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Not yet recruiting NCT07509879

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

— Observational Williams Syndrome Autism Disorder

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Williams Syndrome, Autism Disorder. Basic parameters: 3 years — 12 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
China
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Primary outcome measures

  • The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2) [Time frame: Baseline]
  • The score of Developmental Quotient (DQ) in Gesell Developmental Schedules (GDS) [Time frame: Baseline]
  • Fractional Anisotropy (FA) [Time frame: baseline]
  • The score pf Social Responsiveness Scale, Second Edition (SRS-2) [Time frame: baseline]
Secondary outcome measures (6)
  • Diffusion Tensor Imaging (DTI) Axial Diffusivity (AD) [Time frame: Baseline]
  • Diffusion Tensor Imaging (DTI) Mean Diffusivity (MD) [Time frame: Baseline]
  • Diffusion Tensor Imaging (DTI) Radial Diffusivity (RD) [Time frame: Baseline]
  • Structural MRI (sMRI) Cortical Volume [Time frame: Baseline]
  • Structural MRI (sMRI) Cortical Thickness [Time frame: Baseline]
  • Structural MRI (sMRI) Subcortical Structure Volume [Time frame: Baseline]

Eligibility criteria

Participants for Williams Syndrome Study

Inclusion criteria must all be met:

  • Age 3-12 years old.
  • 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.
  • 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:

  • Age 3-12 years old.
  • Clinically diagnosed according to the second edition of the Autism Diagnostic Observation Schedule (ADOS-2) criteria.
  • 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:

  • Age 3-12 years old, with gender as close as possible to the participants in the above two groups.
  • No history of neurodevelopmental disorders, mental illnesses or major neurological diseases.
  • 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:

  • Specific medical conditions:
  • For the Williams Syndrome group: Known or suspected presence of other pathogenic gene mutations/syndromes other than the 7q11.23 microdeletion.
  • For the Autism Spectrum Disorder group: Co-occurring other clearly diagnosed neurodevelopmental disorders (such as Rett syndrome, fragile X syndrome, etc.).
  • 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).
  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

China · 1 center
  • Qilu Hospital of Shandong University — Jinan

Identifiers

NCT: NCT07509879 · QL000007

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