With this study we aim to define a detailed oral motor, speech and language profile for patients with SAS.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Mental impairment disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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.
Secondary outcome
NA
Background summary
SATB2 is among the most frequently disrupted genes in neurodevelopmental
disorders. Patients with SATB2-associated syndrome (SAS) have general
developmental delays and intellectual disability, but speech/language
development is relatively more severely affected. Patients with SAS generally
have limited or absent speech, while language comprehension seems to be more
preserved. So far, not much is known on the details of this disturbed speech
and language development.
Better knowledge on the communication skills and deficits of SAS patients can
guide treatment and interventions, and help in better understanding of
pathogenesis of disorder.
Study objective
With this study we aim to define a detailed oral motor, speech and language
profile for patients with SAS.
Study design
This study is an observational study, with a descriptive study design. Subjects
with SAS will undergo speech/language testing, together with baseline
neuropsychological testing.
Study burden and risks
There are no risks associated with participation. The burden for patients will
be small, and the study can only be done using this patient group. As there is
currently a clear lack of knowledge about the speech/language phenotype for
SAS, results from this study could help parents/caregivers and therapists in
better recognizing and understanding the speech/language problems and skills.
This could also guide interventions in a speech therapy setting.
Geert Grooteplein Zuid 10
Nijmegen 6525GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525GA
NL
Listed location countries
Age
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
- the presence of another gene disruption/molecular diagnosis that is likely to contribute to the neurodevelopmental phenotype
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL64562.091.18 |