1. Corley MJ, Meyza KZ, Blanchard DC, Blanchard RJ. {{Reduced sulfate plasma concentrations in the BTBR T+tf/J mouse model of autism}}. {Physiol Behav};2012 (Dec 5);107(5):663-665.
Clinical studies have shown that children diagnosed with autism show abnormal sulfate chemistry, which is critical for cellular and metabolic processes. To determine if the inbred BTBR T+tf/J mouse shows autism-relevant aberrations in sulfate chemistry, the present study examined plasma sulfate concentrations in BTBR T+tf/J, inbred C57BL/6J, and outbred CD-1 mice. Results showed that the BTBR T+tf/J mouse exhibits significantly lower plasma sulfate concentrations in comparison to both C57BL/6J and CD-1 mice. These results suggest that the BTBR mouse shows autism-relevant abnormalities in sulfate chemistry and may serve additional utility in examining the role of sulfate and sulfate-dependent systems in relation to autism-relevant behavioral aberrations.
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2. Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Frank Kooy R, Hammond P. {{Craniofacial characteristics of fragile X syndrome in mouse and man}}. {Eur J Hum Genet};2012 (Dec 5)
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.European Journal of Human Genetics advance online publication, 5 December 2012; doi:10.1038/ejhg.2012.265.
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3. Keehn B, Muller RA, Townsend J. {{A typical Attentional Networks and the Emergence of Autism}}. {Neurosci Biobehav Rev};2012 (Nov 30)
The sociocommunicative impairments that define autism spectrum disorder (ASD) are not present at birth but emerge gradually over the first two years of life. In typical development, basic attentional processes may provide a critical foundation for sociocommunicative abilities. Therefore early attentional dysfunction in ASD may result in atypical development of social communication. Prior research has demonstrated that persons with ASD exhibit early and lifelong impairments in attention. The primary aim of this paper is to provide a review of the extant research on attention in ASD using a framework of functionally independent attentional networks as conceptualized by Posner and colleagues: the alerting, orienting and executive control networks (Posner and Petersen, 1990; Petersen and Posner, 2012). The neural substrates and typical development of each attentional network is briefly discussed, a review of the ASD attention literature is presented, and a hypothesis is proposed that links aberrant attentional mechanisms, specifically impaired disengagement of attention, with the emergence of core ASD symptoms.
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4. Kent JM, Kushner S, Ning X, Karcher K, Ness S, Aman M, Singh J, Hough D. {{Risperidone Dosing in Children and Adolescents with Autistic Disorder: A Double-Blind, Placebo-Controlled Study}}. {J Autism Dev Disord};2012 (Dec 5)
Efficacy and safety of 2 risperidone doses were evaluated in children and adolescents with autism. Patients (N = 96; 5-17 years), received risperidone (low-dose: 0.125 mg/day [20 to <45 kg], 0.175 mg/day [>45 kg] or high-dose: 1.25 mg/day [20 to <45 kg], 1.75 mg/day [>45 kg]) or placebo. Mean baseline (range 27-29) to endpoint change in Aberrant Behavior Checklist-Irritability (primary endpoint) was significantly greater in the high-dose-(-12.4 [6.5]; p < 0.001), but not low-dose (-7.4 [8.1]; p = 0.164) group, versus placebo (-3.5 [10.7]). Clinical Global Impressions-Severity and Children’s Yale-Brown Obsessive Compulsive Scale scores improved significantly only in the high-dose group, consistent with ABC-I results. Somnolence, sedation and increased appetite occurred more frequently in high-versus low-dose groups. Overall, increased appetite occurred most frequently.
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5. Mandell BF. {{Autism in the office}}. {Cleve Clin J Med};2012 (Dec);79(12):819.
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6. Pobbe RL, Pearson BL, Blanchard DC, Blanchard RJ. {{Oxytocin receptor and Mecp2(308/Y) knockout mice exhibit altered expression of autism-related social behaviors}}. {Physiol Behav};2012 (Dec 5);107(5):641-648.
The development of tasks measuring behaviors specific to the three major symptom categories for autism makes it possible to differentiate mouse models of autism spectrum disorders (ASD) in terms of changes in these specific categories. Prior studies indicate that BTBR T+tf/J mice, the strain that has been evaluated most extensively, show autism-relevant changes in all three symptom categories; reciprocal social interactions; communication; and repetitive, ritualized behaviors. This report reviews the behaviors of oxytocin receptor (Oxtr) and Mecp2(308/Y) wild-type (WT) and knockout (KO) mice, in a number of tests specifically designed to provide information on behaviors that may show functional parallels to the core symptoms of ASD. Oxtr KO mice show robust decreases in reciprocal social interactions, and reduced levels of communication, but no changes in repetitive, ritualized behaviors; whereas Mecp2(308/Y) KO mice show a slight but consistent enhancement of social behavior and communication, and no changes in repetitive, ritualized behaviors. This data base, although small, strongly indicates that mouse models can sort the diagnostic symptoms of autism, and suggests that biological and physiological analyses of these strains may be capable of providing differential information on the brain systems involved in particular symptoms of this disorder. Profiles of behavioral changes in other mouse models of ASD should provide additional specificity in the search for biomarkers associated with particular ASD symptoms and symptom clusters.
