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Individuals with autism demonstrate atypical and variable responses to social and emotional stimuli, perhaps reflecting heterogeneity of the disorder. The goal of this study was to determine whether unique profiles of psychophysiological responses to such stimuli could be identified in individuals diagnosed with autism spectrum disorder (ASD), with fragile X syndrome (FXS), and with comorbid autism and fragile X syndrome (ASD + FXS), and in typically developing (TYP) individuals. This study included 52 boys (ages 10-17): idiopathic ASD (n = 12), FXS (n = 12), comorbid ASD + FXS (n = 17), and TYP (n = 11). Physiological responses, including potentiated startle, electrodermal response, heart rate variability, and vagal tone, were collected concurrently while participants viewed emotionally evocative pictures of human faces or nonsocial images. Although some of these measures have been utilized separately for investigations on these diagnostic groups, they have not been considered together. Results using Kruskal-Wallis one-way analysis of variance by ranks indicate statistically significant differences in distributions of autonomic regulation responses between groups. The most notable differences were between the ASD group and both the FXS groups on measures of sympathetic activity, with FXS groups evincing increased activity. Also, both the ASD and ASD + FXS groups showed significantly decreased parasympathetic activity compared with FXS and TYP groups. In addition, the ASD + FXS group demonstrated a unique distribution of startle potentiation and arousal modulation. This study provides evidence that autonomic arousal and regulation profiles could be useful for distinguishing subgroups of autism and shed light on the variability underlying emotional responsivity.

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [nonverbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type. [ABSTRACT FROM AUTHOR]