Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome

NCT06737718 | Recruiting

• 2 other identifiers: APHP2412672024-A02021-46
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments. While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials. Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.

Conditions

Angelman Syndrome

Keywords

Angelman syndrome; Eye tracking; Social perception

Outcome Measures

Primary Outcomes (1)

• Abnormalities of social perception in children with Angelman syndrome

  Social perception abnormalities in children with Angelman syndrome will be studied using eye tracking. Social perception will be measured during the eye-tracking test by the number of fixations in social and non-social regions.

  Time 0

Secondary Outcomes (4)

• Description of brain abnormalities in children with Angelman syndrome

  Time 0

• Correlation measures between eye-tracking data and multimodal brain imaging data

  Time 0

• Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome

  Time 0

• Description of potential link between eye-tracking and brain imaging data of children with Angelman syndrome to the overall eye-tracking results of children with autism spectrum disorders

  Time 0

Study Arms (2)

Patients

Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman.

Other: Eye tracking; Other: Data collection from patients' medical files; Other: questionnaires

Controls

Healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.

Other: Eye tracking

Interventions

Eye tracking OTHER

The eye-tracking session will take place in the Pediatric Radiology department of Necker Hospital. The child will be seated in front of a computer screen. Films and images with social and/or non-social content will be shown to the children. The session will be unique, will last approximately 15 minutes and will not involve any constraints for the child. Eye tracking allows to measure where and how a person looks. An infrared light is emitted towards the subject's eye. It is reflected there and a camera records the reflections generated, allowing a real-time calculation of the position of the gaze. The technique is harmless and non-invasive.

Controls; Patients

Data collection from patients' medical files OTHER

Data collection from patients' medical files: * Brain imaging data if this examination was carried out as part of the patient's care, * Angelman syndrome genotypes.

Patients

questionnaires OTHER

Completion of two questionnaires by parents, the DIVA-5 ID to assess the level of attention difficulties and the M-CHAT questionnaire to measure the level of social difficulties in children. The purpose of these two scales is to better interpret the eye-tracking results.

Patients

Eligibility Criteria

• Age: 3 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children with Angelman syndrome followed at Necker-Enfants Malades hospital, Assistance Publique-Hôpitaux de Paris in the Centre Expert Angelman and healthy volunteer children from the patients' entourage, without known neurological, genetic or psychiatric pathology.

You may qualify if:

• children with Angelman syndrome diagnosed by genetic assessment or EEG.
• healthy volunteer control children with no known genetic or psychiatric neurological pathology.
• Aged between 3 - 17 years.
• Male or female.
• Holders of parental authority and minors informed and not opposed to participation in the research.

You may not qualify if:

• Refusal to participate in the study.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Angelman Syndrome

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Nathalie MD, PhD Boddaert

  Assistance Publique - Hôpitaux de Paris

  STUDY DIRECTOR

• Monica MD Zilbovicius

  Assistance Publique - Hôpitaux de Paris

  STUDY DIRECTOR

Central Study Contacts

Nathalie MD, PhD Boddaert

CONTACT

0033171396530; nathalie.boddaert@aphp.fr

Victor Bruyere

CONTACT

0033134292324; victor.bruyere@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 12, 2024
• First Posted: December 17, 2024
• Study Start: February 25, 2025
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: March 16, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)