Genetic Testing Reveals Key Variants in Nonsyndromic Autism Spectrum Disorder in Southern Brazil
A study of 215 individuals with nonsyndromic autism in southern Brazil found a 2.8% diagnostic yield for pathogenic genetic variants using chromosomal microarray analysis, highlighting the role of clinical selection in genetic testing outcomes.
Rare SH2B1 Gene Variants Linked to Neurodevelopmental Disorders and Metabolic Features
A study links rare SH2B1 gene variants to neurodevelopmental disorders with metabolic symptoms, expanding understanding of their clinical impact.
New SMARCA4 Mutation Linked to Coffin-Siris Syndrome Type 4 with Autism but Without Visual Impairment
A novel SMARCA4 mutation causing Coffin-Siris syndrome type 4 with autism but without typical visual or finger abnormalities was identified in a young patient, expanding the known clinical spectrum.
2024 Advances in Autism Research Highlight Genetic Testing and Personalized Therapies
The 2024 Autism Science Review highlights advances in genetic testing, personalized therapies, outcome measurement, and understanding autism’s diverse presentations, offering new insights for families and researchers.