1. {{Correction: Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders}}. {PLoS One};2014;9(6):e100607.
[This corrects the article DOI: 10.1371/journal.pone.0088600.].
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2. Angus DJ, de Rosnay M, Lunenburg P, Meerum Terwogt M, Begeer S. {{Limitations in social anticipation are independent of imaginative and Theory of Mind abilities in children with autism but not in typically developing children}}. {Autism};2014 (Jun 12)
Anticipating future interactions is characteristic of our everyday social experiences, yet has received limited empirical attention. Little is known about how children with autism spectrum disorder, known for their limitations in social interactive skills, engage in social anticipation. We asked children with autism spectrum disorder and their typically developing counterparts to consider an interaction with another person in the near future. Our results suggest that children with autism spectrum disorder and typically developing children performed similarly when anticipating the age, gender, and possible questions of another person, but children with autism spectrum disorder struggled more to anticipate what they would say in response to an anticipated interaction. Furthermore, such responses were robustly associated with imaginative capacities in typically developing children but not children with autism spectrum disorder. Our findings suggest that the cognitive mechanisms of social anticipation may differ between these groups.
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3. Baxter P. {{Valproate and folic acid in pregnancy: associations with autism}}. {Dev Med Child Neurol};2014 (Jul);56(7):604.
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4. Cantwell J, Muldoon OT, Gallagher S. {{Social support and mastery influence the association between stress and poor physical health in parents caring for children with developmental disabilities}}. {Res Dev Disabil};2014 (Jun 10);35(9):2215-2223.
To date, much of the research linking the stress of caring for children with developmental disabilities (e.g. Autism & Down syndrome) with parental health outcomes have tended to concentrate on mental health with less attention paid to the physical health consequences. Thus, this study sought to explore the psychosocial predictors of poor physical health in these caring parents. One hundred and sixty-seven parents (109 caregivers and 58 control parents) completed measures of stress, child problem behaviours, social support, mastery and physical health. Parents of children with developmental disabilities had poorer physical health compared to control parents. Stress and mastery, but not social support and problem behaviours, were significant predictors of poor physical health within caring parents for children with developmental disabilities. However, the association between mastery and physical health was mediated by perceived stress such that those parents who were higher on mastery reported less stress and better physical health; furthermore, the association between stress and physical health was moderated by social support; those parents high on social support and low in stress had better physical health. These results indicate that the paths between psychosocial factors and poor physical health in the caring parents are working synergistically rather than in isolation. They also underscore the importance of providing multi-component interventions that offer a variety of psychosocial resources to meet the precise needs of the parents.
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5. Careaga M, Schwartzer J, Ashwood P. {{Inflammatory profiles in the BTBR mouse: How relevant are they to Autism Spectrum Disorders?}}. {Brain Behav Immun};2014 (Jun 14)
Autism spectrum disorders (ASD) are a group of disorders characterized by core behavioral features including stereotyped interests, repetitive behaviors and impairments in communication and social interaction. In addition, widespread changes in the immune systems of individuals with ASD have been identified, in particular increased evidence of inflammation in the periphery and central nervous system. While the etiology of these disorders remains unclear, it appears that multiple gene and environmental factors are involved. The need for animal models paralleling the behavioral and immunological features of ASD is paramount to better understand the link between immune system dysregulation and behavioral deficits observed in these disorders. As such, the asocial BTBR mouse strain displays both ASD relevant behaviors and persistent immune dysregulation, providing a model system that has and continues to be instructive in understanding the complex nature of ASD.
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6. Chong WW, Lo IF, Lam ST, Wang CC, Luk HM, Leung TY, Choy KW. {{Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort}}. {Mol Cytogenet};2014;7:34.
