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The differential diagnosis of fetal alcohol spectrum disorder

Tom Leibson, Gal Neuman, Albert E Chudley

    Journal of Population Therapeutics and Clinical Pharmacology = Journal De La Therapeutique Des Populations Et De La Pharmacologie Clinique
    |March 19, 2014
    PubMed

    Insights

    Fetal Alcohol Spectrum Disorder (FASD) is a chronic condition affecting 1% of North American children. This review aids pediatricians in diagnosing FASD by exploring its differential diagnosis and relevant genetic testing.

    Area of Science:

    • Pediatrics
    • Genetics
    • Neurodevelopmental Disorders

    Background:

    • Fetal Alcohol Spectrum Disorder (FASD) impacts an estimated 1% of children in North America.
    • FASD is a chronic disorder affecting multiple care systems.
    • Distinct facial features of Fetal Alcohol Syndrome (FAS) are present in a minority of affected children, making FASD often a diagnosis of exclusion.

    Purpose of the Study:

    • To provide pediatricians with information on the differential diagnosis of FASD.
    • To discuss genetic testing relevant to the assessment of FASD.

    Main Methods:

    • Literature review focusing on differential diagnosis of FASD.
    • Exploration of genetic testing in the context of FASD assessment.

    Main Results:

    • The differential diagnosis for both dysmorphological and neurobehavioral aspects of FASD is extensive.
    • Genetic testing may offer insights into conditions that mimic or co-occur with FASD.

    Conclusions:

    • Accurate diagnosis of FASD requires careful consideration of a wide range of conditions.
    • Understanding the differential diagnosis and potential role of genetic testing is crucial for effective pediatric management of FASD.

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