IQUE, center for autism spectrum disorders with a rare genetic origi
Recruiting
- Conditions
- autismAutism spectrum disorder100836241005716710012562
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 108
Inclusion Criteria
- Have a rare genetic variant
- Have a (suspected) ASD diagnosis
Exclusion Criteria
- Unable to give informed consent to all aspects of the study (i.e. no parent
or caregiver can provide informed consent (in case of minors and
adolescents/adults with intellectual disability)).
- Physically unable to participate in the study
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>We will use 16 primary outcome measures of our 5 domains of interest related to<br /><br>phenotype (Physical health, Mental health, Cognitive functioning, Brain<br /><br>functioning and Quality of life). The 16 primary outcome measures are:<br /><br><br /><br>- Physical health: Van Wiechen developmental test<br /><br>- Mental health: ADOS-2, Kiddie-SADS, SRS-2 / SRS-A, RBS-R / RBQ-2A, CBCL / YSR<br /><br>/ ASR<br /><br>- Cognitive functioning: IQ test, BRIEF-P / BRIEF / BRIEF-A, 3<br /><br>neuropsychological assessment scores: memory, visuospatial and attention/EF,<br /><br>Vineland screener<br /><br>- Brain functioning: 1 eye-tracking task: Talking/Singing Face paradigm, 2<br /><br>fNIRS tasks: Talking/Singing Face paradigm and Go/No-Go task; 3<br /><br>eye reflex meassurements: eyeblink conditioning, acoustic startle<br /><br>response, startle habituation.<br /><br>- Quality of life: ITQoL / CHQ / SF-36</p><br>
- Secondary Outcome Measures
Name Time Method <p>Our second endpoint for this study is to create a biobank and database for this<br /><br>and future research on rare genetic variants and ASD.</p><br>