But a pregnant woman doesn’t have to be a binge drinker to put her fetus at risk. Even low levels of prenatal alcohol use—as low as 1 drink per week—have been associated with adverse behavioral changes in children, including increased aggressive behaviors documented at school age.6,7 The research documenting effects at these low levels has led the American Academy of Pediatrics (AAP) and the American Congress of Obstetricians and Gynecologists (ACOG) to recommend total abstinence from alcohol throughout pregnancy.8,9 Patterns of “at risk” drinking for women include binge drinking or persistent regular use (>7 drinks in 1 week). If a mother provides a history of that level of prenatal exposure, her child should be referred for multidisciplinary evaluation at an FAS center, even in the absence of the characteristic facial features.1
The face of FAS
Without a history of prenatal alcohol exposure, the cardinal features of facial dysmorphia (short palpebral fissures, smooth philtrum, and thin vermillion border) plus deficits in height and weight are the main physical findings of FAS. Evaluating height and weight percentiles is a routine part of well-child care, requiring minimal training. Height or weight or both at or below the 10th percentile, adjusted for age, sex, gestational age, and race or ethnicity, meet part of the CDC diagnostic criteria for FAS, but must be accompanied by at least 1 of the typical facial features associated with FAS to meet referral guidelines.1 The diagnostic guidelines are more restrictive, requiring all 3 facial features to meet the threshold for an FAS diagnosis, vs another diagnosis, such as alcohol-related neurodevelopmental disorders (TABLE 1).
Learning to measure faces. Examining a child for the facial characteristics of FAS requires a set of skills that can be learned in a relatively short time, with moderate interrater reliability when compared with dysmorphologists, according to 1 study.10
Tools for measuring. Palpebral fissure length (PFL) can be measured with a clear plastic ruler pressed onto the child’s cheek to determine the distance from the endocanthion to the exocanthion while the child is gazing upward.11 To meet the CDC criteria for FAS, this distance should be at or below the 10th percentile compared to norms. The shape of the lips and the nature of the philtrum are then compared to preestablished comparison photographs available on the University of Washington Lip-Philtrum Guides (see URL that follows).12 The vermillion border and the philtrum must both receive a rank of 4 or 5 to meet FAS criteria.11
Fetal alcohol syndrome across the lifespan
Changes in the clinical presentation of fetal alcohol syndrome (FAS) occur across the lifespan. Clinicians searching for an explanation of an older child’s difficulties may need to reconsider a possible diagnosis of FAS, even if the facial features are less recognizable.
Preschool children with FAS may display a delay in early language acquisition and the beginnings of attention problems and hyperactivity. School-age children may have difficulty remembering material even when they have gone over it many times. They may lack social perception skills, be hyperactive, and show cognitive delays. Mathematics is often an area of severe delay, and sleep problems can persist.1
Teens and adults with FAS often have a wide range of secondary disabilities: disrupted schooling, inappropriate sexual behavior, mental health problems, aggression, trouble with the law, confinement in jail or as inpatients in psychiatric or substance abuse treatment facilities, alcohol and drug problems, and failure or inability to live independently at an appropriate age. They may have trouble finding a job and keeping one. More than 90% of patients with FAS exhibit mental health problems, with attention problems appearing in early childhood and persisting, and depression appearing in adolescence and adulthod.15
Tools available online for physicians include Lip-Philtrum Guides (www.depts.washington.edu/fasdpn/htmls/lip-philtrum-guides.htm) and an instructional video depicting PFL measurement techniques (www.depts.washington.edu/fasdpn/htmls/photo-face.htm), both from the University of Washington FAS Diagnostic and Prevention Network. In addition, a physical evaluation summary form, with reference data for PFL in Caucasian, black, and Hispanic children, is available at http://www.fas.academicedge.com/documents/phyevaln.pdf.
The Astley-Clarren criteria. The 4-digit diagnostic code developed by Astley and Clarren for diagnosis of FAS and employed at some FAS referral centers uses very strict criteria.13 Centers using these criteria define “abnormal” as ≥2 standard deviations below the mean or its equivalent, ≤2.5th percentile.13 Th is applies to the 3 facial features and CNS dysfunction (low IQ, eg). If all 3 facial features are identified in the Astley-Clarren system as abnormal (PFL ≤2.5th percentile, lip philtrum 5, vermillion 5), the sensitivity of the facial features is 100% and specificity is 99.8% for a diagnosis of FAS.13