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The diagnosis of fetal alcohol syndrome
Mirjam N Landgraf1, Monika Nothacker, Ina B Kopp
1Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich.
Insights
New guidelines establish evidence-based criteria for diagnosing Fetal Alcohol Syndrome (FAS). Early diagnosis is crucial for affected children to receive necessary support and interventions.
Area of Science:
- Medical Diagnostics
- Pediatrics
- Public Health
Background:
- Fetal Alcohol Syndrome (FAS) affects 8 in 1000 live births, causing lifelong challenges.
- Early diagnosis is critical for providing support to affected children and families.
- Numerous medical professionals are involved in the care of individuals with FAS.
Purpose of the Study:
- To establish practical, evidence-based diagnostic criteria for Fetal Alcohol Syndrome (FAS).
- To provide a clear framework for healthcare professionals to diagnose FAS.
Main Methods:
- A multidisciplinary guideline group systematically reviewed scientific literature from 2001-2011.
- Searches included PubMed, Cochrane Library, and US/Canadian guidelines.
- 178 of 1383 retrieved publications were analyzed.
Main Results:
- FAS diagnosis requires at least one growth abnormality (e.g., short stature).
- All three facial abnormalities (short palpebral fissure, thin upper lip, smooth philtrum) must be present.
- At least one central nervous system abnormality (e.g., microcephaly) is necessary; alcohol exposure confirmation is not obligatory.
Conclusions:
- Practical, evidence-based criteria for diagnosing fully-developed FAS are now available.
- Further research is needed for uniform diagnosis of all fetal alcohol spectrum disorders.
- Optimizing supportive measures for affected children requires continued investigation.
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.
Conclusion:
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.
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