The 4 Diagnoses under the FASD Umbrella    

Fetal Alcohol Spectrum Disorders (FASD) is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects may include physical, mental, behavioral, and/or learning disabilities with possible lifelong implications. The term FASD is not intended for use as a clinical diagnosis. An individual would not receive a diagnosis of FASD.

Four diagnoses fall under the umbrella of FASD: FAS, Partial FAS, Static Encephalopathy/Alcohol Exposed (SE/AE) and Neurobehavioral Disorder/Alcohol Exposed (ND/AE). Each year, as many as 40,000 babies are born with FASD, at a cost of over $4 billion dollars nationwide.

Fetal Alcohol Syndrome (FAS) is a birth defect syndrome caused by maternal alcohol consumption during pregnancy. FAS is characterized by:

  • growth deficiency (height or weight < 10th percentile).
  • a unique cluster of minor facial anomalies (small eyes, smooth philtrum, thin upper lip).
  • severe CNS abnormalites (structural, neurological, and/or functional abnormalities).
  • prenatal alcohol exposure (confirmed or unknown).

The prevalence of FAS is estimated to be 1 to 3 per 1,000 live births. This is roughly equivalent to the prevalence of down syndrome. FAS is the leading known cause of intellectual disabilities and is entirely preventable.

Partial FAS is a diagnostic classification for patients who present with:

  • most, but not all, of the growth deficiency and/or facial features of FAS.
  • severe CNS abnormalities (structural, neurological, and/or functional abnormalities).
  • prenatal alcohol exposure (confirmed).

Alcohol Related Neurodevelopmental Disorders (ARND) is a diagnostic term that is being phased out for reasons described below for FAE. It was coined by the Institute of Medicine in 1996 for patients who presented with:

  • central nervous system damage (structural, neurological, and/or functional impairment).
  • prenatal alcohol exposure confirmed.

Fetal Alcohol Effects (FAE) was a term, introduced in 1978, that was used to describe abnormalities seen in individuals that were compatible with those caused by prenatal alcohol exposure, but the pattern was not sufficiently complete to render a diagnosis of FAS. FAE was rapidly adopted as a medical diagnostic term. In 1995, Aase et. al. published a paper expressing concern about the clinical validity of the term FAE. The term implied a causal association between prenatal alcohol exposure and abnormalities observed in an individual patient that could not be confirmed. With the likely exception of the full FAS facial phenotype, no other physical anomalies or cognitive/behavioral disabilities observed in an individual with prenatal alcohol exposure are necessarily specific to (caused only by) their prenatal alcohol exposure. Features such as microcephaly, neurological abnormalities, attention deficit, mental retardation, and growth deficiency frequently occur in individuals with prenatal alcohol exposure, and frequently occur in individuals with no prenatal alcohol exposure. Aase et al (1995) wrote "We propose abandoning the clinical use of the term FAE with its implications of causation, and urge simple recording of the verifiable conclusions concerning the individual patient."

The FASD 4-Digit Diagnostic Code does not use the terms ARND and FAE because, as clearly expressed by Aase et al., (1995), they imply alcohol exposure caused the neurodevelopmental disorder or effect. The 4-Digit Code avoids this problem by using diagnostic terms that report the patient was exposed to prenatal alcohol rather than reporting the patient's outcomes are alcohol effects or alcohol-related outcomes. As recommended by Aase et al., (1995) "If prenatal alcohol exposure has taken place, but FAS cannot be substantiated, the exposure still should be indicated, and any nonspecific abnormalities or problems noted." The 4-Digit Diagnostic Code uses the following two terms in lieu of ARND or FAE.

Static encephalopathy/Alcohol Exposed (SE/AE). The term "encephalopathy" refers to "any significant abnormal condition of the structure or function of brain tissues" (Anderson, 2002). The term "static" means that the abnormality in the brain is unchanging; neither progressing nor regressing. This diagnostic classification is for patients who present with:

  • severe CNS abnormalities (structural, neurological, and/or severe functional abnormalities).
  • prenatal alcohol exposure (confirmed).

Neurobehavioral Disorder/Alcohol Exposed (ND/AE) is a diagnostic outcome classification for patients who present with:

  • moderate CNS dysfunction.
  • prenatal alcohol exposure (confirmed).

Neurobehavioral Disorder-Prenatal Alcohol Exposed (ND-PAE) is a diagnostic outome classification recently introduced by the DSM-5. It essentially replaces the term ARND and adopts the "outcome-exposure" approach to nomenclature. Confirmed prenatal alcohol exposure is required.

The prevalence of SE/AE and ND/AE are 5 to 10 fold higher than the prevalence of FAS/PFAS.

The severity of brain dysfunction increases as one advances from ND/AE to SE/AE to FAS/PFAS.


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