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. 2024 Nov 11;10(6):e203.
doi: 10.1192/bjo.2024.745.

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

Claudia Vingerhoets  1 , Julia Ruiz-Fernandez  2 , Emma von Scheibler  3 , Elfi Vergaelen  4 , Nele Volbragt  5 , Nele Soons  5 , Chaira Serrarens  5 , Annick Vogels  4 , Erik Boot  6 , Therese van Amelsvoort  5 , Ann Swillen  4
Affiliations

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

Claudia Vingerhoets et al. BJPsych Open. .

Abstract

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.

Keywords: 22q11.2DS; adaptive functioning; adults; cognition; daily life functioning.

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Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Relationships of age with overall adaptive functioning (Vineland Adaptive Behaviour Scale), communication, daily living skills and socialisation. The black dotted line represents the mean standardised score within the norm population (average adaptive functioning).
See this image and copyright information in PMC

References

    1. Blagojevic C, Heung T, Theriault M, Tomita-Mitchell A, Chakraborty P, Kernohan K, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ Open 2021; 9(3): E802–9. - PMC - PubMed
    1. Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med 2023; 25: 100344. - PubMed
    1. Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, et al. Neurobiological perspective of 22q11.2 deletion syndrome. Lancet Psychiatry 2020; 6(11): 951–60. - PMC - PubMed
    1. Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med 2023; 25: 100338. - PubMed
    1. Vorstman JAS, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, et al. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 2015; 72(4): 377–85. - PMC - PubMed

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