1. Aldaqre I, Paulus M, Sodian B. {{Referential gaze and word learning in adults with autism}}. {Autism}. 2014.
While typically developing children can use referential gaze to guide their word learning, those with autism spectrum disorder are often described to have problems with that. However, some researchers assume that the ability to follow gaze to select the correct referent can develop in autism later compared to typically developing individuals. To test this assumption, we compared the performance of adults with and without autism on a word learning task while recording their gaze behavior using an eye tracker. Results showed that both groups mostly chose the correct referent, but less so for the autism spectrum disorder group when the distractor’s saliency was increased, suggesting that the ability to learn novel words by referring to gaze develops in autism spectrum disorder, but not fully, relative to their typically developing peers.
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2. Chanson JB, Boehm N, Samama B, Echaniz-Laguna A, Anheim M. {{Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS)}}. {J Neurol}. 2014.
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3. Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE. {{Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism}}. {Nat Commun}. 2014; 5: 5748.
Recent studies of genomic variation associated with autism have suggested the existence of extreme heterogeneity. Large-scale transcriptomics should complement these results to identify core molecular pathways underlying autism. Here we report results from a large-scale RNA sequencing effort, utilizing region-matched autism and control brains to identify neuronal and microglial genes robustly dysregulated in autism cortical brain. Remarkably, we note that a gene expression module corresponding to M2-activation states in microglia is negatively correlated with a differentially expressed neuronal module, implicating dysregulated microglial responses in concert with altered neuronal activity-dependent genes in autism brains. These observations provide pathways and candidate genes that highlight the interplay between innate immunity and neuronal activity in the aetiology of autism.
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4. Khowaja MK, Hazzard AP, Robins DL. {{Sociodemographic Barriers to Early Detection of Autism: Screening and Evaluation Using the M-CHAT, M-CHAT-R, and Follow-Up}}. {J Autism Dev Disord}. 2014.
Parents (n = 11,845) completed the Modified Checklist for Autism in Toddlers (or its latest revision) at pediatric visits. Using sociodemographic predictors of maternal education and race, binary logistic regressions were utilized to examine differences in autism screening, diagnostic evaluation participation rates and outcomes, and reasons for non-participation. Families of lower maternal education and racial minorities exhibited inflated initial screen positive rates and lower participation at Follow-Up, although not at the evaluation. Economic challenges, such as invalid phone numbers, were identified as barriers to reaching these families. Families of higher education and White race were more likely to decline participation in evaluation. Results suggest the need for increased public education about childhood development to enhance awareness, reduce stigma, and streamline screening.
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5. Norrelgen F, Fernell E, Eriksson M, Hedvall A, Persson C, Sjolin M, Gillberg C, Kjellmer L. {{Children with autism spectrum disorders who do not develop phrase speech in the preschool years}}. {Autism}. 2014.
There is uncertainty about the proportion of children with autism spectrum disorders who do not develop phrase speech during the preschool years. The main purpose of this study was to examine this ratio in a population-based community sample of children. The cohort consisted of 165 children (141 boys, 24 girls) with autism spectrum disorders aged 4-6 years followed longitudinally over 2 years during which time they had received intervention at a specialized autism center. In this study, data collected at the 2-year follow-up were used. Three categories of expressive language were defined: nonverbal, minimally verbal, and phrase speech. Data from the Vineland Adaptive Behavior Scales-II were used to classify expressive language. A secondary objective of the study was to analyze factors that might be linked to verbal ability, namely, child age, cognitive level, autism subtype and severity of core autism symptoms, developmental regression, epilepsy or other medical conditions, and intensity of intervention. The proportion of children who met the criteria for nonverbal, minimally verbal, and phrase speech were 15%, 10%, and 75%, respectively. The single most important factor linked to expressive language was the child’s cognitive level, and all children classified as being nonverbal or minimally verbal had intellectual disability.
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6. Scharf SH, Jaeschke G, Wettstein JG, Lindemann L. {{Metabotropic glutamate receptor 5 as drug target for Fragile X syndrome}}. {Curr Opin Pharmacol}. 2014.
Fragile X syndrome (FXS) is the most common monogenic form of inherited mental retardation caused by a trinucleotid repeat expansion and transcriptional shutdown of the FMR1 gene. FXS patients present a complex and often severe neuropsychiatric phenotype yet have mild somatic symptoms, normal life expectancies, and no indications of neurodegeneration. The therapeutic potential of mGlu5 inhibitors was proposed in the ‘mGluR theory of FXS’ based on early insights into the molecular pathophysiology of FXS. Studies in Fragile X mental retardation 1 (Fmr1) knock-out mice, a widely used disease model, demonstrated that mGlu5 inhibitors can correct a broad range of disease-related phenotypes. Recent clinical trials, however, with two different mGlu5 inhibitors (basimglurant and mavoglurant) showed no therapeutic benefit in FXS patients for reasons as yet unclear.
