PRACTICE RECOMMENDATIONS
Screen all females of childbearing age for alcohol use with standardized screening instruments such as TWEAK, T-ACE, or AUDIT. A
Use brief, in-office interventions to decrease alcohol consumption and increase effective contraception in sexually active women. Involve a supportive adult of the patient’s choosing where possible. A
Advise pregnant patients that complete abstinence from alcohol is safest. B
Refer a child who meets FAS referral criteria for multi-disciplinary evaluations as early as possible. A
Strength of recommendation (SOR)
A Good-quality patient-oriented evidence
B Inconsistent or limited-quality patient-oriented evidence
C Consensus, usual practice, opinion, disease-oriented evidence, case series
Family physicians who care for infants and young children are often asked to diagnose growth lags and failure to meet parents’ expectations for reaching developmental milestones: Why isn’t my child gaining weight? Why isn’t he talking? The other kids in the day-care center ride tricycles—why can’t he? Will he catch up? My mother thinks he’s funny looking. Do you?
Simple reassurance is all that most of these worried families need. But for families with children whose growth or developmental milestones are sufficiently outside the usual parameters, more than reassurance is called for. As you consider whether the lags that worry parents are signs of a serious disability, it’s important to make a place for fetal alcohol syndrome (FAS) in your differential.
FAS, a congenital disorder caused by alcohol exposure during pregnancy, is characterized by growth deficiency before and after birth, distinctive facial features, and central nervous system (CNS) dysfunctions. The cognitive and developmental effects of FAS persist throughout life and are severe enough to limit employment and independent living.1,2
A spectrum of severity. FAS is the most severe expression of prenatal alcohol exposure. The term fetal alcohol spectrum disorders (FASD) is a nondiagnostic umbrella term that includes FAS as well as ARND (alcohol-related neurobehavioral disorder) and ARBD (alcohol-related birth defects). Children with ARND and ARBD fail to meet the full FAS diagnostic criteria but still exhibit the negative effects of gestational alcohol exposure. Centers for Disease Control and Prevention (CDC) diagnostic criteria for FAS are summarized in TABLE 1. Studies by the CDC have reported FAS prevalence rates from 0.2 to 1.5 cases per 1000 live births, with a higher prevalence among minority (Native American and African American) and impoverished groups.1
An opportunity—and a challenge. As a family physician, you have a unique opportunity to modify the impact of FAS by recognizing the disorder in infancy or early childhood, actively engineering appropriate referrals, and supporting families in the difficult task of parenting a child with disabilities. Correctly diagnosing a child with FAS before age 6 can have a protective influence, decreasing the odds that he or she will suffer severe secondary disabilities in adolescence and adulthood. You can also help prevent FAS by screening for potentially harmful drinking patterns and helping sexually active female patients decrease alcohol consumption and use contraception successfully.
Providing these supportive and preventive services can be challenging. A recent survey of pediatricians revealed that only 34% felt prepared to manage and coordinate the treatment of children with FASD, and only 13% routinely counseled adolescent patients about the risks of drinking and pregnancy.3 Th is article will help you surmount the difficulties these tasks present and perform vital functions for alcohol-affected families you may encounter in your practice.
TABLE 1
Diagnostic criteria for fetal alcohol syndrome
Facial dysmorphia
| ≤10th percentile for age and racial norms Score of 4 or 5 on lip-philtrum guide* Score of 4 or 5 on lip-philtrum guide* |
| Growth problems | <10th percentile for age, sex, gestational age, racial norms in height or weight, prenatally or postnatally |
| CNS abnormalities | Any structural abnormality (head circumference <10% of age norm or clinically significant brain abnormalities observable through imaging); neurological abnormality not due to postnatal insult or fever; or functional abnormality demonstrated by cognitive performance less than expected for age, schooling, or family circumstances. An individual could meet the CNS abnormality criteria for a FAS diagnosis through a structural abnormality, yet not demonstrate detectable functional deficits. |
| CNS, central nervous system. | |
| *The lip-philtrum guide is available at http://depts.washington.edu/fasdpn/htmls/lip-philtrum-guides.htm. | |
| Source: Centers for Disease Control and Prevention. Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis. 2005. Available at www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf. Accessed April 10, 2010. | |
The place to start: Spotting mothers at risk
Recognizing an infant with FAS starts by asking the baby’s mother about her pattern of drinking while she was pregnant. Most studies on the effects of gestational exposure to alcohol have emphasized moderate to high levels of exposure. In 1 study, children who were exposed to binge drinking were 1.7 times as likely to have IQ scores in the mentally retarded range and 2.5 times more likely to have clinically significant levels of delinquent behavior.4 Binge drinking is defined by the National Institute of Alcohol Abuse and Alcoholism as a pattern of drinking that brings blood alcohol concentration to 0.8% or above, which typically happens in women who consume 4 or more drinks in a period of about 2 hours.5