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Williams syndrome (WS) is a neurodevelopmental disease characterized by mild to moderate intellectual disability and an extremely heterogeneous cognitive profile. Research has outlined two main features of WS: an atypical social behavior associated with surprising language abilities, and a hyperacusis. The purpose of this project is to investigate the relationships between both these abilities, and particularly the role of the hyperacusis on language abilities. The hyperacusis would be crucial in developing language skills: the apparent strength in the verbal domain could rely on Phonological Short Term Memory (PSTM) more in individuals with WS than in typically developing individuals. In addition, the investigators will compare individuals with WS to individuals with Down syndrome (DS): DS is often associated to strong limitations in the PSTM with poor language abilities. To this end, the investigators will use a highly innovative approach including physiological assessments (EEG-NIRS protocol) and questionnaires. The performance of people with WS will be compared to those of participants with DS and TD participants of same DA and cognitive assessments.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Williams syndrome | Experimental |
| |
| Patients with Down syndrome | Active Comparator |
| |
| Healthy children | Sham Comparator |
| |
| Healthy adults | Active Comparator |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| EEG-NIRS protocol | Other | Each participant will be tested individually in a quiet room at the GRAMFC (Groupe de Recherches sur l'Analyse Multimodale de la Fonction Cérébrale, INSERM-UMR1105, Université Picardie Jules Verne and CHU Amiens-Picardie). Duration of subject's participation in the study is 120 minutes |
| Measure | Description | Time Frame |
|---|---|---|
| questionnaire score of patients with WS caracterisation | questionnaire score for cognitive profile of patients with WS caracterisation | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Impact of hyperacusis on questionnaire score | Impact of hyperacusis on questionnaire score | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fabrice Wallois, Pr | Contact | 33+3 22 08 77 75 | fabrice.wallois@u-picardie.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Amiens | Recruiting | Amiens | 80054 | France |
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| ID | Term |
|---|---|
| D018980 | Williams Syndrome |
| D007802 | Language |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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|
| Questionnaire | Other | Each participant will be tested individually in a quiet room at the GRAMFC (Groupe de Recherches sur l'Analyse Multimodale de la Fonction Cérébrale, INSERM-UMR1105, Université Picardie Jules Verne and CHU Amiens-Picardie). Duration of subject's participation in the study is 120 minutes |
|
| D021921 | Aortic Stenosis, Supravalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003142 | Communication |
| D001519 | Behavior |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |