The National Institute of Health (NIH) has released the new proposed clinical guidelines for diagnosing fetal alcohol spectrum disorders (FASD). The guidelines are a clarified and expanded form of the ones issued in 2005 and aim to help doctors better distinguish between the four FASD subtypes.
It took a group of FASD experts over a year to make the update and the guidelines are based on an analysis of over 10,000 patients involved in studies of prenatal alcohol exposure.
In Brief: Fetal Alcohol Spectrum Disorders (FASD)
“Fetal alcohol spectrum disorder” refers to a collection of symptoms and disabilities that can come from alcohol exposure before birth. These include low IQ, stunted growth, microcephaly (small head size), certain characteristic facial deformities, attention deficits, poor impulse control, and issues with mood and behavioral regulation. FASD is caused by drinking during pregnancy and the risk is dose-dependent, with more drinking equaling more risk. There are four subtypes of FASD:
- Fetal alcohol syndrome (FAS), where children show the most profound symptoms and deformities
- Partial fetal alcohol syndrome (PFAS), where children show both physical and neurological characteristics but not all
- Alcohol-related neurodevelopmental disorder (ARND), where children show cognitive or behavior impairments but no physical signs
- Alcohol-related birth defects (ARBD), where children show physical deformities but no neurological symptoms
The New Guidelines
The updated guidelines offer more clarity on diagnosing FASD by giving clinicians more specifics on how different elements of the syndrome can be identified.
Prenatal Alcohol Exposure?
The proposed guidelines specify that prenatal alcohol exposure can be confirmed when either the mother or a reliable source reports six or more drinks per week for at least two weeks during the pregnancy. Other accepted indicators include having three or more drinks in a single occasion two or more times when pregnant or having a documented alcohol-related social or legal problem (e.g.: drunk driving) during the pregnancy.
Another key part of the new proposal is more specific guidelines for identifying the physical traits associated with FASD. For example, a guide for determining abnormalities in the lip and philtrum (the groove between nose and upper lip) are included since a thin upper lip and a flattening of the philtrum are known physical signs. Tables are included which contain a scoring system for the lip, philtrum, and other characteristic physical deformities.
Cognition, Behavior, and Epilepsy
The guidelines now specifically state that, with the exception of ARBD cases, all FASD patients show behavioral or cognitive abnormalities that can’t be explained by genetics or (non-alcohol) environmental causes. Previously, children with the facial features, stunted growth, and other physical signs, but not the birth defects of neurodevelopmental issues, could be diagnosed with FASD. Recurrent seizures or epilepsy have also been added as potential evidence of FAS or PFAS thanks to new evidence that shows epilepsy to be more common in children with FASD.
Fetal alcohol spectrum disorders represent the leading cause of preventable developmental disabilities worldwide. Within the U.S., recent studies of schoolchildren suggest that two to five percent of kids in the U.S. show some sign of prenatal alcohol exposure. No amount of alcohol during pregnancy can be considered without risk and there is no safe period during the pregnancy where alcohol can be consumed.
“NIH releases improved guidelines for diagnosing fetal alcohol spectrum disorder,” National Institute of Health web site, August 10, 2016; https://www.niaaa.nih.gov/news-events/news-releases/nih-releases-improved-guidelines-diagnosing-fetal-alcohol-spectrum, last accessed August 11, 2016.