Table 2.

As clinicians assess the performance of FASD diagnostic guidelines, clinicians should ask the following questions [11]

Have properly designed studies been published to confirm the case definition for the FAS facial phenotype is highly specific (>95%) to FAS and alcohol (e.g. observed only among individuals with prenatal alcohol exposure and FAS)? If the FAS facial phenotype is not highly specific to prenatal alcohol exposure, FAS cannot be diagnosed when prenatal alcohol exposure is unknown Was data used to empirically derive the diagnostic guidelines? Was the data drawn from a large, representative, population-base? Has the performance of the guidelines been empirically assessed (validated)? Individuals are born with FAS/D. Can the diagnostic system identify FAS/D at birth and across the lifespan? Growth deficiency, the FAS facial phenotype, CNS abnormalities, and alcohol exposure all present along clinically meaningful continuums. The FAS facial phenotype is not just present or absent. The brain is not just normal or abnormal. Do the Guidelines recognize/incorporate these important continuums? Do the guidelines produce clinically distinct subgroups across the full spectrum (FAS, PFAS, SE/AE, ND/AE)? Do brain imaging studies identify statistically significant contrasts between the FASD subgroups? Individuals with FAS have more severe CNS dysfunction than individuals with “ARND”. Do the Guidelines generate FAS and “ARND” groups that demonstrate this important contrast? Do individuals who meet the criteria for FAS actually have FAS? Can the guidelines detect unique alcohol exposure patterns between the FASD subgroups? Can the diagnostic system be effectively and efficiently taught to interdisciplinary teams? Are the guidelines confirmed to be reproducible? If two clinics use the guidelines, do they render the same diagnoses? Do families report high satisfaction/confidence with the diagnostic process/outcome? Are the names of the diagnoses (FAS, PFAS, SE/AE, ND/AE) medically valid? Do they imply causality between alcohol and outcome that cannot be confirmed in the individual patient? Do diagnoses under the umbrella of FASD qualify patients for intervention services that lead to improved outcomes?