Studying Autism Traits and Sensory Behavior in Children Aged 3 to 16 With Prader-Willi Syndrome and Effects of Early Oxytocin Treatment

What this Trial Is About

Prader-Willi Syndrome PWS is a rare genetic neurodevelopmental disorder caused by damage in the 15q11-q13 region leading to hypothalamic dysfunction. People with PWS often show challenges in social interaction, intellectual difficulties, serious eating disorders, mood problems, and sensory features linked to autism. The CASSPER study investigates the unique autistic and sensory profiles in children with PWS and examines how early treatment with oxytocin might affect these symptoms, addressing the need for early and personalized care in this population. Children aged 3 to 16 years with genetically confirmed PWS participate in this observational study. They will undergo psychological and sensory tests, including questionnaires and sensory evaluations. The study focuses on assessing autistic symptoms, sensory profiles, cognitive-behavioral disorders, and the impact of early oxytocin treatment in younger children. These assessments take place during planned hospital visits or multidisciplinary consultations at the study centers. Participants will be evaluated over a short period, from day 1 to day 3, with researchers measuring autistic symptom prevalence, sensory characteristics, and their relationship with behavioral disorders and family quality of life. The study also compares these factors in children treated early with oxytocin versus those untreated. This approach aims to improve understanding of autistic traits in genetic neurodevelopmental disorders and support better care strategies for children with PWS.

Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome