Fetal Alcohol Spectrum Disorder: How to Recognize the Various Manifestations

Fetal Alcohol Spectrum Disorder: How to Recognize the Various Manifestations

ABSTRACT: Fetal alcohol spectrum disorder (FASD) can be identified at birth by the presence of 1 or more of the 3 diagnostic criteria for fetal alcohol syndrome (growth deficiency, facial features, and CNS involvement) and the disclosure of prenatal alcohol consumption. The fetal alcohol syndrome face diagnostic screening tool (short palpebral fissures, smooth philtrum, and thin upper lip) is useful in the assessment of children with suspected FASD. It becomes more difficult to identify FASD by facial features alone in adolescence. Identification in older children is primarily based on the presence of neurobehavioral patterns and cognitive difficulties in the school setting.

Each year, fetal alcohol spectrum disorder (FASD) affects about 40,000 infants born in the United States.1 FASD is an umbrella term used to encompass the range of effects seen in infants and children whose birth mother drank alcohol or consumed alcoholcontaining products during pregnancy. These effects include a specific craniofacial phenotype, neurological impairment, behavioral abnormalities, and learning disabilities.1,2

Because of the life-long insult to the child, prenatal alcohol exposure continues to be a substantial public health concern. The financial burden of FASD is also significant; the lifetime cost is estimated to be about $1.5 million per affected child.3 Thus, prevention by educating women of childbearing age on the teratogenic impact of alcohol consumption before and during pregnancy is essential.

Here I will provide an overview of the clinical and neurodevelopmental features and behaviors in children with FASD. I will also present a case study that illustrates the range of manifestations in 2 sisters with prenatal alcohol exposure.


No clearly defined dose-response relationship has been determined between the amount of maternal alcohol consumption during pregnancy and the potential degree of impairment to the newborn. Alcohol crosses the placental barrier into the amniotic fluid with ease and is a well-known teratogen. Prenatal alcohol exposure is currently the leading known cause of mental retardation and behavioral teratogenesis in humans and affects all socioeconomic groups, races, and ethnicities.4

Certain maternal factors and patterns of maternal alcohol consumption during pregnancy play roles in the degree of fetal impact. The risk of FASD is greater in older mothers, women of high parity, women of compromised nutritional status, and women who previously had a child with FASD. Mothers of African American or Native American ethnic background are at greater risk for having a child with FASD (see the CDC's State-Specific Weighted Prevalence Estimates of Alcohol Use Among Women Aged 18 – 44 Years).3

Maternal polymorphisms of alcohol dehydrogenase, the enzyme responsible for the metabolism of alcohol, also play a role in determining the rate of alcohol metabolism and the impact on the fetus. Whether the mother was a binge drinker (consumed 4 or more alcoholic drinks at one sitting) or drank 1 alcoholic drink per day is also a factor. Binge drinking seems to have a more deleterious effect on neurobehavioral development.2


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