intellectual disability SATB2-associated syndrome
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: - A molecular diagnosis of SATB2-associated syndrome (SAS) - At least two years old at the time of testing - Raised in Dutch-speaking family
Exclusion criteria
Exclusion criteria: - the presence of another gene disruption/molecular diagnosis that is likely to contribute to the neurodevelopmental phenotype
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| A common speech and language phenotype (*deep phenotype*) for patients with SAS, with a detailed description on three different domains: oral motor skills, speech and language. In addition to that, a non-verbal and/or performance IQ score. | — |
Countries
Netherlands
Outcome results
None listed