Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 2025-A02283-46 | Registry Identifier | ID-RCB |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social characteristics: people with Down syndrome, who are often described as being hypersocial, and people with Fragile X syndrome, who are often characterized by a completely opposite social behaviour profile, with a withdrawn attitude and significant social anxiety.
The three different types of mechanisms that contribute to the adjustment of interpersonal trust: affective evaluation, trait attribution, and epistemic evaluation of informants, will be studied. Affective evaluation processes recruit subcortical structures such as the amygdala and assess potential social threats in the environment. The second mechanism for selecting whom to trust consists of forming a representation of a person's dispositions, such as benevolence and competence (also known as traits), and using it to predict that person's future behaviour. Trait attribution processes recruit a cortico-cerebellar network comprising the mPFC, CRUS I and posterior lobule VI. The third mechanism, called epistemic vigilance, allows to adjust our trust in what others communicate to us. This mechanism involves linking the assessment of the reliability of individuals who communicate (based on their benevolence and competence) with the reliability of the communicated information. Epistemic assessment involves frontal areas and areas associated with the representation of mental states in order to enable the evaluation of the truthfulness of the communicated information. All of these mechanisms become functional very early on, before a child's sixth birthday. There are reasons to expect that several of these central mechanisms supporting selective trust will behave atypically in intellectual disability.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Down Syndrome patients | Patients aged 13 to 29 years old with a confirmed diagnosis of Down Syndrome |
| |
| Fragile X Syndrome patients | Patients aged 13 to 29 years old with a confirmed diagnosis of Fragile X Syndrome |
| |
| Chronological age-matched controls | Persons aged 13 to 29 years old with typical development |
| |
| Mental age-matched controls | Persons aged 3 to 9 years old with typical development |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Confidence adjustment assessment | Other | Interpersonal trust assessment including a series of behavioural and eye-tracking studies (Paradigm 1 : Forming impressions using facial cues; Paradigm 2 : Forming impressions using behaviors) and assessment of epistemic trust (Paradigm 3 : assessing informants, Paradigm 4 : vigilance towards deception), will be performed at visit V1. |
| Measure | Description | Time Frame |
|---|---|---|
| Error rate (percentage) for each of the four paradigms. | Paradigm 1 /Facial trait assessment : Error rates for each condition (3 levels of difficulty) and 2 types of questions (traits/behaviours) Paradigm 2 / Behaviour assessment: Error rates for each of the three conditions (traits-to-behaviour, behaviour-to-traits, and behaviour-to-behaviour) Paradigm 3/ Assessing informants : error rates for each type of informant Paradigm 4 / Vigilance towards deception: Error rates concerning the location of the pompom, for each of the four conditions: baseline, benevolence, malicious intent, and explicit falsehood of the character. | Day 1 |
| Response time (millisecond) for two of the four paradigms. | Paradigm 1 / Facial trait assessment: Analysis of response times (in milliseconds) for each condition (3 levels of difficulty (easy/moderate/difficult) and 2 types of questions (traits/behaviours) obtained using Presentation® software. Paradigm 2 / Behaviour assessment: Analysis of response times (in milliseconds) for each of the three conditions (traits-to-behaviour, behaviour-to-traits, and behaviour-to-behaviour) using Presentation software. | Day 1 |
| Analysis of visual strategies for eye-tracking experiments. | Paradigm1 / Facial trait assessment: Observation time on different areas of interest (AOI eyes, AOI nose-mouth) obtained using the eye tracker (Tobii ProLab). Paradigm 2 / Behaviour assessment: measurement of time spent on each region of interest corresponding to the task images (in milliseconds) obtained using the eye tracker (Tobii ProLab) | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of epilepsy (Yes/No) | Data from clinical examination and medical file | Day 1 |
| Developmental trajectory |
|
Not provided
Inclusion Criteria :
Group of Down Syndrom patients
Group of X-Fragile Syndrome
Group of chronological age-matched control
Group of mental age-matched control
Exclusion Criteria:
Groups of Down Syndrom and X-Fragiles patients
Regarding the neuroimaging (MRI) study:
Groups of typical development persons (chronological age-matched and mental age-matched)
Regarding the neuroimaging (MRI) study (only for chronological age-matched group):
Not provided
Not provided
Four groups of participants will be included in the study:
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| CURIE MD AURORE, MD | Contact | +33 (0)6.70.62.69.76 | Aurore.curie@chu-lyon.fr |
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Reference Center of Rare Disease with Intellectual Disability in Lyon, Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon | Bron | 69500 | France |
Not provided
Not provided
Not provided
Not provided
|
| clinical assessment | Other | Clinical assessment including Medical history, developmental trajectory, epilepsy history, clinical examination, presence of autism spectrum disorder, presence of cardiopathy, will be performed at visit V1. |
|
| Cognitive assessment | Other | Cognitive assessment including Raven Matrix, Wechsler Scale (WISC-V or WAIS IV), Vineland Adaptive Behavior Scale II, PPVT5, EVT3, will be performed at visit V1. |
