Autism Spectrum Disorder
Conditions
Keywords
Autism spectrum disorders, Multimodal brain imaging, Eye-tracking, Social perception, Genetics, Developmental trajectory
Brief summary
The main goal of this study is to investigate anatomo-functional brain abnormalities associated with autism spectrum disorders using a multimodal brain imaging approach, as well as its links to social cognition difficulties measured using eye-tracking
Detailed description
Autism Spectrum Disorders (ASD) are neurodevelopmental disorders whose first manifestations appear early in childhood. Even if ASDs present a wide heterogeneity in clinical manifestations, abnormalities in social behavior, characterized in particular by a lack of preference for social information, remain the core of difficulties characteristic of autism. Brain imaging investigations have revealed anatomo-functional abnormalities in autism, particularly in social brain regions. In parallel, eye-tracking studies have provided objective measures of social perception abnormalities in autism. These results illustrate the relevance of these research strategies in the context of ASD. Acquiring objective data on social behavior and linking them with brain imaging data opens up new avenues for research into the evolution of social skills during child development, and the brain changes underlying this process. In this context, the main hypothesis of this study is that the investigation of the neural bases of autism spectrum disorders, using an approach combining multimodal brain imaging and the investigation of social behavior using eye-tracking, would make it possible not only to better describe abnormalities, but also to identify individual patterns at brain and behavioral level. This could help to better characterize ASDs with and without genetic abnormalities, an area which to date has received very little investigation. In addition, the objective measurements obtained with this approach would also enable the proposal of biomarkers, which would contribute not only to better monitoring of the disorder's evolution, but also to the evaluation of the effectiveness of new therapeutic interventions
Interventions
GENETICResearch of genetic anomalies
For the diagnosis of autism, patients benefit from a a genetic assessment. This is carried out as part of their care
DIAGNOSTIC_TESTMRI
Anatomical and functional images will be acquired and review by an experienced neuro-radiologist
DEVICEEye-tracking
Eye movements and follow a person's gaze will be recorded during visualization of stimuli presented in the screen by analyzing images of the eye captured by an infrared camera
OTHERClinical Scales
CGI, E-CAR and ABC will be used for behavior and clinical evaluation
Sponsors
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Months to 28 Years
Healthy volunteers
Yes
Inclusion criteria
For subjects diagnosed with ASD or suspected of ASD : * 3 months ≤ age \< 25 years ; * an MRI required as part of the clinical procedures * written consent obtained from parents or legal guardians. * Affiliated to social security For Healthy control subjects over 3 years of age: * between 3 and 28 years of age * no known neurological or psychiatric pathology * written consent obtained from parents or legal guardian. * Affiliated to social security For Healthy control subjects under 5 years of age: * age between 3 months and 5 years * who have had an MRI scan in the pediatric radiology department at Necker Hospital, which was found to be normal. * with no known neurological or psychiatric pathology * no opposition from legal representative
Exclusion criteria
* Contraindication to MRI (pacemaker, intracorporeal metallic body, claustrophobia). * Impossibility for healthy volunteers to remain still during MRI
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Rest cerebral blood flow (CBF) | at inclusion | Whole brain rest CBF measured with Arterial spin labelling MRI |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measurements of white matter microstructure - mean diffusivity | at inclusion | Measurements of white matter microstructure integrity by diffusion tensor imaging MRI, measured by mean diffusivity (the mean amount of diffusion in each of the principal directions calculated in the tensor |
| Measurements of white matter microstructure - radial diffusivity | at inclusion | Measurements of white matter microstructure integrity by diffusion tensor imaging MRI, measured by radial diffusivity (the apparent water diffusion coefficient in the direction perpendicular to the axonal fibers) |
| Measurements of white matter microstructure - axial diffusivity | at inclusion | Measurements of white matter microstructure integrity by diffusion tensor imaging MRI, measured by axial diffusivity (the magnitude of diffusion parallel to fiber tracts) |
| Measurements of resting state functional connectivity | at inclusion | MRI-resting state measurements of correlation coefficients between different regions within different brain networks, in particular the social brain network. |
| Correlation between social perception and multimodal brain imaging | at inclusion | Correlation measurements between social perception parameters measured by eye-tracking (number of fixations in social and non-social regions) and various multimodal brain imaging parameters obtained with MRI. |
| Correlation between clinical severity and multimodal brain imaging | at inclusion | Measures of correlation between autism severity scores measured by the ADI-R and various multimodal brain imaging parameters obtained in MRI |
| Measurements of white matter microstructure - fractional anisotropy | at inclusion | Measurements of white matter microstructure integrity by diffusion tensor imaging MRI, measured by fractional anisotropy (indicates the orientation of diffusion) |
| Social perception abnormalities associated with known genetic mutations | at inclusion | Social perception measures (number of fixations in social and non-social regions) in patients with a known genetic abnormality compared with the same measures obtained in patients without known genetic abnormalities or in healthy controls. |
| Anatomic changes over time - study of developmental trajectory | 2 years | Measures of change over time (between inclusion and 2 years) in brain anatomy and function in a subgroup of ASD patients and healthy volunteers. |
| Social perception changes over time - study of developmental trajectory | 2 years | Measures of change over time (between inclusion and 2 years) in social perception parameters in a subgroup of ASD patients and healthy volunteers. |
| Brain imaging in young children associated with ASD | at inclusion | Multimodal brain imaging measures in young patients (\<5 years) with a ASD compared with the same measures obtained in young children (\<5 years) without ASD (control children) |
| Early data on social perception | at inclusion | Social perception measures (number of fixations in social and non-social regions) in very young patients with ASD (3 months to 5 years) compared with a subgroup of control children aged under 5 years |
| Imaging abnormalities associated with known genetic mutations | at inclusion | Multimodal brain imaging in patients with a known genetic abnormality compared with the same measures obtained in patients without known genetic abnormalities or in healthy controls. |
Countries
France
Contacts
Primary ContactNathalie BODDAERT, MD, PhD
Backup ContactVictor BRUYERE, Master
Outcome results
None listed