Fetal alcohol syndrome: an undiluted danger.

For a pregnant woman, drinking alcohol can produce a spectrum of effects on the fetus, ranging from full-blown fetal alcohol syndrome to mild behavioral and cognitive delays. This clinical spectrum of findings related to alcohol exposure has resulted in the broad current term, fetal alcohol spectrum disorders.

Fetal alcohol syndrome (FAS) is the leading preventable and identifiable cause of mental retardation in the United States. FAS rates range from 0.2 to 1.5 per 1,000 live births in the United States, and fetal alcohol spectrum disorders (FASD) are believed to occur approximately three times as often as FAS, according to the Centers for Disease Control and Prevention. Studies have documented FAS rates as high as 3-5 children per 1,000 in some disadvantaged groups, Native Americans, and other minorities.

The diagnosis of FAS is relatively easy for trained medical personnel to make. It is based on a history of maternal alcohol use during pregnancy and on characteristic facial features, including microcephaly (defined as head circumference below the 10th percentile for age); short palpebral fissures; a smooth, flat philtrum; and a thin upper lip. Two diagnostic criteria commonly used for children who are potentially affected by fetal alcohol exposure are the University of Washington, Seattle, criteria (http: / / depts.washington.edu / fasdpn/pdfs/guide99.pdf), and the Institute of Medicine criteria (http://www.guideline.gov / summary / summary, aspx?ss=15 &doc_id=5960&nbr=3922).

Central nervous system neurodevelopmental abnormalities can include seizures, visual motor difficulties, structural abnormalities (particularly in the corpus callosum, cerebellum, or basal ganglia), and decreased performance in multiple domains on standardized measures of cognition or intelligence.

Other characteristics of children with FAS include cardiac defects, renal problems, myopia, and malformation of the eustachian tubes leading to frequent ear infections.

It is important to note that not all children who are exposed to alcohol in utero act or look the same. Physical features of intrauterine alcohol exposure may be subtle or absent in children with less severe manifestations of prenatal exposure. In addition, individual dysmorphic features are not unique to FAS and may be similar to those seen in other diseases, such as Williams syndrome, Dubowitz syndrome, and toluene embryopathy. FAS-related behavioral problems also may be initially attributed to attention-deficit / hyperactivity disorder or oppositional defiant disorder. This creates a diagnostic challenge for pediatricians, and can result in cases of FAS or FASD going undetected or misdiagnosed.

No studies have determined what amount of alcohol exposure results in adverse effects in children. However, the following are known: Alcohol meets all criteria for being a teratogen, there is a dose-response relationship, and women who are long-term alcoholics are at greater risk of having a child with FAS.

What surprises many clinicians and parents--perhaps because of the intense media spotlight that shines on illicit drugs--is that a biological mother's use of alcohol is more damaging to a developing fetus than is her use of other substances, even cocaine, heroin, and tobacco.

There is no specific test for FAS. The maternal history of drinking is most important, and can be difficult to obtain if a child is in foster care. Birth mothers, in general, are forthcoming if they are asked in the context of a perinatal history and in a nonjudgmental way.

Behavioral and mental health assessments are useful, as these children are often brought to the pediatrician because, even though they may be keeping pace with their peers, their functional skills or IQ levels are in the moderately deficient range. They often don't understand social cues or general rules of hygiene, and it is difficult for them to learn from past experiences. This is particularly evident during the preschool period (at about age 3 years) when hyperactivity can become a problem, and again at around age 6-7 years.

Once a disorder has been diagnosed, medication management can be complex. There is no specific treatment for FAS, although physical abnormalities such as atrial septic defects can be repaired with surgery. If the child presents with ADHD symptoms, the first-line treatment is stimulant medication. Often one stimulant is not enough. Children with anxiety, or with severe disruptive or explosive behavior, may require mood stabilizers. The best approach is to tailor therapy to the individual child and family environment, and to have a comprehensive plan at home, in school, and in the community. Parents and family members should be educated on how best to discipline and manage their child, so that expectations are appropriate for the child's developmental and cognitive level.

Once the exposure has occurred, numerous studies have shown that early intervention is beneficial. As a general rule, children diagnosed before age 6 years tend to do better. The pediatrician is ideally placed to identify children with FAS / FASD at an early age and to serve as the catalyst for obtaining comprehensive, lifelong services. Attention also should be given to families with other at-risk siblings.

We have made tremendous strides in our understanding of FAS and FASD, and information continues to be discovered on the full range of central nervous system problems related to alcohol exposure in utero. The public knowledge of the dangers of alcohol consumption during pregnancy has improved. Pediatricians, as a whole, are more comfortable with using a variety of medications to treat emotional and behavioral disorders in these children. However, one misperception that still lingers is the underestimation of the life-long need for comprehensive services for individuals with FAS. Only through early diagnosis and long-term intervention can we change the life trajectory of a child born with FAS or FASD toward a more hopeful future.

BY HAROLYN BELCHER, M.D.

DR. BELCHER is a neurodevelopmental pediatrician and director of research at the Kennedy Krieger Institute Family Center, Baltimore, where her range of research interests includes the study of the effect of intrauterine drug exposure on the developing child and increasing the understanding of the neurologic, emotional, and treatment outcomes of children with violence and maltreatment exposure. Dr. Belcher reported no relevant conflicts of interest.

An international leader in the fields of research, treatment and education for disorders and injuries of brain and spinal cord, Kennedy Krieger Institute provides a wide range of services to over 13,000 children each year with developmental concerns mild to severe. For more information, visit www.kennedykrieger.org.