2020
DOI: 10.1038/s41398-020-0736-7
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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 c… Show more

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Cited by 38 publications
(71 citation statements)
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“…Using the ANT, children with 22q have shown difficulties adjusting their attentional focus to inhibit the processing of irrelevant stimuli, and have shown difficulties disengaging their attention from inappropriately-cued locations, compared to typically-developing (TD) children ( Bish et al, 2005 , Sobin et al, 2004 , Stoddard et al, 2011 ). Recent work has also reported a consistent deficit in sustained attention that occurs throughout childhood, adolescence, and adulthood in people with 22q, with the greatest deficit observed in adults with a psychotic disorder ( Morrison et al, 2020 ). Similar attentional control impairments have been documented extensively in people with schizophrenia across multiple domains relative to healthy control groups, as measured with Stroop, AX-CPT, and antisaccade tasks ( Bansal et al, 2021 , Cohen et al, 1999 , Galaverna et al, 2012 , Manoach et al, 2002 , McDowell et al, 2002 , Radant et al, 2007 , Sereno and Holzman, 1995 , Westerhausen et al, 2011 ).…”
Section: Introductionmentioning
confidence: 95%
“…Using the ANT, children with 22q have shown difficulties adjusting their attentional focus to inhibit the processing of irrelevant stimuli, and have shown difficulties disengaging their attention from inappropriately-cued locations, compared to typically-developing (TD) children ( Bish et al, 2005 , Sobin et al, 2004 , Stoddard et al, 2011 ). Recent work has also reported a consistent deficit in sustained attention that occurs throughout childhood, adolescence, and adulthood in people with 22q, with the greatest deficit observed in adults with a psychotic disorder ( Morrison et al, 2020 ). Similar attentional control impairments have been documented extensively in people with schizophrenia across multiple domains relative to healthy control groups, as measured with Stroop, AX-CPT, and antisaccade tasks ( Bansal et al, 2021 , Cohen et al, 1999 , Galaverna et al, 2012 , Manoach et al, 2002 , McDowell et al, 2002 , Radant et al, 2007 , Sereno and Holzman, 1995 , Westerhausen et al, 2011 ).…”
Section: Introductionmentioning
confidence: 95%
“…Neuropsychiatric CNVs have pleiotropic manifestations across physical, psychiatric and cognitive domains [ 29 •• , 30 , 31 ], and therefore carriers often have a history of disparate care from different medical specialties without a unifying diagnosis. Importantly, substantial evidence is now emerging that phenotypic changes across several CNVs follow a prescribed time-course, allowing interventional opportunity for clinical management [ 29 •• , 32 , 33 ]. Whilst patients with neuropsychiatric CNVs can initially present to many different specialities, once a CNV has been confirmed, there is a need to consider appropriate multi-disciplinary care including access to neuropsychiatric expertise as well as the need for holistic care from relevant practitioners such as physical and occupational therapists, genetic counsellors, dieticians and social workers.…”
Section: Clinical Evaluationmentioning
confidence: 99%
“…Neuropsychological assessment of executive functions is commonly done in adolescents, similarly to adults, using tasks such as the Wisconsin Card Sorting Test (WCST; Hintze and Borkowska, 2015 ; Pontillo et al, 2019 ), and the CANTAB Intra-/Extra-dimensional set-shifting task (ID/ED; Barnett et al, 2010 ; Keeler and Robbins, 2011 ; Papanastasiou et al, 2018 ; Morrison et al, 2020 ). These tasks measure attentional set-shifting abilities (Keeler and Robbins, 2011 ) and are sensitive in detecting early cognitive abnormalities in a wide range of mental disorders including autism spectrum disorders (Hill, 2004 ; Kado et al, 2020 ), schizophrenia (Ceaser et al, 2008 ; Pontillo et al, 2019 ), obsessive-compulsive disorders (Head et al, 1989 ; Pauls et al, 2014 ) and attention-deficit/hyperactive disorders (ADHD; Chamberlain et al, 2011 ; Uytun et al, 2017 ).…”
Section: Introductionmentioning
confidence: 99%