Abstract
BackgroundThe current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli.MethodsWe used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis.ResultsOn measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group.ConclusionThese findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS.
Highlights
The current study used eye tracking to investigate attention and recognition memory in PhelanMcDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD)
A significant sex difference was found among the groups, χ (4) = 12.36, p = 0.015; a post hoc test of the adjusted residuals tested for groups statistically different from the expected equal distribution of sex across groups
We found that attentional engagement differed for social and non-social images for all groups and that individuals with PMS and a comorbid ASD diagnosis, but not those without comorbid ASD, had lower engagement compared to typically developing controls for social images
Summary
The current study used eye tracking to investigate attention and recognition memory in PhelanMcDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Deficient Shank expression results in atypical cognitive processes that include impaired visual discrimination and memory [14, 25] and diminished expressive communication [4, 6, 55]), yet intact social approach behaviors [14, 17]. Many of these features are seen in the clinical phenotype. In a subset of individual with PMS due to point mutations, De Rubeis et al [16] reported that up to 65% are hyperactive, with broad attentional problems
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