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Fetal alcohol syndrome: Role of the family physician
Gideon Koren, MD, FRCPC; Ronen Loebstein, MD; Irena Nulman, MD
One of my female patients drinks heavily. Although she is not planning to conceive, I worry that her lifestyle might lead to pregnancy and danger for her fetus. What do you recommend?
You should counsel your patient on effective contraception and advise her about the advantages of the various methods available.
Despite increased awareness of the effects of drug and other substance abuse over the past few decades, it was not until 1968 that Lemoine et al1 described the many ways alcohol affects developing fetuses. In 1973, Jones and Smith2 defined the complete pattern of malformations termed fetal alcohol syndrome (FAS).
The prevalence of alcohol consumption among women aged 18 to 34 years ranges from 60% to 75%, with 4% considered to be alcohol abusers or alcohol dependent.3,4 Lower prevalence has been recorded during pregnancy: 20% among adult women, and less than 1% among alcohol abusers.3 No evidence, however, indicates that the heavy drinkers are drinking any less during pregnancy. The literature on the prevalence and epidemiology of FAS is far from consistent. According to various studies, the worldwide incidence of infants with FAS ranges from 0.5 to three per 1000 births. This rate reaches 4.3% among heavily drinking mothers. Much more complicated is evaluating the incidence of infants with fetal alcohol effects (FAE), currently estimated to be two to six per 1000 births.4
Features of FAS
The main features of FAS are:
- the characteristic pattern of facial anomalies, such as short palpebral fissures and abnormalities in the premaxillary zone (long upper lip, flattened philtrum, and flat midface);
- growth retardation in at least one of the following ways: low birth weight, decelerating weight gain over time not due to malnutrition, disproportionally low weight for height; and
- evidence of central nervous system developmental abnormalities in at least one of the following ways: small cranial size at birth, structural brain abnormalities (eg, microcephaly, partial or complete agenesis of the corpus callosum), and neurologic hard and soft signs, such as impaired fine motor skills, neurosensory hearing loss, and poor eye-hand coordination.
Abnormalities in cognition, language, and behaviour might be evident also. Alcohol-related birth defects (cardiac, skeletal, renal, ocular, auditory) could contribute to establishing the diagnosis as well.
Several factors combine to complicate making a diagnosis of FAS.
Accurate establishment of alcohol exposure history. Establishing the history is one of the most difficult issues in diagnosing FAS. Patients usually are not forthright about their drinking habits nor are they necessarily able to recall the precise quantities and timing of their drinks. In the absence of a specific biomarker to detect alcohol exposure, detailed and accurate history remains a pivotal tool in establishing the diagnosis.
Diagnostic criteria for FAS. The diagnostic criteria were based on the clinical features of infants and young children. Craniofacial anomalies are often less prominent in premature infants and might disappear completely during adolescence.
Labeling a child with FAS is problematical. Labeling a child might act as a double-edged sword. On one hand, the diagnosis might validate a patient's disabilities and facilitate appropriate medical, social, and educational interventions; on the other hand, it might stigmatize patients and their families and prevent them from accessing the multidisciplinary treatment they need.
Streissguth et al5-7 studied the long-term cognitive and neurobehavioural effects of FAS. A 7.5-year follow-up study of 384 children exposed prenatally to alcohol showed that alcohol-induced brain insults affect a range of neuropsychologic and cognitive functions. Both binge and regular drinking in the period before pregnancy are associated with a specific neuropsychologic pattern that includes attention and memory deficits, both verbal and visual. A variety of process disabilities, such as poor integration and quality of responses, was noted, together with behavioural patterns such as poor social adaptability and lack of organizational skills.
Important data demonstrate the nonverbal learning deficits associated with alcohol exposure at the level of social drinking. This long-term follow up indicated that the neurobehavioural consequences of prenatal alcohol exposure are not attenuating with age, further emphasizing the importance of early diagnosis and intervention.8
Physicians caring for infants and children sometimes fail to suspect the diagnosis because they do not know about FAS and FAE or because an accurate history of the mother's drinking is not available. Of equal concern is the fact that very few centres nationwide offer full diagnostic capability, including focused neurodevelopmental testing.
Fetal alcohol effects
Although investigation initially focused on FAS, it is now recognized that FAS represents only a small part of a much larger clinical and social problem termed FAE. The classic triad for diagnosing FAS described by Jones and Smith2 does not refer to neurobehavioural abnormalities. Even as awareness of FAS grew, clinicians faced many patients exposed in utero to various amounts of alcohol who did not have the classic features but who did have a variety of neurobehavioural abnormalities. Jones and Smith proposed a new term, FAE. It refers to the behavioural and cognitive problems of children exposed to alcohol in utero who lack the typical diagnostic features of full-blown FAS. Because of difficulties in measuring exposure to alcohol and in quantifying behavioural and cognitive problems, the exact definition of FAE is controversial, despite the term's current wide use.
Investigation of children with FAE has demonstrated that they have better cognitive abilities than those with FAS, but their behavioural functions, especially social adaptability, are similar. The combination of better cognition with poor social adaptability leads these children to disruptive behaviour in school, inappropriate sexual behaviour, drug problems, delinquency, dependent living, and unemployment, all of which have been termed secondary disabilities.9 Among the many factors examined, only intelligence quotient score below 70 and early diagnosis (before age 6) were shown to be strong protective factors against development of those secondary disabilities.9 Early diagnosis and appropriate intervention might change the appearance and course of secondary disabilities but not primary disabilities, which most probably are not influenced by intervention.
Prevention of secondary disabilities
Physicians should intervene as early as possible with children with FAS or FAE to prevent development of secondary disabilities. Efforts to prevent secondary disabilities should involve coordinating several levels of diagnosis and intervention to maximize the child's postnatal development. It is important to recognize that, although the main harmful effects of alcohol occur in utero, a great deal of neurologic development occurs after birth. Some progress can be made by using techniques geared to meeting the special needs of children with FAS and FAE. Screening development of children in high-risk groups and early intervention with medical, speech, physical, emotional, and social services for both affected children and their parents have been demonstrated to be effective.10
While prevention and treatment of mothers' alcohol abuse are extremely difficult and often unsuccessful, effective contraception is a more tangible measure of primary prevention of fetal alcohol exposure. Young, sexually active women who abuse alcohol often engage in unplanned and unprotected sex. When effective contraception is desired, but compliance with oral contraceptives is unreliable, injection of medroxyprogesterone acetate (Depo-Provera) or using the implantable preparations of these hormones (eg, Norplant) can provide reversible contraception for up to 5 years.11 Using an intrauterine device should be considered also. Family physicians should take a leading role in making effective contraception available to all women known to abuse alcohol.
Once heavy drinking during early pregnancy has been diagnosed, physicians should discuss fetal risks with the woman and her family in the same way other risks are discussed. Some women will choose to terminate pregnancy. While such a decision is a woman's responsibility, physicians have a serious obligation to inform women accurately about fetal risks. It is important that everything possible be done to ensure discontinuation of drinking if a woman chooses to continue with a pregnancy and to ensure successful follow up after delivery.
Alcohol-related fetal effects are among the most common causes
of mental retardation and other forms of congenital brain injury. They
can be prevented completely at the primary level. As a community of
physicians, we must struggle to prevent this tragedy. We must get
better at suspecting and diagnosing FAS and its effects in infants,
children, and adolescents. We must provide better counseling for
parents with drinking problems, and counsel adolescents better about
drinking and family planning. We must adopt more effective strategies
for preventing pregnancy. We must be better advocates for children with
FAS and FAE and help them find support systems geared to meet their