Fetal Alcohol Syndrome Health Article

Diagnosis

FAS is a clinical diagnosis, which means there are no blood, x ray, or psychological tests that can be performed to confirm a suspected diagnosis. The diagnosis is made based on the history of maternal alcohol use, and detailed physical examination for the characteristic major and minor birth defects, and characteristic facial features. It is often helpful to examine siblings and parents of an individual suspected of having FAS, either in person or by photographs, to determine whether findings on the examination might be familial, or if other siblings may also be affected. Sometimes, genetic tests are performed to rule out other conditions that may present with developmental delay or birth defects. Individuals with developmental delay, birth defects, or other unusual features are often referred to a clinical geneticist, developmental pediatrician, or neurologist for evaluation and diagnosis of FAS. Psychoeducational testing to determine IQ and the presence of learning disabilities may also be part of the evaluation process.

Treatment

There is no treatment for FAS that will reverse or change the physical features or brain damage associated with maternal alcohol use during pregnancy. Most of the birth defects associated with prenatal alcohol exposure, however, are correctable with surgery. Children with FAS should have psychoeducational evaluation to help plan appropriate educational interventions. Common associated diagnoses, such as ADHD, depression, or anxiety should be recognized and appropriately treated. Disabilities that present during childhood persist into adult life; however, some of the secondary disabilities may be avoided or lessened by early and correct diagnosis, better understanding of the life-long complications of FAS, and appropriate intervention. Streissguth has described a model in which an individual affected by FAS has one or more advocates to help provide guidance, structure, and support as the individual seeks to become independent, successful in school or employment, and develop satisfying social relationships.

Prognosis

The prognosis for FAS depends upon the severity of birth defects and brain damage present at birth. Miscarriage and stillbirth, or death in the first few weeks of life, may be outcomes in very severe cases. Some factors that have been found to reduce the risk of secondary disabilities in FAS individuals include diagnosis before the age of six years; stable and nurturing home environments; never having experienced personal violence; and referral and eligibility for disability services. The long-term data help in understanding the difficulties that individuals with FAS encounter throughout their lifetime, and can help families, caregivers and professionals provide care, supervision, education, and treatment geared toward their special needs.

Health care team roles

Pediatricians, obstetricians, family physicians, or nurse practitioners are most likely to make an initial diagnosis of FAS. A clinical geneticist, developmental pediatrician, or neurologist often confirms an initial diagnosis. Other physicians and surgeons may monitor and treat an affected baby. Nurses provide supportive care. Therapists provide support for parents of babies with FAS.

KEY TERMS

Cleft palate—An abnormal opening in the roof of the mouth, usually in the midline, so that there is a communication between the nose and mouth cavities.

Congenital—Present at the time of birth.

IQ—Abbreviation for Intelligence Quotient. Compares an individual's mental age, as measured by a test, to a true or chronological age and multiplies that ratio by 100.

Microcephaly—Small head circumference. Head circumference is an indirect measure of brain size.

Miscarriage—Spontaneous pregnancy loss.

Placenta—Organ unique to mammals that serves to exchange nutrients and waste between the maternal and fetal circulations; sometimes called the afterbirth.

Strabismus—Failure of the eyes to move together when focusing on an object; sometimes called lazy eye.

Teratogen—Any drug, chemical, maternal disease, or exposure that can cause physical or functional defects in the embryo or fetus of the exposed mother.

Prevention

Prevention of FAS is the key to effectively addressing the problem. Prevention efforts must include public education efforts aimed at the entire population, not just women of childbearing age; appropriate treatment for women with high-risk drinking habits; and increased recognition and knowledge about FAS by professionals, parents, and caregivers.

BOOKS

Abel, Ernest L. Fetal Alcohol Abuse Syndrome. Norwood: Plenum Publishing Corp., 1998.

Institute of Medicine. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: National Academy Press, 1996.

Jones, Kenneth L. Smith's Recognizable Patterns of Human Malformation, 5th ed. Philadelphia: W.B. Saunders, 1997. 555-559.

Kleinfeld, Judith, Barbara Morse, and Siobhan Wescott. Fantastic Antone Grows Up: Adolescents and Adults With Fetal Alcohol Syndrome. Fairbanks, AK: University of Alaska Press, 2000.

Streissguth, Ann, Jonathan Kanter, and Mike Lowry. The Challenge of Fetal Alcohol Syndrome: Overcoming Secondary Disabilities. Seattle, WA: University of Washington Press, 1997.

Streissguth, Ann. Fetal Alcohol Syndrome: A Guide for Families and Communities. Baltimore, MD: Paul H. Brookes Publishing Co. 1997.