NCT07509879

Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 75 (estimated)
• Sponsor: Qilu Hospital of Shandong University · Academic / Other
• Sex: All
• Age: 3 Years – 12 Years
• Healthy volunteers: Accepted

Summary

Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition, pronounced social extraversion, and relatively reserved language-expression characteristics. Although individuals with WS often demonstrate strong social interest and prosocial behaviors, significant deficiencies in abstract thinking, executive function, and visuospatial ability are frequently observed. At present, treatment for WS mainly focuses on behavioral intervention and educational rehabilitation, and clear molecular or pharmacological treatment methods remain limited. Due to the "opposite but related" social-cognitive profile observed in comparison with autism spectrum disorder, in-depth exploration of neural and molecular mechanisms underlying these differences has substantial scientific significance for understanding the biological basis of social-cognitive impairment.

Conditions

• Williams Syndrome
• Autism Disorder

Timeline

• Start date: 2026-04-01
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2026-04-03
• Last updated: 2026-04-03

Locations

1 site across 1 country: China