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Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.

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Title: Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.
Authors: Lob, Karen (AUTHOR), Sawka, Danielle M. (AUTHOR), Gaitanis, John N. (AUTHOR), Liu, Judy S. (AUTHOR), Nie, Duyu A. (AUTHOR)
Source: Journal of Autism & Developmental Disorders. Dec2025, Vol. 55 Issue 12, p4324-4336. 13p.
Subjects: Genetics of epilepsy, Genetics of autism, Age of onset, Data analysis, Research funding, Fisher exact test, Retrospective studies, Age distribution, Magnetic resonance imaging, Mann Whitney U Test, Chi-squared test, Descriptive statistics, Developmental disabilities, Odds ratio, Epilepsy, Medical records, Acquisition of data, Statistics, Asperger's syndrome, Data analysis software, Confidence intervals, Phenotypes, Genetic testing, Genotypes, Sequence analysis, Drug resistance, Comorbidity
Abstract: We compared the epilepsy phenotypes in children with genetically defined versus undefined autism spectrum disorder (ASD). A single-center retrospective study was conducted to investigate diagnostic yields of different genetic testing for children with ASD. Patients with at least one testing modality were included and classified as having genetically defined ASD or not based on updated genotype–phenotype correlation. Of the 523 patients included, 79 (15.1%) had results explaining their ASD diagnosis. WES (whole exome sequencing) outperformed CMA (chromosomal microarray) on diagnostic yield (23.0% versus 8.3%). Compared to those with non-diagnostic test(s), children with genetically defined ASD were associated with higher rates for microcephaly, hypotonia, dysmorphic features, and developmental delay/regression. The prevalence of epilepsy was significantly higher in children with genetically defined ASD than those without a genetic diagnosis (35.4% versus 16.4%, p < 0.001, power = 0.97). Furthermore, children with genetically defined ASD had a younger age of epilepsy onset (median 2.2 versus 5.0 years, p = 0.002, power = 0.90) and a higher rate of drug-resistant epilepsy although not reaching statistical significance (35.7% versus 21.9%, p = 0.20). Our study has provided further evidence to support WES as first-tier test for children with ASD and that an early genetic diagnosis has the potential to inform further surveillance and management for ASD comorbid conditions including epilepsy. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.
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– Name: Abstract
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  Data: We compared the epilepsy phenotypes in children with genetically defined versus undefined autism spectrum disorder (ASD). A single-center retrospective study was conducted to investigate diagnostic yields of different genetic testing for children with ASD. Patients with at least one testing modality were included and classified as having genetically defined ASD or not based on updated genotype–phenotype correlation. Of the 523 patients included, 79 (15.1%) had results explaining their ASD diagnosis. WES (whole exome sequencing) outperformed CMA (chromosomal microarray) on diagnostic yield (23.0% versus 8.3%). Compared to those with non-diagnostic test(s), children with genetically defined ASD were associated with higher rates for microcephaly, hypotonia, dysmorphic features, and developmental delay/regression. The prevalence of epilepsy was significantly higher in children with genetically defined ASD than those without a genetic diagnosis (35.4% versus 16.4%, p &lt; 0.001, power = 0.97). Furthermore, children with genetically defined ASD had a younger age of epilepsy onset (median 2.2 versus 5.0 years, p = 0.002, power = 0.90) and a higher rate of drug-resistant epilepsy although not reaching statistical significance (35.7% versus 21.9%, p = 0.20). Our study has provided further evidence to support WES as first-tier test for children with ASD and that an early genetic diagnosis has the potential to inform further surveillance and management for ASD comorbid conditions including epilepsy. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: &lt;i&gt;Copyright of Journal of Autism &amp; Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=189168304
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      – Type: doi
        Value: 10.1007/s10803-024-06512-1
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        Text: English
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        PageCount: 13
        StartPage: 4324
    Subjects:
      – SubjectFull: Genetics of epilepsy
        Type: general
      – SubjectFull: Genetics of autism
        Type: general
      – SubjectFull: Age of onset
        Type: general
      – SubjectFull: Data analysis
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      – SubjectFull: Research funding
        Type: general
      – SubjectFull: Fisher exact test
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      – SubjectFull: Retrospective studies
        Type: general
      – SubjectFull: Age distribution
        Type: general
      – SubjectFull: Magnetic resonance imaging
        Type: general
      – SubjectFull: Mann Whitney U Test
        Type: general
      – SubjectFull: Chi-squared test
        Type: general
      – SubjectFull: Descriptive statistics
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      – SubjectFull: Developmental disabilities
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      – SubjectFull: Odds ratio
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      – SubjectFull: Genetic testing
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      – SubjectFull: Drug resistance
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      – SubjectFull: Comorbidity
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    Titles:
      – TitleFull: Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.
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              Text: Dec2025
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