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Fetal alcohol syndrome, or FAS, refers to a consistent pattern of birth defects found in some individuals whose mothers drank alcohol during their pregnancy. It is the most devastating outcome of prenatal alcohol exposure. Fetal alcohol effects (FAE) refers to a condition in which fewer of the elements of FAS are present.

FAS is permanent and cannot be reversed or cured, although some aspects may change as a child grows or be ameliorated with proper environments. Small physical size often remains throughout life, beginning with low birth weight and short length at birth. Some characteristics may seem to change as the child grows; for example, some of the characteristic facial features of FAS can become less obvious. However, other problems worsen with age. For example, academic difficulties may not be noticeable until early school age, and some behavioral problems are manifested during the teenage years.

Multiple mechanisms may be involved in the way alcohol affects the fetus. Alcohol interferes with the development and function of nerve cells and can result in cell death. Alcohol consumption can act indirectly by affecting blood flow from the mother to the fetus. In that respect, acetaldehyde, a by-product of the metabolism of alcohol, may be a contributing factor to FAS, although alcohol is the primary cause. No single mechanism has been found to be the sole cause; instead, there appear to be numerous mechanisms, sites, and risk factors.

ETIOLOGY OF FAS

For well over a century, artists and popular writers have depicted disabilities among the children of alcoholic mothers, but, until the 1960s, medical professionals believed that the placenta acted as natural barrier to toxic substances. It is now known that alcohol is a teratogen that is, it causes malformations in the developing embryo. Scientific knowledge changed when French (Lemoine et al., 1968) and American researchers (Jones and Smith, 1973; Ulleland, 1972) reported on patterns of malformations in infants born to mothers who drank excessively. Since then, over 6,000 journal articles have reported research describing the prenatal effects of alcohol, with the cumulative evidence leaving little doubt regarding the adverse outcomes of heavy alcohol exposure. Longitudinal studies following children and adults with FAS since the 1970s have been descriptive of the physical, cognitive, and behavioral characteristics. Other animal and human studies have examined specific aspects, such as precise areas of brain damage, and the effects of moderate alcohol use.

DIAGNOSIS AND DESCRIPTION OF FAS/FAE

FAS requires a medical diagnosis. Both Astley and Clarren (1997) and the Institute of Medicine (Stratton et al., 1996) have written criteria for diagnosis. Each includes as criteria: (1) known prenatal alcohol exposure; (2) growth deficiency;(3) characteristic facial features such as narrow upper lip, short palpebral fissures (eye openings), and indistinct philtrum (grove above upper lip); and (4) central nervous system involvement. The diagnosis of FAE requires confirmation of maternal alcohol use, along with fewer other criteria. Both sets of criteria also consider a diagnosis of FAS and FAE without confirmation of maternal alcohol use, which is less certain since many of these outcomes can have other causes. The term "partial FAS" has been suggested as a replacement of FAE, although others realize a continuum of effects, and prefer the term "FAS/FAE." Related terms are "alcohol-related birth defects" (ARBD), which refers to any defect caused by alcohol, and "alcohol-related neurodevelopment disorder" (ARND), which refers to neurodevelopmental problems. These conditions may not warrant a diagnosis of either FAS or FAE.

FAE should not be considered less severe, since the behavioral or learning problems can cause lifelong difficulties. FAE often goes undiagnosed in the absence of the more readily identifiable physical characteristics.

BEHAVIOR AND COGNITIVE OUTCOMES

Extensive and serious behavioral and cognitive abnormalities are associated with FAS/FAE. These characteristics result from prenatal brain damage and cannot be reversed, although with proper care many problems can be lessened. For example, many children with FAS/FAE become uncontrollable with too many audible and visual stimuli, including bright colors, competing noises, and many people around them. Altering the environment can help reduce these problems. Another common characteristic is the inability to learn from past experiences, and parents have found that pictorial reminders of daily routines help reduce frustrations for both the child and caregivers.