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7. Post M, Haymes L, Storey K, Loughrey T, Campbell C. {{Understanding Stalking Behaviors by Individuals with Autism Spectrum Disorders and Recommended Prevention Strategies for School Settings}}. {J Autism Dev Disord};2012 (Dec 4)
Stalking behavior among some students with Autism Spectrum Disorders (ASDs) is of concern both for the individual being stalked as well as the student with ASDs. This manuscript reviews effective interventions based upon functional assessment and appropriate positive behavior supports. Specific interventions for addressing staking behavior by students with ASDs are analyzed and evaluated with suggestions for best practice for instructional procedures. Interventions covered are social skills groups, video modeling, self-management, video feedback, rule governed behavior, scripts, visual supports, counseling, psychopharmacology and reducing the amount of isolating interests and activities while increasing more opportunities for integration. Recommendations for future research are discussed.
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8. Prayson B, Franco K. {{Is an adult with Asperger syndrome sitting in your waiting room?}}. {Cleve Clin J Med};2012 (Dec);79(12):875-882.
The prevalence of Asperger syndrome, a mild form of autism, appears to be rapidly increasing. This developmental disorder affects children and adults and can present challenges to providing medical care. In this update on Asperger syndrome, we offer guidance on how to interact with adult patients with the disorder. We also address proposed diagnostic changes scheduled to take effect in 2013.
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9. Shane HC. {{Appreciating Asperger syndrome: Implications for better care and outcomes}}. {Cleve Clin J Med};2012 (Dec);79(12):872-874.
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10. Spencer MD, Chura LR, Holt RJ, Suckling J, Calder AJ, Bullmore ET, Baron-Cohen S. {{Failure to deactivate the default mode network indicates a possible endophenotype of autism}}. {Mol Autism};2012 (Dec 3);3(1):15.
ABSTRACT: BACKGROUND: Reduced activity during cognitively demanding tasks has been reported in the default mode network in typically developing controls and individuals with autism. However, no study has investigated the default mode network (DMN) in first-degree relatives of those with autism (such as siblings) and it is not known whether atypical activation of the DMN is specific to autism or whether it is also present in unaffected relatives. Here we use functional magnetic resonance imaging to investigate the pattern of task-related deactivation during completion of a visual search task, the Embedded Figures Task, in teenagers with autism, their unaffected siblings and typically developing controls. FINDINGS: We identified striking reductions in deactivation during the Embedded Figures Task in unaffected siblings compared to controls in brain regions corresponding to the default mode network. Adolescents with autism and their unaffected siblings similarly failed to deactivate regions, including posterior cingulate and bilateral inferior parietal cortex. CONCLUSIONS: This suggests that a failure to deactivate these regions is a functional endophenotype of autism, related to familial risk for the condition shared between individuals with autism and their siblings.
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11. van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. {{Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach}}. {Dev Med Child Neurol};2012 (Dec 4)
Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. Method The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood-onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype. Results A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21y, range 4-63y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9y, range 4-22y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism. Interpretation Our data show that in TSC and childhood-onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions.
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12. Wang SY, Parrila R, Cui Y. {{Meta-Analysis of Social Skills Interventions of Single-Case Research for Individuals with Autism Spectrum Disorders: Results from Three-Level HLM}}. {J Autism Dev Disord};2012 (Dec 5)
This meta-analysis used hierarchical linear modeling to examine 115 single-case studies with 343 participants that examined the effectiveness of social skills interventions for individuals with autism spectrum disorder (ASD). The average effect size of the included studies was 1.40 (SD = 0.43, 95 % CL = 1.32-1.48, N = 115). In the further, several common predictors including intervention length, age and gender of the participants, and study quality indicators (provision of sufficient, in-depth, and replicable information of participants, settings/materials, independent variables, and dependent variables) were not found to mediate the intervention effectiveness. Only research design that the study employed was found to impact the intervention effectiveness; the studies using multiple baseline or reversal design had larger effect sizes than studies using other designs. Implications of the results and limitations of this study are discussed.
