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In children with neurodevelopmental disorders, motor delay and low muscle tone are common signs that may point to an underlying genetic diagnosis, according to new research by scientists from the University of California, Los Angeles (UCLA) Health Sciences. The study highlights the importance of early neurodevelopmental signs in guiding the decision for genetic testing, which can lead to timely diagnosis and more targeted care.
The research team, led by Dr. Julian Martinez, a medical geneticist at UCLA Health, sought to identify which clinical factors in children with neurodevelopmental disorders would indicate the need for genetic testing. “With genetic testing, a diagnostic result can have benefits on medical care, but we don’t have established clinical guidelines on the early neurodevelopmental signs that classify who gets genetic testing or not,” said Dr. Martinez. He emphasized that understanding these early symptoms could help both healthcare providers and families make more informed decisions about seeking genetic testing.
Study Insights: Motor Delay and Muscle Tone as Key Indicators
The study, published in Genetics in Medicine, reviewed the medical records of 316 patients treated at the UCLA Care and Research in Neurogenetics (CARING) Clinic from 2014 to 2019. The researchers analyzed these patients’ clinical characteristics, including their genetic testing results, to determine which factors were most strongly associated with a positive genetic diagnosis.
The results showed that children who had motor delay, low muscle tone, or congenital heart disease were more likely to receive a genetic diagnosis. Remarkably, about 75% of patients with motor delay had a confirmed genetic diagnosis, while other indicators—such as low muscle tone and the age at which a child began walking—were also found to be significant factors for genetic testing.
“It is helpful to know that a delay in motor skills yields a very high likelihood of a genetic diagnosis,” the researchers noted. They emphasized that this finding could provide a clearer direction for clinicians when deciding whether to refer a child for genetic evaluation.
Benefits of Early Genetic Diagnosis
An early genetic diagnosis offers a range of benefits, according to the study authors. For families, it can provide clarity about the child’s condition and enable them to advocate for genetic testing. For healthcare providers, a confirmed genetic diagnosis can help guide medical care, particularly by monitoring for associated conditions such as congenital heart disease, psychiatric disorders, or an increased risk of seizures.
The findings underscore the importance of identifying early neurodevelopmental signs that warrant genetic testing, as this could lead to more personalized treatment and better long-term outcomes for children with neurodevelopmental disorders.
Implications for Clinical Practice
The study advocates for the development of clinical guidelines that incorporate early neurodevelopmental signs, such as motor delay and low muscle tone, into the decision-making process for genetic testing. By doing so, clinicians can provide more timely diagnoses and improve the management of associated medical concerns in children with genetic conditions.
This research from UCLA provides critical insights into the role of early intervention in pediatric care and highlights the need for further studies to establish comprehensive clinical guidelines for genetic testing in neurodevelopmental disorders.
