Microcephaly

Definition

Fetal alcohol syndrome (FAS) is a group of birth (congenital) defects occurring in an infant as a result of maternal alcohol abuse during pregnancy.

Description

Fetal alcohol syndrome was first recognized and identified in 1968. It is currently the leading cause of mental retardation in western civilization, outranking Down Syndrome. In the United States, more than 5,000 infants are diagnosed each year. It is 100% preventable but has no cure.

Congenital effects associated with FAS include:

• Neurologic abnormalities: mental retardation (average I.Q. of 63), small head (microcephaly), problems with movement (motor retardation), poor muscle tone, and hearing disturbances.
• Facial abnormalities: small eyes and/or short eye openings (palpebral fissures), underdevelopment of the upper lip, and flattening of the upper lip ridges (flat philtrum).
• Growth disturbances: small size and weight with growth lag before and after birth.
• Behavioral disturbances: infant irritability, childhood hyperactivity, and attention deficit.
• Cardiac defects: heart murmur, which may subside by one year of age, and heart defects, including ventricular or atrial septal defect.

Causes & symptoms

The cause of FAS is alcohol abuse during pregnancy. The exact amount of alcohol consumption causing FAS has not been identified; however, binge drinking is known to be very harmful. Drinking during the first trimester has been linked to congenital defects, while drinking in the last trimester is known to result in premature birth and low birth weight. FAS occurs among people of all social and economic backgrounds.

Infants born to women who drink heavily during pregnancy show the most signs of FAS. Infants born to heavy drinkers have a 50% risk of harmful effects, while infants of moderate drinkers are at a 10% risk. It is not uncommon for children to be diagnosed later in childhood when there is a noticeable lag in school performance, and possibly hyperactivity and attention deficit.

Children and adults of women with a history of alcohol abuse during pregnancy may display behavioral problems, thinking and reasoning (cognitive) deficits, and psychological and social disturbances without facial abnormalities or growth retardation. These individuals are frequently diagnosed with fetal alcohol effects (FAE).

Low birth weight and preterm delivery may be seen in infants of women who used alcohol in low to moderate amounts during pregnancy.

Diagnosis

Diagnosis of FAS is most often made by a genetic specialist. Diagnosis is made by looking for a history of alcohol use by the mother; reviewing the baby's growth before and after birth; examining physical facial characteristics; and assessing behavioral problems, attention deficit, and speech problems. Tools for the accurate diagnosis of FAS are being developed. Some cases remain undiagnosed for many years.

Treatment

Ideally, women planning to become pregnant should stop drinking several months before the pregnancy. Women who are pregnant should stop drinking as soon as possible in their pregnancy. The highest risk to the developing fetus is in the first trimester; however, heavy drinking at later stages of pregnancy can also cause serious harm. Discontinuing alcohol consumption even as late as the last trimester of pregnancy show improved outcomes for the infant. During the last trimester, the fetus normally has the greatest brain growth.

Fetal alcohol syndrome is completely preventable. The treatment of FAS is in response to symptoms. For example, cardiac defects can be treated surgically. Early diagnosis is essential for optimal treatment of behavioral related problems. Motor and speech issues may be addressed by developmental specialists including physical, speech, and occupational therapists. Problems with hearing and vision are followed up by medical specialists.

Prognosis

Prognosis depends on the degree of mental and neurological development, as well as the timing of diagnosis, and family and social support. Many children with FAS are placed in adoptive or foster homes by age five. Family support and interaction is crucial for promoting more positive outcomes. FAS is a life-long illness with no cure.

Follow up studies in a group of adolescents with an age of 18 showed that the average academic functioning was at a fourth-grade level. Deficits in arithmetic were common. Additionally, adolescents in the group studied displayed poor judgment and were easily distracted.

Prevention

FAS is completely preventable with the avoidance of alcohol during pregnancy. No one knows exactly how much alcohol is harmful. Ideally, women planning to conceive should stop drinking prior to becoming pregnant. Most specialists and researchers agree that the best prevention is complete abstinence of alcohol use during pregnancy.

Family and community education is necessary to prevent FAS. Obstetricians should get a complete history of maternal alcohol use and promote prenatal education. Although most obstetric providers ask about the use of alcohol in pregnancy, few probe in depth.

FAS is a public health issue. Currently, warnings are placed on the labels of alcoholic beverages, but research shows that alcoholics and heavy drinkers frequently ignore these warnings. Many states have made public education of alcohol use in pregnancy a priority.

Key Terms

Congenital

Present at birth.

Further Reading

For Your Information

Books

• Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human Malformation. W.B. Saunders Company, 1997.
• Wong, Donna L. Whaley & Wong's Essentials of Pediatric Nursing. St. Louis: Mosby, 1993.
• Wong, Donna L. Whaley & Wong's Nursing Care of Infants and Children. St. Louis: Mosby, 1995.

  Periodicals

• Ellhassone, S.B., D.M. Purohet, and J.J. Ferlauto. "Maternal Use of Alcohol During Pregnancy is a Risky Lifestyle." JSC Medical Association (March 1996): 128-132.
• "Fetal Alcohol Syndrome Fetal Alcohol Effects." American Academy of Pediatrics (May 1993):1004-1006.
• Hanlin, J.R., et al. "Heeding the Alcohol Beverage Warning Label During Pregnancy: Multiparae vs. Nulliparae." Journal of the Study of Alcohol (March 1996): 171-177.
• Johnson, V.P., et al. "Fetal Alcohol Syndrome: Craniofacial and Central Nervous System Manifestations." American Journal of Medical Genetics (February 1996): 329-339.

  Organizations

• March of Dimes. 1275 Mamaroneck Avenue, White Plains, NY 10605. (914) 428-7100.

Gale Encyclopedia of Medicine. Gale Research, 1999.