What are the diagnostic criteria and management steps for fetal alcohol syndrome in an infant or child whose mother consumed alcohol heavily during pregnancy and who presents with growth deficiency, characteristic facial dysmorphology, and central nervous system abnormalities?

Diagnosis and Management of Fetal Alcohol Syndrome

Diagnostic Criteria

A diagnosis of FAS requires documentation of all three components: (1) all three specific facial dysmorphic features (smooth philtrum, thin vermillion border, and small palpebral fissures), (2) prenatal or postnatal growth deficit in height or weight (≤10th percentile), and (3) CNS abnormality (structural, neurologic, or functional). 1

Facial Features Assessment

• All three facial features must be present simultaneously: smooth philtrum, thin vermillion border, and small palpebral fissures 1, 2
• Direct physical examination with standardized measurement tools is required; prenatal ultrasound has no diagnostic role 2
• Critical pitfall: Facial features become less apparent after puberty, making early diagnosis essential 1, 2
• Additional features like maxillary hypoplasia may be present but are not required for diagnosis 1

Growth Deficits

• Height and/or weight ≤10th percentile on racially/ethnically appropriate growth curves 2
• Any history of growth retardation counts, including prenatal growth deficiencies or early failure to thrive, even if corrected by treatment (feeding tubes, hormone therapy) 1
• The <10th percentile threshold maximizes sensitivity despite reducing specificity 1
• Ensure the child was not nutritionally deprived at the single point when growth deficit was documented 1

CNS Abnormalities (One of Three Types Required)

Functional deficits (either criterion satisfies this requirement):

• Performance below 3rd percentile (≥2 standard deviations below mean) on global cognitive measures, OR 1, 3
• Performance below 16th percentile (≥1 standard deviation below mean) on standardized measures of three functional domains 1, 3

Structural abnormalities: documented brain malformations 1

Neurologic abnormalities: documented neurologic deficits 1

Prenatal Alcohol Exposure Classification

• FAS with confirmed prenatal alcohol exposure: documented through clinical observation, self-reports, reliable informant reports of heavy use, positive blood alcohol levels, alcohol treatment records, or social/legal/medical problems related to drinking during pregnancy 1
• FAS with unknown prenatal alcohol exposure: neither confirmed presence nor absence (adopted children, conflicting reports, known maternal alcoholism without confirmed pregnancy exposure) 1
• Lack of confirmed exposure should not preclude diagnosis if all other criteria are met 1

When to Refer for Full FAS Evaluation

Known Prenatal Alcohol Exposure

• Refer when substantial alcohol use is confirmed: ≥7 drinks per week OR ≥3 drinks on multiple occasions 1

Unknown Prenatal Alcohol Exposure (Any of the Following)

• Parent/caregiver reports child has or might have FAS 1
• All three facial features present 1
• One or more facial features PLUS growth deficits 1
• One or more facial features PLUS CNS abnormalities 1
• One or more facial features PLUS growth deficits PLUS CNS abnormalities 1

High-Risk Social/Family History Factors

• Premature maternal death related to alcohol use 1
• Living with an alcoholic parent 1
• Current or previous abuse/neglect 1
• Involvement with child protective services 1
• History of transient caregiving situations 1
• Foster or adoptive placement (including kinship care) 1

Management Approach

Comprehensive Neuropsychological Assessment

The diagnostic process must include thorough neuropsychological evaluation assessing multiple domains to document specific deficits and guide individualized treatment planning. 1, 3

• Assess communication and social skills, emotional maturity, verbal and comprehension abilities, and language usage 1, 3
• Supplement clinical observations with standardized testing through early intervention programs, public schools, or private practice psychologists 1
• Cognitive deficits occur even without full facial phenotype: heavy prenatal alcohol exposure causes IQ deficits regardless of dysmorphic features 4

Non-Pharmacological Interventions (Primary Treatment)

Stabilize home placement and provide a nurturing environment, as these are strong protective factors. 1

• Implement specialized parenting techniques accounting for impaired cause-and-effect reasoning and executive functioning deficits 3
• Provide caregiver education so parents understand the unique thought processes and needs of children with FAS 1, 3
• Create environmental modifications to avoid overstimulating situations 3
• Improve parent-child interaction through structured caregiver education programs 1

Specific Intervention Services (Tailored to Individual Deficits)

• Communication and social skills training 1, 3
• Emotional development support 1, 3
• Verbal and comprehension abilities enhancement 1, 3
• Language usage therapy 1, 3

Medication Assessment

• Consider medication assessment when behavioral interventions alone are insufficient, particularly for communication difficulties, emotional immaturity, and social skills deficits 1, 3
• Medication alone is insufficient; must be used in conjunction with behavioral and educational interventions 3
• Assessment must be individualized based on affected brain regions, developmental stage, and family functioning 3

Service Coordination and Advocacy

• Advocate for access to appropriate health-care, education, and community services 1
• Connect families with community resources and specialized services 3
• Children in adoptive or foster placements require particular attention in the diagnostic and referral process 1
• Educate service professionals involved with affected persons and their families regarding FAS and its consequences 1

Critical Clinical Pitfalls

• Do not wait for confirmed alcohol exposure history to diagnose FAS if all clinical criteria are met 1
• Do not dismiss FAS possibility in children without classic facial features; approximately 50% of heavily exposed children without full dysmorphic features still have cognitive impairment 5
• Do not delay diagnosis until after puberty; facial features become less detectable with age 1, 2
• Do not rely on prenatal ultrasound for diagnosis; FAS is entirely a postnatal diagnosis requiring direct physical examination 2
• Do not overlook growth deficits that were previously corrected; any history of growth retardation counts toward diagnostic criteria 1