Fetal Alcohol Syndrome and Fetal Alcohol Effects: A Clinical Perspective of Later Developmental Consequences

Ann Pytkowicz Streissguth    Fetal Alcohol and Drug Uni, Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington

INTRODUCTION

Alcohol is now well recognized as a teratogenic drug: prenatal exposure can cause death to the embryo and fetus, growth deficiency, malformations, and central nervous system aberrations that can last a lifetime. Whereas definitive documentation of the etiology and mechanisms comes from the experimental animal literature (see Goodlett and West, Chapter 4), the clinical literature is important in understanding the significant impact of this most widely used teratogen on our children. The epidemiologic literature is relevant for establishing public policy and guiding programs of prevention for this most preventable cause of mental retardation and developmental disability, and understanding the clinical phenomena of fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) is essential for developing appropriate treatment and intervention programs for affected children so that they can lead as productive and fulfilling lives as possible. There has been a shocking paucity of such research in the United States in the past 18 years since FAS was identified.

Fetal alcohol syndrome is generally recognized as the leading known cause of mental retardation (Abel and Sokol, 1987), surpassing Down’s syndrome and spina bifida. (Most mental retardation cannot be attributed to a specific etiology.) Precise figures on FAS are difficult to obtain, however, and it seems likely that most attempts at estimating prevalence [including those most recently proposed by Abel and Sokol (1991)] are underestimates owing to difficulties with ascertainment and identification, confusion over diagnostic criteria, and problems in making interpretations based on literature surveys, including studies of variable validity. FAS is a clinical diagnosis (see below). The term FAS does not include all individuals affected by alcohol in utero, but rather it represents one specific and identifiable end of the continuum of disabilities caused by maternal alcohol use during pregnancy.

The clinical features of FAS were independently identified in France (Lemoine et al., 1968) and the United States (Jones et al., 1973; Jones and Smith, 1973). Most of the patients described have been infants or young children, but increasingly maladaptive behaviors among adolescents with FAS (Streissguth et al., 1991) make this an important topic for further study. A systematic examination of all school-age children with only mild mental retardation (IQ 55 to 70), born in Sweden during a 2-year period, indicated that 8% were afflicted with alcohol-related disabilities (Hagberg et al., 1981a,b). A recent report involving ophthalmology examinations of this same cohort raised the proportion with suspected FAS to 10% [a larger proportion than was identified by all known genetic disorders (Hagberg et al., 1981a,b; Stromland, 1990)]. Enough is currently known to indicate that FAS is a major health problem. The fact that precise figures are not available should not dissuade us from recognizing the urgency of the need for research on the characteristics and special needs of this underserved population of disabled persons.

FETAL ALCOHOL SYNDROME AND FETAL ALCOHOL EFFECTS: DIAGNOSTIC ISSUES AND TERMINOLOGY

Fetal alcohol syndrome is diagnosed when patients have a positive history of maternal alcohol abuse during pregnancy and (1) growth deficiency of prenatal origin (height and/or weight); (2) a pattern of specific minor anomalies that includes a characteristic facies (generally defined by short palpebral fissures, midface hypoplasia, smooth and/or long philtrum, and thin upper lip); and (3) central nervous system manifestations (including microcephaly or history of delayed development, hyperactivity, attention deficits, learning disabilities, intellectual deficits, or seizures) (Clarren and Smith, 1978; Smith, 1982). Patients exposed to alcohol in utero with some partial FAS phenotype, and/or central nervous system dysfunction, but without sufficient features for a firm diagnosis of FAS or strong consideration of any alternative diagnosis, are identified as possible FAE (Clarren and Smith, 1978).

