Psychopathology and Cognition in 22q11 CNV disorders

Schizophrenia (SZ) and psychotic disorders are devastating lifelong illnesses
that are disabling and costly to patients, families, communities, and
healthcare systems. Treatment advances have been limited by lack of mechanistic
understanding of the pathophysiology of the syndrome. The NIMH mission of
transforming the understanding and treatment of mental illness requires
integration of basic and clinical research with cutting-edge approaches in a
developmental context. As in most medical disorders, by the time SZ is
diagnosed it has reached a stage where treatment is a challenge. For early
identification and novel therapeutics it is essential to elucidate the
trajectory of neurodevelopmental processes and identify biomarkers. Such
information on specific disease models can provide a translational bridge
through which this major neuropsychiatric syndrome
can join the *precision medicine* revolution. 22q11 CNV disorders like 22q11
deletion syndrome (22q11DS) en 22q11 duplication syndrome (22q11Dup) are unique
human models to study the development of schizophrenia and to fill the gaps in
our knowledge. People with 22q11DS have a 25-30 times increased risk to develop
schizophrenia, the highest known genetic risk factor. The clinical presentation
between schizophrenia and 22q11DS and idiopathic schizophrenia show a lot of
similarities and both are associated with cognitive decline. In contrast,
people with 22q11Dup seem to be protected from schizophrenia. Research on
schizophrenia and 22q11CNV disorders offer a unique possibility to follow
patients from an early age onwards in order to identify molecular risk factors.
Therefore, we wish to study psychopathology, cognition and genetic markers in
people
with 22q11CNV disorders.

To describe cognitive profile and psychopathology in adults with 22q11 CNV
disorders.

The study design concerns an observational cross-sectional study, investigating
cognitive and psychopathological profiles in 22q11CNV disorders.

The risks and burden associated with participation in this study are minimal
and consists of one venapuncture and collection. This research is justified
considering that according to current medical guidelines people with 22q11DS
are advised to have yearly blood checks for monitoring somatic parameters and
yearly monitoring of psychiatric and cognitive functioning (Bassett et al
2011). Because 22q11CNV disorders are rare disorders, and understanding the
underlying mechanisms of schizophrenia is important, it is important to study
this group of patients.