Screening, Assessment, and Diagnostics

Introduction

Individuals with FASD are a subset of individuals who are affected by in-utero exposure to alcohol. They are not necessarily the most severely affected individuals; they are simply the subset that can be positively identified because of their characteristic facial appearance (Clarren, S.K., & Astley, S.J. 1993). Other terms are often used to classify individuals who do not have FASD but share characteristics associated with FASD (especially central nervous system dysfunction and other cognitive abnormalities). These terms include fetal alcohol effects (FAE), static encephalopathy, neurobehavioral disorder, alcohol-related birth defects (ARBD), and alcohol-related neurodevelopmental disorder (ARND). These terms are sometimes used interchangeably. A diagnosis of alcohol-related effects may also be made with or without confirmed maternal alcohol exposure.

Fetal alcohol syndrome is a medical diagnosis usually made by a physician specifically trained in the assessment of birth defects . Other professionals often assist in identifying children with known maternal drinking histories or suspected problems. For example, nurses may be trained to recognize the facial features of children with fetal alcohol syndrome. It is important that the physician making the diagnosis is sensitive to the physical characteristics of the racial group with whom he or she is working because the physical characteristics of FASD may look slightly different among different racial groups.

Accurate diagnosis of alcohol-related effects require that the physician be qualified. Accurate identification can improve the child's opportunity to receive appropriate interventions, facilitate communication among clinicians, caregivers, and educators, and provides better self-awareness and understanding by family members.

The following information has been extracted from Ninth Special Report to the U.S. Congress on Alcohol and Health, June 1997(RP0973). Free copies of this report are available from National Clearinghouse for Alcohol and Drug Information, 1-800-729-6686.

A key concern in research and clinical practice continues to be how best to characterize and identify FASD and other ARBD arising from prenatal alcohol exposure. Research has shown that in utero alcohol exposure can produce a spectrum of harmful effects, ranging from a characteristic pattern of gross morphological anomalies and mental impairment (including mental retardation) to subtler cognitive and behavioral dysfunction. FASD is the most severe birth defect produced by in utero alcohol exposure. The terms "fetal alcohol effects" (FAE) and "alcohol-related birth defects" are used to describe individuals who exhibit only some of the attributes of FASD and thus do not fulfill the diagnostic criteria for the syndrome (Clarren and Smith 1978; Sokol and Clarren 1989). A medical diagnosis of FASD is differentiated from a "case definition" for surveillance purposes.