BACKGROUND: Chromosomal microarray (CMA) is currently the first-tier genetic test for patients with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield over karyotyping and other molecular testing facilitates the identification of the underlying causes of neuropsychiatric diseases. In this study, we applied oligonucleotide array comparative genomic hybridization as the molecular genetic test in a Chinese cohort of children with DD/ID, autism or MCA. RESULTS: CMA identified 7 clinically significant microduplications and 17 microdeletions in 19.0% (20/105) patients, with size of aberrant regions ranging from 11 kb to 10.7 Mb. Fourteen of the pathogenic copy number variant (CNV) detected corresponded to well known microdeletion or microduplication syndromes. Four overlapped with critical regions of recently identified genomic syndromes. We also identified a rare de novo 2.3 Mb deletion at 8p21.3-21.2 as a pathogenic submicroscopic CNV. We also identified two novel CNVs, one at Xq28 and the other at 12q21.31-q21.33, in two patients (1.9%) with unclear clinical significance. Overall, the detection rate of CMA is comparable to figures previously reported for accurately detect submicroscopic chromosomal imbalances and pathogenic CNVs except mosaicism, balanced translocation and inversion. CONCLUSIONS: This study provided further evidence of an increased diagnostic yield of CMA and supported its use as a first line diagnostic tool for Chinese individuals with DD/ID, ASD, and MCA.
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7. Daly BP, Nicholls EG, Patrick KE, Brinckman DD, Schultheis MT. {{Driving Behaviors in Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Jun 13)
This pilot study investigated driving history and driving behaviors between adults diagnosed with autism spectrum disorders (ASD) as compared to non-ASD adult drivers. Seventy-eight licensed drivers with ASD and 94 non-ASD comparison participants completed the Driver Behavior Questionnaire. Drivers with ASD endorsed significantly lower ratings of their ability to drive, and higher numbers of traffic accidents and citations relative to non-ASD drivers. Drivers with ASD also endorsed significantly greater numbers of difficulties on the following subscales: intentional violations, F(1, 162) = 6.15, p = .01, eta p 2 = .04; mistakes, F(1, 162) = 10.15, p = .002, eta p 2 = .06; and slips/lapses, F(1, 162) = 11.33, p = .001, eta p 2 = .07. These findings suggest that individuals with ASD who are current drivers may experience more difficulties in driving behaviors and engage in more problematic driving behaviors relative to non-ASD drivers.
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8. Grossman RB. {{Judgments of social awkwardness from brief exposure to children with and without high-functioning autism}}. {Autism};2014 (Jun 12)
We form first impressions of many traits based on very short interactions. This study examines whether typical adults judge children with high-functioning autism to be more socially awkward than their typically developing peers based on very brief exposure to still images, audio-visual, video-only, or audio-only information. We used video and audio recordings of children with and without high-functioning autism captured during a story-retelling task. Typically developing adults were presented with 1 s and 3 s clips of these children, as well as still images, and asked to judge whether the person in the clip was socially awkward. Our findings show that participants who are naive to diagnostic differences between the children in the clips judged children with high-functioning autism to be socially awkward at a significantly higher rate than their typically developing peers. These results remain consistent for exposures as short as 1 s to visual and/or auditory information, as well as for still images. These data suggest that typical adults use subtle nonverbal and non-linguistic cues produced by children with high-functioning autism to form rapid judgments of social awkwardness with the potential for significant repercussions in social interactions.
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9. Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J, Glessner J, Hakonarson H. {{The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism}}. {Nat Commun};2014;5:4074.
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P</=2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P</=3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P</=4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions.
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10. Kocovska E, Andorsdottir G, Weihe P, Halling J, Fernell E, Stora T, Biskupsto R, Gillberg IC, Shea R, Billstedt E, Bourgeron T, Minnis H, Gillberg C. {{Vitamin D in the General Population of Young Adults with Autism in the Faroe Islands}}. {J Autism Dev Disord};2014 (Jun 14)
Vitamin D deficiency has been proposed as a possible risk factor for developing autism spectrum disorder (ASD). 25-Hydroxyvitamin D3 (25(OH)D3) levels were examined in a cross-sectional population-based study in the Faroe Islands. The case group consisting of a total population cohort of 40 individuals with ASD (aged 15-24 years) had significantly lower 25(OH)D3 than their 62 typically-developing siblings and their 77 parents, and also significantly lower than 40 healthy age and gender matched comparisons. There was a trend for males having lower 25(OH)D3 than females. Effects of age, month/season of birth, IQ, various subcategories of ASD and Autism Diagnostic Observation Schedule score were also investigated, however, no association was found. The very low 25(OH)D3 in the ASD group suggests some underlying pathogenic mechanism.
