Most fetal alcohol spectrum disorders go undiagnosed

By Anne Harding

NEW YORK (Reuters Health) - Nearly 90% of foster and adopted children with fetal alcohol spectrum disorders (FASD) have never been diagnosed, or have been misdiagnosed, according to a new study of young patients referred to a children's mental health center.

Dr. Ira Chasnoff and colleagues from Children's Research Triangle in Chicago found that 80% of the children they identified as having FASD had never been diagnosed, while 6.4% had been diagnosed with FASD, but given an incorrect diagnosis within the spectrum. "These high rates of missed diagnoses and misdiagnosis have significant implications for intervention and therapeutic services," Dr. Chasnoff and his team wrote January 12 online in Pediatrics.

The researchers decided to investigate rates of misdiagnosis and missed diagnoses of FASD after noting that many children with the disorders who were referred to their center had been diagnosed incorrectly. They looked at a sample of 547 charts drawn from about 3,000 medical records by clerks and interns with no information on history or diagnosis for any of the children.

Each child underwent a pediatric, neurologic, and dysmorphology examination by board-certified pediatricians experienced in diagnosing and treating patients with FASD, and had their prenatal alcohol exposure verified. Fifty-one of the 547 children in the study had been referred with a diagnosis of FASD, but 20 were found not to have any FASD diagnosis. Among the 156 children who were confirmed to have FASD, just 31 (19.9%) had an FASD diagnosis upon referral.

Changes in diagnosis also resulted in treatment changes, Dr. Chasnoff and his colleagues report.

"After the evaluation, significantly fewer children required the developmental therapy, physical therapy, and speech-language therapy that they had been receiving and instead needed services, especially family therapy, sensory integration treatment, and psychotherapy, that they previously had not been receiving," the authors write.

Medication recommendations also changed significantly. Eleven children found to have FASD were on stimulant medications for treating attention-deficit hyperactivity disorder, but after the evaluation these medications were recommended for just one of the children. Clinicians at Children's Research Triangle recommended stimulant medication for 22 children with FASD who had not previously been prescribed the drugs. Changes in psychotropic medications were also common after children had been evaluated.

"These findings suggest that FASD frequently go unrecognized; thus, education is most needed in overall awareness of FASD, with additional emphasis on differential diagnosis within the spectrum," the researchers write. "Once children and adolescents with FASD are recognized, there must be an immediate effort to obtain diagnostic and therapeutic services. Early diagnosis, especially before the age of six years, coupled with earliest intervention is one of the strongest correlates with an improved outcome for the child long-term."

Dr. Philip May, a research professor of nutrition at the University of North Carolina's School of Public Health in Chapel Hill, reviewed the study for Reuters Health. "Dr. Chasnoff and colleagues have documented a problem that we've known about for a long time, and this article provides empirical evidence that FASD are particularly underdiagnosed, but they're also misdiagnosed as other problems frequently," Dr. May told Reuters Health in a telephone interview.

"When we go out, as we did in the paper that we published recently, and examine children in the general population, we find that over 90% have never been diagnosed as having an FASD, so the missed part of the diagnosis we definitely concur with," he added.

Dr. Margaret Adam of the Division of Genetic Medicine at the University of Washington in Seattle, who is a pediatric dysmorphologist but did not participate in the new study, said she agreed with the findings of an American Academy of Pediatrics study cited in Dr. Chasnoff's report that found 50% of pediatricians were not comfortable making a diagnosis of FASD.

"It also depends on catchment areas and different attitudes toward further evaluation for kids who may have disabilities," she added, noting that she has observed "very different" referral patterns for FASD evaluations in different parts of the country.

Dr. Chasnoff did not respond to an interview request by press time.

This research was supported by the U.S. Department of Health and Human Services. The authors report no disclosures.

SOURCE: http://bit.ly/1EmTGIE

Pediatrics 2015.

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