Fetal Alcohol Spectrum Disorders

Fetal alcohol spectrum disorders (FASD) refer to a range of conditions caused by prenatal alcohol exposure in the developing fetus. The effects of in utero alcohol exposure are irreversible; can range from mild to severe; and can affect physical, mental, behavioral, and emotional development. FASD is the number one preventable cause of intellectual disability. Researchers and clinicians at the University of Washington first reported a link between prenatal alcohol exposure and the developing fetus in 1973, and they continue to lead research on the effects of FASD.

Diagnosis

Four diagnoses fall under the umbrella of FASD. Criteria for each of these diagnoses are described below. A diagnostic algorithm can be found in the Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders (figure 1).

Diagnostic Criteria for FASDs

• Fetal alcohol syndrome (FAS): The diagnosis of FAS is made when a child meets all of the following criteria:

  • Growth retardation: The patient is ≤10th percentile for age and sex (prenatal or postnatal).

  • Facial anomalies are present, including at least two of the following features:

    • smooth philtrum

    • thin upper lip

    • small eyes

  • Brain or central nervous system (CNS) abnormalities are present, including structural (microcephaly), neurologic (developmental delay), or functional (behavioral challenges) effects.

  • Prenatal alcohol exposure (confirmed or unknown): If exposure is documented, identify how much, how often, and when the mother consumed alcohol during the pregnancy.

• Partial FAS

  • Patient meets criteria for most but not all growth and/or facial features.

  • CNS abnormalities are present.

  • Exposure to alcohol prenatally is confirmed or unknown (although interpreted with caution).

• Alcohol-related neurodevelopmental disorder (ARND): The term ARND is being replaced with the more specific diagnoses of static encephalopathy/alcohol exposed (SE/AE), neurobehavioral disorder/alcohol exposed (ND/AE), and neurobehavioral disorder-prenatal alcohol exposed (ND-PAE).

  • These diagnoses refer to an individual with some level of CNS dysfunction and confirmed alcohol exposure.

  • Exposure to alcohol prenatally must be confirmed.

  • Facial anomalies are not included as criteria for these diagnoses.

• Alcohol-related birth defects

  • These include malformations (e.g., kidney or heart defects) that are related to confirmed prenatal alcohol exposure.

Evaluation

The diagnosis of FASD requires a thorough evaluation, history (including birth history), and physical examination.

Physical examination should include measurements of the palpebral fissures to determine eye length, plotted on a palpebral-fissure-length growth chart, and assessment of the philtrum and upper lip. FASD diagnostic tools can be used to determine if a child’s philtrum is smooth and if the upper lip is thin (see the University of Washington diagnostic guide). Growth parameters should also be monitored and documented in all children.

(Source: Fetal Alcohol Spectrum Disorders. Am Fam Physician 2005.)

FASD 4-Digit Diagnostic Code: The University of Washington developed this tool to aid multidisciplinary teams in the diagnosis of FASD: “The four digits reflect the magnitude of expression of four key diagnostic features of FASD (growth deficiency, the FAS facial phenotype, CNS abnormalities, and prenatal alcohol exposure). The magnitude of expression of each feature is ranked independently on a 4-point Likert scale.”

(Source: FAS Diagnostic and Prevention Network. University of Washington 2004.)

Differential diagnosis: Even when clinical suspicion for FASD is high, it is important to consider other conditions in the differential diagnosis, including Cornelia de Lange syndrome, 22q11.2 deletion syndrome, Noonan syndrome, Williams syndrome, fetal valproate syndrome, and fetal hydantoin syndrome.

Co-occurring conditions: FASD often is associated with a range of co-occurring developmental and behavioral conditions. Some of the most common reported co-occurring conditions are attention deficit-hyperactivity disorder (ADHD), depression, anxiety, oppositional defiant disorder, intellectual disability, and learning disabilities. Screening for these diagnoses is an important part of evaluating an individual for FASD. Co-occurring conditions are postulated to arise from other factors in addition to prenatal exposure to alcohol, such as genetic predisposition to mental health disorders.

Treatment

FASD is a lifelong diagnosis with no known cure. The treatment plan is often multidisciplinary (including physical, occupational, speech and language, and educational therapies) and must be individualized according to the co-occurring conditions and needs of the patient. Early diagnosis and intervention have been associated with improved outcomes. Medication may be useful in the treatment of co-occurring behavioral diagnoses (e.g., ADHD), but such diagnoses can be difficult to effectively treat in individuals with FASD. Behavioral therapy may also be effective in the management of various behavioral symptoms that emerge. Other therapies (e.g., speech, occupational, and physical) may also be helpful based on individual developmental profiles.