Witteveen-Kolk syndrome
Conditions
Interventions
The tailor-made, non-medical intervention is designed by an experienced
multidisciplinary intradisciplinary team, constitutes the regular course of
action after diagnoses, also known as standard pra
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in psychiatric and neuropsychological assessment for this study, all subjects (i.e., participants with RGNS and typically developing children) must meet all of the following criteria: * Biological age above 3 years, because of reliability in diagnostic procedures. * Written informed consent. * Ability to speak Dutch. Additionally a total IQ above 50 is required to be eligible for participation the treatment fase. In addition to the inclusion criteria stated above, all participants with RGNS must meet the following criteria: - Molecular confirmed syndrome diagnosis (i.e. confirmed pathogenic defect in SIN3A, ARID1B/ARID1A/ARID2/SMARCB1/SMARCA4/SMARCE1/SOX11/SMARCC2, ANKRD11, FOXP1, MAOA or KMT2A)
Exclusion criteria
Exclusion criteria: - Subjects that also have another molecular diagnosis that is likely to contribute to their developmental phenotype - Auditory or visual handicap, unable to sit in a chair - Typical developing participants must not be diagnosed with a mental disorder by the DSM-5 classification system at time of inclusion.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Definition of individual neurocognitive, psychopathological and behavioral profiles associated to specific RGNS. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Definition of group based detailed neurocognitive, psychopathological and behavioural age-related profiles associated to specific RGNS. - Create an overview of the applicability of a set of validated, neurocognitive and behavioural tests adapted to the RGNS. - Development of tailor-made interventions that target behavioural problems, psychopathology and quality of life. - Evaluate the effect of tailor-made interventions on behavioural problems, psychopathology and quality of life. - Identify factors that predict effect of intervention. | — |
Countries
Netherlands
Outcome results
None listed