Overview of the Diagnostic Process
The management of fetal alcohol syndrome and fetal alcohol spectrum disorders starts with a diagnostic evaluation that consists of both making the diagnosis of an FASD and also ensuring that the family understands the individual's unique medical and neurobehavioral needs. A typical FASD evaluation is performed by a team consisting of a primary care clinician or developmental pediatrician, psychologist, social worker and speech-language pathologist. The team may also include an occupational therapist or educational specialist. There are pediatricians who can diagnose an FASD based on the Institute of Medicine recommendations (Institute of Medicine, 1996) or the CDC FAS Guidelines for Referral and Diagnosis (CDC, 2004). However, in many cases it is important to have a geneticist evaluate the individual for other genetic conditions that may be present in addition to an FASD or that could mimic the presentation of an FASD.
Because FASDs can affect the facial structure, growth, central nervous system, and other organ systems of the individual, appropriate medical referrals should be pursued as needed. For example, some individuals with FASD may have sensorineural hearing loss, vision problems or cardiac abnormalities that may require the help of additional specialists. Failure to thrive and short stature may require evaluation by a gastroenterologist, endocrinologist, and nutritionist. The FASD diagnostic process can be viewed as part of a continuum of care that helps identify and facilitate the appropriate health care, education and community services for the child and for the family. While there is no cure for FASDs, several strategies to mitigate secondary disabilities may be helpful for individuals and their families beginning in infancy and continuing through adulthood.
Assessment for Secondary Conditions
Individuals with an FASD are at risk for secondary conditions such as Attention Deficit Hyperactivity Disorder and anxiety that may necessitate psychopharmacologic intervention. In these cases, appropriate interventions include involvement from child psychiatrists, developmental pediatricians, neurologists and/or other mental health professionals. An interdisciplinary approach often helps in the overall management of a child with an FASD.
FAS requires documentation for ALL THREE of the following finding:
Three facial features or abnormalities including smooth philtrum, thin vermillion border, and small palpebral fissures. (Graphic below)
Central Nervous System abnormality
Note: Confirmed prenatal alcohol use can strengthen the evidence for an FAS diagnosis, but is not necessary in the presence of all other criteria.