1. Cox A, Kohls G, Naples AJ, Mukerji CE, Coffman MC, Rutherford HJ, Mayes LC, McPartland JC. {{Diminished social reward anticipation in the broad autism phenotype as revealed by event-related brain potentials}}. {Soc Cogn Affect Neurosci};2015 (Mar 9)
Diminished responsivity to reward incentives is a key contributor to the social-communication problems seen in autism spectrum disorders (ASD). Social motivation theories suggest that individuals with ASD do not experience social interactions as rewarding, leading to negative consequences for the development of brain circuitry subserving social information. In this study, we examined neural responses to social and non-social reward anticipation in 35 typically developing young adults, examining modulation of reward sensitivity by level of autistic traits. Using an ERP incentive-delay task incorporating novel, more ecologically valid forms of reward, higher expression of autistic traits was associated with an attenuated P3 response to the anticipation of social (simulated real-time video feedback from an observer), but not non-social (candy), rewards. Exploratory analyses revealed that this was unrelated to mentalizing ability. The P3 component reflects motivated attention to reward signals, suggesting attenuated motivation allocation specific to social incentives. The study extends prior findings of atypical reward anticipation in ASD, demonstrating that attenuated social reward responsiveness extends to autistic traits in the range of typical functioning. Results support the development of innovative paradigms for investigating social and non-social reward responsiveness. Insight into vulnerabilities in reward processing is critical for understanding social function in ASD.
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2. Marr C, Leonard H, Torode I, Downs J. {{Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences}}. {Child Care Health Dev};2015 (Mar 9)
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if the scoliosis is progressive. This qualitative study investigated recovery of girls with Rett syndrome during the first 12 post-operative months and explored family perspectives and coping around the time of surgery. METHOD: Parents registered with the population-based Australian Rett Syndrome Database were recruited to this study if their daughter had a confirmed pathogenic MECP2 mutation and spinal fusion between 2006 and 2012. Twenty-five interviews were conducted to determine their daughter’s recovery and parental stresses and coping. Themes in the interview data were identified with content analysis, and the regaining of gross motor skills over the first 12 post-operative months was described with time-to-event (survival) analysis. RESULTS: Pain and energy levels, appetite, mood and coinciding health issues influenced their daughter’s post-operative recovery. The majority of girls recovered preoperative sitting (88%), standing (81%) and walking (80%) by 12 months. The decision to proceed with surgery was associated with feelings of fear, obligation, relief and guilt for families. Development of complications, poor support and feelings of isolation increased their emotional burden whereas adequate information and discharge preparation, confidence in self and staff, and balancing personal needs with their daughter’s care relieved this burden. INTERPRETATION: Our study identified clinical practice issues in relation to families whose daughter with Rett syndrome undergoes spinal fusion, issues that are also relevant to other severe disabilities. Return of wellness and gross motor skills following spinal fusion in girls with Rett syndrome occurred within the first 12 post-operative months in most cases. Parents require information and practical support to alleviate their emotional burden.
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3. McDonald D, Hornig M, Lozupone C, Debelius J, Gilbert JA, Knight R. {{Towards large-cohort comparative studies to define the factors influencing the gut microbial community structure of ASD patients}}. {Microb Ecol Health Dis};2015;26:26555.
Differences in the gut microbiota have been reported between individuals with autism spectrum disorders (ASD) and neurotypical controls, although direct evidence that changes in the microbiome contribute to causing ASD has been scarce to date. Here we summarize some considerations of experimental design that can help untangle causality in this complex system. In particular, large cross-sectional studies that can factor out important variables such as diet, prospective longitudinal studies that remove some of the influence of interpersonal variation in the microbiome (which is generally high, especially in children), and studies transferring microbial communities into germ-free mice may be especially useful. Controlling for the effects of technical variables, which have complicated efforts to combine existing studies, is critical when biological effect sizes are small. Large citizen-science studies with thousands of participants such as the American Gut Project have been effective at uncovering subtle microbiome effects in self-collected samples and with self-reported diet and behavior data, and may provide a useful complement to other types of traditionally funded and conducted studies in the case of ASD, especially in the hypothesis generation phase.
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4. Utami KH. {{The implications of de novo coding mutations in simplex autism families}}. {Clin Genet};2015 (Mar 9)
