The diagnosis of fetal alcohol syndrome.
BACKGROUND
The estimated prevalence of fetal alcohol syndrome (FAS) is 8 for every 1000 live births. FAS has serious, lifelong consequences for the affected children and their families. A variety of professionals deal with persons who have FAS, including pediatricians, general practitioners, neurologists, gynecologists, psychiatrists, and psychotherapists. Early diagnosis is important so that the affected children can receive the support they need in a protective environment.


METHODS
A multidisciplinary guideline group has issued recommendations for the diagnosis of FAS after assessment of the available scientific evidence. This information was derived from pertinent literature (2001-2011) retrieved by a systematic search in PubMed and the Cochrane Library, along with the US-American and Canadian guidelines and additional literature retrieved by a manual search.


RESULTS
Of the 1383 publications retrieved by the searches, 178 were analyzed for the evidence they contained. It was concluded that the fully-developed clinical syndrome of FAS should be diagnosed on the basis of the following criteria: Patients must have at least one growth abnormality, e.g., short stature, as well as all three characteristic facial abnormalities-short palpebral fissure length, a thin upper lip, and a smooth philtrum. They must also have at least one diagnosed structural or functional abnormality of the central nervous system, e.g., microcephaly or impaired executive function. Confirmation of intrauterine exposure to alcohol is not obligatory for the diagnosis.


CONCLUSIONS
Practical, evidence-based criteria have now been established for the diagnosis of the fully-developed FAS syndrome. More research is needed in order to enable uniform, evidence-based diagnostic assessment of all fetal alcohol spectrum disorders and optimize supportive measures for the children affected by them.
Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich.
Mirjam N
MN
Landgraf
Monika
M
Nothacker
Ina B
IB
Kopp
Florian
F
Heinen
D001927:Brain Diseases / Q000175:diagnosis*; D019317:Evidence-Based Medicine; D005145:Face / Q000002:abnormalities*; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis*; D006801:Humans; D010808:Physical Examination / Q000592:standards*; D017410:Practice Guidelines as Topic; D011296:Prenatal Diagnosis / Q000379:methods*