1. de Rezende Pinto WB, Pedroso JL, de Souza PV, Oliveira AS, Barsottini OG. {{Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?}}. {J Neurol};2013 (Sep 29)
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2. Duff CK, Flattery JJ, Jr. {{Developing Mirror Self Awareness in Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Sep 29)
A teaching methodology and curriculum was designed to develop and increase positive self-awareness in students diagnosed with autism spectrum disorders (ASD). Joint attention (JA) strategies were first utilized to directly teach students about reflected mirror images, and then subsequently, to indirectly teach students about their reflected image. Not only were Mirror Self Awareness Development (MSAD) JA activities initiated and preferred by students over non MSAD JA activities, they yielded a four step framework with which to measure increases in student self-awareness. While the focus of this study was to increase positive self-awareness in students with ASD, it may contribute to understanding the developmental stages of ‘Self’.
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3. Hirota T, Veenstra-Vanderweele J, Hollander E, Kishi T. {{Antiepileptic Medications in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis}}. {J Autism Dev Disord};2013 (Sep 29)
Electroencephalogram-recorded epileptiform activity is common in children with autism spectrum disorder (ASD), even without clinical seizures. A systematic literature search identified 7 randomized, placebo-controlled trials of antiepileptic drugs (AEDs) in ASD (total n = 171), including three of valproate, and one each of lamotrigine, levetiracetam, and topiramate. Meta-analysis revealed no significant difference between medication and placebo in four studies targeting irritability/agitation and three studies investigating global improvement, although limitations include lack of power and different medications with diverse actions. Across all seven studies, there was no significant difference in discontinuation rate between two groups. AEDs do not appear to have a large effect size to treat behavioral symptoms in ASD, but further research is needed, particularly in the subgroup of patients with epileptiform abnormalities.
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4. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. {{Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism}}. {Nat Genet};2013 (Sep 29)
Prader-Willi syndrome (PWS) is caused by the absence of paternally expressed, maternally silenced genes at 15q11-q13. We report four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the PWS domain. The first subject was ascertained by whole-genome sequencing analysis for PWS features. Three additional subjects were identified by reviewing the results of exome sequencing of 1,248 cases in a clinical laboratory. All four subjects had autism spectrum disorder (ASD), intellectual disability and a varying degree of clinical and behavioral features of PWS. These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype.
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5. Walsh JA, Vida MD, Rutherford MD. {{Strategies for Perceiving Facial Expressions in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Sep 29)
Rutherford and McIntosh (J Autism Dev Disord 37:187-196, 2007) demonstrated that individuals with autism spectrum disorder (ASD) are more tolerant than controls of exaggerated schematic facial expressions, suggesting that they may use an alternative strategy when processing emotional expressions. The current study was designed to test this finding using photographs of real people. In addition, two control tasks were added to eliminate alternative explanations. We replicated the findings of Rutherford and McIntosh (J Autism Dev Disord 37:187-196, 2007) and also demonstrated that adults with ASD do not show this tolerance when evaluating how realistic the expressions are. These results suggest adults with ASD employ a rule-based strategy to a greater extent than typical adults when processing facial expressions but not when processing other aspects of faces.
