Psychopathology and Cognition in CNV disorders

Treatment advances of psychiatric disorders have been limited by lack of mechanistic under-standing of the pathophysiology of the disorders. Increasing our understanding and develop-ment 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 therapeu-tics it is essential to elucidate the trajectory of neurodevelopmental processes and identify biomarkers.
Recurrent copy number variants (CNV’s), including chromosomal variations at loci 22q11.2, 16p11.2, 1q21 and 15q11.2, are among the most common genomic disorders and are associ-ated with increased risk for neuropsychiatric disorders and cognitive dysfunction across the lifespan. Clinical presentations are heterogeneous and include symptoms of depression, anxi-ety, ADHD and psychosis.
Genetic variants with high penetrance, such as the CNVs at 22q11, 16p11, 1q21 and 15q11.2, 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 a unique possibility to track development of psychiatric symptoms and cog-nitive functioning in order to identify genetic and environmental risk factors. Therefore, we aim to study psychopathology, cognition, genetic markers, physical conditions and biological mechanisms in people with CNV disorders.

The objective of this study is to describe cognitive profile and dimensions of psychopathology in subjects with CNV disorders and collect biomaterials for genetic and mechanistic in-vestigation.

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