1. Anderson C, Butt C. {{Young Adults on the Autism Spectrum at College: Successes and Stumbling Blocks}}. {J Autism Dev Disord};2017 (Jul 11)
There is limited information on outcomes for young adults with autism spectrum disorder (ASD), including achievement at college. Qualitative interviews were conducted with 18 families reporting a degree-seeking college experience for their young adult with ASD. Interview transcripts were analyzed using a grounded theory approach. Four themes surrounding success and failure at college emerged. Preparation Beyond Academics involved challenges associated with ASD, such as social, executive functioning, and mental health issues, and to what extent these had been addressed prior to leaving high school. Student/College Fit related to whether a student’s capabilities were matched to college location, size, and culture, while Campus Supports and Family Supports concerned assistance provided by colleges and families, respectively. Implications for future practice are discussed.
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2. Liang JS, Lin LJ, Yang MT, Wang JS, Lu JF. {{The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features}}. {Brain Dev};2017 (Jul 11)
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the alphaII-subunit of the voltage-gated Na+ channel (Nav1.2). The identified SCN2A mutation responsible for the development of the disease is confirmed to be de novo for the proband. Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. In addition, the use of levetiracetam to treat SCN2A epileptic encephalopathy, when Na+ channel-blocking anticonvulsants are ineffective, is also recommended.
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3. Mosner MG, Kinard JL, McWeeny S, Shah JS, Markiewitz ND, Damiano-Goodwin CR, Burchinal MR, Rutherford HJV, Greene RK, Treadway MT, Dichter GS. {{Vicarious Effort-Based Decision-Making in Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Jul 11)
This study investigated vicarious effort-based decision-making in 50 adolescents with autism spectrum disorders (ASD) compared to 32 controls using the Effort Expenditure for Rewards Task. Participants made choices to win money for themselves or for another person. When choosing for themselves, the ASD group exhibited relatively similar patterns of effort-based decision-making across reward parameters. However, when choosing for another person, the ASD group demonstrated relatively decreased sensitivity to reward magnitude, particularly in the high magnitude condition. Finally, patterns of responding in the ASD group were related to individual differences in consummatory pleasure capacity. These findings indicate atypical vicarious effort-based decision-making in ASD and more broadly add to the growing body of literature addressing social reward processing deficits in ASD.
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4. Nuske HJ, Hedley D, Woollacott A, Thomson P, Macari S, Dissanayake C. {{Developmental delays in emotion regulation strategies in preschoolers with autism}}. {Autism Res};2017 (Jul 11)
Children with autism spectrum disorder (ASD) commonly present with difficulty regulating negative emotions, which has been found to impact their behavioral and mental health. Little research has documented the strategies that children with ASD use to regulate their emotion to understand whether they use qualitatively different strategies to children without ASD, whether these are developmentally delayed, or both. Forty-four children with ASD and 29 typically-developing children (2-4 years) were given tasks designed to mimic everyday life experiences requiring children to manage low-level stress (e.g., waiting for a snack) and children’s emotion regulation strategies were coded. Parents reported on their child’s mental health, wellbeing, and self-development. The results suggest differences in using emotion regulation strategies in children with ASD, reflecting a delay, rather than a deviance when compared to those used by children without ASD. Only children with ASD relied on their family members for physical and communicative soothing; the typically developing children relied on people outside of their family for help regulating their emotion. More frequent approach/less frequent avoidance was related to a higher self-evaluation in both groups, but was only additionally related to higher self-recognition and autonomy in the ASD group. These findings help to identify important emotion regulation intervention targets for this population, including supporting communication with people outside of the family and independence. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
