The association of pre-pregnancy alcohol drinking with child neuropsychological functioning.

OBJECTIVE: To examine the effects of pre-pregnancy alcohol drinking on child neuropsychological functioning. DESIGN: Prospective follow-up study. SETTING AND POPULATION: 154 women and their children sampled from the Danish National Birth Cohort. METHODS: Participants were sampled based on maternal alcohol consumption before pregnancy. At 5 years of age, the children were tested with the Wechsler Preschool and Primary Scale of Intelligence-Revised, the Test of Everyday Attention for Children at Five (TEACh-5), and the Movement Assessment Battery for Children (MABC). The Behaviour Rating Inventory of Executive Function (BRIEF) was completed by the mothers and a preschool teacher. Parental education, maternal IQ, prenatal maternal smoking, child's age at testing, child's sex, and maternal alcohol intake during pregnancy were considered potential confounders. MAIN OUTCOME MEASURES: Performance on the Wechsler Preschool and Primary Scale of Intelligence-Revised, the TEACh-5, the MABC, and the BRIEF. RESULTS: Intake of 15-21 drinks/week on average prior to pregnancy was not associated with any of the outcomes, but intake of ≥22 drinks/week on average was associated with a significantly lower adjusted mean full scale IQ and lower adjusted means in overall attention and sustained attention score, but not in selective attention score or any of the BRIEF index scores or MABC scores. CONCLUSIONS: Intake of ≥22 drinks/week before pregnancy was associated with lower mean full scale IQ, overall attention and sustained attention. Assessment of pre-pregnancy drinking provides additional information regarding potential prenatal alcohol exposure and its implications for child neurodevelopment.

The effects of low to moderate prenatal alcohol exposure in early pregnancy on IQ in 5-year-old children.

OBJECTIVE: To examine the effects of low to moderate maternal alcohol consumption during early pregnancy on children's intelligence (IQ) at age 5 years. DESIGN: Prospective follow-up study. SETTING: Neuropsychological testing in four Danish cities 2003-2008. POPULATION: A cohort of 1628 women and their children sampled from the Danish National Birth Cohort. METHODS: Participants were sampled based on maternal alcohol consumption during pregnancy. At 5 years of age, children were tested with the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R). Parental education, maternal IQ, maternal smoking in pregnancy, the child's age at testing, gender, and tester were considered core confounding factors, whereas the full model also controlled for maternal binge drinking, age, BMI, parity, home environment, postnatal smoking in the home, health status, and indicators for hearing and vision impairments. MAIN OUTCOME MEASURES: The WPPSI-R. RESULTS: No differences in test performance were observed between children whose mothers reported consuming between one and four or between five and eight drinks per week at some point during pregnancy, compared with children of mothers who abstained. For women who reported consuming nine or more drinks per week no differences were observed for mean differences; however, the risks of low full-scale IQ (OR 4.6; 95% CI 1.2-18.2) and low verbal IQ (OR 5.9; 95% CI 1.4-24.9) scores, but not low performance IQ score, were increased. CONCLUSIONS: Maternal consumption of low to moderate quantities of alcohol during pregnancy was not associated with the mean IQ score of preschool children. Despite these findings, acceptable levels of alcohol use during pregnancy have not yet been established, and conservative advice for women continues to be to avoid alcohol use during pregnancy.

The effect of alcohol binge drinking in early pregnancy on general intelligence in children.

OBJECTIVE: To examine the effects of binge alcohol consumption during early pregnancy, including the number of binge episodes and the timing of binge drinking, on general intelligence in 5-year-old children. DESIGN: Follow-up study. SETTING: Neuropsychological testing in four Danish cities 2003-2008. POPULATION: A cohort of 1617 women and their children sampled from the Danish National Birth Cohort. METHODS: Participants were sampled on the basis of maternal alcohol consumption during pregnancy. At 5 years of age the children were tested with six subtests from the Wechsler Preschool and Primary Scale of Intelligence - Revised (WPPSI-R). Parental education, maternal IQ, prenatal maternal smoking, the child's age at testing, the gender of the child, and tester were considered core confounding factors, whereas the full model also controlled for prenatal maternal average alcohol intake, maternal age, maternal pre-pregnancy body mass index (BMI), parity, home environment, postnatal parental smoking, health status, and indicators for hearing and vision impairment. MAIN OUTCOME MEASURE: WPPSI-R. RESULTS: There were no systematic or significant differences in general intelligence between children of mothers reporting binge drinking and children of mothers with no binge episodes, except that binge drinking in gestational weeks 1-2 significantly reduced the risk of low, full-scale IQ (OR 0.54; 95% CI 0.31-0.96) when adjusted for core confounding factors. The results were otherwise not statistically significantly related to the number of binge episodes (with a maximum of 12) and timing of binge drinking. CONCLUSIONS: We found no systematic association between binge drinking during early pregnancy and child intelligence. However, binge drinking reduced the risk of low, full-scale IQ in gestational weeks 1-2. This finding may be explained by residual confounding.

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.

We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In one branch of the family, cone degeneration remained the only manifestation despite advancing age. Linkage analysis mapped the disease gene in this family to 17p12-p13, a chromosome region previously linked to cone-rod dystrophy in a Swedish family (CORD5). A maximum LOD score of 3.25 (straight theta = 0.00) for marker D17S1844 was obtained. Mutation analysis of the guanylate cyclase 2D gene (GUCY2D, MIM 600179, previously called RETGC1), located at 17p12-p13, showed a missense mutation (R838C) in exon 13, that co-segregated with the eye disease in the family. Our suspicion of the possibility of an interrelationship between the Swedish CORD5 family and the present family, both originating from Northern Scandinavia, initiated the linkage analysis in the Norwegian family. The R838C missense mutation was not, however, detected in the Swedish patients, strongly suggesting no relationship between these two families. The long-term ophthalmological evaluation in this large four-generation family, combined with the identification of the disease-causing mutation, provide critical information for refining the classification, prognosis, and genetic counselling of patients with cone-rod dystrophies.

Iris fluorescein angiography and fluorescein gonioscopic photography after implantation of Choyce Mk IX anterior chamber lenses.

Patients underwent intracapsular cataract extraction and implantation of a Choyce Mk IX anterior chamber intraocular lens. At fluorescein angiography (FAG) at a mean of 8 months post-operatively, 9 showed leaking from the iridal vessels, and 3 were normal: Three cases were excluded because of factors affecting the iris FAG. At a mean of 37 months 5 still had a slight degree of leakage. No primarily negative iris FAG changed to positive later. Fluorescein gonioscopic photography (FGP) revealed leakage in 29.5% of the tips of the foot plates at a mean of 37 months. No correlation was observable between FGP and gonioscopy. The pupillary deformation quotient DQ (greatest: smallest pupillary diameter) was significantly greater at a mean of 8 months in the eyes with leakage in iris FAG than in eyes without leakage (P = 0.0145). Individually a change both in direction against normalisation and in elongation was recorded during the observation time.