Misdiagnosis and missed diagnosis in foster and adopted children with prenatal alcohol exposure
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Investigators from the Children’s Research Triangle (CRT) in Chicago assessed the rate of misdiagnoses and missed diagnoses of fetal alcohol spectrum disorders (FASD) among foster or adopted children. CRT is a mental health center that specializes in evaluation and treatment of high-risk children. Children referred to CRT receive a comprehensive multidisciplinary examination that includes general medical and dysmorphology assessment and neurologic, neurodevelopmental, and psychological evaluations. CRT clinicians use DSM criteria for FASD diagnoses: fetal alcohol syndrome (FAS) when growth impairment, facial dysmorphology, and neurodevelopmental deficits are present; partial FAS (pFAS) if prenatal alcohol exposure, facial dysmorphology, and neurodevelopmental deficits are present but growth impairment is absent; alcohol-related birth defects (ARBD) if prenatal alcohol exposure and major structural abnormalities are present but growth and neurodevelopment impairments are absent; and alcohol-related neurodevelopment disorder (ARND) if prenatal alcohol exposure and neurodevelopment deficits are present but growth impairment and facial dysmorphology are absent.

All adopted or foster children aged 4–18 years referred to the CRT clinic for comprehensive evaluation were eligible for the study. The investigators compared the prereferral FASD diagnoses with diagnoses after CRT evaluation (ie, postreferral) among a random sample of eligible patients using their medical charts. They also determined the frequency and type of management changes that occurred if prereferral diagnoses were altered.

There were 547 participants selected from approximately 3,000 charts. Of these, 36 (6.6%) were referred with a diagnosis of FAS and 15 for ARND (2.7%). The most common prereferral diagnosis was ADHD (n = 42; 26.4%). After CRT evaluation, 156 participants (28.5%) met criteria for FASD: 93 with FAS, 1 with pFAS, 1 with ARBD, and 61 with ARND. Of these, only 31 (19.9%) had a prereferral FASD diagnosis. Among the 36 children with FAS prereferral, only 16 met FAS criteria postreferral, 7 met criteria for ARND, and 13 did not meet any alcohol-related diagnosis. Changes to prereferral diagnoses resulted in significantly fewer children needing developmental, physical, and speech/language therapies and significantly more children needing family therapy, sensory integration treatment, and psychotherapy.

The authors conclude that FASD diagnoses are often missed or misdiagnosed.

Dr Todd has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

In 1996, the Institute of Medicine stated “of all the substances of abuse, including heroin, cocaine and marijuana, alcohol produces by far the most serious neurobehavioral effects in the fetus.” Unfortunately, alcohol use during pregnancy remains high in the United States with 7.6% of pregnant women reporting alcohol use and 1.4% reporting binge drinking. FASD, the spectrum of physical, developmental, and behavioral deficits caused by prenatal exposure to alcohol, is common in the United States with estimates as high as 2%–5% of the population.

The prevalence of...

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