Neurodevelopmental disorders Neurodevelopmental disorders
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: To be eligible to participate in this study, a subject must meet all the following criteria: • Molecular confirmed syndrome diagnosis (confirmed pathogenic defect in DDX3X, SETD1A, KANSL1, ANKRD11, DYRK1A, PPM1D, YY1, RAI1, or a 17p11.2 deletion) • Age 4 years and above • The participant and/or their carers are fluent in Dutch • Written informed consent For controls we have the following inclusion criteria: • No indications for the presence of a RGNS • Age above 10 years • The participant and/or their carers are fluent in Dutch • Written informed consent by participant, legal guardian, or both if applicable.
Exclusion criteria
Exclusion criteria: There are no exclusioncriteria for the participants. For controls we have the following exclusion criteria: • A known diagnosis of a systemic (auto)immune disorder (e.g. any disease affecting the immune cells, systematic lupus erythematosus and related disorders, rheumatoid artritis, vasculitis, systemic sclerodermia) • Use of an immunosuppressive agent (e.g. corticosteroids, azathioprin, ciclosporin, hydroxychloroquin, methotrexate, tacrolimus, biologicals) • Fever or clinical signs of infection at the moment of venipuncture
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Per participant: 1. Immunological profile (based on medical history, blood measures) 2. Outcomes of neurocognitive and behavioral measures: outcomes of the different questionnaires and intelligence tests. | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicable. | — |
Countries
Netherlands
Contacts
Public ContactJ.R. Zinkstok
Radboud Universitair Medisch Centrum
Outcome results
None listed