Abstract
Executive functions (EF) and focal attention have been identified as a weakness in the profile of 22q11.2 deletion syndrome (22q11DS). However, due to a high variety of tasks used across previous studies, it remains unclear whether impairments may be more pronounced for specific subdomains of EF and focal attention. Furthermore, age-related changes have only been examined in a few studies, so far only yielding a partial view of the overall developmental profile. In a broad age range (8-35 years) composed of longitudinal data, 183 participants (103 diagnosed with 22q11DS) completed an extensive assessment of EF and attention. To get a more comprehensive overview of specific versus global impairments, several tasks were assessed within multiple domains. Results suggest differential impairments and trajectories in specific EF subdomains. Specifically, our findings suggest that individuals with 22q11DS not only showed lower overall inhibition skills, but also that initiation skills developed at a slower pace compared to healthy controls. Results are less clear regarding cognitive flexibility, updating and focal attention, for which performance strongly depended on the tasks that was selected to assess the domain. Findings confirm and extend knowledge on differential developmental patterns of EF and attention domains in 22q11DS. They further stress the necessity to administer extensive, multifaceted evaluations to gain a more reliable overview of patients' cognitive profile.
Highlights
Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic condition affecting multiple systems, including the brain, and is associated with a specific neuropsychological profile involving deficits in multiple cognitive domains (McDonald-McGinn et al, 2015)
Due to a high variety of tasks used across previous studies, it remains unclear whether impairments may be more pronounced for specific subdomains of Executive functions (EF) and focal attention
Significant group differences were observed in all measures of visual focal attention, with lower performance in the 22q11DS group for Conners’ Continuous Performance Test omission error % (p = .002), Color Trails Test Adjusted time part A (p < .001), and number of symbols (p < .001)
Summary
Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic condition affecting multiple systems, including the brain, and is associated with a specific neuropsychological profile involving deficits in multiple cognitive domains (McDonald-McGinn et al, 2015). Among these domains, executive functions (EF) are part of the key cognitive abilities affected by the deletion. Deficits in EF and attention have been studied in 22q11DS. Deficits in EF are supported by neuroimaging studies showing structural and functional alterations of frontal regions (known to underlie EF) that correlate with BD 6 5C 7: C: 6 C , /C 7 0 D 90 C 7.
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