A nine-month-old boy is not rolling over, reaching for objects or babbling as he should be. One step his doctor will not likely take right away: have him evaluated by a genetics specialist.
Almost three quarters of doctors surveyed said they would refer a child with these types of developmental delays to a specialist – but rarely a genetics specialist, University of Michigan researchers report in The Journal of Pediatrics.
“Children who show delays in reaching two or more developmental milestones like sitting up and babbling have a greater risk of a genetic disorder. The earlier we can detect genetic diseases, the earlier we can begin treatment that can help,” says lead author Dr. Beth Tarini, assistant professor of pediatrics at U-M’s C.S. Mott Children’s Hospital and researcher at the Child Health Evaluation and Research (CHEAR) Unit.
“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.”
Dr. Brian Zikmund-Fisher, associate professor of health behavior and health education at U-M SPH was a co-author on the study.
Genetic tests are usually done on blood and test children for specific diseases that may cause developmental delays, such as Fragile X syndrome, an abnormality on the X chromosome that causes severe mental delays. Genetic tests can also detect extra or missing pieces of genetic material that may be causing delays.
Researchers analyzed responses from nearly 450 doctors who were asked whether they would refer a boy with multiple developmental delays to a specialist or initiate testing (genetic or non-genetic), assuming insurance coverage was not a factor.
Their findings suggest that the first doctor a child sees for development problems may not immediately think of helping the family access genetic services despite the child’s increased risk of a genetic disorder.
“We need to understand the barriers that may prevent children with significant developmental delays from getting a genetic evaluation as soon as possible, so that we can get help to those who need it,” said Tarini.
Other co-authors on the study included Ms. Laurie Edmondson, and Ms. Wendy R. Uhlmann, of U-M; and Dr. Howard M. Saal of the University of Cincinnati College of Medicine.
For more information on the study, click here.