The objective of this study is to describe cognitive profile and dimensions of psychopathology in subjects with CNV disorders.
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Schizophrenia and other psychotic disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Dimensions of psychopathology measured with different questionnaires/interviews
and cognitive functioning measured with a neuropsychological test battery.
Secondary outcome
NA
Background summary
Rare recurrent copy number variants (CNV*s), including chromosomal variations
at loci 22q11.2 and 16p11.2, are among the most common genomic disorders and
are associated with increased risk for neuropsychiatric disorders and cognitive
dysfunction across the lifespan. However, clinical representations are
heterogeneous and include symptoms of depression, anxiety, ADHD and
psychosis.
Treatment advances of psychiatric disorders have been limited by lack of
mechanistic understanding of the pathophysiology of the disorders. Increasing
our understanding and development of treatment of mental illness requires
integration of basic and clinical research with cutting-edge approaches in a
developmental context. For early detection and novel therapeutics it is
essential to elucidate the trajectory of neurodevelopmental processes and
identify biomarkers. Genetic disorders such as 22q11 and 16p11 CNV disorders
are unique human models to study the development of neuropsychiatric profiles
and to fill the gaps in our knowledge. Research on psychopathology and
cognitive function in genetic disorders offers an unique possibility to track
development of psychiatric symptoms and cognitive functioning in order to
identify genetic and environmental risk factors. Therefore, we wish to study
psychopathology, cognition and genetic markers in people with CNV disorders.
Study objective
The objective of this study is to describe cognitive profile and dimensions of
psychopathology in subjects with CNV disorders.
Study design
This study is a cohort describing cognitive and psychopathological profiles in
CNV disorders.
Study burden and risks
The risks and burden associated with this study are minimal and consist of one
venipuncture. In accordance with treatment guidelines, adults with a CNV
disorder, e.g. 22q11 and 16p11 CNVs, undergo a venipuncture at least once a
year to check various somatic parameters. An annual check of psychological
well-being and cognitive functioning is also recommended for these patients.
Participation in this study therefore hardly enhances the burden for patients.
CNV disorders are relatively rare but have the potential to generate necessary
insights into the genetic and environmental mechanisms that underlie
psychopathology. It is therefore important to study these unique disease
models.
vijverdalseweg 1
maastricht 6226NB
NL
vijverdalseweg 1
maastricht 6226NB
NL
Listed location countries
Age
Inclusion criteria
In order to be eligible to participate in this study, a subject must meet all
of the following criteria:
- A CNV disorder confirmed by FISH, micro-array or MLPA analysis.
- Mentally competent (ability to give informed consent) and aged 12-16 years.
In this case consent will also be given by the parents or legally authorized
representative of the subject.
-Mentally competent (ability to give informed consent) and aged 16 years and
older.
-Mentally incompetent aged 12 years and older. In this case consent will be
given by the legal representative of the participant.
Exclusion criteria
A potential subject who meets any of the following criteria will be excluded
from participation in this study:
-Medical or neurological disorders that may affect brain function (e.g. head
trauma, CNS tumor)
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
In other registers
| Register | ID |
|---|---|
| CCMO | NL70681.068.19 |