@article{33dc6ef9e9f74aeebc391dde12409b75,
title = "Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology",
abstract = "22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk of psychiatric disorders and cognitive impairment. It remains unclear to what extent key cognitive skills are associated with psychopathology, and whether cognition is stable over time in 22q11.2DS. 236 children, adolescents and adults with 22q11.2DS and 106 typically developing controls were recruited from three sites across Europe. Measures of IQ, processing speed, sustained attention, spatial working memory and psychiatric assessments were completed. Cognitive performance in individuals was calculated relative to controls in different age groups (children (6-9 years), adolescents (10-17 years), adults (18+ years)). Individuals with 22q11.2DS exhibited cognitive impairment and higher rates of psychiatric disorders compared to typically developing controls. Presence of Autism Spectrum Disorder symptoms was associated with greater deficits in processing speed, sustained attention and working memory in adolescents but not children. Attention deficit hyperactivity disorder in children and adolescents and psychotic disorder in adulthood was associated with sustained attention impairment. Processing speed and working memory were more impaired in children and adults with 22q11.2DS respectively, whereas the deficit in sustained attention was present from childhood and remained static over developmental stages. Psychopathology was associated with cognitive profile of individuals with 22q11.2DS in an age-specific and domain-specific manner. Furthermore, magnitude of cognitive impairment differed by developmental stage in 22q11.2DS and the pattern differed by domain.",
keywords = "autism spectrum, behavior, children, duplication, individuals, neurocognitive profile, psychiatric-disorders, psychosis, risk, schizophrenia, BEHAVIOR, NEUROCOGNITIVE PROFILE, SCHIZOPHRENIA, RISK, CHILDREN, INDIVIDUALS, PSYCHOSIS, PSYCHIATRIC-DISORDERS, DUPLICATION, AUTISM SPECTRUM",
author = "S. Morrison and S.J.R.A. Chawner and {van Amelsvoort}, T.A.M.J. and A. Swillen and C. Vingerhoets and E. Vergaelen and D.E.J. Linden and S. Linden and M.J. Owen and {van den Bree}, M.B.M.",
note = "Funding Information: We are extremely grateful to all the families that participated in this study as well as to support charities Max Appeal, The 22Crew and Unique for their help. We also thank the International 22q11.2 Brain and Behaviour Consortium for their support. The following members of the DEFINE/NCMH/ECHO/IMAGINE teams contributed to participant assessments: Hayley Moss, Rachael Adams, Alister Baird, Sarah Law, Nicola Lewis, Matt Sopp, Sin{\'e}ad Ray, Hayley Moulding, Adam Cunningham, Joanne Doherty, Chris Eaton, Maria Niarchou, Ffion Evans, Jacqueline Smith, Holly Howe, Aim{\'e}e Challenger, Stephen Naughton, Rachel Tompkins, Nadia Pantouw, Ciara Walker, Hannah Pendlebury, Emily Green, Samantha Bowen, Umaya Prasad, Chloe Sheldon. We would also like to thank the following people for supporting the study: Debora Op{\textquoteright}t Eijnde, Esther van Duin, Lucas Lumeij, Gijs Oosting, Nicole Smeets, the Cardiff University Division of Psychological Medicine and Clinical Neurosciences (DPMCN) Core Technical Team. This work was supported by the Wellcome Trust Strategic Award Defining Endophenotypes from Integrated Neuroscience to M.J.O. (DEFINE, grant number 503147); Medical Research Council grant Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment to M.B.M.vd.B. (IMAGINE-ID, grant number MR/L011166/1 and MR/N022572/1.); the National Centre for Mental Health (NCMH), which is a collaboration between Cardiff, Swansea and Bangor Universities funded by Welsh Government through Health and Care Research Wales (grant number 507556); the Baily Thomas Charitable Trust to M.B.M.vd.B. (grant number 2315/1); the Waterloo Foundation to M.B.M.vd.B. (grant number WF918-1234); the National Institute for Mental Health to M.B.M.vd.B. and M.J.O. (NIH, grant number 5UO1MH101724) and a Medical Research Council Doctoral Training grant to S. M. (grant number MR/L010305/1). Publisher Copyright: {\textcopyright} 2020, The Author(s).",
year = "2020",
month = feb,
day = "3",
doi = "10.1038/s41398-020-0736-7",
language = "English",
volume = "10",
journal = "Translational Psychiatry",
issn = "2158-3188",
publisher = "Nature Publishing Group",
number = "1",
}