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.
Eligibility
Sex
ALL
Min age
3 Years
Max age
12 Years
Healthy volunteers
Accepted
Participants for Williams Syndrome Study
Inclusion criteria must all be met:
1. Age 3-12 years old.
2. Clinically diagnosed and confirmed by fluorescence in situ hybridization (FISH) test, with a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region.
3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
Participants for Autism Spectrum Disorder Study
Inclusion criteria must all be met:
1. Age 3-12 years old.
2. Clinically diagnosed according to the second edition of the Autism Diagnostic Observation Schedule (ADOS-2) criteria.
3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
Participants for Healthy Children Study
Inclusion criteria must all be met:
1. Age 3-12 years old, with gender as close as possible to the participants in the above two groups.
2. No history of neurodevelopmental disorders, mental illnesses or major neurological diseases.
3. Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
Common Exclusion Criteria for All Study Participants
Any of the following conditions must be met to be excluded from the study:
1. Specific medical conditions:
2. For the Williams Syndrome group: Known or suspected presence of other pathogenic gene mutations/syndromes other than the 7q11.23 microdeletion.
3. For the Autism Spectrum Disorder group: Co-occurring other clearly diagnosed neurodevelopmental disorders (such as Rett syndrome, fragile X syndrome, etc.).
4. Brain structural abnormalities: According to recent cranial MRI and interpretation by neuro-radiology experts, significant brain structural lesions are found (for the patient group, referring to lesions unrelated to Williams Syndrome or autism; for the healthy group, referring to any clinically significant abnormalities).
5. Major systemic diseases: Presence of diseases with clinical significance as judged by the researchers, which may: affect the interpretation of study results, or endanger the safety of the study participants.
Primary outcome measure(s)
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2) — Baseline Motor development will be assessed using the Peabody Developmental Motor Scales, Second Edition (PDMS-2). The endpoint is the Motor Quotient (range: 50-150). Higher scores indicate better motor functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
The score of Developmental Quotient (DQ) in Gesell Developmental Schedules (GDS) — Baseline Neurodevelopmental level will be assessed using the Gesell Developmental Schedules (Gesell Developmental Scale). The endpoint is the Developmental Quotient (DQ) (range: 0-130). Higher scores indicate better developmental functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
Fractional Anisotropy (FA) — baseline White matter microstructural integrity will be quantified using DTI-derived fractional anisotropy (FA). FA values range from 0 to 1, with higher values indicating greater directional diffusion and typically better white matter integrity (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls. Unit of Measure : mm²/s (typically reported as ×10-³ mm²/s)
The score pf Social Responsiveness Scale, Second Edition (SRS-2) — baseline Social communication will be assessed using the Social Responsiveness Scale, Second Edition (SRS-2). The primary endpoint is the SCI T-score (range: 0-100). Higher scores indicate worse social communication impairment (i.e., poorer outcome). Group differences will be compared across WS, ASD, and typically developing controls.
Trial sites (1)
Facility
City
Region
Status
Qilu Hospital of Shandong University
Jinan
Shandong
More Qilu Hospital of Shandong University trials in China
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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