Common and specific impairments in attention functioning in girls with chromosome 22q11.2 deletion, fragile X or Turner syndromes

Abstract

BackgroundChromosome 22q11.2 deletion syndrome (22q11.2DS), fragile X syndrome (FXS), and Turner syndrome (TS) are complex and variable developmental syndromes caused by different genetic abnormalities; yet, they share similar cognitive impairments in the domains of numbers, space, and time. The atypical development of foundational neural networks that underpin the attentional system is thought to result in further impairments in higher-order cognitive functions. The current study investigates whether children with similar higher-order cognitive impairments but different genetic disorders also show similar impairments in alerting, orienting, and executive control of attention.MethodsGirls with 22q11.2DS, FXS, or TS and typically developing (TD) girls, aged 7 to 15 years, completed an attention network test, a flanker task with alerting and orienting cues. Exploration of reaction times and accuracy allowed us to test for potential commonalities in attentional functioning in alerting, orienting, and executive control. Linear regression models were used to test whether the predictors of group and chronological age were able to predict differences in attention indices.ResultsGirls with 22q11.2DS, FXS, or TS demonstrated unimpaired function of the alerting system and impaired function of the executive control system. Diagnosis-specific impairments were found such that girls with FXS made more errors and had a reduced orienting index, while girls with 22q11.2DS showed specific age-related deficits in the executive control system.ConclusionsThese results suggest that the control but not the implementation of attention is selectively impaired in girls with 22q11.2DS, TS or FXS. Additionally, the age effect on executive control in girls with 22q11.2DS implies a possible altered developmental trajectory.

Girls’ attentive traits associate with cerebellar to dorsal attention and default mode network connectivity

“…Attention is also frequently affected in children with autism spectrum disorder (ASD), for example, children with ASD can display extreme attention to detail and may have trouble switching attention from one task to another (Auyeung, et al, 2008). Many children with ASD are also diagnosed with ADHD (Christakou, et al, 2013;Di Martino, et al, 2013;Ray, et al, 2014) and attention problems are indeed common to several NDDs, including fetal alcohol spectrum disorder (Kooistra, et al, 2010), fragile X syndrome (Quintero, et al, 2014), Williams syndrome (Atkinson and Braddick, 2011), and Turner syndrome (Quintero, et al, 2014). Rohr et al 4 Attentive traits exist along a continuum in typically developing (TD) individuals and those with ADHD Elton, et al, 2014;Elton, et al, 2016).…”

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…These may include problems in switching attention between tasks, planning, inhibiting inappropriate responses and working memory (the transient holding, processing and manipulation of information) (478,481). Reduced processing speed (the pace at which one takes in information, makes sense of it and begins to respond) is also a frequent finding (478).…”

Annual Research Review: Rare genotypes and childhood psychopathology – uncovering diverse developmental mechanisms of ADHD risk

“…For example, recently, both shared and specific attentional difficulties have been established for girls with 22q11.2 deletion syndrome, FXS or Turner syndrome. All three groups demonstrate executive attention difficulties (Quintero, Beaton, Harvey, Ross, & Simon, ). Contrasting deficits include differences in visuo‐spatial orienting, with girls with FXS being insensitive to visuo‐spatial cues compared to the other groups.…”