Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 75
- 试验地点
- 1
- 主要终点
- The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2)
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 3 Years 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Williams Syndrome
After clinical diagnosis and confirmation through fluorescence in situ hybridization (FISH) testing, a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region was identified.
Autism Spectrum disorder
It meets the clinical diagnostic criteria of the Second Edition of the Autism Diagnostic Observation Scale (ADOS-2).
healthy children
There is no history of neurodevelopmental disorders, mental illness or major neurological diseases
结局指标
主要结局
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2)
时间窗: 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)
时间窗: 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)
时间窗: 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)
时间窗: 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.
次要结局
- Diffusion Tensor Imaging (DTI) Axial Diffusivity (AD)(Baseline)
- Diffusion Tensor Imaging (DTI) Mean Diffusivity (MD)(Baseline)
- Diffusion Tensor Imaging (DTI) Radial Diffusivity (RD)(Baseline)
- Structural MRI (sMRI) Cortical Volume(Baseline)
- Structural MRI (sMRI) Cortical Thickness(Baseline)
- Structural MRI (sMRI) Subcortical Structure Volume(Baseline)