In Evaluating Developmental Delays, Genes Often Overlooked
Despite a high likelihood that genetic issues could be at play in children with developmental delays, researchers say most doctors aren’t inclined to refer families for such testing.
In a survey of nearly 450 primary care doctors, about three-quarters of physicians said they would recommend a child displaying multiple developmental delays see a specialist without conducting testing, according to findings published online this week in The Journal of Pediatrics.
For the study, doctors were asked what initial steps they would take if presented with a 9-month-old boy who isn’t rolling over, reaching for objects or babbling. Physicians were told to assume that insurance coverage was not a concern.
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Just 1 in 5 said they would conduct testing and 4 percent said they would conduct testing and refer to a specialist.
More than half of doctors surveyed said they would refer families to a developmental pediatrician, while only 5 percent said they would recommend a geneticist, the study found.
Researchers said the findings are troubling.
“Children who show delays in reaching two or more developmental milestones like sitting up and babbling have a greater risk of a genetic disorder,” said Beth Tarini, an assistant professor of pediatrics at the University of Michigan who led the study.
“We found that few primary care physicians would order genetic testing or refer a child to a genetics specialist as a first step when they see children with developmental delays. This may slow down the process to finding and treating the problem,” Tarini said.