3. Can behavioral or cognitive features be used to define the disorder?
4. Is there a role for ancillary measures (e.g., magnetic resonance imaging [MRI]) in making the diagnosis?
5. Can criteria be designed to be used across the life span?
6. What is the relationship of so-called fetal alcohol effects to fetal alcohol syndrome?
The committee studied the previous diagnostic criteria and felt that some of the issues confusing the clinical and research communities could be resolved with fairly minor changes (Table 1). The committee delineates five diagnostic categories. The rubric of Fetal Alcohol Syndrome contains criteria for (Category 1) FAS with a history of maternal alcohol exposure, (Category 2) FAS without a history of maternal alcohol exposure, and (Category 3) partial FAS with a history of maternal alcohol exposure. The naming of this diagnostic category was challenging for the committee, who found no perfect solution. The committee intends for this diagnostic category to include people with signs and symptoms attributable to significant prenatal alcohol exposure and who need medical, social services, and other attention. "Partial" denotes, to some people, that the condition might not be as severe, which the committee did not wish to imply. The committee settled on the use of "partial" despite these reservations.
Category 3 allows an FAS diagnosis to be given to someone who would not receive a Category 1 diagnosis, FAS with confirmed maternal alcohol exposure. A Category 3 diagnosis could be particularly useful, for example, for some patients who present for diagnosis as an adult. The natural history of FAS is such that some of the "hallmark" indicators used in infancy or childhood are not maintained into adolescence or adulthood. This diagnosis can also be used as a "holding" category as a means to defer a diagnosis of Category 1, FAS with confirmed maternal history of alcohol exposure, until more data collection or evaluation, including documentation as to whether behavioral and cognitive abnormalities persist over time, can support a more definitive diagnosis. In the newborn, for example, there is some controversy whether some behavioral abnormalities, such as abnormalities of state regulation, indicate or predict long-term dysfunction due to fetal alcohol exposure. In such cases, documentation of abnormalities over time would be important.
The committee has defined two other diagnostic categories: Category 4, alcohol-related birth defects (ARBD; physical anomalies only), and Category 5, alcohol-related neurodevelopmental disorder (ARND). Diagnostic categories 4 and 5 include clinical conditions for which clinical or animal research has linked maternal alcohol ingestion to an observed outcome. These final two diagnostic categories are intended to represent some degree of uncertainty whether prenatal alcohol exposure caused the adverse effects documented in an individual patient, or whether other factors were causative in this case. Because of the variability in the specific presentation of FAS, ARBD, or ARND, these diagnoses are most