1. Bishop-Fitzpatrick L, Mazefsky CA, Minshew NJ, Eack SM. {{The Relationship Between Stress and Social Functioning in Adults With Autism Spectrum Disorder and Without Intellectual Disability}}. {Autism Res}. 2014.
Adults with autism spectrum disorder (ASD) face substantial challenges accomplishing basic tasks associated with daily living, which are exacerbated by their broad and pervasive difficulties with social interactions. These challenges put people with ASD at increased risk for psychophysiological distress, which likely factors heavily into social functioning for adults with ASD, as suggested by a growing literature on stress in children that indicates that children with ASD have differential responses to stress than healthy children. We hypothesized that adults with ASD and without intellectual disability (n = 38) would experience more stress than healthy volunteers (n = 37) and that there would be an inverse relationship between stress and social functioning in individuals with ASD. Baseline, semi-structured interview data from a randomized controlled trial of two treatments for adults with ASD were used to assess differences in stress between adults with ASD and healthy volunteers and to assess the relationship between stress response and social functioning in adults with ASD. Findings indicate that adults with ASD experience greater perceived and interviewer-observed stress than healthy volunteers and that stress is significantly related to social functioning in adults with ASD. These findings highlight the role of stress in adult functioning and outcomes and suggest the need to develop and assess treatments designed to target stress and coping in adults with ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Downs J, Wong K, Ravikumara M, Ellaway C, Elliott EJ, Christodoulou J, Jacoby P, Leonard H. {{Experience of gastrostomy using a quality care framework: the example of rett syndrome}}. {Medicine (Baltimore)}. 2014; 93(28): e328.
Rett syndrome is one of many severe neurodevelopmental disorders with feeding difficulties. In this study, associations between feeding difficulties, age, MECP2 genotype, and utilization of gastrostomy were investigated. Weight change and family satisfaction following gastrostomy were explored.Data from the longitudinal Australian Rett Syndrome Database whose parents provided data in the 2011 family questionnaire (n = 229) were interrogated. We used logistic regression to model relationships between feeding difficulties, age group, and genotype. Content analysis was used to analyze data on satisfaction following gastrostomy.In those who had never had gastrostomy and who fed orally (n = 166/229), parents of girls <7 years were more concerned about food intake compared with their adult peers (odds ratio [OR] 4.26; 95% confidence interval [CI] 1.29, 14.10). Those with a p.Arg168 mutation were often perceived as eating poorly with nearly a 6-fold increased odds of choking compared to the p.Arg133Cys mutation (OR 5.88; 95% CI 1.27, 27.24). Coughing, choking, or gagging during meals was associated with increased likelihood of later gastrostomy. Sixty-six females (28.8%) had a gastrostomy, and in those, large MECP2 deletions and p.Arg168 mutations were common. Weight-for-age z-scores increased by 0.86 (95% CI 0.41, 1.31) approximately 2 years after surgery. Families were satisfied with gastrostomy and felt less anxious about the care of their child.Mutation type provided some explanation for feeding difficulties. Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families. Our findings are likely applicable to the broader community of children with severe disability.
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3. Gliga T, Jones EJ, Johnson MH. {{Low noise in autism: Cause or consequence?}}. {Autism}. 2014.
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4. Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallieres M, Tapial J, Raj B, O’Hanlon D, Barrios-Rodiles M, Sternberg MJ, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ. {{A highly conserved program of neuronal microexons is misregulated in autistic brains}}. {Cell}. 2014; 159(7): 1511-23.
Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However, which of the myriad of detected AS events provide important biological functions is not well understood. Here, we define the largest program of functionally coordinated, neural-regulated AS described to date in mammals. Relative to all other types of AS within this program, 3-15 nucleotide « microexons » display the most striking evolutionary conservation and switch-like regulation. These microexons modulate the function of interaction domains of proteins involved in neurogenesis. Most neural microexons are regulated by the neuronal-specific splicing factor nSR100/SRRM4, through its binding to adjacent intronic enhancer motifs. Neural microexons are frequently misregulated in the brains of individuals with autism spectrum disorder, and this misregulation is associated with reduced levels of nSR100. The results thus reveal a highly conserved program of dynamic microexon regulation associated with the remodeling of protein-interaction networks during neurogenesis, the misregulation of which is linked to autism.
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5. Karten A, Hirsch J. {{Brief Report: Anomalous Neural Deactivations and Functional Connectivity During Receptive Language in Autism Spectrum Disorder: A Functional MRI Study}}. {J Autism Dev Disord}. 2014.
Neural mechanisms that underlie language disability in autism spectrum disorder (ASD) have been associated with reduced excitatory processes observed as positive blood oxygen level dependent (BOLD) responses. However, negative BOLD responses (NBR) associated with language and inhibitory processes have been less studied in ASD. In this study, functional magnetic resonance imaging showed that the NBR in ASD participants was reduced during passive listening to spoken narratives compared to control participants. Further, functional connectivity between the superior temporal gyrus and regions that exhibited a NBR during receptive language in control participants was increased in ASD participants. These findings extend models for receptive language disability in ASD to include anomalous neural deactivations and connectivity consistent with reduced or poorly modulated inhibitory processes.
