Performance Improvement 1996. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment

02/01/1996

Highlights

A committee of experts was convened by the National Academy of Sciences, Institute of Medicine, to evaluate published studies on fetal alcohol syndrome (FAS) and related disorders. The committee offered new diagnostic categories to resolve confusion and thus improve diagnosis. Through recommendations for policy, research, active and passive surveillance, and enhanced prevention and treatment, the committee sought to intensify the public health response to a completely preventable group of disorders with serious developmental consequences. Recognizing that the problems of FAS and related disorders cross medical disciplines, the committee recommends establishing an interagency task force, led by the National Institute on Alcohol Abuse and Alcoholism (NIAAA), to coordinate national efforts.

Purpose

The FAS committee was responsible for enhancing the understanding of available research and clinical knowledge by reviewing and evaluating studies on FAS and related disorders with respect to diagnosis; prevalence; and effectiveness of surveillance, prevention, and treatment programs. Because of uncertainty on fetal outcome associated with moderate or low levels of maternal alcohol consumption, the committee restricted its analysis to the effects on the fetus of maternal consumption of large amounts of alcohol.

Background

As part of the Alcohol, Drug Abuse, and Mental Health Administration Reorganization Act (Public Law 102-32 1), Congress mandated a study by the National Academy of Sciences' Institute of Medicine of FAS and related disorders that result from heavy alcohol use during pregnancy. FAS is a serious disorder with physical and mental deficiencies that are costly to treat and rehabilitate and that often require long-term care. The costs of FAS and related conditions can be quite high for the individual, for the family, and for society. Alcohol's effects on the fetus are considered more severe than cocaine, heroin, and marijuana, yet this serious public health condition is rarely diagnosed and treated.

FAS and related disorders are characterized by a constellation of physical malformations, growth deficiencies, and neurodevelopmental abnormalities. The most obvious malformations are found on the face, often in the form of a flat upper lip and midface, but other malformations can be present in other parts of the body. Neuro-developmental defects include impairments in intelligence, motor skills, gait, hearing, and eye-hand coordination. Although not all FAS victims experience mental retardation, FAS is considered the most common totally preventable cause of mental retardation. Variability in the expression and permanence of these defects is dependent on numerous factors, including the amount and pattern of maternal drinking, the timing of drinking during pregnancy, and a host of biological and environmental factors before and after birth.

The incidence of FAS and related disorders appears to be 0.5 to 3 cases per 1,000 births, although the data are far from ideal, in part because of inaccuracies in diagnosis. While up to 14 percent of women drink heavily when they drink, only a small percentage of women, about 4 percent, are dependent on alcohol according to accepted clinical criteria. The rates of heavy drinking during pregnancy vary, but most studies find that less than 1 percent of pregnant women drink heavily. Although these percentages appear small in relative terms, the absolute number of women engaging in hazardous drinking is large. The annual costs of FAS and related disorders are estimated at $75 million to $9.7 billion. The great range of costs reflects uncertainty about the long-term consequences, such as the need for medical and educational interventions, as well as uncertainty about the actual incidence of FAS and related disorders.

Methods

The 14-member committee of experts reviewed and evaluated published studies on FAS and related disorders. Committee expertise included pediatrics, developmental psychology and neurology, obstetrics, nosology, teratology, epidemiology, psychiatry, and substance abuse prevention and treatment.

Findings

The committee formulated new diagnostic criteria for FAS and related disorders. The purpose of the new criteria was to capture the range of defects, both obvious and subtle, and to improve clarity, rigor, and consistency of diagnosis for clinicians and researchers. Symptoms were presented in five major diagnostic categories, with three categories describing partial characteristics of full FAS. The two categories for subtler related disorders, collectively referred to as "alcohol-related effects," are for either physical malformations or neurodevelopmental abnormalities. Alcohol-related effects are thought to occur more frequently than full-blown FAS.

Passive and active surveillance measures were compared. With passive surveillance, data are collected retrospectively through reviews of medical charts, although more expensive active surveillance in which data collection takes place prospectively through experimental protocols could identify more cases and provide superior data. The committee recognized that passive surveillance measures could be heightened but were inadequate to capture the incidences of FAS and related disorders.

Identified risk factors for maternal drinking were a major research gap. Understanding risk factors that predict drinking behavior during pregnancy was deemed vital for developing targeted prevention programs. The committee concluded that more study was needed of the psychological and social-environmental factors that lead to heavy drinking during pregnancy, including dependence on alcohol, depression, low self-esteem, family history of alcoholism, sexual abuse, other violent victimization, and dietary habits.

The committee constructed a conceptual framework for prevention that takes into account cultural, sociological, behavioral, public health, and medical disciplines. This new framework was seen as an important guide to the field, given the scarcity of prevention-related research on FAS and related disorders. The proposed prevention model is a continuum of interventions designed for targeting the general risks of all women who drink, to the specific risks incurred by some women who drink heavily during pregnancy. The committee endorsed the universal prevention message to all women that alcohol consumption should be avoided during pregnancy, although it noted a paucity of studies to determine the behavioral impact of this message.

The committee stressed that an important aspect of preventing FAS is treating the alcohol-dependent woman. There is a compelling need for studies that assess the effectiveness of specialized programs that treat pregnant women who are alcohol dependent. The committee recommended a high priority be placed on efforts to design, implement, and evaluate prevention programs that effectively guide pregnant women who drink heavily into alcohol treatment. The committee further recommended continued research on biological methods of detecting alcohol consumption by pregnant women and continued basic research in animals to elucidate mechanisms of alcohol-induced fetal abnormalities so that medications can be developed that ease the symptoms of FAS.

The availability of treatment for individuals affected by FAS and related disorders was viewed by the committee as inadequate. The committee was unable to identify specific treatment programs. Because studies have clearly shown the value of early intervention in ameliorating symptoms of other neurodevelopmental disorders, the committee stressed the importance of identifying children with FAS and related disorders as early as possible. The committee also concluded that there was inadequate and insufficient attention given to preventing secondary disabilities such as deteriorating mental health, criminal behavior, and substance abuse.

Use of Results

The committee recommended research to assess the utility, reliability, and validity of its new diagnostic criteria for FAS and related disorders. Other research recommendations included active surveillance through national surveys that are repeated at periodic intervals; identification of psychological and social-environmental risk factors to guide the development of more targeted prevention programs; and studies to determine the effectiveness of prevention and treatment programs geared toward pregnant women, families, and individuals with FAS and related disorders.

In terms of major policy recommendations, the committee embraced the Surgeon General's 1981 position of total abstinence from alcohol prior to conception and throughout pregnancy and recommended the establishment of clinical practice guidelines for treatment of children with FAS and related disorders. While recognizing that NIAAA has historically led research efforts on FAS, the committee noted that NIAAA is a small institute and FAS is a complicated and diverse problem. In the absence of a single organized discipline of health professionals with responsibility for FAS prevention and treatment, the committee recommended forming an interagency task force to coordinate national efforts. The task force, which would be spearheaded by NIAAA, would include appropriate Federal research, surveillance, and service agencies.

Agency sponsor:

National Institute on Alcohol Abuse and Alcoholism

Federal contact:

Lura Abbott, M.S.
301/443-2369
PIC ID: 6006

Performer organization:

National Academy of Sciences, Institute of Medicine, Washington, DC