Describe the critetia for making a diagnosis of FAS

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  •  
    The  diagnosis of FAS requires 3 criteria:
    1.   3 specific facial abnormalities.
    2.   Growth problems.
    3.   Central nervous system (CNS) problems.
     
    1.   The 3 abnormal facial features are: 1) Smooth ridge between the nose and upper lip (smooth philtrum),  2) Thin upper lip and 3) short distance between the inner and outer corners of the eyes which gives the eyes a wide spaced appearance.
    ( see the lip-philtrum guide at:
    http://depts.washington.edu/fasdpn/htmls/lip-philtrum-guides.htm
     
     
    Other features that can be seen are a low nasal bridge, short nose and a small head circumference.
     
    2. Growth problems: Confirmed prenatal or postnatal height or weight at or  both below the 10th percentile.  Adjusted for age, gestational age and race.
     
    3. Central nervous system abnormalities: (includes any of the following)
     
    a) Head circumference at or below the 10th percentile adjusted for age and sex and/ or clinically significant brain abnormalities observed through imaging
     
    .
     
    b) Neurological-problems with abnormal nervous system function that cannot be linked to another cause including poor coordination and muscle control or problems is sucking as a baby.
     
     
     
     c) Functional problems including:
     
     Global cognitive or intellectual deficits with performance below the third percentile or functional deficits below the 16th percentile in three of the following: cognitive or developmental deficits, executive functioning deficits, motor functioning delays, problems with attention or hyper activity, impaired social skills, and other problems such as sensor, language or memory deficits.
     
    Mother’s alcohol use during pregnancy can strengthen the case for a FAS diagnosis but it is not essential if the child meets the criteria above. 
     
    The symptom pattern can overlap with other disorders such as Fragile X Syndrome, but is distinct from other disorders such as Tuberosis Sclerosis and Prader-Willi Syndrome.  Other diagnostic measures can help discriminate conditions with overlapping symptom patterns. 
     

    Fetal Alcohol Syndrome: Diagnostic Criteria
    Fetal Alcohol Syndrome: Diagnostic Criteria

      (Constructed from data in Agarwal, A.P. and Seitz, H.K. et al. Alcohol in Health and Disease, 15, 2001; Autti-Ramo, I. et al. Am J Med Genetics 140:137, 2006; Bertrand J. et al. MMWR Recomm Rep 54:1-14, 2005)   ©2008 NBEP  

  • The diagnosis of FAS depends on symptom pattern

    Symptom Patterns Determining Behavioral Phenotype
    Symptom Patterns Determining Behavioral Phenotype

      Fetal Alcohol Symptom (FAS) and Fragile X (representing one subgroup) overlapped for 5 of 6 measured subsets of behavior while Tuberosis Sclerosis and Prader-Willi (representing another subgroup) overlapped 4 of 6. The two subgroups overlapped for 1 of 6 phenotypes (antisocial behavior).   The Developmental Behavior Checklist was completed by parents of children diagnosed with FAS (n = 38), Fragile X (n = 49 boys), Tuberosis Sclerosis (n = 16 boys) and Prader-Willi (n = 42) with ages ranging from 3 – 18 years. The 6 subscales of behavior included disruptive, self-absorbed, communication disturbance, anxious, autistic relating, and antisocial. Statistical analysis revealed p < .001 between the 4 symptom profiles and the 6 behavioral phenotypes.     (Constructed from data in Steinhause, H.C. et al. Am J Med Genetics, 111: 381, 2002)   ©2008 NBEP