In a recent study conducted by UCLA Health researchers, it was discovered that motor delay and low muscle tone were common indicators of an underlying genetic diagnosis in children with neurodevelopmental disorders. The study aimed to identify early neurodevelopmental symptoms that could potentially prompt the need for genetic testing in these children. Dr. Julian Martinez, a medical geneticist at UCLA Health and senior co-author of the study, highlighted that a positive genetic diagnosis could greatly benefit both the patient’s family and doctor by allowing for better monitoring of potential medical concerns and facilitating the initiation of targeted treatments for specific genetic conditions.
Published in Genetics in Medicine, the study analyzed medical records of 316 patients who had visited the UCLA Care And Research In NeuroGenetics (CARING) Clinic between 2014 and 2019. This clinic provides comprehensive care for patients with neurodevelopmental disorders through collaboration among various specialists including psychiatrists, geneticists, neurologists, and psychologists. Patients were grouped based on their genetic testing results, and the researchers examined clinical factors that distinguished those with and without a genetic diagnosis. Findings revealed that patients with a genetic diagnosis were more likely to be female and had a history of motor delay, low muscle tone, and/or congenital heart disease, emphasizing the importance of these factors in predicting a positive genetic diagnosis.
The study highlighted that 75% of patients exhibiting motor delay had a genetic diagnosis, while in those without motor delay, low muscle tone and age of walking were additional indicators for a genetic diagnosis. Dr. Martinez noted that the genetics field has long been striving to determine which patients would benefit most from genetic testing, making the discovery of motor delay as a strong predictor of genetic diagnosis especially valuable. Dr. Aaron Besterman, the study’s senior author and former UCLA Health Postdoctoral Researcher, emphasized that identifying key clinical features could pave the way for evidence-based guidelines on genetic testing in neurodevelopmental disorders, ensuring that children most likely to benefit receive prompt testing.
An early genetic diagnosis can be instrumental in managing or anticipating medical comorbidities such as congenital heart disease, psychiatric illnesses, or an increased risk of seizures. Dr. Martinez also mentioned that while some families may find it controversial, having information about their genetic makeup can aid in family planning decisions. The use of genetic evaluations and precision medicine aims to streamline the diagnostic process, reducing the time it takes for patients to receive a diagnosis and enabling personalized care tailored to their unique genetic condition. By advancing the understanding of early neurodevelopmental symptoms that warrant genetic testing, this study contributes towards the development of guidelines for optimizing genetic evaluation in children with neurodevelopmental disorders.
