Phonological Constraints on Language Development in Individuals With Williams Syndrome (SOUNDS)

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.

Study Overview

• Status: Recruiting
• Conditions: Williams Syndrome; Language; Phonological Short-Term Memory; EEG-NIRS
• Intervention / Treatment: Other: EEG-NIRS protocol; Other: Questionnaire

• Study Type: Interventional
• Enrollment (Estimated): 130
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Fabrice Wallois, Pr; Phone Number: 33+3 22 08 77 75; Email: fabrice.wallois@u-picardie.fr

Study Locations

• France
  • Amiens, France, 80054
    • Recruiting
    • CHU Amiens
    • Contact: Fabrice WALLOIS, MD, PhD; Phone Number: 03 22 08 77 77; Email: wallois.fabrice@chu-amiens.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients with Williams syndrome	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
Active Comparator: Patients with Down syndrome	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
Sham Comparator: Healthy children	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
Active Comparator: Healthy adults	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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
questionnaire score of patients with WS caracterisation	questionnaire score for cognitive profile of patients with WS caracterisation	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Impact of hyperacusis on questionnaire score	Impact of hyperacusis on questionnaire score	2 years

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire, Amiens

Study record dates

Study Major Dates

• Study Start (Actual): July 5, 2024
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2026

Study Registration Dates

• First Submitted: November 17, 2025
• First Submitted That Met QC Criteria: December 2, 2025
• First Posted (Actual): December 16, 2025

Study Record Updates

• Last Update Posted (Actual): December 16, 2025
• Last Update Submitted That Met QC Criteria: December 2, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: Language; EEG-NIRS; Williams syndrome; Phonological Short-Term Memory
• Additional Relevant MeSH Terms: Aortic Valve Disease; Neurologic Manifestations; Nervous System Diseases; Cardiovascular Diseases; Heart Diseases; Genetic Diseases, Inborn; Neurobehavioral Manifestations; Heart Valve Diseases; Congenital Abnormalities; Intellectual Disability; Aortic Valve Stenosis; Chromosome Disorders; Aortic Stenosis, Supravalvular; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior; Communication; Williams Syndrome; Language; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: PI2022_843_0021

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No