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6. Lai M, Lombardo MV, Auyeung B, Chakrabarti B, Baron-Cohen S. {{Sex/Gender Differences and Autism: Setting the Scene for Future Research}}. {J Am Acad Child Adolesc Psychiatry}. 2015; 54(1): 11-24.
OBJECTIVE: The relationship between sex/gender differences and autism has attracted a variety of research ranging from clinical and neurobiological to etiological, stimulated by the male bias in autism prevalence. Findings are complex and do not always relate to each other in a straightforward manner. Distinct but interlinked questions on the relationship between sex/gender differences and autism remain underaddressed. To better understand the implications from existing research and to help design future studies, we propose a 4-level conceptual framework to clarify the embedded themes. METHOD: We searched PubMed for publications before September 2014 using search terms « ‘sex OR gender OR females’ AND autism. » A total of 1,906 articles were screened for relevance, along with publications identified via additional literature reviews, resulting in 329 articles that were reviewed. RESULTS: Level 1, « Nosological and diagnostic challenges, » concerns the question, « How should autism be defined and diagnosed in males and females? » Level 2, « Sex/gender-independent and sex/gender-dependent characteristics, » addresses the question, « What are the similarities and differences between males and females with autism? » Level 3, « General models of etiology: liability and threshold, » asks the question, « How is the liability for developing autism linked to sex/gender? » Level 4, « Specific etiological-developmental mechanisms, » focuses on the question, « What etiological-developmental mechanisms of autism are implicated by sex/gender and/or sexual/gender differentiation? » CONCLUSIONS: Using this conceptual framework, findings can be more clearly summarized, and the implications of the links between findings from different levels can become clearer. Based on this 4-level framework, we suggest future research directions, methodology, and specific topics in sex/gender differences and autism.
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7. Nishio A, Yamamoto M, Ueki H, Watanabe T, Matsuura K, Tamura O, Uehara R, Shioiri T. {{Prevalence of Mental Illness, Intellectual Disability, and Developmental Disability among Homeless People in Nagoya, Japan – A Case Series Study}}. {Psychiatry Clin Neurosci}. 2014.
AIM: While it has been reported that the prevalence of mental illness is higher in homeless people than in the national population, few studies have investigated the prevalence of intellectual and developmental disability among homeless. In this study, we conducted a survey to comprehensively assess these mental problems among homeless in Nagoya, Japan. METHODS: The subjects were 18 homeless men. Mental illness was diagnosed with semi-structured interviews conducted by psychiatrists. We used WAIS-III to diagnose intellectual disability. Discrepancies between WAIS-III subtest scores were used as criteria of developmental disability. RESULTS: Eleven of the 18 participants were diagnosed with mental illness: 6 with mood disorder, 2 with psychotic disorder, and 6 with alcohol problem. The mean IQ of all subjects was 83.4 +/- 27.4. The 95% confidence interval was 96.2-69.1. Seven participants were found to have intellectual disability. Three men showed discrepancies of more than 10 between subtest scores, and all of them were diagnosed with a mental illness. We divided the participants into four groups; those with mental illness only, those with intellectual disability only, those with both problems, and those without diagnosis. The men with intellectual disability only were significantly younger and had been homeless since a younger age than the other groups. Participants diagnosed with a mental illness had been homeless for longer than those without mental health problems. CONCLUSION: Although the sample size was limited, this study revealed the high prevalence of mental illness and intellectual disability, 61% (95%CI: 35%-83%) and 39 % (95% CI: 17%-64%), respectively, in homeless, Nagoya, Japan.
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8. Vierck E, Silverman JM. {{Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014.
Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic differences. To test this possibility we measured IQ, adaptive behavior, and autistic symptoms in 830 probands from simplex families. We conducted multiple linear regression analysis to estimate the predictive value of paternal age, maternal age, and gender on behavioral measures and IQ. We found a differential effect of parental age and sex on repetitive and restricted behaviors. Findings suggest effects of paternal age on phenotypic differences in simplex families with ASD.
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9. Wang TT, Du L, Shan L, Jia FY. {{[Research advances in immunological dysfunction in children with autism spectrum disorders]}}. {Zhongguo Dang Dai Er Ke Za Zhi}. 2014; 16(12): 1289-93.
Autism spectrum disorders (ASD) are a group of neuro-developmental disorders in early childhood which are defined by social difficulties, communication deficits and repetitive or restrictive interests and behaviours. The etiology of ASD remains poorly understood. Much research has shown that children with ASD suffer from immunological dysfunction. This article reviews the current research progress on immunological dysfunction in children with ASD, including abnormalities in immune cells, antibodies, complements, cytokines, major histocompatibility complex and their potential association with ASD, and explores the impacts of maternal immunological activation on the immune dysfunction of children with ASD.
