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Factors relating to intelligence in treated cases of spina bifida cystica.

Analysis of results on 83 survivors of spina bifida cystica showed the following: (1) in the seven children who had had central nervous system (CNS) infection, intelligence was impaired, six being severely retarded. (2) In the nine children who did not suffer CNS infection or require a shunt, intelligence was normal. The need for a shunt was related to radiological appearance (craniolacunae) and to the sensory level at birth. (3) In the 67 children who did not suffer CNS infection but did require a shunt, intelligence was related to sensory level found at birth and to thickness of the pallium measured within four weeks of birth. Their intelligence did not relate to the occipitofrontal circumference at birth, or to its increase before the insertion of the shunt. Intelligence did not relate to the function of the shunt at the time of assessment or to the number of times it had been revised.

Brain Abscess↗

Intellectual and perceptual-motor characteristics of treated myelomeningocele children.

We studied 173 children with myelomeningocele, 133 of whom developed hydrocephalus (and had shunt procedures) and 40 of whom did not. Eighty siblings were tested as a control group. Sixty-three percent of children with hydrocephalus had IQs above 80; 87% of those without hydrocephalus had IQs above 80. Children who had associated hydrocephalus were significantly less intelligent than their siblings, whereas those without hydrocephalus were not. When patients and siblings were not. When patients and siblings were matched by age and IQ, the former scored significantly lower on a perceptual-motor functioning test. When patients with and without hydrocephalus were similarly matched, those with hydrocephalus scored lower. Inverse relationships between sac location and IQ, and sensory level and IQ, were found to be dependent on the association of higher sac levels and of sensory loss with hydrocephalus. Patient IQ was related to family income and education.

Child↗

The changing epidemiology of neural tube defects. United States, 1968-1989.

OBJECTIVE: To describe the recent trends and epidemiologic characteristics of neural tube defects in the United States. RESEARCH DESIGN: Ongoing surveillance data. SETTING: Two birth defect surveillance systems: the nationwide Birth Defects Monitoring Program and the Metropolitan Atlanta (Ga) Congenital Defects Program for 1970 through 1989 and 1968 through 1989, respectively. PARTICIPANTS: Between 1970 and 1989, using discharge diagnoses of approximately 1 million live-born and stillborn infants per year, the Birth Defects Monitoring Program identified 15,503 cases of spina bifida and anencephaly. Between 1968 and 1989, using discharge diagnoses and clinical records until age 1 year of 38,000 infants per year, the Metropolitan Atlanta Congenital Defects Program identified 800 cases of spina bifida and anencephaly. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: Nationwide, neural tube defect rates have declined from 1.3 per 1000 births in 1970 to 0.6 per 1000 births in 1989. In Atlanta, neural tube defect rates have declined from 2.0 per 1000 births in 1968 to 0.6 per 1000 births in 1989. Several changes in the epidemiologic characteristics of neural tube defects were observed: (1) the proportion of spina bifida cases has increased; (2) the proportion of neural tube defect cases compared with the proportion of other unrelated defects has increased; (3) the race ratio of whites to other races for isolated neural tube defect cases has declined in Atlanta; and (4) the rate of isolated neural tube defects in females has also decreased. CONCLUSIONS: The declining rates of neural tube defects can be partially explained by increased widespread prenatal diagnostic techniques, strongly suggesting the role of environmental factors in neural tube defects. In particular, the use of multivitamins and folic acid to prevent the occurrence of neural tube defects needs further evaluation. Nevertheless, the changing clinical and epidemiologic characteristics of cases over time points to the etiologic heterogeneity of these conditions.

Anencephaly↗

The immunization status of children with spina bifida.

OBJECTIVE: To estimate immunization levels among children with spina bifida and describe factors that may influence immunization completeness. RESEARCH DESIGN: Cross-sectional survey. SETTING: Tertiary care referral center. PATIENTS: One hundred twenty children, from 4 months to 18 years of age, seen in the myelodysplasia clinic of Children's Hospital, Boston, Mass, from February through August 1990. RESULTS: Fifty-eight percent of the children 2 years of age or older and 55% of the children 7 years of age or older had completed the immunization series recommended by the American Academy of Pediatrics. All but one child had an identified primary care provider. Lower immunization levels at 24 months of age occurred in older and in poorer children. Most children (80%) received the first diphtheria and tetanus toxoids and pertussis and oral poliovirus vaccines on time. Immunization delay increased from 20% to 50% through the 18-month diphtheria and tetanus toxoids and pertussis and oral poliovirus vaccines and declined to 24% at school entry. CONCLUSIONS: Many children with spina bifida are underimmunized despite having an identified source of primary care.

Adolescent↗

Does periconceptional multivitamin use reduce the risk of neural tube defects associated with other birth defects? data from two population-based case-control studies.

The role of periconceptional folic acid in the prevention of neural tube defects (NTDs) is well established. However, it is not clear whether a protective effect exists for the subset of nonsyndromic NTD with other "unrelated" major structural birth defects (NTD-multiples). This question is important to investigate because of shared pathogenetic mechanisms between NTD and other types of birth defects, and because of the epidemiologic differences that have been shown between NTD-multiples and NTD-singles. We analyzed data from two population-based case-control studies of NTDs, Atlanta 1968-1980, and California 1989-1991, to assess whether periconceptional multivitamin use reduces the risk of NTD-multiples. Maternal vitamin histories were assessed for 47 and 65 NTD-multiples cases and 3,029 and 539 control babies in Atlanta, and California, respectively. There was a substantial risk reduction associated with periconceptional multivitamin use (-3 to +3 months) for NTD-multiples (pooled odds ratio = 0.36, 95% C.I. 0.18-0.72) that persisted after adjustment for maternal race/ethnicity and education. Also, no specific types of NTDs or NTDs with specific defects explained the risk reduction with vitamin use. These data suggest that multivitamins reduce the risk of nonsyndromic NTD cases associated with other major birth defects. The implication of this finding for the role of vitamins in the prevention of non-NTD birth defects should be further explored.

Abnormalities, Multiple↗

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C-->T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C-->T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