UNIQUE, center for autism spectrum disorders with a rare genetic origin

UNIQUE, center for autism spectrum disorders with a rare genetic origin - ASD with a rare genetic origin

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON54421

Enrollment

108

Registered

2021-06-07

Start date

2021-11-01

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

autism Autism spectrum disorder

Interventions

None listed

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

Inclusion criteria: - Have a rare genetic variant - Have a (suspected) ASD diagnosis

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
We will use 16 primary outcome measures of our 5 domains of interest related to phenotype (Physical health, Mental health, Cognitive functioning, Brain functioning and Quality of life). The 16 primary outcome measures are: - Physical health: Van Wiechen developmental test - Mental health: ADOS-2, Kiddie-SADS, SRS-2 / SRS-A, RBS-R / RBQ-2A, CBCL / YSR / ASR - Cognitive functioning: IQ test, BRIEF-P / BRIEF / BRIEF-A, 3 neuropsychological assessment scores: memory, visuospatial and attention/EF, Vineland screener - Brain functioning: 1 eye-tracking task: Talking/Singing Face paradigm, 2 fNIRS tasks: Talking/Singing Face paradigm and Go/No-Go task; 3 eye reflex meassurements: eyeblink conditioning, acoustic startle response, startle habituation. - Quality of life: ITQoL / CHQ / SF-36	—

Measure

Time frame

We will use 16 primary outcome measures of our 5 domains of interest related to phenotype (Physical health, Mental health, Cognitive functioning, Brain functioning and Quality of life). The 16 primary outcome measures are: - Physical health: Van Wiechen developmental test - Mental health: ADOS-2, Kiddie-SADS, SRS-2 / SRS-A, RBS-R / RBQ-2A, CBCL / YSR / ASR - Cognitive functioning: IQ test, BRIEF-P / BRIEF / BRIEF-A, 3 neuropsychological assessment scores: memory, visuospatial and attention/EF, Vineland screener - Brain functioning: 1 eye-tracking task: Talking/Singing Face paradigm, 2 fNIRS tasks: Talking/Singing Face paradigm and Go/No-Go task; 3 eye reflex meassurements: eyeblink conditioning, acoustic startle response, startle habituation. - Quality of life: ITQoL / CHQ / SF-36

—

Secondary

Measure	Time frame
Our second endpoint for this study is to create a biobank and database for this and future research on rare genetic variants and ASD.	—

Countries

Netherlands

Outcome results