Motor delay and low muscle tone are common signs of an underlying genetic diagnosis in children with neurodevelopment disorders, scientists have found.
The researchers from University of California-Los Angeles (UCLA) Health Sciences aimed to research which factors in this subset of children indicated the need of a genetic test.
“With genetic testing, a diagnostic result can have benefits on medical care, but we don’t have established clinical guidelines on the early neuro-developmental signs that classify who gets genetic testing or not”, said Dr Julian Martinez, medical geneticist at UCLA Health.
Knowing the early neurodevelopment symptoms that signal for a genetic diagnosis can benefit both a patient’s family and doctor.
A patient’s family can advocate to see a geneticist, and a geneticist provides testing that can potentially give a positive genetic diagnosis, which can help with monitoring the onset of other medical concerns or provide an opportunity to start a treatment for the specific genetic condition, …