Fetal alcohol syndrome (FAS)

by CDC

Fetal alcohol syndrome (FAS) results from maternal alcohol use during pregnancy and carries lifelong consequences. Early recognition of FAS can result in better outcomes for persons who receive a diagnosis. Although FAS was first identified in 1973, persons with this condition often do not receive a diagnosis. In 2002, Congress directed CDC to update and refine diagnostic and referral criteria for FAS, incorporating recent scientific and clinical evidence. In 2002, CDC convened a scientific working group (SWG) of persons with expertise in FAS research, diagnosis, and treatment to draft criteria for diagnosing FAS. This report summarizes the diagnostic guidelines drafted by the SWG, provides recommendations for when and how to refer a person suspected of having problems related to prenatal alcohol exposure, and assesses existing practices for creating supportive environments that might prevent long-term adverse consequences associated with FAS. The guidelines were created on the basis of a review of scientific evidence, clinical expertise, and the experiences of families affected by FAS regarding the physical and neuropsychologic features of FAS and the medical, educational, and social services needed by persons with FAS and their families. The guidelines are intended to facilitate early identification of persons affected by prenatal exposure to alcohol so they and their families can receive services that enable them to achieve healthy lives and reach their full potential. This report also includes recommendations to enhance identification of and intervention for women at risk for alcohol-exposed pregnancies. Additional data are needed to develop diagnostic criteria for other related disorders (e.g., alcohol-related neurodevelopmental disorder).

Introduction

Prenatal exposure to alcohol during pregnancy damages the developing fetus and is a leading preventable cause of birth defects and developmental disabilities. Children exposed to alcohol during fetal development can suffer multiple negative effects, including physical and cognitive deficits. Although the number and severity of negative effects can range from subtle to serious, they are always lifelong.

Referral and diagnosis for fetal alcohol syndrome (FAS) can be made throughout the lifespan. However, the majority of persons with FAS are referred and receive a diagnosis during childhood. Thus, the terms "child" or "children" as used in these guidelines are not intended to preclude referral, assessment, and diagnosis of older persons.

Background

The effects of prenatal exposure to alcohol and basic diagnostic features of FAS were first described in 1973. In 1981, the U.S. Surgeon General issued a public health advisory warning that alcohol use during pregnancy could cause birth defects; this warning was reissued in 2004. In 1989, Congress mandated that language warning of the consequences of drinking during pregnancy be included on alcohol product labels.

Despite the known adverse effects of prenatal exposure to alcohol, children who experience these effects often do not receive a correct diagnosis or referral for diagnostic evaluation because of the absence of uniformly accepted diagnostic criteria and guidelines for referral. Early identification and diagnosis of FAS in affected persons are essential components to providing health, education, and social services that promote optimal well-being. In 2002, Congress directed CDC to 1) develop guidelines for diagnosing FAS and other negative birth outcomes resulting from prenatal exposure to alcohol, 2) incorporate these guidelines into curricula for medical and allied health students and practitioners, and 3) disseminate curricula concerning these guidelines to facilitate training of medical and allied health students and practitioners.

These guidelines represent a consensus of opinion from persons with expertise in relevant scientific and clinical fields, with input from service professionals and families affected by FAS. Information that served as the basis for the development of these guidelines was obtained from published scientific literature, clinical knowledge of participants, and the experience of families affected by FAS.

CDC staff initially identified reports and other documents that were used as the scientific basis for creating diagnostic guidelines. On the basis of this information, and in coordination with the National Taskforce on Fetal Alcohol Syndrome and Fetal Alcohol Effect (NTFFAS/FAE), other federally funded FAS programs, and nongovernment organizations concerned with FAS, CDC formed a scientific working group (SWG) of persons with expertise in research and clinical practice regarding prenatal exposure to alcohol to develop diagnostic guidelines for FAS.

Guidelines were formulated on the basis of consensus among SWG members and NTFFAS/FAE. To assist in defining the dysmorphologic features most useful for identifying persons with FAS, SWG members assembled a matrix of the major and associated dysmorphic features of non-FAS syndromes that had one or more features in common with FAS. This matrix was used to determine a combination of dysmorphic features most discriminative for FAS. To assist deliberations concerning central nervous system (CNS) abnormalities associated with FAS, persons with expertise in the science, assessment, and treatment of psychological aspects of FAS were asked to identify the CNS abnormalities and other neurobehavioral domains most common among persons affected by prenatal alcohol exposure. These responses formed the basis for discussion and the resulting guidelines for CNS abnormalities for persons with FAS.

This report summarizes the guidelines drafted as a result of the SWG's deliberations, provides recommendations for when and how to refer a person suspected of having problems related to prenatal alcohol exposure, and assesses existing practices for creating supportive environments that might prevent long-term adverse consequences associated with FAS.

Prevalence

Varied FAS prevalences (range: 0.2-1.5 cases per 1,000 live births) have been reported worldwide. Other studies that used different ascertainment methodologies have produced different estimates (range: 0.5-2.0 cases per 1,000 live births). These rates are comparable with or higher than rates for other common developmental disabilities (e.g., Down syndrome or spina bifida). On the basis of these prevalence estimates, approximately 4 million infants are born each year with prenatal alcohol exposure, and an estimated 1,000-6,000 are born with FAS.

Studies have reported consistently that > 50% of all U.S. women of childbearing age report alcohol consumption during the previous month. The majority of these women drank only occasionally, but > 13% could have been classified as moderate or heavy drinkers. In addition, 12% of women reported binge drinking (i.e., consuming five or more drinks on one occasion) during the preceding month. Approximately half of all U.S. pregnancies are unintended, and millions of women of childbearing age are sexually active while not using adequate contraception. Recent data from the Behavioral Risk Factors Surveillance System indicate that an estimated 12%-13% of U.S. women aged 18-44 years are sexually active, do not use contraception effectively, and drink alcohol frequently or binge drink, thereby putting them at risk for an alcohol-exposed pregnancy. Because data are available for all subpopulations, prevalences might be greater than these data indicate.

Fetal Alcohol Spectrum Disorder

Multiple terms are used to describe the continuum of effects that result from prenatal exposure to alcohol, including fetal alcohol effects, alcohol-related birth defects (ARBD), alcohol-related neurodevelopment disorder (ARND), and, most recently, fetal alcohol spectrum disorders (FASDs). In April 2004, the National Organization on Fetal Alcohol Syndrome (NOFAS) convened a meeting of representatives from three federal agencies (the National Institutes of Health [NIH], CDC, and the Substance Abuse and Mental Health Services Administration [SAMHSA]) and persons with expertise in the field to develop a consensus definition of FASDs. The resulting definition, which is used in this report, defined FASDs as the range of effects that can occur in a person whose mother drank alcohol during pregnancy, including physical, mental, behavior, and learning disabilities, with possible lifelong implications. As this definition indicates, multiple diagnostic categories (e.g., FAS, ARND, and ARBD) are subsumed under the term FASDs. However, FASDs is not a diagnostic category and should be used only when referring to the collection of diagnostic terms resulting from prenatal exposure to alcohol.

About the Author

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