A distinct cognitive profile in individuals with 3q29 deletion syndrome.
Background: 3q29 deletion syndrome is associated with mild to moderate intellectual disability as well as comorbid psychopathology such as ADHD, anxiety, ASD and schizophrenia. A greater understanding of specific profiles that could increase risk for psychopathology is necessary in order to best und...
| Publicado en: | Journal of Intellectual Disability Research Vol. 67; no. 3; pp. 216 - 228 |
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| Autores principales: | , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Mar2023
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=162030812&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 162030812 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09642633 EUL jtl: Journal of Intellectual Disability Research issn: 09642633 maglogo: Y pubinfo: dt: Mar2023 vid: 67 iid: 3 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 162030812 155789185 162030812 162030812 10.1111/jir.12919 162030812 ppf: 216 ppct: 12 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: A distinct cognitive profile in individuals with 3q29 deletion syndrome. aug: au: Klaiman, C. White, S. P. Saulnier, C. Murphy, M. Burrell, L. Cubells, J. Walker, E. Mulle, J. G. affil: Department of Pediatrics, School of Medicine, Emory University, Atlanta GA,, USA sug: subj: Chromosome Disorders Cognition Intellectual Disability, X-Linked Comorbidity Psychopathology Human Child Adolescence Adult Male Female Phenotype Descriptive Statistics Funding Source Child: 6-12 years Adolescent: 13-18 years Adult: 19-44 years Male Female ab: Background: 3q29 deletion syndrome is associated with mild to moderate intellectual disability as well as comorbid psychopathology such as ADHD, anxiety, ASD and schizophrenia. A greater understanding of specific profiles that could increase risk for psychopathology is necessary in order to best understand and support individuals with 3q29 deletion syndrome. The goal of this study was to thus carefully outline the strengths and weaknesses of these individuals. A second goal was to ask whether the cognitive impact of the deletion predicted psychopathology in other domains. Methods: We systematically evaluated cognitive ability, adaptive behaviour and psychopathology in 32 individuals with the canonical 3q29 deletion using gold‐standard instruments and a standardised phenotyping protocol. Results: Mean full scale IQ was 73 (range 40–99). Verbal subtest score (mean 80, range 31–106) was slightly higher and had a greater range than non‐verbal subtest score (mean 75, range 53–98). Spatial ability was evaluated in a subset (n = 24) and was lower than verbal and non‐verbal ability (mean 71, range 34–108). There was an average 14‐point difference between verbal and non‐verbal subset scores; 60% of the time the verbal subset score was higher than the non‐verbal subset score. Study subjects with a verbal ability subtest score lower than the non‐verbal subtest score were four times more likely to have a diagnosis of intellectual disability (suggestive, P value 0.07). The age at which a child first spoke two‐word phrases was strongly associated with measures of verbal ability (P value 2.56e‐07). Cognitive ability was correlated with adaptive behaviour measures (correlation 0.42, P value 0.02). However, although group means found equivalent scores, there was, on average, a 10‐point gap between these skills (range −33 to 33), in either direction, in about 50% of the sample, suggesting that cognitive measures only partially inform adaptive ability. Cognitive ability scores did not have any significant relationship to cumulative burden of psychopathology nor to individual neurodevelopmental or psychiatric diagnoses. Conclusions: Individuals with 3q29 deletion syndrome have a complex pattern of cognitive disability. Two‐thirds of individuals with the deletion will exhibit significant strength in verbal ability; this may mask deficits in non‐verbal reasoning, leading to an overestimation of overall ability. Deficits in verbal ability may be the driver of intellectual disability diagnosis. Cognitive ability is not a strong indicator of other neurodevelopmental or psychiatric impairment; thus, individuals with 3q29 deletion syndrome who exhibit IQ scores within the normal range should receive all recommended behavioural evaluations. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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