In a new study, UCLA Health researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders.
University of California - Los Angeles Health SciencesOct 12 2024
With genetic testing, a diagnostic result can have benefits on medical care, but we don't have established clinical guidelines on the early neurodevelopmental signs that classify who gets genetic testing or not." Dr.
The researchers found that, overall, patients with a genetic diagnosis were more likely to be female and receive early intervention services for a history of motor delay, low muscle tone, and/or congenital heart disease. Of the study group, 75% of patients with motor delay had a genetic diagnosis, and in patients without motor delay, low muscle tone and age of walking were other indicators for a genetic diagnosis.
"This study takes us a step closer to developing evidence-based guidelines for genetic testing in neurodevelopmental disorders," said Dr. Aaron Besterman, study senior author and former UCLA Health Postdoctoral Researcher who's now a health sciences associate clinical professor at the UCSD Department of Psychiatry.
Children Congenital Heart Disease Diagnostic Genetics Heart Heart Disease Medicine Muscle Research
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