Diagnostics at a Glance

 /en-us/advocacy-and-policy/aap-health-initiatives/fetal-alcohol-spectrum-disorders-toolkit/PublishingImages/PEHDIC_FASDP_home2.jpg
-A   +A

Diagnostics at a Glance

 

This section includes clinical criteria for diagnosis of each disorder under the umbrella of Fetal Alcohol Syndrome Disorders (FASDs). These criteria are drawn from the 1996 Institute of Medicine report Fetal Alcohol Syndrome (FAS): Diagnosis, Epidemiology, Prevention, and Treatment and criteria described by the National Taskforce on FAS/FAE: Fetal alcohol syndrome: FAS Guidelines for Referral and Diagnosis.

Fetal Alcohol Syndrome (FAS)

Facial Dysmorphia
Based on racial norms, individual exhibits all 3 characteristic facial features
*Cardinal features in blue


  • Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5)
  • Thin vermillion border (University of Washington Lip-Philtrum Guide rank 4 or 5)
  • Small palpebral fissures (at or below 10th percentile )
Growth Problems
Confirmed prenatal or postnatal height or weight, or both, at or below the 10th percentile, documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity). 

Central Nervous System Abnormalities
Structural​Head circumference (occipital-frontal circumference – OFC) at or below the 10th percentile adjusted for age and sex. Clinically significant brain abnormalities observable through imaging.
NeurologicNeurologic problems not due to a postnatal insult or fever, or other soft neurologic signs outside normal limits.
FunctionalPerformance substantially below that expected for an individual’s age, schooling, or circumstances, as evidenced by
  1. Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the third percentile (2 standard deviations below the mean for standardized testing).
  2. Or functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in at least 3 of the following domains:
    • Cognitive or developmental deficits or discrepancies
    • Executive functioning deficits
    • Motor functioning delays
    • Problems with attention or hyperactivity
    • Social skills
    • Other, such as sensory problems, pragmatic language problems, memory deficits, etc
Maternal Alcohol Exposure
I.     Confirmed prenatal alcohol exposure
II.    Unknown prenatal alcohol exposure

Criteria for FAS Diagnosis
Requires all 3 of the following findings:
1.    Documentation of all 3 facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral fissures)
2.    Documentation of growth deficits
3.    Documentation of central nervous system (CNS) abnormality

Partial Fetal Alcohol Syndrome (pFAS)
Diagnosis of pFAS indicates that a child shows some of the features of FAS but does not meet criteria for an FAS diagnosis. From the above criteria, pFAS

1.    Requires confirmed history of in utero exposure to alcohol
2.    Evidence of some facial dysmorphia consistent with FAS (but not all 3 cardinal features)
3.    Evidence of growth retardation OR evidence of CNS abnormality

Alcohol-Related Neurodevelopmental Disorder (ARND)
ARND is the most common diagnosis within the FASD continuum, occurring more than twice as often as a full FAS diagnosis. However, diagnostic criteria for the ARND diagnosis are the least well described or delineated. To address this gap, in 2011 the Interagency Coordinating Committee on FASDs convened a consensus committee on recognition of ARND. This committee reviewed the scientific body of literature and concluded that the constellation of CNS symptoms associated with ARND and that should be assessed are

•    Neurocognitive impairment
•    Self-regulatory challenges (ie, behavior dysregulation)
•    Adaptive functioning

While a number of validated assessment procedures are available for each of these domains of neurodevelopment, ongoing research efforts by the AAP and others will provide further guidance. 

Alcohol-Related Birth Defects
Alcohol-related birth defects are conditions resulting from structural birth defects associated with prenatal alcohol exposure.

  1. Requires confirmed history of in utero exposure to alcohol
  2. Evidence of structural birth defect associated with in utero exposure to alcohol, including malformations of cardiac, skeletal, renal, ocular or auditory systems

This diagnosis often is made in conjunction with other FASD diagnoses (eg, ARND if no growth or facial dysmorphia are present). 
            print           email           share