Developmental medicine and child neurology · 2026
Genetic testing in paediatric neurological disorders.
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Uraba Wafa Bani, Lee Byoung Chan, Mohammad Shekeeb S, Fisk Katrina, Buckley Michael, Dale Russell C, Roscioli Tony, Paediatric Neurogenomic Working Group, Gill Deepak, Kothur Kavitha
Аннотация
AIM: To evaluate genetic testing practices (exome sequencing, commercial panel, and in-house genetic panels) from a large tertiary hospital for determining gaps, and to identify clinical associations with pathogenic genetic variants.
METHOD: This retrospective cohort study included patients (age < 18 years) from a neurology department for whom genetic testing was requested for neurological disorders, epilepsy, and movement disorders (2020-2023). Logistic regression was used to identify clinical features predictive of positive results. The clinical benefits of genetic testing were studied.
RESULTS: Three hundred and ninety patients underwent genetic testing by exome sequencing (n = 125), commercial panel (n = 143), in-house epilepsy (n = 78), and movement disorder (n = 44) gene panels. Exome sequencing had the highest pathogenic yield (n = 49, 39%), followed by epilepsy (n = 22, 28%), movement disorder (n = 11, 25%), and commercial (n = 22, 15%) panels. Variants of uncertain significance were highest in commercial (64%) and epilepsy (34%) panels. Among the exome sequencing cohort, the predominant clinical features were developmental delay (89%), intellectual disability (51%), and epilepsy (35%). Pathogenic variants in the exome sequencing cohort were more likely in patients with severe developmental delay (33%, p = 0.03) and hypotonia (39%, p = 0.05). There was significant utility of genetic testing in informing clinical decision making (49% of pathogenic variants in exome sequencing cohort).
INTEPRETATION: Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.
METHOD: This retrospective cohort study included patients (age < 18 years) from a neurology department for whom genetic testing was requested for neurological disorders, epilepsy, and movement disorders (2020-2023). Logistic regression was used to identify clinical features predictive of positive results. The clinical benefits of genetic testing were studied.
RESULTS: Three hundred and ninety patients underwent genetic testing by exome sequencing (n = 125), commercial panel (n = 143), in-house epilepsy (n = 78), and movement disorder (n = 44) gene panels. Exome sequencing had the highest pathogenic yield (n = 49, 39%), followed by epilepsy (n = 22, 28%), movement disorder (n = 11, 25%), and commercial (n = 22, 15%) panels. Variants of uncertain significance were highest in commercial (64%) and epilepsy (34%) panels. Among the exome sequencing cohort, the predominant clinical features were developmental delay (89%), intellectual disability (51%), and epilepsy (35%). Pathogenic variants in the exome sequencing cohort were more likely in patients with severe developmental delay (33%, p = 0.03) and hypotonia (39%, p = 0.05). There was significant utility of genetic testing in informing clinical decision making (49% of pathogenic variants in exome sequencing cohort).
INTEPRETATION: Exome sequencing outperforms gene panels in confirming genetic diagnoses in paediatric neurological disorders, and highlights the need for building local diagnostic genetic-testing resources.