Abstract
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the proximal and distal information processes that utilize these representations. Impairment of spatial and temporal information processing likely underpins the non-verbal cognitive impairments observed in 22q11.2 deletion syndrome (22q11DS). The present study builds on prior research by seeking to quantify the resolution of spatial and temporal representation in children with 22q11DS, sex chromosome aneuploidy (SCA), and a typically developing (TD) control group.Participants and methodsChildren (22q11DS = 70, SCA = 49, TD = 46) responded to visual or auditory stimuli with varying difference ratios. The participant’s task was to identify which of two sequentially presented stimuli was of larger magnitude in terms of, size, duration, or auditory frequency. Detection threshold was calculated as the minimum difference ratio between the “standard” and the “target” stimuli required to achieve 75% accuracy in detecting that the two stimuli were different.ResultsChildren with 22q11DS required larger magnitude difference between spatial stimuli for accurate identification compared with both the SCA and TD groups (% difference from standard: 22q11DS = 14; SCA = 8; TD: 7; F = 8.42, p < 0.001). Temporal detection threshold was also higher for the 22q11DS group to both visual (% difference from standard: 22q11DS = 14; SCA = 8; TD = 7; F = 8.33, p < 0.001) and auditory (% difference from standard: 22q11DS = 23; SCA = 12; TD: 8; F = 8.99, p < 0.001) stimuli compared with both the SCA and TD groups, while the SCA and TD groups displayed equivalent performance on these measures (p's > 0.05). Pitch detection threshold did not differ among the groups (p's > 0.05).ConclusionsThe observation of higher detection thresholds to spatial and temporal stimuli indicates further evidence for reduced resolution in both spatial and temporal magnitude representation in 22q11DS, that does not extend to frequency magnitude representation (pitch detection), and which is not explained by generalized cognitive impairment alone. These findings generate further support for the hypothesis that spatiotemporal hypergranularity of mental representations contributes to the non-verbal cognitive impairment seen in 22q11DS.
Highlights
Individuals with one of a range of genetic neurodevelopmental disorders, including chromosome 22q11.2 deletion syndrome (22q11DS), Turner syndrome [1,2,3], Fragile X syndrome [4, 5], and Williams syndrome [6,7,8,9,10,11], show difficulties with processing visuospatial and numerical information
Temporal detection threshold was higher for the Chromosome 22q11.2 deletion syndrome (22q11DS) group to both visual (% difference from standard: 22q11DS = 14; sex chromosome aneuploidy (SCA) = 8; typically developing (TD) = 7; F = 8.33, p < 0.001) and auditory (% difference from standard: 22q11DS = 23; SCA = 12; TD: 8; F = 8.99, p < 0.001) stimuli compared with both the SCA and TD groups, while the SCA and TD groups displayed equivalent performance on these measures (p's > 0.05)
The observation of higher detection thresholds to spatial and temporal stimuli indicates further evidence for reduced resolution in both spatial and temporal magnitude representation in 22q11DS, that does not extend to frequency magnitude representation, and which is not explained by generalized cognitive impairment alone
Summary
Individuals with one of a range of genetic neurodevelopmental disorders, including chromosome 22q11.2 deletion syndrome (22q11DS), Turner syndrome [1,2,3], Fragile X syndrome [4, 5], and Williams syndrome [6,7,8,9,10,11], show difficulties with processing visuospatial and numerical information. It is unclear whether the capacity to form accurate mental representations of stimuli is limited to the spatial and temporal domains, or impacts other domains as well (e.g., the pitch characteristics of auditory stimuli)
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