A clinical report published by the American Academy of Pediatrics in June recommends that pediatricians evaluate children as early as possible for global developmental delays/intellectual disabilities. Genetic disorders account for up to 50% of diagnoses of developmental delays and intellectual disabilities.
Diagnosing the causes as early as possible provide multiple benefits, the report’s writers note, including planning for the future, surveillance of related complications, accurate recurrence risk, and diagnosis-specific therapies and treatment. Identification can also improve clinical care, guide family planning, reduce the need for additional testing, and offer access to condition-specific resources and clinical trials, according to the report.
The guidelines recommend that pediatricians include a full medical, developmental, and family history and clinical exam in the evaluation, as well as vision and hearing exams and brain imaging as warranted, according to an article in Disability Scoop.
If the evaluation turns up a potential diagnosis, the pediatrician should use more targeted genetic testing to save time and money. Otherwise, the report describes a tiered approach:
As noted in Contemporary Pediatrics, the report is intended to serve as general guidance for primary care pediatricians but does not preclude the need for input from specialists. “The general guidance in this report for genetic testing does not preclude further evaluation by relevant subspecialists as necessary, including neurologists, developmental pediatricians, and clinical geneticists,” according to the report authors.
“Genetic testing is no longer something that should be considered a last resort. These tests provide real answers that can directly impact the care and support children and families receive,” said Joan Stoler, MD, a clinical geneticist at Boston Children’s Hospital, Boston, and an author of the report, in a Medscape Today article.
Sherri Alms is the freelance editor of The OARacle, a role she took on in 2007. She has been a freelance writer and editor for more than 20 years.
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