THE ESSENTIAL
- Children with a genetic diagnosis were more likely to be girls and have a history of motor delay, hypotonia and congenital heart disease.
- The analysis revealed that 75% of participants with motor delay had received a genetic diagnosis.
- In patients without motor delay, hypotonia and walking age were important indicators of a genetic diagnosis.
There is limited data on early neurodevelopmental symptoms that predict a positive genetic diagnosis. Recently, researchers at the University of California at Los Angeles (United States) wanted to determine which factors in this subset of children indicated the need for a genetic test. “With genetic testing, a diagnostic result can have beneficial effects on medical care, but we do not have recommendations on early neurodevelopmental signs that classify which children need genetic testing or not,” said Julian Martinez, a UCLA medical geneticist.
Motor delay and low muscle tone indicate the need for genetic testing
So, scientists conducted a study, the results of which were published in the journal Genetics in Medicine. As part of this work, they reviewed the medical records of 316 children examined in a neurodevelopmental clinic between 2014 and 2019. This establishment is a multidisciplinary center where a psychiatrist, a psychologist, a psychiatrist and a neurologist work together to improve the quality of life of patients. The latter were classified according to the results of genetic tests. Analyzes were also performed to identify factors that differentiated patients with and without a genetic diagnosis.
Results showed that, overall, young participants with a genetic diagnosis were more likely to be girls and to receive early intervention services for a history of motor delay, low muscle tone (also called hypotonia) and/or congenital heart disease. In the study group, 75% of children with motor delay had a genetic diagnosis, and in patients without motor delay, low muscle tone and walking age were other indicators of a diagnosis. genetic.
Identify “key clinical characteristics” to “shorten the diagnostic odyssey”
“By identifying key clinical characteristics, we can ensure that children most likely to benefit from genetic testing receive it quickly,” said Aaron Besterman, who led the research. According to the authors, early genetic diagnosis can help manage or anticipate “medical co-occurrence,” such as congenital heart disease, psychiatric illness, or information about a higher likelihood of having seizures. epilepsy.
“With the use of genetic evaluations and precision medicine, the goal is to shorten the diagnostic odyssey, that is, the long period of time required for a patient to receive a diagnosis, so that “We can take care of the patient and provide the personalized care that best suits the patient with a unique diagnosis and not necessarily treat them like anyone else,” the researchers concluded.
