Phonological Constraints on Language Development in Individuals With Williams Syndrome
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
- The protocol lists: EEG-NIRS protocol, Questionnaire.
- Who it may be relevant to
- Registry conditions: Williams Syndrome, Language, Phonological Short-Term Memory, EEG-NIRS. Basic parameters: from 6 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
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Other EEG-NIRS protocol
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 - Other Questionnaire
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
Primary outcome measures
- questionnaire score of patients with WS caracterisation [Time frame: 2 years]
Secondary outcome measures (1)
- Impact of hyperacusis on questionnaire score [Time frame: 2 years]
Eligibility criteria
Inclusion criteria
- For SW and SD: genetic diagnosis and aged between 6- and 17 years old.
- For typical participants: any child, adolescent or young adult of the same developmental or chronological age (between 6 and 17 years of age)
- adult group (between 20 and 60 years).
Exclusion criteria
- Autistic Associated Disorders,
- West syndrome
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Parallel assignment
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
France · 1 center
- CHU Amiens — Amiens
Identifiers
NCT: NCT07285720 · PI2022_843_0021