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 earlythat 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, if one is available.
The study, published in Genetics in Medicine, reviewed medical charts from 316 patients seen at the UCLA from 2014-2019.
The patients were categorised based on their genetic testing results, then the researchers documented clinical factors that differentiated patients with and without a genetic diagnosis.
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.
About 75 per cent 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.
It is helpful to know that a delay in motor skills yields a very high likelihood of a genetic diagnosis, said authors.
An early genetic diagnosis can lead to managing or anticipating a medical co-occurrence such as congenital heart disease, a psychiatric illness, or information on a higher likelihood of experiencing seizures.
(With inputs from IANS)
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