Chapter 24 Fetal Alcohol Syndrome
PATHOPHYSIOLOGY
The term fetal alcohol spectrum disorder (FASD) has been used to describe the diagnostic variations of alcohol-related birth defects that occur as a result of in utero alcohol exposure. FASD refers to “the range of effects that can occur in a person whose mother drank alcohol during pregnancy, including physical, mental, behavioral, and learning disabilities, with possible lifelong implications” (Centers for Disease Control and Prevention, 2005). Besides the diagnosis of fetal alcohol syndrome (FAS), there are other nondiagnostic variations that include fetal alcohol effects (FAE), alcohol-related birth defect (ARBD), and alcohol-related neurodevelopmental disorders (ARND).
FAS, first described as a syndrome in 1973, refers to the multiple birth defects evident in children as a result of in utero exposure to alcohol during pregnancy. FAS is responsible for the highest number of preventable birth defects and developmental disabilities. FAS is characterized by a triad of symptoms as presented in Box 24-1: (a) three dysmorphic facial features (Figure 24-1), (b) growth retardation, and (c) central nervous system (CNS) problems. Children with FAS may manifest other symptoms in addition to the symptom triad. FAS may be difficult to accurately diagnose since symptoms can be affected by the child’s age and developmental level. Children born with FAE do not have the physical characteristics seen in FAS. The manifestations of FAE are fewer than seen in FAS. Children with FAE demonstrate similar problems observed in children with FAS, such as cognitive, social, and behavioral limitations.
Box 24-1 Characteristics for Diagnosing Fetal Alcohol Syndrome
Facial Dysmorphia
In keeping with racial norms (i.e., those appropriate for a person’s race), the person exhibits all three of the following characteristic facial features:
Growth Problems
Confirmed, documented prenatal or postnatal height, weight, or both, at or below the 10th percentile, adjusted for age, sex, gestational age, and race or ethnicity
Central Nervous System Abnormalities
Functional
Test performance substantially below that expected for a person’s age, schooling, or circumstances, as evidenced by either of the following:
1. Global cognitive or intellectual deficits representing multiple domains of deficit (or substantial developmental delay in younger children), with performance below the 3rd percentile (i.e., two standard deviations below the mean for standardized testing)
2. Functional deficits below the 16th percentile (i.e., one standard deviation below the mean for standardized testing) in at least three of the following domains:
Source: Bertrand J et al: Fetal alcohol syndrome: Guidelines for referral and diagnosis, U.S. Department of Health and Human Services, CDC (serial online): www.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdfwww.cdc.gov/ncbddd/fas/documents/FAS_guidelines_accessible.pdf. Accessed January 10, 2007.
In 1981, the Surgeon General of the United States issued a national report, warning of the dangerous consequences for the fetus of ingesting alcohol during pregnancy. In 1989, federal legislation was passed requiring that all alcohol containers contain warning labels about the deleterious effects of alcohol on the fetus.
The extent to which a child is affected by FAS is dependent on the duration, amount, and pattern of prenatal alcohol exposure and the family situation. The threshold level of alcohol needed to cause FAS is not known; any amount of alcohol consumption is considered unsafe. Damage can occur at any time during pregnancy, even when the woman is not aware that she is pregnant; this is an important factor, since 50% of pregnancies are not planned. Large amounts of alcohol are known to result in harmful fetal effects. The ingestion of seven or more drinks per week and/or of three or more drinks on multiple occasions is considered to have destructive fetal effects.
Alcohol-related risk factors associated with FAS are family member or partner who consumes alcohol, alcohol intake during pregnancy, alcohol dependence, and previous pregnancies with alcohol exposure. Psychosocial factors associated with FAS are low socioeconomic status, parental unemployment, child abuse and neglect, placement of children in foster care, and limited or no prenatal care.
Several challenges are associated with the identification and diagnosis of children with FAS. These challenges include (a) lack of clinical guidelines, (b) the provider’s lack of knowledge, (c) limitations in differentiating FAS from other variations of prenatal alcohol exposure, and (d) the lack of candor with the health care provider on the part of women who consume alcohol during pregnancy. A number of factors have been shown to reduce the long-term consequences of FAS: early diagnosis and intervention, stable home environment, and supportive family environment.
The child with FAS may be first identified in community settings (early intervention program, preschool program) or clinical settings (pediatrician’s office or with a pediatric nurse practitioner in the primary care setting) and then referred to an interdisciplinary team for diagnostic evaluation and treatment. Early diagnosis is essential to implementing programs and services needed to improve long-term outcomes. Diagnosis can be difficult, since the characteristic features of FAS may not be evident.
INCIDENCE
1. Prevalence rates of FAS are 0.2 to 1.5 cases per 1000 births.
2. Prevalence rates of FAE are 3 cases per 1000 births.
3. It is estimated that between 1000 to 6000 children are born with FAS annually.
4. Prevalence rates are higher in disadvantaged, Native American, and culturally diverse populations, amounting to 3 to 6 cases per 1000 births.
5. Most children with FASD do not have cognitive disabilities.
6. Approximately 25% of children diagnosed with FAS score two deviations below the mean on measures of cognitive functioning.
7. Approximately 4 million infants are born with fetal alcohol effects.
8. Of women who become pregnant, 13% to 15% continue to ingest alcohol during pregnancy.
9. Of pregnant women, 3% report engaging in binge or heavy drinking of alcohol.
10. Women who have given birth to a child with FAS are at high risk for giving birth to second child with FAS.
