Researchers have discovered that motor delays and low muscle tone are often indicators of an underlying genetic condition in children with neurodevelopmental disorders.
In a recent investigation, researchers from UCLA Health identified that both motor delays and low muscle tone frequently suggest an underlying genetic diagnosis in children suffering from neurodevelopmental disorders.
Due to the scarcity of information on early neurodevelopmental signs that could predict a genetic diagnosis, the authors of this study sought to explore which factors might indicate a need for genetic testing in this group of children. Dr. Julian Martinez, the senior co-author and medical geneticist at UCLA Health, stated, “While genetic testing can yield beneficial diagnostic results for medical care, we are still lacking established clinical guidelines to determine which early neurodevelopmental signs warrant testing.”
Dr. Martinez explained that understanding the early neurodevelopmental symptoms that suggest a genetic issue can be advantageous for both families and healthcare providers. Families can advocate for a referral to a geneticist, who can conduct tests that may lead to a genetic diagnosis. This can aid in monitoring for potential medical issues or initiate treatment for a specific genetic disorder if it exists.
The research, published in Genetics in Medicine, analyzed medical records from 316 patients who attended the UCLA Care And Research In NeuroGenetics (CARING) Clinic between 2014 and 2019. This multidisciplinary clinic brings together specialists in psychiatry, genetics, neurology, and psychology to provide care for neurodevelopmental disorder patients. Researchers sorted patients according to their genetic testing outcomes and recorded clinical factors that helped distinguish those with genetic diagnoses from those without.
The findings revealed that patients diagnosed with a genetic condition were generally more likely to be female and to have received early intervention services for issues related to motor delay, low muscle tone, and/or congenital heart disease. Among the participants, 75% of those experiencing motor delay had a genetic diagnosis, while for those without motor delay, low muscle tone and the age at which they began walking were significant indicators of a possible genetic condition.
“For many years, the genetics community has worked hard to identify which patients would gain the most from genetic testing,” Martinez noted. “Consequently, it’s valuable to recognize that motor skill delays signify a very high probability of a genetic diagnosis.”
“This research brings us closer to creating evidence-based guidelines for genetic testing in neurodevelopmental disorders,” remarked Dr. Aaron Besterman, another senior author of the study and a former postdoctoral researcher at UCLA Health, now a clinical professor at UCSD’s Department of Psychiatry. “By pinpointing critical clinical characteristics, we can ensure that children who are most likely to benefit from genetic testing receive it in a timely manner.”
Dr. Martinez added that an early genetic diagnosis can aid in managing or predicting medical issues that may arise, such as congenital heart disease, psychiatric conditions, or an increased risk of seizures. He noted that although it can be a contentious topic, some families prefer to understand their genetic information for family planning purposes.
“Utilizing genetic assessments and precision medicine aims to reduce the length of time it takes for patients to attain a diagnosis – often referred to as the diagnostic odyssey – allowing us to support the patient and deliver personalized care tailored specifically for them, rather than using a one-size-fits-all approach.”