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7. Schuch JB, Muller D, Endres RG, Bosa CA, Longo D, Schuler-Faccini L, Ranzan J, Becker MM, Dos Santos Riesgo R, Roman T. {{The role of beta3 integrin gene variants in Autism Spectrum Disorders – Diagnosis and symptomatology}}. {Gene}. 2014; 553(1): 24-30.
Autism Spectrum Disorders (ASDs) represent a group of very complex early-onset neurodevelopmental diseases. In this study, we analyzed 5 SNPs (rs2317385, rs5918, rs15908, rs12603582, rs3809865) at the beta3 integrin locus (ITGB3), which has been suggested as a possible susceptibility gene, both as single markers and as part of haplotypes in 209 ASD children and their biological parents. We tested for association with the following: a) DSM-IV ASD diagnosis; b) clinical symptoms common in ASD patients (repetitive behaviors, echolalia, seizures and epilepsy, mood instability, aggression, psychomotor agitation, sleep disorders); and c) dimensional scores obtained with the Autism Screening Questionnaire and the Childhood Autism Rating Scale. These hypotheses were investigated using family-based tests, logistic regression models and analysis of covariance. The family-based tests showed an association with the H5 haplotype (composed by GTCGA alleles, the order of SNPs as above), which was transmitted less often than expected by chance (P=0.006; Pcorr=0.036). The analyses of the clinical symptoms showed a trend for an association with rs12603582 (P=0.008; Pcorr=0.064) and positive results for the haplotype composed of rs15908 and rs12603582 (Pglcorr=0.048; Pindcorr=0.015), both in symptoms of echolalia. Other nominal associations with different variants were found and involved epilepsy/seizures, aggression symptoms and higher ASQ scores. Although our positive results are not definitive, they suggest small effect associations of the ITGB3 gene with both ASD diagnosis and symptoms of echolalia. Other studies are nonetheless needed to fully understand the involvement of this locus on the etiology of ASDs and its different clinical aspects.
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8. Simmons D, Milne E. {{Response to Davis and Plaisted-Grant: Low or high endogenous neural noise in autism spectrum disorder?}}. {Autism}. 2014.
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9. So WC, Wong MK, Lui M, Yip V. {{The development of co-speech gesture and its semantic integration with speech in 6- to 12-year-old children with autism spectrum disorders}}. {Autism}. 2014.
Previous work leaves open the question of whether children with autism spectrum disorders aged 6-12 years have delay in producing gestures compared to their typically developing peers. This study examined gestural production among school-aged children in a naturalistic context and how their gestures are semantically related to the accompanying speech. Delay in gestural production was found in children with autism spectrum disorders through their middle to late childhood. Compared to their typically developing counterparts, children with autism spectrum disorders gestured less often and used fewer types of gestures, in particular markers, which carry culture-specific meaning. Typically developing children’s gestural production was related to language and cognitive skills, but among children with autism spectrum disorders, gestural production was more strongly related to the severity of socio-communicative impairment. Gesture impairment also included the failure to integrate speech with gesture: in particular, supplementary gestures are absent in children with autism spectrum disorders. The findings extend our understanding of gestural production in school-aged children with autism spectrum disorders during spontaneous interaction. The results can help guide new therapies for gestural production for children with autism spectrum disorders in middle and late childhood.
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10. Waite J, Moss J, Beck SR, Richards C, Nelson L, Arron K, Burbidge C, Berg K, Oliver C. {{Repetitive Behavior in Rubinstein-Taybi Syndrome: Parallels with Autism Spectrum Phenomenology}}. {J Autism Dev Disord}. 2014.
Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS.
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11. Whyte EM, Smyth JM, Scherf KS. {{Designing Serious Game Interventions for Individuals with Autism}}. {J Autism Dev Disord}. 2014.
The design of « Serious games » that use game components (e.g., storyline, long-term goals, rewards) to create engaging learning experiences has increased in recent years. We examine of the core principles of serious game design and examine the current use of these principles in computer-based interventions for individuals with autism. Participants who undergo these computer-based interventions often show little evidence of the ability to generalize such learning to novel, everyday social communicative interactions. This lack of generalized learning may result, in part, from the limited use of fundamental elements of serious game design that are known to maximize learning. We suggest that future computer-based interventions should consider the full range of serious game design principles that promote generalization of learning.