Some outcomes of prenatal heavy alcohol use are noticeable at infancy, including sleep disturbances and fine motor dysfunction. During pre-school years, fitful sleeping and lack of coordination persist, and other problems develop, especially attention deficit disorder, hyperactivity, and impulsivity, which may result in an individual being more accident-prone. Hypersensitivity to touch is also common. Social problems often seen in children with FAS/FAE include an inability to distinguish friends from strangers, difficulty in forming friendships, and being overly friendly with adults. Overly talkative behavior is characteristic and is often confused with good language abilities, but there may be little meaningful content. Many children have low thresholds for frustration, have frequent temper tantrums, and demand constant attention and supervision. These characteristics, and others, are commonly described in children with FAS/FAE, although every child may not have these characteristics. For school-aged children, the most frequently reported and specifically studied behavioral characteristics are attention deficit, hyperactivity, and impulsivity, which Mattson and Riley (1998) have called the "hallmark features" of FAS/FAE.

Another serious consequence of prenatal heavy alcohol exposure is the very high prevalence of mental retardation. However, some children with FAS/FAE have IQs within the normal range, although those with the most severe facial abnormalities and growth retardation are most likely to have learning problems. The range of IQ scores is higher amongst those with FAE than those with FAS. Many children have difficulties with language and mathematics. For adolescents and adults, the earlier cognitive and behavioral problems persist and new problems arise.

People with FAS/FAE are often accused of lying, although more often their stories change in order to please the listener. Typically, they seem unable to appreciate the consequences of their actions. They are often accused of behaviors such as stealing, although in reality they may take things because of an inability to see a connection between an item and its owner. Abstract reasoning and problem-solving skills also pose difficulties.

Understanding these common characteristics allows those working or living with people with FAS/FAE to realize that they are not necessarily prone to stealing or lying, but that they have problems with reasoning, understanding concepts, and language. Secondary problems arise from these difficulties. A U.S. study found that 60 percent of people with FAS over age eleven had been in trouble with the law, and a study of the Canadian criminal justice system found that 23 percent of youths remanded for forensic assessment were found to have FAS. These rates are well above the estimated worldwide incidence rates of FAS.

PUBLIC HEALTH BURDEN

The FAS incidence rate has been derived from a number of countries and is estimated to be 0.97 per 1,000 live births in the general population. The incidence of FAE is estimated to be ten times higher than FAS. The rates vary depending on the community, with some isolated, disadvantaged communities having much higher rates. FAS/FAE is a leading cause of birth defects, and may be the most common cause of mental disabilities, more common than Down syndrome (1 per 600 live births) and spina bifida (1 per 700 live births).

Beyond numbers of cases, there is a public health burden relating to cost. Estimates have been in the millions of dollars when health care, special schooling, and other costs are tallied in caring for children with FAS.

RISK FACTORS

Not all children whose mothers drank heavily during pregnancy have FAS. The extent and type of alcohol-related disabilities depend on the amount, pattern, and timing of exposure, the length of time during which the mother drank, nutrition, and other maternal health factors. Heavy alcohol exposure can come through daily drinking or drinking large amounts at one time. This refers to the pattern of drinking, and binge drinking (5 or more drinks at any occasion) is particularly risky for the fetus. Multiple maternal factors increase the likelihood of FAS, including older age, greater parity (having had previous children), and being a cigarette smoker. Poverty is considered to be a major determinant of the occurrence of FAS, and as Abel (1995) notes, "FAS is not an equal opportunity birth defect."

PUBLIC HEALTH MESSAGE

Various strategies have been used to decrease the use of alcohol during pregnancy, ranging from warning signs in places wherever alcohol is sold to midwives assisting those most at risk to improve health during pregnancy. Despite recognition of this serious birth outcome, many physicians still fail to recognize alcohol use in their patients and fail to diagnose FAS/FAE. Some medical professionals believe that until there are better treatment facilities for substance-abusing pregnant women, there is little value in identifying problem drinking. Public health messages note that women should either reduce heavy alcohol use during pregnancy or, if heavy drinking continues, delay becoming pregnant. The important aspect of FAS/FAE is that it is entirely preventable.

M. ANNE GEORGE

(SEE ALSO: Alcohol Use and Abuse; Congenital Anomalies; Maternal and Child Health; Pregnancy; Prenatal Care)