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NIH updates guidelines on fetal alcohol spectrum diagnoses
The NIH has released a proposed update to its guidelines for diagnosing fetal alcohol spectrum disorders, including a new definition of documented prenatal alcohol exposure, guides to evaluating related facial and physical deformities, and new information regarding cognitive and behavioral impairments reported in various subtypes.
The update, developed by a group of experts organized by the NIH’s National Institute on Alcohol Abuse and Alcoholism (NIAAA), expands upon the institute’s 2005 guidelines on fetal alcohol spectrum disorders (FASD), which, according to officials, were the first to help clinicians distinguish between its four distinct subtypes.
“These new guidelines will be a valuable resource for clinicians to accurately diagnose infants and children who were affected by alcohol exposure before birth,” NIAAA Director George F. Koob, PhD, said in a press release. “They represent the most data-driven diagnostic criteria for fetal alcohol syndrome and fetal alcohol spectrum disorder produced to date.”
Members of the Collaboration on FASD Prevalence, which studies the rate of FASD among U.S. school children, and the NIAAA’s Collaborative Initiative on Fetal Alcohol Spectrum Disorders, which investigates data-based methods for diagnosing FASD, developed the guidelines over 1 year. The researchers analyzed NIAAA-funded studies of prenatal alcohol exposure, involving more than 10,000 children in clinical settings.
Among the updates found in the new guidelines, published in Pediatrics, is a more precise definition of documented prenatal alcohol exposure. According to the guideline, exposure can be confirmed when a mother or reliable source reports six or more drinks per week for at least 2 weeks during pregnancy; three or more drinks per occasion on two or more occasions while pregnant; or has documented alcohol-related social or legal problems during pregnancy, among other indicators.
In addition, the new guidelines help clinicians better diagnose FASD based on physical traits, by including steps on assessing lip/philtrum abnormalities and a table detailing the scoring system for common physical deformities, based on their prevalence in 370 symptomatic children.
The guidelines now also note that all children with FASD, with the exception of those with alcohol-related birth defects, will display cognitive or behavioral impairments. This is a change from the 2005 guidelines, which allowed for children with typical facial features, growth restriction or microcephaly to be diagnosed with FASD without neurobehavioral impairment.
Recurrent seizures or epilepsy have also now been included as potential signs of fetal alcohol syndrome or partial fetal alcohol syndrome, based on evidence that epilepsy is often reported in patients with FASD.
“We’re hopeful that the improved specificity of these guidelines will help clinicians to assess FASD better, thereby leading to early intervention for affected children,” H. Eugene Hoyme, MD, a professor at the Sanford School of Medicine, University of South Dakota, and the guidelines’ first author, said in a press release. Hoyme was also the first author of the 2005 guidelines.
The authors note in the guidelines that FASD is best diagnosed using a multidisciplinary approach, including an assessment by a pediatrician or clinical geneticist, and an expert neuropsychological and behavioral assessment. In addition, a skilled interviewer should evaluate the mother to determine the extent of drinking during pregnancy.
According to the NIH, recent studies suggest that the prevalence of FASD may be higher than previously thought, with 2% to 5% of U.S. children showing signs of prenatal alcohol exposure, which can result in lower IQ, restricted growth, small head size, facial deformities and behaviors issues including attention deficit, poor impulse control and the inability to regulate mood.
The four diagnostic subtypes of FASD are fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder and alcohol-related birth defects.
“These four diagnostic categories remain the most apt descriptors of the range of disabilities observed within the continuum of FASD,” Kenneth R. Warren, PhD, senior advisor to the NIAAA director and coauthor of the new guidelines, said in a press release. “We have refined the guidelines to reflect our collective expertise gained through the evaluation of more than 10,000 children in domestic and international venues.”
Additional reading:
http://pediatrics.aappublications.org/content/138/2/e20154256