Abstract
Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample
Highlights
We examined factors associated with receiving genetic testing
Participants who reported any genetic testing showed an earlier age at autism spectrum disorder (ASD) diagnosis, greater ASD severity, and higher frequency of intellectual disability and epilepsy
D Reported data reflect a denominator of 57 for chromosomal microarray (CMA) and of 783 for no CMA. e A severity score was not available for 64 participants, resulting in n = 808. f ASD diagnosing clinician: type of clinician who diagnosed the participant with ASD. g Reported data reflect a denominator of 31 for CMA and of 400 for no CMA
Summary
Autism spectrum disorder (ASD) is among the most strongly genetic neuropsychiatric conditions, with an increased frequency of rare, deleterious copy number variants and single-nucleotide variants. We analyzed self-report data and medical records, when available, from 1280 participants in the RI-CART study, recruited between April 1, 2013, and April 30, 2019, with ASD diagnosis confirmed by assessment using the Autism. Results | Of these 1280 participants with confirmed ASD diagnosis by ADOS-2, ages ranged from 1.75 years to 68.48 years, and 16.5% (n = 211) reported having received some genetic testing, as follows: Fragile X in 13.2% (n = 169), karyotype in 7.2% (n = 92), and CMA in 4.5% (n = 57). Participants who reported any genetic testing showed an earlier age at ASD diagnosis (mean age, 4.2 years; range, 1.3327.1 vs 6.1 years; range, 1.2-51.0; F1,597 = 13.258; P < .001), greater ASD severity (mean [SD] ADOS-2, 7.33 [1.8] vs 6.99 [1.8]; F1,1169 = 5.583; P = .02), and higher frequency of intellectual disability (odds ratio, 3.327; 95% CI, 2.382-4.649; P < .001) and epilepsy (odds ratio, 3.093; 95% CI, 1.748-5.474; P < .001)
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