Fetal Alcohol Syndrome

Abstract

1. Helen M. Thackray, MD* 2. Cynthia Tifft, MD, PhD† 1. 2. *Clinical Fellow, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD. 3. 4. †Chair, Department of Medical Genetics, Children’s National Medical Center, Washington, DC. Objectives After completing this article, readers should be able to: 1. Describe the signs of fetal alcohol syndrome in the context of in utero exposure to alcohol. 2. Describe the relationship of facial characteristics and neuorobehavioral findings in fetal alcohol syndrome with age. 3. Compare and contrast the neurobehavioral aspects of children who have fetal alcohol syndrome with children who have other diagnoses and similar intelligence quotients. 4. Delineate the causes of fetal alcohol syndrome. Alcohol is the most common human teratogen, but its significant physical and neurobehavioral effects are completely preventable. Fetal alcohol syndrome (FAS) was described initially in case reports by Lemoine in 1968 and Jones and Smith in 1973. It is a pattern of physical, behavioral, and cognitive abnormalities seen in individuals exposed to alcohol in utero. The association between these findings and maternal use of alcohol during pregnancy has been well documented, with studies in both animals and humans suggesting teratogenicity from as little as one binge drinking episode in early pregnancy. The diagnostic criteria are not a result of fetal physical dependence or addiction or the presence of alcohol in the neonate at delivery; rather, they are teratogenic effects caused by in utero exposure to alcohol in the mother’s blood. In 1996, following a congressional mandate that the Institute of Medicine and National Academy of Sciences study FAS and related birth defects, these institutions published a review of the current understanding of FAS and revised the diagnostic criteria. Despite increased awareness of this preventable birth defect, new cases continue to occur in significant numbers and are routinely under-recognized by medical personnel. It is imperative that maternal alcohol use and its sequelae be considered and addressed in daily pediatric practice. The purpose of this article is to review the diagnosis, epidemiology, management, prognosis, and prevention of FAS. FAS represents a …