FASD Elephant (TM) #002: Fetal Alcohol Syndrome (FAS) History and Diagnostic Introduction

History

The earliest known observation of possible links between maternal alcohol use and fetal damage may have been made in 1899 by Dr. William Sullivan, a Liverpool prison physician who noted higher rates of stillbirth for 120 alcoholic female prisoners than their sober female relatives and suggested the causal agent to be alcohol use (Sullivan, 1899).

This view contradicted the predominant theories of the day, which were that genetics caused mental retardation, poverty, and criminal behavior. A case study popular in the early 1900s by Henry H. Goddard involved the Kallikak family and shows the bias of the time period (Goddard, 1912), though later researchers conclude that the Kallikaks almost certainly had FAS (Karp, R.J., et al, 1995).

Fetal Alcohol Syndrome, or FAS, was named in 1973 by two dysmorphologists, Drs. Kenneth Lyons Jones and David W. Smith of the University of Washington Medical School in Seattle. They identified a pattern of "craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay" in eight unrelated children of three ethnic groups, all born to mothers who were alcoholics (Jones, K.L., et al, 1973).

While many syndromes are eponymous, or named after the physician first reporting the association of symptoms, Dr. Smith named FAS after alcohol, the causal agent of the symptoms. His reasoning for doing so was to promote prevention of FAS, believing that if people knew maternal alcohol consumption caused the syndrome, then abstinence during pregnancy would follow from patient education and public awareness. Nobody was aware of the full range of possible birth defects from FASD or its prevalence rate at that time, but admitting alcohol use during pregnancy can feel stigmatizing to birth mothers and complicate diagnostic efforts of a syndrome with its preventable cause in the name. Over time, the term FASD is coming to predominate.

Diagnostic Systems

Since the original syndrome of Fetal Alcohol Syndrome (FAS) was reported in 1973, four FASD diagnostic systems that diagnose FAS and other FASD conditions have been developed in North America:

• The Institute of Medicine's guidelines for FAS, the first system to standardize diagnoses of individuals with prenatal alcohol exposure (Institute of Medicine (IOM), Stratton, K.R., Howe, C.J., & Battaglia, F.C. (1996). Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: National Academy Press.),
• The University of Washington's "The 4-Digit Diagnostic Code," which ranks the four key features of FASD on a Likert scale of one to four and yields 256 descriptive codes that can be categorized into 22 distinct clinical categories, ranging from FAS to no findings,
• The Centers for Disease Control's "Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis," which established general consensus on the diagnosis FAS in the U.S. but deferred addressing other FASD conditions, and
• Canadian guidelines for FASD diagnosis, which established criteria for diagnosing FASD in Canada and harmonized most differences between the IOM and University of Washington's systems.

Each diagnostic system requires that a complete FASD evaluation include assessment of the four key features of FASD--prenatal alcohol exposure, FAS facial features, growth deficiency, and central nervous system damage. A positive finding on all four features is required for a diagnosis of FAS, the first diagnosable condition of FASD that was discovered. However, prenatal alcohol exposure and central nervous system damage are the critical elements of the spectrum of FASD, and a positive finding in these two features is sufficient for an FASD diagnosis that is not "full-blown FAS."

Diagnoses and diagnostic criteria will be described in detail in the next podcast.

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