New study identifies motor delay and hypotonia as key predictors of genetic diagnoses, offering a practical tool to guide clinicians in neurodevelopmental care. Study: Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic . Image Credit: Gorodenkoff/Shutterstock.
com In a recent study published in Genetics in Medicine , a group of researchers identified clinical factors associated with genetic diagnoses in Neurodevelopmental disorder (NDD) (affects brain development, causing cognitive or motor delays) patients and developed a decision tool to guide genetic testing decisions. Background NDDs, such as global developmental delay, autism spectrum disorder (ASD) (impacts social interaction and communication with repetitive behaviors), and intellectual disability, have significant genetic heritability. Advances in genetic testing, including chromosomal microarray (CMA) and exome sequencing (ES), have improved diagnostic rates.
With CMA, genetic variants are identified in 10% to 20% of cases, and with ES, over 40%. Studies show that individuals with genetic diagnoses often have more medical comorbidities. Further research is required to validate decision tools and identify additional phenotypic factors to improve genetic diagnosis accuracy in different clinical populations.
About the study In the present study, 110 patients, along with their legal guardians, provided informed consent for prospective clinical data collection. .
