Pubmed du 12/06/14

Pubmed du jour

2014-06-12 12:03:50

1. DeVilbiss EA, Lee BK. {{Brief Report: Trends in U.S. National Autism Awareness from 2004 to 2014: The Impact of National Autism Awareness Month}}. {J Autism Dev Disord};2014 (Jun 11)
We sought to evaluate the potential for using historical web search data on autism spectrum disorders (ASD)-related topics as an indicator of ASD awareness. Analysis of Google Trend data suggested that National Autism Awareness Month and televised reports concerning autism are an effective method of promoting online search interest in autism.

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2. Gotham K, Unruh K, Lord C. {{Depression and its measurement in verbal adolescents and adults with autism spectrum disorder}}. {Autism};2014 (Jun 10)
In a sample of 50 verbally fluent adolescents and adults with autism spectrum disorders (age: 16-31 years; verbal IQ: 72-140), we examined the pattern of response and associations between scores on common measures of depressive symptoms, participant characteristics, and clinical diagnosis of depressive disorders. Beck Depression Inventory-Second Edition item descriptives in this autism spectrum disorder sample were compared to previously published data from a large typically developing sample, with results suggesting that cognitive-attributional symptoms of depression may be particularly prevalent in autism spectrum disorder. Scores on a variety of self- and parent-report depression measures were not associated with chronological age or verbal IQ, and were relatively highly correlated with each other and with clinical diagnosis of a mood disorder. The Beck Depression Inventory-Second Edition and the Adult Self-Report « Depressive » scale best identified both depressed and non-depressed participants in this sample, though neither was particularly strong. Validation studies of depression measures in the autism spectrum disorder population are necessary to advance research into this prevalent and impairing comorbidity.

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3. Gray KM, Keating CM, Taffe JR, Brereton AV, Einfeld SL, Reardon TC, Tonge BJ. {{Adult Outcomes in Autism: Community Inclusion and Living Skills}}. {J Autism Dev Disord};2014 (Jun 11)
Longitudinal research has demonstrated that social outcomes for adults with autism are restricted, particularly in terms of employment and living arrangements. However, understanding of individual and environmental factors that influence these outcomes is far from complete. This longitudinal study followed a community sample of children and adolescents with autism into adulthood. Social outcomes in relation to community inclusion and living skills were examined, including the predictive role of a range of individual factors and the environment (socio-economic disadvantage). Overall, the degree of community inclusion and living skills was restricted for the majority, and while childhood IQ was an important determinant of these outcomes, it was not the sole predictor. The implications of these findings in relation to interventions are discussed.

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4. Hartley C, Allen ML. {{Iconicity influences how effectively minimally verbal children with autism and ability-matched typically developing children use pictures as symbols in a search task}}. {Autism};2014 (Jun 10)
Previous word learning studies suggest that children with autism spectrum disorder may have difficulty understanding pictorial symbols. Here we investigate the ability of children with autism spectrum disorder and language-matched typically developing children to contextualize symbolic information communicated by pictures in a search task that did not involve word learning. Out of the participant’s view, a small toy was concealed underneath one of four unique occluders that were individuated by familiar nameable objects or unfamiliar unnamable objects. Children were shown a picture of the hiding location and then searched for the toy. Over three sessions, children completed trials with color photographs, black-and-white line drawings, and abstract color pictures. The results reveal zero group differences; neither children with autism spectrum disorder nor typically developing children were influenced by occluder familiarity, and both groups’ errorless retrieval rates were above-chance with all three picture types. However, both groups made significantly more errorless retrievals in the most-iconic photograph trials, and performance was universally predicted by receptive language. Therefore, our findings indicate that children with autism spectrum disorder and young typically developing children can contextualize pictures and use them to adaptively guide their behavior in real time and space. However, this ability is significantly influenced by receptive language development and pictorial iconicity.