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11. Selles RR, Arnold EB, Phares V, Lewin AB, Murphy TK, Storch EA. {{Cognitive-behavioral therapy for anxiety in youth with an autism spectrum disorder: A follow-up study}}. {Autism};2014 (Jun 12)
Cognitive-behavioral therapy for anxiety in youth with an autism spectrum disorder appears efficacious; however, maintenance of treatment gains has not yet been studied. Using a sample of 32 youth who had benefited at least minimally from a past trial of cognitive-behavioral therapy for anxiety in autism spectrum disorder, this study assessed anxiety symptoms in youth 10-26 months following treatment completion. Compared to baseline, follow-up scores were associated with large effects for treatment. Relative to post-treatment, a small effect for return in symptoms was present and significantly fewer individuals were rated as responders at follow-up. Future studies should investigate factors associated with poor treatment maintenance and modifications or additions to treatment that may help maintain treatment gains..
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12. Shih W, Patterson SY, Kasari C. {{Developing an Adaptive Treatment Strategy for Peer-Related Social Skills for Children With Autism Spectrum Disorders}}. {J Clin Child Adolesc Psychol};2014 (Jun 13):1-11.
The purpose of this study was to understand the trajectories of children’s response to an intervention prior to the end of the treatment in order to inform adaptive treatment models for future studies. Participants with autism spectrum disorder (ASD) were drawn from a randomized controlled trial comparing 2 different social skills interventions at children’s schools. We excluded children with ASD who entered the study with at least 80% time engaged (the average time of neurotypical children in the same classes) in order to examine only those who were engaged below the typical developing peers’ average percentage of time engaged. The final sample included 92 children with ASD (82% male, average age = 8.14 years, average IQ = 89.6). We explored whether playground engagement scores measured at entry and midpoint of treatment predicted their engagement scores at end of treatment using the Classification and Regression Tree (CART) method. Using the CART approach, 4 meaningful subgroups based on children’s playground engagement scores measured at entry and changes from entry to midpoint were identified. These data suggest that measurements of children’s behavior midstudy can be used to predict children’s treatment outcomes. Such data may be used to inform decisions to augment or alter programming prior to treatment end in order to tailor intervention to best meet the needs of individual children.
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13. Siegel M, Milligan B, Chemelski B, Payne D, Ellsworth B, Harmon J, Teer O, Smith KA. {{Specialized Inpatient Psychiatry for Serious Behavioral Disturbance in Autism and Intellectual Disability}}. {J Autism Dev Disord};2014 (Jun 13)
Psychiatric hospitalization of children with autism spectrum disorder and/or intellectual disability is common, however, the effectiveness of this intervention is largely unknown. Thirty-eight clinically-referred children 8-19 years old admitted to a specialized inpatient psychiatry unit were assessed by a consistent caregiver on the Aberrant Behavior Checklist-Irritability (ABC-I) subscale at admission, discharge and 2 months post discharge. There was a decrease in the mean ABC-I score from admission (27.3, SD 7.4) to discharge (11.9, SD 8.8), which was sustained at 2 months post discharge (14.8, SD 9.3) (p < 0.001). Seventy-eight percent of the subjects were rated as « Improved » on the clinician Clinical Global Impressions Improvement scale at discharge. The study is limited by lack of a control group, but offers preliminary evidence for specialized inpatient psychiatry as an intervention for serious behavioral disturbance in this population.
