Age-Related Improvements in Executive Functions and Focal Attention in 22q11.2 Deletion Syndrome Vary Across Domain and Task

Abstract

Objective: 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. Method: 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: 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. Conclusions: 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.

Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis

“…= 12.8). Interestingly, the dissociation between verbal and nonverbal domains has also been observed in memory (Bearden et al, 2001 ; Maeder, Zuber, Schneider, Kliegel, & Eliez, 2022 ; Woodin et al, 2001 ).…”

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants

“…Results for the expressive language composite based on Recalling Sentences and Formulated Sentences were in line with the core language scores. Higher proportions of difficulties with Concepts and Following Directions and Recalling Sentences might be related to impaired working memory, attention, and executive functioning in both groups of children, which has been previously described in 22q11.2DS [ 2 , 65 , 66 , 67 , 68 , 69 , 70 ]. Thus, qualitatively, children with 22q11.2Dup seemed to show lower proportions of language difficulties and higher language scores, with challenges across similar domains compared to children with 22q11.2DS.…”

Effects of risperidone on psychotic symptoms and cognitive functions in 22q11.2 deletion syndrome: Results from a clinical trial

“…Moreover, WM and attention were the domains with the most improvements in treated participants. Strikingly, deficits in both domains characterize the cognitive profile of both 22q11DS ( 6 , 34 ) and idiopathic schizophrenia ( 3 , 35 ). Our findings are supported by previous studies in non-deleted individuals with psychosis which investigated the effects of antipsychotics on both verbal and spatial components of WM.…”