Autism spectrum disorder and Coffin–Siris syndrome—Case report

• DOI: 10.3389/fpsyt.2023.1199710
• Publication Date: 2023-08-24T14:29:06Z
• Authors: Luka Milutinovic; Roberto Grujicic; Vanja Mandic Maravic; Ivana Joksic; Natasa Ljubomirovic; Milica Pejovic Mi...
• Keywords: Hypertrichosis; Etiology

Introduction Autism spectrum disorders (ASDs) are a group of developmental characterized by deficits in social communicative skills and the occurrence repetitive and/or stereotyped behaviors. Coffin–Siris syndrome (CSS) is classically aplasia or hypoplasia distal phalanx nail fifth additional digits, cognitive delay varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, sparse scalp hair. In this study, we present detailed description autistic traits boy diagnosed with CSS further discuss their genetic backgrounds. Case An 8-year-old ASD, congenital anomalies, neurological problems had been after testing. Genetic testing revealed heterozygous de novo pathogenic variant (class 5) c.1638_1647del ARID1B gene that causative but also other intellectual disability (ID)-related disorders, including autism. Tests preceded diagnoses, as well anomalies issues, were described an attempt to better his phenotype. Conclusion Both autism -related on spectrum. This report points out importance necessity research regarding backgrounds these understand complex etiology.