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The potential of micronutrients to ameliorate the impact of prenatal alcohol exposure (PAE) on attentional regulation skills was explored in a randomized clinical trial conducted in Ukraine. Women who differed in prenatal alcohol use were recruited during pregnancy and assigned to one of three groups [No study-provided supplements, Multivitamin/Mineral Supplement (MVM), or MVM plus Choline]. Their offspring were seen in the preschool period and a reaction time task was administered. Participants were asked to press a response button as quickly as possible as 30 stimuli from the same category (animals) were presented consecutively and then followed by six stimuli from a novel category (vehicles). Number correct, mean latency of the response over trials, and variability in the latency were analyzed separately by sex. During the initial animal trials, boys whose mothers received MVM during pregnancy had more correct responses and reduced response latency compared to boys whose mothers had no MVM treatment. During vehicle trials, maternal choline supplementation was associated with increased response speed in males without a PAE history. Females receiving supplements did not show the same benefits from micronutrient supplementation and were more adversely impacted by prenatal alcohol exposure. Relationships between maternal levels of choline, betaine, and dimethylglycine (DMG) and task performance were also assessed. Although no effects were found for choline after adjusting for multiple comparisons, lower baseline DMG level was associated with greater accuracy and shorter latency of responses in the initial animal trials and shorter latency in the vehicle trials in female preschoolers. Level of betaine in Trimester 3 was associated with reduced variability in the latency of male responses during the animal trials. Maternal micronutrient supplementation in pregnancy appears to improve preschool reaction time performance, but the effects varied as a function of sex and PAE exposure status.

The potential of micronutrients to ameliorate the impact of prenatal alcohol exposure (PAE) was explored in a clinical trial conducted in Ukraine. Cardiac orienting responses (ORs) during a habituation/dishabituation learning paradigm were obtained from 6 to 12 month-olds to assess neurophysiological encoding and memory. Women who differed in prenatal alcohol use were recruited during pregnancy and assigned to a group (No study-provided supplements, multivitamin/mineral supplement, or multivitamin/mineral supplement plus choline supplement). Heart rate was collected for 30 s prior to stimulus onset and 12 s post-stimulus onset. Difference values (∆HR) for the first 3 trials of each condition were aggregated for analysis. Gestational blood samples were collected to assess maternal nutritional status and changes as a function of the intervention. Choline supplementation resulted in a greater ∆HR on the visual habituation trials for all infants and for the infants with no PAE on the dishabituation trials. The latency of the response was reduced in both conditions for all infants whose mothers received choline supplementation. Change in gestational choline level was positively related to ∆HR during habituation trials and levels of one choline metabolite, dimethylglycine (DMG), predicted ∆HR during habituation trials and latency of responses. A trend was found between DMG and ∆HR on the dishabituation trials and latency of the response. Supplementation did not affect ORs to auditory stimuli. Choline supplementation when administered together with routinely recommended multivitamin/mineral prenatal supplements during pregnancy may provide a beneficial impact to basic learning mechanisms involved in encoding and memory of environmental events in alcohol-exposed pregnancies as well as non- or low alcohol-exposed pregnancies. Changes in maternal nutrient status suggested that one mechanism by which choline supplementation may positively impact brain development is through prevention of fetal alcohol-related depletion of DMG, a metabolic nutrient that can protect against overproduction of glycine, during critical periods of neurogenesis.

Objective: To define the DNA mutation causing neurofibromatosis 2 (NF2), a severe genetic disorder involving the development of multiple nervous system tumors in adulthood, in a large, well-studied NF2 pedigree previously used to chromosomally map and to isolate the disease gene.Design: Single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the NF2 gene amplified from affected and unaffected family members.Participants: Affected, unaffected, and at-risk members of a large pedigree segregating NF2, an autosomal dominant disorder caused by inactivation of the merlin tumor suppressor encoded in chromosome band 22q12.Results: A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals. The alteration caused substitution of a tyrosine for an asparagine at position 220 of the merlin protein, in a region highly conserved in closely related members of the family of cytoskeletal-associated proteins. The DNA change could also be detected by restriction enzyme digestion with Rsa I.Conclusion: Current practice dictates screening of all those "at risk" for NF2 with magnetic resonance imaging, but the frequency and duration of screening are problematic because of the variable course of the disease. The identification of a DNA alteration in the NF2 gene will permit predictive molecular testing of individuals at risk in this specific family, sparing the expense and emotional burden of protracted screening programs. This information, by providing diagnostic certainty, should also reduce psychological and financial burdens and improve medical care for affected family members. A similar approach to defining the underlying lesion and developing a predictive test is applicable in any documented NF2 family. [ABSTRACT FROM AUTHOR]

A survey of 302 physicians from Colombo, Sri Lanka, reveals a strong overall acceptance of genetic counselling, prenatal diagnosis of genetic disorders and therapeutic abortion. Demographic and experiential factors, especially being older and having children, were associated with acceptance of genetic services. There was little support for prenatal diagnosis in order to satisfy curiosity about the sex of the fetus. The results of this analysis were compared to those from a study of physicians in Arizona, USA. [ABSTRACT FROM PUBLISHER]

The effect of educational activities, distance from a genetic centre, and presence of satellite clinics on the growth in genetic services in three regions served (south Alabama, west Florida and southeast Mississippi) was examined. Comparisons of growth trends between the three regions were made in the context of regional differences in clinical and educational variables. Multiple regression analyses of growth in clinical services with these variables were also performed. Results demonstrated that growth in clinical services is greatly enhanced when educational activities are offered in concert with the establishment of a satellite clinic. [ABSTRACT FROM AUTHOR]