Home Program Information


Jump to:
  • Introduction
  • Background
  • Diagnostic Criteria
  • Clinical Presentation
  • Assessment & Diagnosis
  • Conclusion
 
 
 
    Faculty Information

Identification, Evaluation, and Diagnosis of Fetal Alcohol Spectrum Disorders

DIAGNOSTIC CRITERIA
  • Terminology: What are Fetal Alcohol Spectrum Disorders?
    • Fetal Alcohol Spectrum Disorders (FASDs) is a relatively new term that has come into usage in order to convey the fact that although some individuals with prenatal alcohol exposure will meet the full criteria for a diagnosis of FAS, in fact, the majority of individuals with prenatal alcohol exposure exhibit some but not all of the criteria of FAS (2).
      • Thus, the term FASDs has been proposed to represent individuals experiencing significant impairments associated with prenatal alcohol exposure, including not only those with FAS, but also those who might be diagnosed with other related conditions, such as Partial FAS, Alcohol Related Neurodevelopmental Disorder (ARND), or Alcohol Related Birth Defects (ARBD).
      • The term FASDs is meant to convey that there is a continuum of effects, and that individuals can be mildly affected in one area, but may be moderately or severely affected in another area.
    • The term, Fetal Alcohol Effects (FAE), which has been used in previous research to describe individuals who do not exhibit all the sequelae of FAS but still have experienced significant impairments associated with prenatal alcohol exposure, is used less commonly now in the current literature.
  • Diagnostic Categories: What are the differences between FAS, Partial FAS, ARND, and ARBD?
    • Fetal Alcohol Syndrome
      • In 2004, the CDC's National Center on Birth Defects and Developmental Disabilities in coordination with the National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effects published guidelines on diagnosing FAS (24). According to these guidelines, a diagnosis of FAS is based on the following 4 criteria:
        1. Evidence of three essential facial abnormalities
          • Short palpebral fissures


            • Photo reprinted with permission from Susan Astley, University of Washington: www.fasdpn.org.

          • A smooth philtrum
          • A thin vermillion border or upper lip



            • Photo reprinted with permission from Susan Astley, University of Washington: www.fasdpn.org



            Photos reprinted with permission from Kathleen Sulik, Harvard Medical School (26)

          • The photograph on the left provides an example of facial malformations in a child who was exposed to alcohol in utero.
          • The photograph on the right is taken from a classic study (26) to examine facial malformations produced in mice by in utero exposure to alcohol
            • This study demonstrated that brief exposure (on gestational day 7) to two doses of ethanol was sufficient to produce the major facial dysmorphology observable in the alcohol-exposed mouse on the left. For, comparison, the mouse of the right was not exposed to alcohol.
            • Eye malformations were common, including growth deficiency of the eye (as indicated by decreased length of the palpebral fissures), as well as coloboma of the iris, microphthalmia and anophthalmia.
            • Malformations in the nasal and upper lip regions can also be observed, including a small nose, and a reduced or absent philtrum, and a long, but thin upper lip.


            Photo reprinted with permission from Susan Astley, University of Washington: www.fasdpn.org
        2. Evidence of either prenatal or postnatal growth deficiency
          • There is evidence from both animal and human studies that prenatal exposure to alcohol is associated with growth deficits with respect to both height and weight, and these deficits are apparent at birth and in early infancy (16) and persist into childhood (27) and adolescence (15).
          • The relationship between prenatal alcohol exposure and growth deficiency appears to be linear, with effects documented even at relatively low levels of exposure (16).
          • These growth effects may persist in many, but not all, individuals exposed to alcohol in utero. Such variations may be a function of interactions between the individual's prenatal exposure and postnatal environment, with growth effects more likely to persist among individuals from less advantaged backgrounds (16).
        3. Evidence of central nervous system (CNS) dysfunction, which may include:
          • Structural abnormalities
            • Microcephaly


              • Photo: Sterling Clarren, M.D.
            • Abnormalities in specific brain structures, such as the corpus callosum, cerebellem, and basal ganglia evident through imaging techniques.
              • Neurological problems
                • Seizures that are not due to some type of postnatal insult
                • Neurosensory hearing loss
                • Other soft neurological signs, such as problems with coordination or motor control
              • Functional impairments (e.g., global cognitive delay)
                • Global cognitive delay
                • Executive functioning deficits
                • Motor deficits
                • Inattention or hyperactivity
                • Social skills deficits
                • Other impairments such as sensory, pragmatic language, or memory problems
        4. Although confirmation of prenatal alcohol exposure can provide increased evidence for the diagnosis of FAS, it is not required. In many cases, prenatal alcohol exposure may be reasonably suspected, but cannot be confirmed (e.g., child was adopted and his/her biological mother was an alcoholic).
          • In cases in which prenatal alcohol exposure cannot be confirmed, it is especially important to rule out other disorders that might present similarly to FAS.
            • Exposure to other teratogens, such as Dilantin, may cause similar presentations to FAS.
            • Some genetic disorders, such as Williams syndrome or Noonan's syndrome, may present similarly to FAS.
    • Partial (or Atypical) Fetal Alcohol Syndrome
      • A diagnosis of Partial FAS is based on the following:
        • Confirmed alcohol exposure
        • Evidence of some components of the pattern of characteristic facial abnormalities, AND either:
        • Evidence of some growth retardation, OR
        • Evidence of CNS abnormalities OR
        • Evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone
    • Alcohol Related Neurodevelopmental Disorder (ARND)
      • A diagnosis of ARND is based on the following:
        • Confirmed alcohol exposure
        • Evidence of CNS abnormalities OR
        • Evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained
    • Alcohol Related Birth Defects (ARBD)
      • A diagnosis of ARBD is based on the following:
        • Confirmed alcohol exposure
        • One or more congenital defects: heart, bone, kidney, vision, hearing
Copyright © 2008, 2009 Semel Institute at UCLA, All Rights Reserved