Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders

The term fetal alcohol syndrome (FAS) refers to a constellation of physical, behavioral, and cognitive abnormalities.¹ In addition to the classic dysmorphic facial features, prenatal and postnatal growth abnormalities, and mental retardation that define the condition, approximately 80% of children with FAS have microcephaly and behavioral abnormalities.² As many as 50% of affected children also exhibit poor coordination, hypotonia, attention-deficit hyperactivity disorder, decreased adipose tissue, and identifiable facial anomalies, such as maxillary hypoplasia, cleft palate, and micrognathia. Cardiac defects, hemangiomas, and eye or ear abnormalities are also common.^3–5

The term fetal alcohol effects was developed originally to describe abnormalities observed in animal studies, but it was adopted quickly by clinicians to describe children with a variety of problems, including growth deficiency, behavioral mannerisms, and delays in motor and speech performance, who lacked the full complement of FAS diagnostic criteria. The lack of specificity and absence of definitive diagnostic criteria have made research and classification difficult, and a 1980 report from the Research Society on Alcohol suggested that fetal alcohol effects encompassed “any condition thought to be secondary to alcohol exposure in utero.”⁶ Clearly, such a definition was cumbersome and allowed for wide divergence in intepretation.⁶ The Institute of Medicine in 1996 issued a report proposing the terms alcohol-related neurodevelopmental disorder (ARND) and alcohol-related birth defects(ARBD) to describe conditions in which there is a history of maternal alcohol exposure (defined as substantial regular intake or heavy episodic drinking) and an outcome validated by clinical or animal research to be associated with that exposure.⁷ This new terminology uses a pathophysiologic basis for the diagnostic categories to describe conditions resulting from prenatal alcohol exposure (Fig 1).

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Fig. 1.

Diagnostic classification of fetal alcohol syndrome (FAS) and alcohol-related effects.*

Children with FAS, ARND, and ARBD may manifest cognitive, behavioral, and psychosocial problems that cause lifelong disabilities, although the resulting manifestations may vary with age and circumstances. Streissguth et al^5,8 traced the natural history of alcohol-affected children into adulthood and demonstrated the profound, pervasive, and persistent nature of the disorder. Abnormal cognitive functioning manifested itself in many domains, including specific mathematical deficiency, difficulty with abstraction (eg, time and space, cause-and-effect), and problems with generalizing from one situation to another. The affected persons also demonstrated poor attention and concentration skills, memory deficits, and impaired judgment, comprehension, and abstract reasoning. Behavioral issues, such as hyperactivity and impulsivity, and conduct problems, such as lying, stealing, stubbornness, and oppositional behavior, were common and were quantitatively and qualitatively different from those found in other forms of mental retardation.

None of the persons in the aforementioned study had achieved age-appropriate socialization or communication skills. Maladaptive social functioning was evidenced by their failure to consider consequences for their actions, lack of response to appropriate social cues, lack of reciprocal friendships, social withdrawal, sullenness, mood lability, teasing and bullying behavior, and periods of high anxiety and excessive unhappiness. Secondary disabilities, such as mental health problems, chemical dependency, failure to develop appropriate sexual behavior, and consequent legal problems, were also common in adults diagnosed with FAS. Current evidence suggests that while IQ scores <70 in this population increase the likelihood of such outcomes, early diagnosis and intervention may reduce the occurrence of secondary disabilities.⁹

As one of the most commonly identifiable causes of mental retardation, FAS is estimated to occur at the rate of 5.2/10 000 live births in the United States.^10–12 Higher rates are reported among selected subgroups (eg, 30/10 000 among Native Americans).^11–13 There seems to be a number of factors that determine the outcome of a pregnancy during which the mother consumes alcohol. Mills et al¹⁴ prospectively studied approximately 31 000 pregnancies in an attempt to determine how much alcohol pregnant women can consume safely. The consumption of 1 or more drinks (a drink is defined as 1.5 oz distilled spirits, 5 oz of wine, or 12 oz of beer) per day was associated with increased risk of giving birth to an infant with growth retardation. Although maternal age, parity, and health as well as specific fetal susceptibility may contribute to the infant's outcome, the potential for harm to the fetus is much stronger with large amounts of maternal alcohol consumption than with smaller amounts.¹⁵ Nevertheless, current data do not support the concept of a “safe level” of alcohol consumption by pregnant women below which no damage to a fetus will occur.

The economic effects of FAS, ARND, and ARBD based on the medical, surgical, behavioral, custodial, and judicial services required takes its toll on the individual, the family, and society. Annual cost estimates for the United States range from $75 million to $9.7 billion.¹⁶ The total lifetime cost of caring for a typical child with FAS may be as high as $1.4 million.⁵ The mental retardation related to FAS has by itself been estimated to account for as much as 11% of the annual cost of caring for all mentally retarded institutionalized residents of the United States and may account for up to 5% of all congenital anomalies.^17,18 The nonfiscal costs to families and affected children in terms of emotional and social effects are enormous.

• Copyright © 2000 American Academy of Pediatrics