Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.

Autor:	Vingerhoets C; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands., Ruiz-Fernandez J; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and INSERM U1299, Centre Borelli UMR9010, ENS-Paris-Saclay, Université Paris Saclay, Paris, France., von Scheibler E; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Koraal, Maastricht, The Netherlands., Vergaelen E; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Volbragt N; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Soons N; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Serrarens C; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Vogels A; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Boot E; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; and The Dalglish Family 22q Clinic, Toronto, Ontario, Canada., van Amelsvoort T; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Swillen A; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Jazyk:	angličtina
Zdroj:	BJPsych open [BJPsych Open] 2024 Nov 11; Vol. 10 (6), pp. e203. Date of Electronic Publication: 2024 Nov 11.
DOI:	10.1192/bjo.2024.745
Abstrakt:	Background: 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology. Most of the research has been conducted in children and adolescents, although the majority of affected individuals live well into adulthood. Hence, limited data are available on functional outcomes in adults. Aims: To provide more insight in cognitive and adaptive abilities, and daily life functioning (marital status, living situation and work situation) in adults with 22q11.2DS. Method: This retrospective study included 250 Dutch-speaking adults (16-69 years) with 22q11.2DS from three sites in The Netherlands and Belgium. Data on full-scale IQ (FSIQ) scores (assessed with the Wechsler Adult Intelligence Scale), adaptive functioning (assessed with the Vineland Adaptive Behavior Scale II), and functional outcomes including marital status, living and work situation were systematically collected from clinical files. In addition, we examined predictors of adaptive functioning. Results: The majority of individuals in our adult sample demonstrated a low level of adaptive functioning (65%). In contrast to previous findings in children and adolescents, the majority functioned at an intellectual disability level (56%). Male sex, lower FSIQ and autism spectrum disorder were predictors of lower adaptive functioning ( P = 0.016, P < 0.001 and P = 0.16, respectively). Conclusions: These results suggest that low levels of cognitive and adaptive functioning are common in adults with 22q11.2DS. Future longitudinal and multicentre studies including older patients (>40 years) are needed to further investigate cognitive and adaptive trajectories and their interactions with physical and psychiatric comorbidities.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu