Sanford Physician Works with NIH to Develop Expert Consensus Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

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Dr. Eugene Hoyme authors study published by Pediatrics

Gene Hoyme, M.D.

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.

A group of experts led by Sanford Health’s Eugene Hoyme, M.D., has developed proposed updated clinical guidelines for diagnosing fetal alcohol spectrum disorders based on an analysis of 10,000 individuals involved in studies of prenatal alcohol exposure. The study was organized, endorsed and funded by the National Institutes of Health’s National Institute on Alcohol Abuse and Alcoholism and appears online in Pediatrics.

The study is titled “Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders.” Amy Elliott, Ph.D., director of the Center for Health Outcomes and Population Research at Sanford Research, was a contributing author. Hoyme and Elliott also hold professorial appointments in the Department of Pediatrics of the University of South Dakota Sanford School of Medicine.

The new guidelines clarify and expand upon widely used guidelines published in 2005, which were the first to help clinicians distinguish among the four distinct subtypes of fetal alcohol spectrum disorders, or FASD, described by the Institute of Medicine. The study includes a new definition of documented prenatal alcohol exposure, guides to evaluating facial and physical deformities characteristic of FASD and updated information about the cognitive and behavioral impairments seen in different FASD subtypes.

The updated parameters were developed and accepted by the Collaboration on FASD Prevalence, which studies the incidence of FASD among U.S. school children, and the National Institute on Alcohol Abuse and Alcoholism Collaborative Initiative on Fetal Alcohol Spectrum Disorders, which investigates data-driven methods for diagnosing FASD.

FASD is the umbrella term for the range of disabilities that can result from prenatal alcohol exposure. It is the leading cause of preventable developmental disabilities in the world. As a result of alcohol exposure in the womb, children can have lower IQ, restricted growth, small head size, a characteristic pattern of facial deformities and behavioral issues such as attention deficit, poor impulse control and the inability to regulate mood and behavior.

“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,” said Hoyme, who was also the first author on the 2005 guidelines also published in Pediatrics.

Recent studies of school-age children suggest that the prevalence of FASD may be higher than previously thought, with 2 percent to 5 percent of the children in the United States showing signs of prenatal alcohol exposure. The American Academy of Pediatrics notes that no amount of alcohol intake during pregnancy can be considered safe; there is no safe trimester to drink alcohol; all forms of alcohol pose a similar risk; and binge drinking poses a dose-related risk to the fetus.

The Pediatrics study indicated that diagnosis of FASD is best accomplished using a multidisciplinary approach. This requires a medical assessment of the child by a pediatrician or clinical geneticist and an expert neuropsychological and behavioral assessment. A skilled interviewer should evaluate the mother to determine the extent and timing of drinking during pregnancy.

Hoyme, who is internationally known for his work in pediatrics and medical genetics, is chief of genetics and genomic medicine for Sanford Health. He is an Augustana University alumnus who earned his medical degree from the University of Chicago Pritzker School of Medicine. Earlier this year, Hoyme received the David W. Smith Award for Excellence in Genetics and Birth Defects Education, an honor bestowed by the American Academy of Pediatrics to recognize members with a long and distinguished history as educators in the genetics and birth defects arena. Hoyme is also the recipient of the National Organization on Fetal Alcohol Syndrome’s Excellence Award, joining the ranks of past recipients that include senators John McCain and the late Edward M. Kennedy.

About Sanford Health
Sanford Health is an integrated health system headquartered in the Dakotas. It is one of the largest health systems in the nation with 43 hospitals and nearly 250 clinics in nine states and four countries. Sanford Health’s 27,000 employees, including 1,400 physicians, make it the largest employer in the Dakotas. Nearly $1 billion in gifts from philanthropist Denny Sanford have allowed for several initiatives, including global children's clinics, genomic medicine and specialized centers researching cures for type 1 diabetes, breast cancer and other diseases. For more information, visit sanfordhealth.org.

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Tim Gerszewski
Sanford Health
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