Fetal alcohol syndrome is a specific medical diagnosis usually given by a dysmorphologist, a geneticist, or a pediatrician with special training in birth defects or dysmorphology. It is not appropriately diagnosed by checklists or without a full clinical examination by a specially trained person. Unfortunately, most physicians have not received special training in syndrome identification, and as dysmorphology is a rather new field, many persons with FAS go unrecognized. This is a particular problem with regard to persons who have not been identified before puberty, as the facial features are less distinctive in adolescence and adulthood. The optimal age for making the diagnosis is between 8 months and 8 years, although the most severely affected children can be identified at birth by a skilled diagnostician. Diagnosis in the adolescent and adult is facilitated by photographs from infancy and childhood.

Fetal alcohol effects is a term used in two different ways. In the clinical sense, possible or probable FAE refers to individual children given a clinical examination who were known to be born to an alcohol-abusing mother and who have some, but not all, of the characteristics necessary for a diagnosis of the full FAS. Partial syndrome expression is not uncommon in syndromology. The words possible or probable precede the term FAE as an expression of uncertainty that the observed characteristics (in the absence of the full syndrome) are all attributable to alcohol. From the standpoint of understanding the patient’s needs, the distinction may be irrelevant. Clearly for research purposes and for making prognostications for the individual patient, the criteria used for making the diagnosis are extremely important.

Fetal alcohol effects is also a generic term used for all the “effects” or outcomes known from epidemiologic studies to be caused by alcohol (low birth weight is an example). Whereas it is clear from group studies that low birth weight is an effect associated with maternal alcohol abuse during pregnancy, it is not possible to say with any degree of certainty that low birth weight in an individual child is indeed caused by alcohol. There are, of course, many causes of low birth weight, of which prenatal alcohol exposure is only one.

Considerable confusion exists in the medical literature regarding the use of the terms FAS and FAE. It is unclear what the relationship of these clinical findings is to studies that attempt to designate children as FAS or FAE based on checklist criteria, in the absence of a full clinical examination by a qualified diagnostician. In our own experience, anomalies tallies by highly trained technicians have not correlated well with the clinical diagnosis of FAS as determined by an experienced diagnostician (unpublished data from the Seattle Longitudinal Study on Alcohol and Pregnancy (1974–1987); see also Clarren et al., 1987). We would not necessarily expect the findings from long-term studies of clinically diagnosed patients to be congruent with the findings from studies attempting to identify newborns based on anomalies tallies, particularly in view of the well-documented differences in minor anomalies among different racial groups, which are seldom discussed in the studies identifying patients with anomalies tallies.

In our opinion, the European clinicians diagnosing FAS identify children quite similar to those identified by dysmorphologists in the United States (e.g., Lemoine et al., 1968, and Dehaene et al., 1977a,b, in France; Majewski and Majewski, 1988, Spohr and Steinhausen, 1987, and Löser and Ilse, 1991, in Germany; Olegard and colleagues, 1984, in Sweden; and Gairi, 1990, in Spain). However, direct extrapolation to U.S. statistics is difficult because European clinicians often use a classification system, involving light, moderate, and severe categories of FAS which do not translate easily to the nomenclature used in the United States.

For the purposes of this chapter, the terms FAS and FAE will refer to children whose diagnoses have been established by clinical examination by persons qualified to make this diagnosis. Most of these patients were referred for clinical examinations, unless otherwise specified. This chapter will focus on later development, meaning school-age children, adolescents, and adults. Studies on the early developmental effects of alcohol (infancy or preschool ages) have been reviewed earlier (Streissguth, 1986). This chapter will also not review the literature on the broader realm of non-behavioral fetal alcohol effects deriving from epidemiologic studies, as these have been recently reviewed elsewhere (Little and Wendt, 1991; Streissguth et al., in press).

CLINICAL STUDIES OF FETAL ALCOHOL SYNDROME, FETAL ALCOHOL EFFECTS, AND CHILDREN OF ALCOHOLIC MOTHERS

Hundreds of clinical reports on individual children with FAS have appeared in the medical literature. However, only a few clinicians, mostly from Europe, have reported clinical findings on groups of school-age children with FAS/FAE or...