ArticleNeurology international2026
Genetic Testing Abnormalities in Children with Autism Spectrum Disorder: Prevalence, Patterns, and Clinical Associations.
Article in Neurology international, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundGenetic testing in autism spectrum disorder (ASD) can reveal a wide range of chromosomal and sequence-level abnormalities, yet large real-world neurology cohorts rarely report the full spectrum of findings alongside clinical correlates and patterns of testing. We characterized genetic findings in an 1884-patient ASD cohort and examined factors associated with both abnormal findings and the use of genetic testing.
methodsThis retrospective cross-sectional study included 1884 patients. Genetic testing was performed in 1011 patients; the primary outcome was an abnormal versus normal genetic result among those tested. All 371 abnormal findings were catalogued in a de-identified supplement. The primary multivariable model included age, sex, seizure history, and EEG abnormality (N = 901); an MRI-inclusive sensitivity model used 422 complete cases, and a separate full-cohort model evaluated factors associated with genetic testing.
resultsAbnormal genetic findings were documented in 371/1011 tested patients (36.7%, 95% CI 33.7-39.8%). In the primary model, female sex (aOR 1.483, 95% CI 1.089-2.018;
conclusionsMore than one-third of tested patients had an abnormal genetic finding, spanning a broad range of copy-number, sequence, homozygosity, Fragile X-related, chromosomal, and syndromic findings. Seizure history and female sex were the principal adjusted correlates of abnormal findings. Genetic testing clustered with EEG and MRI use, reflecting observed patterns of neurological work-up within this cohort rather than temporal or causal relationships.
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