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Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic. | LitMetric

Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.

Genet Med

University of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, CA; Rady Children's Hospital of San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA. Electronic address:

Published: October 2024

AI Article Synopsis

  • The study identified specific characteristics linked to genetic diagnoses in patients with neurodevelopmental disorders and created a decision tree to help clinicians predict which patients might benefit from genetic testing.
  • Researchers analyzed the records of 316 patients and found that those with genetic diagnoses were typically female and more likely to show signs like motor delay and hypotonia.
  • The conclusion emphasizes that motor delay and hypotonia are key indicators for genetic conditions, and future work could refine decision trees to improve screening processes for genetic testing in this patient group.

Article Abstract

Purpose: This study aimed to identify phenotypic factors associated with genetic diagnoses in patients with neurodevelopmental disorders and generate a decision tree to assist clinicians in identifying patients most likely to receive a positive result on genetic testing.

Methods: We retrospectively reviewed the charts of 316 patients evaluated in a neurodevelopmental clinic between 2014 and 2019. Patients were categorized based on genetic test results. Analyses were performed to identify variables that discriminate between patients with and without a genetic diagnosis.

Results: Patients with a genetic diagnosis were more likely to be female and have a history of motor delay, hypotonia, congenital heart disease, and early intervention. Classification and regression tree analysis revealed that 75% of patients with motor delay had a genetic diagnosis. In patients without motor delay, hypotonia, age of walking, and age at initial evaluation were important indicators of a genetic diagnosis.

Conclusion: Our findings suggest that motor delay and hypotonia are associated with genetic diagnoses in children with neurodevelopmental disorders. The decision tree highlights patient subsets at greater risk and suggests possible phenotypic screens. Future studies could develop validated decision trees based on phenotypic data to assist clinicians in stratifying patients for genetic testing.

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Source
http://dx.doi.org/10.1016/j.gim.2024.101252DOI Listing

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