An expert panel has proposed clinical guidelines for diagnosing fetal alcohol syndrome disorder (FASD), expanding upon the first guidelines from 2005 that helped distinguish the four subtypes of FASD. The full guidelines have been published in the journal Pediatrics

In 1996, the Institute of Medicine established four diagnostic categories within FASD:

  • Fetal alcohol syndrome (FAS)
  • Partial fetal alcohol syndrome (PFAS)
  • Alcohol-related neurodevelopmental disorder (ARND)
  • Alcohol-related birth defects (ARBD)

The updated guidelines were developed by the Collaboration on FASD Prevalence (CoFASP) based on an analysis of 10,000 patients involved in studies of prenatal alcohol exposure. The guidelines propose the inclusion of a new definition for documented prenatal exposure, guides to evaluating facial and physical deformities characteristic of FASD, and updated information on the cognitive and/or behavioral impairments seen in different FASD subtypes. 

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Documented prenatal alcohol exposure can be confirmed when a mother or a reliable source reports ≥6 drinks per week for ≥2 weeks during pregnancy; ≥3 drinks per occasion on ≥2 occasions while pregnant; or has documented alcohol-related social or legal problem during pregnancy among other indicators. Also, the guidelines include a table describing the scoring system for characteristic physical deformities as well as a guide to assess lip/philtrum abnormalities.

Experts now note that all children with FASD except those with ARBD will show cognitive or behavioral impairments. Recurrent seizures or epilepsy have been updated in the new guidelines as potential evidence of FAS or PFAS. 

Study authors emphasize that diagnosing FASD is best achieved via a multidisciplinary approach. This includes a medical assessment by a pediatrician or a clinical geneticist, and a neuropsychological and behavioral assessment. In addition, the mother should be evaluated by a skilled interviewer to establish the extent and timing of drinking during pregnancy. 

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