The CDC criteria, developed with increased surveillance by providers as a goal, uses relaxed criteria of ≤10th percentile of PFL and 4 or 5 on the philtrum/vermillion border guide to identify abnormal facial features and <10th percentile in CNS dysfunctions. Sensitivity and specificity data for those CDC criteria are not available.1
CNS abnormalities may be noted early enough to trigger a referral for complete evaluation, but must be present in some degree to confirm a diagnosis of FAS. Abnormalities may include microcephaly with head circumference below the 10th percentile; clinically significant brain abnormalities observable through imaging, especially a small or absent corpus callosum; and functional deficits in any of a multitude of domains. In an infant, these deficits may be expressed in global developmental delays, sleep cycle problems, poor muscle tone, and feeding problems with poor suck and texture aversion.1
Evaluation may not confirm the diagnosis. Children referred for more extensive evaluation may or may not be confirmed to have FAS. In 2 demographically similar counties in New York state, only 5% of children initially identified in 1 county (10 of 208) and 13% (53 of 420) of children in the other county were confirmed to have FAS.12 The FAS diagnosis is complicated and the CNS and growth deficiencies may not be expressed until a later age.14 (See “Fetal alcohol syndrome across the lifespan”1,15)
Providers may feel reluctant to alarm or stigmatize families when they are unsure of the diagnosis, but the long-term benefit of confirming the diagnosis early on may be significant for the child and family. The case on page 341 (Tanya) illustrates the complexity of diagnosing FASD.
The encouraging news for family physicians is that the odds of escaping adverse life outcomes are increased 2- to 4-fold by receiving a diagnosis of FAS before age 6 and by being raised in a stable environment.16 Early diagnosis can be protective by helping with eligibility requirements for support services and by opening the door to medical management of FAS-associated conditions such as ADHD and depression. In addition, the diagnosis can alert family physicians to the family’s need for help with ongoing problems with alcohol use. The case on page 341 (Brianna) illustrates the complex secondary problems a teen with FAS may face.
Putting families in touch with resources
Multidisciplinary FAS teams may include physicians (a geneticist or developmental pediatrician), psychologists, speech pathologists, educational specialists, social workers, and occupational therapists. These groups typically have in-depth intake and evaluation processes, including neurodiagnostic studies that help clarify the cognitive and functional domains that are affected.
You can locate the nearest FAS evaluation team and other resources for providers and families on the National and State Resource Directory for the National Organization on Fetal Alcohol Syndrome. Go to www.nofas.org, click on Resources, then on National and State Resources Directory in the box on the left side of the page. There may be a waiting list for evaluation, but under Part C of the Individuals with Disabilities Education Act (IDEA), FAS is considered a “presumptive eligibility” diagnosis. Presumptive diagnoses allow children under age 3 at risk of later developmental delay to be served without meeting particular eligibility criteria.1 Physicians may refer these children for developmental assessment services and early intervention services while waiting for the more complete FAS evaluation.
After the age of 3, children and families are referred to preschool programs for children with disabilities that are administered through IDEA Part B, with no “presumptive eligibility” diagnoses. Eligibility for educational services under this program is entirely based on functional criteria.
Your best bet: Prevention
The key to preventing FAS is to find out whether your patient’s drinking patterns and contraceptive habits put her at risk for an alcohol-exposed pregnancy. Make it routine practice to ask women, in a way that encourages honest reporting, about both of these aspects of their lives. The US Preventive Services Task Force recommends screening and counseling intervention in primary care settings to reduce alcohol misuse in adults, including pregnant women.17 The case on page 341 (Clarice) illustrates how screening and brief intervention can be used to prevent alcohol-exposed pregnancy.
Making the FAS diagnosis: 3 cases*
TANYA
Possible, though unconfirmed, FAS
This 1-month-old African American girl was admitted to the hospital with stridor, possible cardiorespiratory issues, and failure to thrive. She exhibited microcephaly, poor suck, floppy overall muscle tone, and small palpebral fissure lengths. The respiratory noise was attributed to tracheomalacia, secondary to her poor muscle tone.
An initial magnetic resonance imaging of the brain showed an almost complete absence of the corpus callosum. Obviously at risk for future delays, Tanya was referred for early childhood development intervention. By the age of 5½, she was within her peer group’s normal range in fine motor, gross motor, and speech skills. She was removed from her mother’s care for neglect and later placed in an extended family adoption.
Her initial evaluation took place before the widespread publication of fetal alcohol syndrome (FAS) criteria, and she was not referred for more specific FAS evaluation, as she would have been had she been seen more recently. Tanya has been lost to long-term follow-up from her initial medical home, but her mother returned to the same practice for a subsequent pregnancy and was screened as a problem drinker.
BRIANNA
Facing severe secondary disabilities
This 16-year-old Caucasian girl entered foster care for the second time because her first placement could not deal with her complex behavioral issues. Her mother committed suicide last year, and her father is in an alcohol rehabilitation program. No pregnancy history is available.
The social service agency supervising Brianna’s care decided not to return her to her father’s home. She made a suicidal gesture, her behavior is sometimes violent, and she has been diagnosed with attention deficit hyperactivity disorder (ADHD). She is being treated for depression, requiring multiple medications.
Brianna’s life has been difficult. Before she was 2 years old, she underwent surgery for a ventricular septal defect. Although her cardiac repair was successful, she remains significantly underweight, <3rd percentile on the growth curve. Because she is an adolescent, her facial features are less distinctive for FAS, but she appears to have a smooth philtrum and thin vermillion. Her learning disabilities are significant enough that she has been held back a grade and requires an individualized education plan.
It may be too late to help provide any assistance to Brianna, who is already experiencing severe secondary disabilities. But if a diagnosis of FAS (or alcohol-related neurobehavioral disorder) can be made, even at this point in her life, provisions may be made within the foster care system for transitional housing and emphasis on life skills training, rather than simply allowing her to “age out” of the system when she turns 18.
CLARICE
Preventing an alcohol-exposed pregnancy
Clarice is an 18-year-old, college-bound woman who came in for a pre-college health maintenance examination. She reported being sexually active and was using effective contraception only intermittently. On the TWEAK questionnaire, she said the most she has had to drink on a single occasion was 6 drinks, noted that she had never passed out and had not had any problems associated with drinking. The only worry she connected with drinking was a fear of gaining weight.
Clarice met the criteria for “at risk” drinking (TABLE 3). She was a candidate for a brief intervention, including information on the hazards of alcohol-exposed pregnancy and on effective contraceptive practices. We scheduled a telephone follow-up and checkup in 6 months.
* Drawn from the author’s case files. Names have been changed to protect patient privacy.