1. Charbonneau G, Bertone A, Lepore F, Nassim M, Lassonde M, Mottron L, Collignon O. {{Multilevel deficits in the processing of audio-visual emotion expressions in Autism Spectrum Disorders}}. {Neuropsychologia};2013 (Feb 22)
The ability to recognize and integrate emotions from another person’s facial and vocal expressions is a fundamental cognitive skill involved in the effective regulation of social interactions. Deficits in such abilities have been suggested as a possible source for certain atypical social behaviours manifested by persons with autistic spectrum disorders (ASD). In the present study, we assessed the recognition and integration of emotional expressions in individuals with ASD using a validated set of ecological stimuli comprised of dynamic visual and auditory (non-verbal) vocal clips. Participants with ASD and typically developing controls (TD) were asked to discriminate between clips depicting expressions of disgust and fear either presented visually, auditorily or bimodally (audio-visual). The group of participants with ASD was less efficient to discriminate emotional expressions across all conditions (unimodal and bimodal). Moreover, they necessitated a higher signal-to-noise ratio for the discrimination of visual or auditory presentations of disgust versus fear expressions. These results suggest an altered sensitivity to emotion expressions in this population that is not modality-specific. In addition, the group of participants with ASD benefited from exposure to bimodal information to a lesser extent than did the TD group, indicative of a decreased multisensory gain in this population. These results are the first to compellingly demonstrate joint difficulties for both the perception and the integration of multisensory emotion expressions in persons with ASD.
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2. Frye RE, Delatorre R, Taylor HB, Slattery J, Melnyk S, Chowdhury N, James SJ. {{Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary study}}. {Transl Psychiatry};2013;3:e237.
Sapropterin, a synthetic form of tetrahydrobiopterin (BH), has been reported to improve symptoms in children with autism spectrum disorder (ASD). However, as BH is involved in multiple metabolic pathway that have been found to be dysregulated in ASD, including redox, pterin, monoamine neurotransmitter, nitric oxide (NO) and immune metabolism, the metabolic pathway by which sapropterin exerts its therapeutic effect in ASD effect remains unclear. This study investigated which metabolic pathways were associated with symptomatic improvement during sapropterin treatment. Ten participants (ages 2-6 years old) with current social and/or language delays, ASD and a central BH concentration </=30 nM l were treated with a daily morning 20 mg kg dose of sapropterin for 16 weeks in an open-label fashion. At baseline, 8 weeks and 16 weeks after starting the treatment, measures of language, social function and behavior and biomarkers of redox, pterin, monoamine neurotransmitter, NO and immune metabolism were obtained. Two participants discontinued the study, one from mild adverse effects and another due to noncompliance. Overall, improvements in subscales of the Preschool Language Scale (PLS), Vineland Adaptive Behavior Scale (VABS), Aberrant Behavior Checklist (ABC) and autism symptoms questionnaire (ASQ) were seen. Significant changes in biomarkers of pterin, redox and NO were found. Improvement on several subscales of the PLS, VABS, ABC and ASQ were moderated by baseline and changes in biomarkers of NO and pterin metabolism, particularly baseline NO metabolism. These data suggest that behavioral improvement associated with daily 20 mg kg sapropterin treatment may involve NO metabolism, particularly the status of pretreatment NO metabolism.
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3. Nagai M, Bennett PJ, Rutherford MD, Gaspar CM, Kumada T, Sekuler AB. {{Comparing face processing strategies between typically-developed observers and observers with autism using sub-sampled-pixels presentation in response classification technique}}. {Vision Res};2013 (Mar 7);79:27-35.
In the present study we modified the standard classification image method by subsampling visual stimuli to provide us with a technique capable of examining an individual’s face-processing strategy in detail with fewer trials. Experiment 1 confirmed that one testing session (1450 trials) was sufficient to produce classification images that were qualitatively similar to those obtained previously with 10,000 trials (Sekuler et al., 2004). Experiment 2 used this method to compare classification images obtained from observers with autism spectrum disorders (ASD) and typically-developing (TD) observers. As was found in Experiment 1, classification images obtained from TD observers suggested that they all discriminated faces based on information conveyed by pixels in the eyes/brow region. In contrast, classification images obtained from ASD observers suggested that they used different perceptual strategies: three out of five ASD observers used a typical strategy of making use of information in the eye/brow region, but two used an atypical strategy that relied on information in the forehead region. The advantage of using the response classification technique is that there is no restriction to specific theoretical perspectives or a priori hypotheses, which enabled us to see unexpected strategies, like ASD’s forehead strategy, and thus showed this technique is particularly useful in the examination of special populations.
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4. Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T. {{Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior}}. {Am J Med Genet A};2013 (Mar 5)
Duplications of the 2q33 region are rare; to date, only 13 patients have been reported to have this chromosomal abnormality. The reported duplications are of varying size, and the patients shared developmental delay and minor dysmorphic findings. In this study, we identified a duplication of 2q32.1-q33.3 in a patient with psychomotor developmental delay, epilepsy, and autistic behavior. The duplicated region of this patient was reciprocal to the 2q32-q33 deletion syndrome. Chromosomal microarray testing confirmed the 19.5 Mb of duplication that includes over 100 genes, some of which could have functional relevance to the neurological features of this patient. The SATB homeobox 2 gene (SATB2)-the primary gene responsible for the 2q32-q33 deletion syndrome-may be one of them, because of its expression in the cortical projection neurons of the developing brain. The duplication of the potassium channel tetramerisation domain-containing 18 gene (KCTD18) and the ADAM metallopeptidase domain 23 gene (ADAM23) may also contribute to the phenotype. FISH analysis confirmed a tandem configuration of the duplicated segments. This result is in agreement with our previous study, in which we observed that duplicated segments as interstitial duplications are generally inserted in the tandem configuration. (c) 2013 Wiley Periodicals, Inc.
