Fetal Alcohol Syndrome Underdiagnosed in Children

Laura Putre

February 10, 2015

Fetal alcohol syndrome (FAS) is widely underdiagnosed in young children, preventing them from receiving crucial support services early in life, a new study finds.

Deborah J. Fox, MPH, from New York State's Bureau of Environmental and Occupational Epidemiology, Albany, and colleagues assessed a period prevalence of FAS among children aged 7 to 9 years in Arizona, Colorado (Denver-Boulder Consolidated Metropolitan Statistical Area), and 9 counties in western New York. They report their findings in the January 30 issue of the Morbidity and Mortality Weekly Report.

The researchers analyzed data from genetic and developmental clinics, hospital discharge files, Medicaid claims, health maintenance organization records, and the juvenile justice system. The records-based assessment reported a 0.3 to 0.8 prevalence of FAS per 1000 live births.

In contrast, a 2014 in-person study reports that between 6 and 9 children per 1000 in a community cohort had FAS, and another 11 to 17 per 1000 children have partial FAS. In that study, the researchers personally examined children's physical growth, development, dysmorphology, cognition, and behavior in a sample of small children (ie, those in the 25th percentile or lower category on height, weight, and head circumference) and randomly chosen control candidates.

"Generally, records-based birth prevalence studies report estimates of 0.2–1.5 per 1,000 live births, whereas studies that use in-person, expert assessment of school-aged children in a community report estimates of 6–9 per 1,000 population," the authors write.

Fox and colleagues note that factors influencing the discrepancy could include clinicians not properly trained to recognize the physical and behavioral characteristics of FAS, insufficient documentation of those characteristics in medical records, and failure to look into prenatal alcohol exposure as a possible cause of learning and behavior problems.

"That these factors might contribute to the discrepancy is supported by the findings of a survey of pediatricians published in 2006 in which more than two-thirds of respondents reported a lack of training as the primary reason for not making a FAS diagnosis," the authors write. More than half of pediatricians surveyed said they did not have formal training on recognizing, diagnosing, or treating FAS. Two thirds thought the diagnosis would stigmatize, rather than help, the child.

"The lack of training has a cascading affect," Fox and colleagues observe. "[C]linicians do not recognize and document physical and behavioral characteristics that might lead to a more complete clinical evaluation."

In 2014, the Centers for Disease Control and Prevention funded six Fetal Alcohol Spectrum Disorders Practice and Implementation Centers. Two of the centers, through a partnership with the American Academy of Pediatrics, will focus on pediatrician training. Developing practice guidelines for pediatricians and more widely disseminating criteria and best practices will help improve diagnosis, documentation, and clinical management of children with FAS, the authors explain.

Fox and colleagues also suggest that linking maternal prenatal records to a child's birth or neonatal records, something that is not routinely done, could improve diagnosis because physicians would be more informed about prenatal alcohol exposure.

Proper population surveillance of FAS is important to planning clinical, behavioral, and educational support services for children with FAS and their families, reducing the risk for secondary conditions.

The authors have disclosed no relevant financial relationships.

Morb Mortal Wkly Rep. 2015;64:54-57. Full text

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