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Objective: This study investigated whether there were differential effects of substantial prenatal alcohol exposure on letter and category fluency in children. Given that children with prenatal alcohol exposure are often impaired in executive functioning and that letter fluency taxes executive processes more than category fluency, it was expected that children with fetal alcohol syndrome (FAS) would be more impaired in letter than in category fluency. A second objective of the study was to examine the developmental trends in the two types of fluency in children with prenatal alcohol exposure. It was hypothesized that between the ages of 6 and 9 years, these FAS children would show age-related changes in category fluency but not in letter fluency. Method: As part of a neuropsychological test battery designed for an international collaborative study of FAS in South Africa, tests of letter and category fluency were administered in Afrikaans. The participants were 62 children with FAS and 61 controls matched with respect to age, gender (58 boys and 65 girls), ethnicity, and socioeconomic status. Results: Results showed that the FAS group had relatively greater difficulty with letter fluency than with category fluency and that the FAS group generated fewer words in both fluency conditions. Contrary to the expectation, however, alcohol-affected children demonstrated age-related linear trends in both letter and category fluency. Conclusions: This is the first study of verbal fluency involving a large sample of well-diagnosed children with FAS conducted in a nonwestern environment. The results are nonetheless consistent with those obtained in western countries in studies of children with various levels of prenatal alcohol exposure and various levels of fetal alcohol spectrum disorder. This study suggests that at least some aspects of the cognitive profile associated with prenatal alcohol exposure may be generalizable across cultural and ethnic boundaries., IT IS NOW ESTABLISHED THAT PRENATAL exposure to alcohol produces a wide range of morphological and neurobehavioral outcomes that are often referred to as fetal alcohol spectrum disorders (FASD). Neuropsychological [...]

ABSTRACT. Objective: The aim of the study was to determine the prevalence and characteristics of fetal alcohol syndrome (FAS) in a second primary school cohort in a community in South [...]

Objectives. We defined risk factors for fetal alcohol syndrome (FAS) in a region with the highest documented prevalence of FAS in the world. Methods. We compared mothers of 53 first-grade students with FAS (cases) with 116 randomly selected mothers of first-grade students without FAS (controls). Results. Differences between case and control mothers in our study population existed regarding socioeconomic status, religiosity, education, gravidity, parity, and marital status. Mothers of children with FAS came from alcohol-abusing families in which heavy drinking was almost universal; control mothers drank little to no alcohol. Current and past alcohol use by case mothers was characterized by heavy binge drinking on weekends, with no reduction of use during pregnancy in 87% of the mothers. Twenty percent of control mothers drank during pregnancy, a rate that declined to 12.7% by the third trimester. The percentage who smoked during pregnancy was higher for case mothers than for control mothers (75.5% vs 30.3%), but the number of cigarettes smoked was low among case mothers. The incidence of FAS in offspring of relatively young women (28 years) was not explained by early drinking onset or years of drinking (mean, 7.6 years among case mothers). In addition to traditional FAS risk factors, case mothers were smaller in height, weight, head circumference, and body mass index, all anthropomorphic measures that indicate poor nutrition and second-generation fetal alcohol exposure. Conclusions. Preventive interventions are needed to address maternal risk factors for FAS. doi:10.2105/AJPH.2003.037093)

Background. The adverse effects of alcohol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). The first descriptions in the modern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substantial progress has been made in developing specific criteria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for evaluation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) criteria and the Washington criteria. Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice. Objective. The purpose of this report is to present specific clarifications of the 1996 IOM criteria for the diagnosis of FASD, to facilitate their practical application in clinical pediatric practice. Methods. A large cohort of children who were prenatally exposed to alcohol were identified, through active case-ascertainment methods, in 6 Native American communities in the United States and 1 community in the Western Cape Province of South Africa. The children and their families underwent standardized multidisciplinary evaluations, including a dysmorphology examination, developmental and neuropsychologic testing, and a structured maternal interview, which gathered data about prenatal drinking practices and other demographic and family information. Data for these subjects were analyzed, and revisions and clarifications of the existing IOM FASD diagnostic categories were formulated on the basis of the results. Results. The revised IOM method defined accurately and completely the spectrum of disabilities among the children in our study. On the basis of this experience, we propose specific diagnostic criteria for fetal alcohol syndrome and partial fetal alcohol syndrome. We also define alcohol-related birth defects and alcohol-related neurodevelopmental disorder from a practical standpoint. Conclusions. The 1996 IOM criteria remain the most appropriate diagnostic approach for children prenatally exposed to alcohol. The proposed revisions presented here make these criteria applicable in clinical pediatric practice. Pediatrics 2005;115:39-47; fetal alcohol syndrome, fetal alcohol spectrum disorders, diagnostic criteria, mental retardation, developmental disabilities., ABBREVIATIONS. FASD, fetal alcohol spectrum disorders; FAS, fetal alcohol syndrome; FAE, fetal alcohol effects; ARND, alcohol-related neurodevelopmental disorder; IOM, Institute of Medicine; VCFS, velocardiofacial syndrome; ARBD, alcohol-related birth defects. The [...]

Objective: Factors associated with alcohol consumption during pregnancy and with fetal alcohol syndrome (FAS) births were examined as part of a larger epidemiologic study of FAS in a community in the Western Cape Province of South Africa. Method: Using retrospective case-control methodology, 31 mothers who had given birth to FAS children 6 to 9 years previously were compared with 31 matched controls on a variety of demographic, socioeconomic, drinking, family and maternity variables. Descriptive analyses were utilized to determine major differential characteristics between the two groups. Results: In this community with a very high rate of FAS and rather uniform low socioeconomic status, the two groups were found to be comparable with respect to age, annual income, ethnic background, age of initiation of regular drinking, age at birth of the index child, gravidity and parity. However, mothers of FAS children reported initiating drinking at an earlier age, as well as reporting higher rates of heavy alcohol consumption in their extended family, current use of alcohol, drinking before and during pregnancy, and smoking of tobacco (percentage who smoke) during each trimester of the pregnancy. Mothers of FAS children had lower educational attainment and reported lower religiosity than control mothers. Conclusions: This study in South Africa draws upon the experience of mothers of 31 children with FAS to confirm many of the same high-risk variables identified in maternal risk studies in the United States and Europe. Some factors associated with less maternal alcohol abuse in this high-risk population were also identified, which may be helpful for implementing prevention in this region as well as in other developing countries., SINCE THE FIRST recognition and documentation of fetal alcohol syndrome (FAS) as a distinct birth defect (Jones and Smith, 1973), the search for unique maternal characteristics, risk factors and protective [...]

The related genetic disorders Marfan syndrome, ectopia lentis and congenital contractural arachnodactyly may be caused by mutations in the gene for fibrillin. Fibrillin is a glycoprotein that occurs in many different types of tissues. Genetic linkage studies of 28 families with Marfan syndrome found that the syndrome was caused by mutations in the gene for fibrillin on chromosome 15. Similar studies of eight families with related genetic disorders found that ectopia lentis was caused by mutations in the fibrillin gene on chromosome 15, and congenital contractual arachnodactyly by abnormalities in the fibrillin gene on chromosome five. The genetic disorder mitral-valve prolapse was not linked to the fibrillin gene on chromosome five, and annuloaortic ectasia was not linked to the fibrillin gene on chromosomes five or 15.

A study of facial quantitative assessment is required in several clinical applications to monitor growth, plan surgery and diagnose genetic syndromes. A comparison taken of a single and a stereo photogrammetry measurement on 10 facial distances showed that a single photograph was prone to errors due to misalignment of the camera, however in a stereo photogrammetry, means and standard deviations were larger.