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.
40 children with Angelman syndrome diagnosed by genetic assessment or EEG.
20 healthy volunteer control children with no known genetic or psychiatric neurological pathology.
Aged between 3 - 17 years.
Male or female.
Refusal to participate in the study.
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.
Case-control
Prospective
Eye tracking
Other interventionThe 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.
Data collection from patients' medical files
Other interventionData collection from patients' medical files: * Brain imaging data if this examination was carried out as part of the patient's care, * Angelman syndrome genotypes.
questionnaires
Other interventionCompletion 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.
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.
Description of brain abnormalities in children with Angelman syndrome
Description of measurements from anatomical and functional brain imaging data (radiological analysis, grey matter analysis, white matter analysis, resting cerebral blood flow analysis) available in children with Angelman syndrome participating in the study and who previously have undergone a MRI as part of their routine care.
Correlation measures between eye-tracking data and multimodal brain imaging data
Description of correlations of eye tracking data and multimodal brain imaging data (anatomical and functional) from children with Angelman syndrome participating in the study for whom brain imaging data has already been acquired as part of the child's routine care.
Description of potential correlations between eye-tracking data and different genotypes of Angelman syndrome
Investigate potential correlations measurements between eye-tracking data and different genotypes of Angelman syndrome: Deletion, Mutation, IPD, Uniparental disomy, others;
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
Comparison of eye-tracking and brain imaging data obtained in children with Angelman syndrome and the same data from children with autism spectrum disorders, available in the laboratory database.
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
