Hüsna KAAN, Murat COSKUN
Nöropsikiyatri Arşivi - 2026;63(1):299-301
This report aims to present the diagnostic process and clinical challenges of a child diagnosed with both FHS and ASD. A 9-year-old boy presented with social communication difficulties, restricted interests, and sensory hypersensitivity. Psychometric testing demonstrated average intellectual functioning (IQ: 94), while behavioral assessments revealed significant hyperactivity and behavioral dysregulation, in addition to severe autism as measured by the Childhood Autism Rating Scale (CARS). Based on DSM-5 criteria, he was diagnosed with ASD. Persistently elevated amylase and lipase levels prompted genetic evaluation, which confirmed FHS with an SRCAP mutation.
