Diagnostic Guidelines for Fetal Alcohol Syndrome Updated

Nancy A. Melville

August 15, 2016

Updates to diagnostic guidelines for fetal alcohol spectrum disorders (FASD) have been proposed. The proposed guidelines reflect evolving consensus on issues ranging from criteria constituting prenatal exposure to alcohol to more specified identification of neurobehavioral and physical features distinctive of the syndrome.

"Over the [past] decade, the specific cognitive and behavioral characteristics of children with FASD have become much better defined," first author H. Eugene Hoyme, MD, chief of genetics and genomic medicine at Sanford Health, and professor of pediatrics at Sanford School of Medicine of the University of South Dakota, in Sioux Falls, told Medscape Medical News.

"Thus, the primary updates in the current paper relate to specifying improved and data-driven cognitive and neurobehavioral characteristics for diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder."

The proposed updates, compiled by a multidisciplinary team of experts organized by the National Institute on Alcohol Abuse and Alcoholism to expand upon practice guidelines previously issued in 2005, are based on the evaluation of more than 10,000 children for possible FASD in clinical settings and on epidemiologic studies.

They are published in the August issue of Pediatrics.

Definition of Exposure

Among key proposed updates is a clarified definition of documented prenatal alcohol exposure, which, as the first step in the diagnostic process, is considered essential.

The new guideline for exposure is defined as a report from the mother or a reliable source of consumption of 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 a documented alcohol-related social or legal problem during pregnancy.

In addition, new neurobehavioral criteria indicate that all children with FASD will display cognitive or behavioral impairments, with the exception of those with alcohol-related birth defects. Under previous guidelines, a diagnoses of FASD could be made in children with typical facial features, growth restriction, and/or microcephaly, even in the absence of neurobehavioral impairment.

"Because neurocognitive impairment and abnormal behavior are the principal sources of disability in FASD, assignment of children with prenatal alcohol exposure into an FASD category without neurobehavioral impairment has no practical utility for either the child or the child's family," the authors write.

Updates involving the assessment of typical physical traits of FASD include specifics on abnormalities of the lip and philtrum that are distinctive of the syndrome and a more comprehensive dysmorphology scoring system that allows for the quantitative analysis of major and minor structural abnormalities in children with FASD.

On the basis of mounting research indicating that FASD is commonly accompanied by epilepsy, the proposed guidelines also include recurrent nonfebrile seizures or epilepsy as possible symptoms of fetal alcohol syndrome or partial fetal alcohol syndrome.

Fetal alcohol syndrome was first described in its most severe form in 1973. The broader definition of FASD was set forth by the Institute of Medicine in 1996 and consists of four distinct diagnostic categories: fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol-related neurodevelopmental disorder (ARND), and alcohol-related birth defects (ARBD).

Many Misconceptions

Despite the definitions, there still tends to be some confusion in pediatrics about the syndrome.

"There are many misconceptions. Among these are that FASD occurs only in the offspring of women with chronic alcoholism ― in fact, most children are born to women who are weekend binge drinkers ― and that FASD occurs only in the offspring of women from racial and ethnic minorities and of low socioeconomic backgrounds. Population-based prevalence studies in the US clearly demonstrate that this spectrum of disabilities cuts across racial and socioeconomic strata," said Dr Hoyme.

Other misconceptions include the belief that low levels of drinking are safe in pregnancy. In fact, the odds of having a child with FASD are 12 times higher with drinking only in the first trimester and are 65 times higher with drinking in all trimesters.

Additionally, some may mistakenly believe that once a diagnosis of FASD is made, nothing can be done for the child. However, "as with other developmental disorders, early diagnosis and initiation of appropriate early intervention services can greatly improve outcome," said Dr Hoyme.

Because as many as half of mothers who have a child with FASD go on to have others, pediatricians should take key measures to intervene when a first diagnosis is made, Dr Hoyme underscores.

"First, the biological mother of a newly diagnosed child should be counseled with support and compassion to stop drinking," he said.

"Second, the child should be referred for early intervention services if the child is less than 3 years. If the child is older, a referral for diagnostic testing and special education services should be made through the school district.

"Finally, each child needs a medical home, especially children with FASD. This will ensure that all aspects of the child's health and development are thoroughly and regularly assessed and that appropriate referrals are made."

Dr Hoyme and coauthors have disclosed no relevant financial relationships.

Pediatrics. Aug 2016, Vol 138. Abstract


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.