|
| Executive function assessment | Other | Executive function assessment including Laby 5-12 test, day/night Test, Questionnaire BRIEF-2, will be performed at visit V1. |
|
| Sociability assessment | Other | Sociability assessment including Social Responsiveness Scale 2, Revised Preschool Anxiety Scale, two eye-tracking tasks (social scenes and social preference), Perception bias task, Distance adjustment task, Social motivation tasks, Examiner's assistance task, will be performed at visit V1. |
|
| Brain MRI (structural and functional) | Other | Optional brain MRI acquisition (structural and functional) will be performed at ancillary visit |
|
| Day 1 |
| Mental age, in years, [4-12 years] assessed with the Raven's Progressive Matrices test | Cognitive assessment | Day 1 |
| Presence of an associated autism spectrum disorder (Yes/No) | Data from clinical examination and medical file | Day 1 |
| Existence of cardiac malformation (Yes/No). | Data from clinical examination and medical file | Day 1 |
| Total IQ [40-160] from Wechsler scales adapted for age (WISC-V for patients aged above 6 years, and WAIS-IV for patients above 16 years) | Cognitive assessment assessing the intelligence quotient of the participant. Intellectually disabled patients have an IQ below 70. | Day 1 |
| Global score [20 - 160] and standard scores [20 - 160] for the areas of adaptive skills (communication, daily life, socialisation, and motor skills) with the VABS2. | Adaptive assessment based on interview with the parents of the patient. A score below 70 is considered as impaired. | Day 1 |
| Receptive and expressive lexical age [2-19] (in years) with PPVT5 and EVT3 tests respectively | Language assessment. These two tests allow the assessment of receptive and expressive language level (lexical age). | Day 1 |
| Z scores [-5; +5] for the General Error Index, the Delay Aversion Index, and the Inhibition Index with Laby 5-12 test. | Executive function assessment (planification) - The Z-score is used to assess a child's performance in relation to that of a normative group. A Z-score < -2 means a clinically relevant impairment | Day 1 |
| Score [0 -16] for the control condition and for the test condition with the Day/night test. | Executive function assessment (inhibition) A score ≤ 8 indicates a weak performance and a potential weakness in executive functions | Day 1 |
| T-scores [0 -100] for the overall executive score with the BRIEF-2 questionnaire | Executive function assessment A T-score > 65 means clinically relevant executive difficulties. | Day 1 |
| Total T scores [30 - 90] with SRS-2 scale | Sociability assessment A T-score > 76 indicates severe social difficulties. | Day 1 |
| Total score [0 -140] with the Liebowitz Social Anxiety Scale for Children and Adolescents | Sociability assessment A score above 70 indicates a severe social anxiety. | Day 1 |
| Observation time (in seconds) on social AOIs (Areas of Interest) and non-social AOIs for Social scene task in eye-tracking. | Sociability assessment | Day 1 |
| Proportion of fixation time on the social vs non-social AOI for Social preference task in eye-tracking | Sociability assessment | Day 1 |
| Latency, in milliseconds, of the first fixation on each type of AOI for Social preference task in eye-tracking. | Sociability assessment | Day 1 |
| Error rate, in percentage, for the Perception bias task | Sociability assessment | Day 1 |
| Score [1-6] for the Distance adjustment task | Sociability assessment The score is determined according to the distance at which the participant sits compared to the position of the unknown person | Day 1 |
| Social motivation score [1-6] for the social motivation task | Sociability assessment | Day 1 |
| Score [0-12] reflecting the willingness of the participant to help the examiner for the Examiner's assistance task | Sociability assessment The score will reflect if the participant does it spontaneously, or only one suggested, or only once explicitly mentioned or not al all. | Day 1 |
| Presence (Yes/No) of cerebral abnormalities from neuroimaging data. |
| Day 2 |
| Brain volume (mm3) and surfacic analysis (in mm) using Freesurfer software on 3DT1 morphometric data. Freesurfer analysis | Neuroimaging analysis. Brain volume and surfacic analysis will be performed using the Freesurfer software, allowing to compare between the 3 groups of participants (Fragile X, DS and controls). | Day 2 |
| Functional anisotropy (FA), mean diffusivity (MD), axial and radial diffusivity using Track-Based Spatial Statistics (TBSS) software. | Neuroimaging diffusion data analysis. | Day 2 |
| Brain regions (clusters) activation (BOLD signal) during the assessment of the character's reliability. | Neuroimaging functional MRI analysis. The BOLD signal reflects local and transient variations in the amount of oxygen carried by haemoglobin as a function of neuronal activity in the brain. fMRI data will be analyzed using FSL software. | Day 2 |
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D005600 | Fragile X Syndrome |
| D008607 | Intellectual Disability |
| ID | Term |
|---|---|
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D038901 | X-Linked Intellectual Disability |
| D025064 | Sex Chromosome Disorders |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
Not provided
Not provided
| ID | Term |
|---|---|
| D000073216 | Mental Status and Dementia Tests |
| D009483 | Neuropsychological Tests |
| D000085542 | Functional Status |
| ID | Term |
|---|---|
| D011581 | Psychological Tests |
| D004191 | Behavioral Disciplines and Activities |
| D000203 | Activities of Daily Living |
| D012046 | Rehabilitation |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D006304 | Health Status |
| D003710 | Demography |
| D015991 | Epidemiologic Measurements |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
Not provided
Not provided