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Module 2: Effects of Alcohol on the Fetus

Diagnostic Issues

Diagnosing an FASD can be difficult. In 1996, the Institute of Medicine (IOM) published Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment, which described various fetal alcohol spectrum disorders and criteria for diagnosis. More recently, Hoyme and his colleagues have proposed clarification of the IOM criteria  Exit Disclaimer Graphic to refine the diagnostic process. Differential diagnosis is key in determining whether an individual has an FASD or another disorder with similar signs and symptoms.

The most difficult times to diagnose FASD are at birth, in adolescence, and in adulthood. However, Coles and colleagues found that it was possible to identify infants at risk for alcohol-related developmental delays using information available in the neonatal period.20 It may be difficult to diagnose infants with FAS because of indistinct facial features, and their inability to demonstrate most cognitive delays. Similarly, in many adolescents and adults with FAS, it is harder to recognize the physical features such as growth deficiencies and facial anomalies. Therefore, the ideal time to diagnose FAS appears to be in early grade school.

Growth deficiencies are typically identified at birth and in the first year of life. Some children reach normal weight and height for their age after puberty. Weight and height below the norm for the appropriate age group may lead to a diagnosis of FAS. However, genetic makeup and cultural norms need to be considered. Persons below the group norm for weight and height may be within the normal range for their family.

Because diagnosing FASD is so difficult, many individuals with an FASD are diagnosed and treated for individual symptoms or conditions, such as attention deficit disorder, rather than FASD. A co-occurring disorder may be noted and the prenatal alcohol exposure may be missed. Co-occurring disorders with FASD may include:

Doctor with young twin male patients

If an FASD is not recognized, misdiagnoses are common. This problem often occurs with adolescents and adults.

Diagnosis is more accurate if the birth mother confirms alcohol use during pregnancy and others can verify it. However, it may be difficult to obtain this information. Many women misjudge their drinking or fail to report drinking, due to stigma, guilt, shame, or denial. Physicians may be reluctant to inquire about drinking history because they do not feel equipped to address the problem. Many physicians lack training or confidence in their ability to recognize FASD.

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