P232: Phenotypic severity in people with autism with dual genetic diagnoses
Abstract
SPARK (Simons Foundation Powering Autism Research for Knowledge) is a US based research cohort with genomic data on 57,553 individuals with autism. Eight point six percent have at least one likely pathogenic/pathogenic (LP/P) result. SPARK has also identified 141 individuals who have two LP/P variants. We previously showed that these individuals were more likely to have cognitive impairment and congenital anomalies. The objective of this study was to identify early and easily identifiable clinical features associated with having a second LP/P variant compared to having a single LP/P variant.
Fields of Study & Subjects
Autism Spectrum Disorder Research
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103726–103726
- Publication date
- 1 January 2026
- Language
- EN