral lesions requiring operative stabilization of the foot. Patients with sacral lesions were almost the only ones who remained ambulators. Ambulation was not seen to be related to foot deformities in adolescents and young adults.

Adolescent↗
PubMed1989

A mouse model for neural tube defects: the curtailed (Tc) mutation produces spina bifida occulta in Tc/+ animals and spina bifida with meningomyelocele in Tc/t.

Curtailed (Tc), a dominant mutation on mouse chromosome 17, causes a tailless phenotype and occasional hindlimb paralysis in heterozygotes. Histologically, Tc/+ embryos show a variety of abnormalities including budding and ventral duplication of the developing spinal cord, duplication and intermittent absence of the notochord, and partial or complete absence of bony vertebrae, all posterior to midliver level. When Tc is heterozygous with t-haplotypes that contain the "tail interaction factor," tct, the phenotype is more severe, and a dorsal blood blister exists in the lumbosacral area. Our microscopic observations reveal that Tc/tw5 mice have a lumbosacral spina bifida with meningomyelocele. This results from the absence of bony vertebrae, extensive thinning of the dermis dorsally, and the rupturing of the previously closed neural tube, probably by increased cerebrospinal fluid (CSF) pressure on the necrotic, attenuated roof plate. Thinning of the roof plate, which facilitates the rupturing of the spinal cord, is not observed in Tc/+, which suggests that this phenomenon is associated with the interaction of Tc with the t-allele. Later in the development of Tc/tw5 embryos, adjacent blood vessels are ruptured, resulting in hemorrhage into the CSF space to give the external appearance of a blood blister. Tc/+ mice also show an absence of bony vertebrae dorsally in the lumbosacral region, but they lack the dorsal blood blister, and the dermal layer overlying the bony defect retains its normal thickness; these observations describe a spina bifida occulta.

Animals↗
PubMed2000

[Fetal pathology study of 88 cases of letal spina bifida].

Lethal spina bifida continue to be frequent in Tunisia; we report 88 cases of letal spina bifida: 1.05 per thousand births. This pathology was more frequent with women. The up letal spina bifida situated is predominant with female and the dow spina bifida situated is frequent with male. We have noted an association with anencephalia (46 cases) and hydrocephaly (21 cases). Prevention is based on obstetric health care and hygiene dietetic advices to avoid alimentary deficit.

Adult↗
PubMed1983

Coxa vara in spina bifida.

In spina bifida the femoral neck can develop either the well-known coxa valga or the hitherto unreported coxa vara. Twenty-three cases of coxa vara in spina bifida are reported. These result from spontaneous separation of the upper femoral epiphysis (10 cases), spontaneous fracture of the femoral neck (three cases) and iatrogenic avascular necrosis of the upper femoral epiphysis (10 cases).

Child↗
PubMed2002

Needs assessment in a spina bifida program: a comparison of the perceptions by adolescents with spina bifida and their parents.

The primary purpose of this study was to describe and compare medical, psychosocial, and economic needs of adolescents and young adults with a neural tube defect and their parents. A secondary aim of the study was to establish the psychometric properties of a previously published needs assessment tool. Forty-nine adolescent and 59 parents receiving services from a comprehensive spina bifida program at a large children's hospital completed a needs assessment survey designed to measure perceived needs for health and social services. The Needs Assessment Questionnaire includes 8 subscales (Accessibility/Transportation/Independence, Financial Concerns, Medical Resources, Communication/Acceptance of individuals with spina bifida, Family/Socialization, Education of others regarding spina bifida, School Services, and Vocational Training). Factors related to perceived needs and differences between adolescents and parents were explored. There was a significant difference ( <.05) between parents and adolescents in 6 of the 8 subscales. On the remaining 2 subscales, differences between parents and adolescents approached significance. In all areas of needs for services, parents were less satisfied with the delivery of services and reported that needs were not being met. A significant negative correlation between age of the adolescent and perceived needs related to Transportation/Independence ( = -0.35) and School Services ( = -0.31) was found. Parents with more than a high school education perceived significantly greater needs for Vocational Training than those with less education ( = -2.1, =.04). Identification of medical, psychosocial, and economic needs of adolescents with a neural tube defect and their families has implications for quality improvement and program development.

Adolescent↗