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5. Jones L, Goddard L, Hill EL, Henry LA, Crane L. {{Experiences of Receiving a Diagnosis of Autism Spectrum Disorder: A Survey of Adults in the United Kingdom}}. {J Autism Dev Disord};2014 (Jun 11)
A total of 128 adults with high-functioning autism spectrum disorders were surveyed concerning the process they went through to obtain their diagnosis and the subsequent support they received. Results suggested that routes to diagnosis were quite heterogeneous and overall levels of satisfaction with the diagnostic process were mixed; 40 % of respondents were ‘very/quite’ dissatisfied, whilst 47 % were ‘very/quite’ satisfied. The extent of delays, number of professionals seen, quality of information given at diagnosis and levels of post-diagnostic support predicted overall satisfaction with the diagnostic process. Important areas and suggestions for improvement were noted for all stages of the diagnostic pathway. Respondents also displayed above average levels of depressed mood and anxiety, with greater support being requested in this area.

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6. Kana RK, Uddin LQ, Kenet T, Chugani D, Muller RA. {{Brain connectivity in autism}}. {Front Hum Neurosci};2014;8:349.

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7. Lartseva A, Dijkstra T, Kan CC, Buitelaar JK. {{Processing of Emotion Words by Patients with Autism Spectrum Disorders: Evidence from Reaction Times and EEG}}. {J Autism Dev Disord};2014 (Jun 12)
This study investigated processing of emotion words in autism spectrum disorders (ASD) using reaction times and event-related potentials (ERP). Adults with (n = 21) and without (n = 20) ASD performed a lexical decision task on emotion and neutral words while their brain activity was recorded. Both groups showed faster responses to emotion words compared to neutral, suggesting intact early processing of emotion in ASD. In the ERPs, the control group showed a typical late positive component (LPC) at 400-600 ms for emotion words compared to neutral, while the ASD group showed no LPC. The between-group difference in LPC amplitude was significant, suggesting that emotion words were processed differently by individuals with ASD, although their behavioral performance was similar to that of typical individuals.

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8. Losh M, Gordon PC. {{Quantifying Narrative Ability in Autism Spectrum Disorder: A Computational Linguistic Analysis of Narrative Coherence}}. {J Autism Dev Disord};2014 (Jun 11)
Autism is a neurodevelopmental disorder characterized by serious difficulties with the social use of language, along with impaired social functioning and ritualistic/repetitive behaviors (American Psychiatric Association in Diagnostic and statistical manual of mental disorders: DSM-5, 5th edn. American Psychiatric Association, Arlington, 2013). While substantial heterogeneity exists in symptom expression, impairments in language discourse skills, including narrative (or storytelling), are universally observed in autism (Tager-Flusberg et al. in Handbook on autism and pervasive developmental disorders, 3rd edn. Wiley, New York, pp 335-364, 2005). This study applied a computational linguistic tool, Latent Semantic Analysis (LSA), to objectively characterize narrative performance in high-functioning individuals with autism and typically-developing controls, across two different narrative contexts that differ in the interpersonal and cognitive demands placed on the narrator. Results indicated that high-functioning individuals with autism produced narratives comparable in semantic content to those produced by controls when narrating from a picture book, but produced narratives diminished in semantic quality in a more demanding narrative recall task. This pattern is similar to that detected from analyses of hand-coded picture book narratives in prior research, and extends findings to an additional narrative context that proves particularly challenging for individuals with autism. Results are discussed in terms of the utility of LSA as a quantitative, objective, and efficient measure of narrative ability.

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9. Mevel K, Fransson P, Bolte S. {{Multimodal brain imaging in autism spectrum disorder and the promise of twin research}}. {Autism};2014 (Jun 10)
Current evidence suggests the phenotype of autism spectrum disorder to be driven by a complex interaction of genetic and environmental factors impacting onto brain maturation, synaptic function, and cortical networks. However, findings are heterogeneous, and the exact neurobiological pathways of autism spectrum disorder still remain poorly understood. The co-twin control or twin-difference design is a potentially powerful tool to disentangle causal genetic and environmental contributions on neurodevelopment in autism spectrum disorder. To this end, monozygotic twins discordant for this condition provide unique means for the maximum control of potentially confounding factors. Unfortunately, only few studies of a rather narrow scope, and limited sample size, have been conducted. In an attempt to highlight the great potential of combining the brain connectome approach with monozygotic twin design, we first give an overview of the existing neurobiological evidence for autism spectrum disorder and its cognitive correlates. Then, a special focus is made onto the brain imaging findings reported within populations of monozygotic twins phenotypically discordant for autism spectrum disorder. Finally, we introduce the brain connectome model and describe an ongoing project using this approach among the largest cohort of monozygotic twins discordant for autism spectrum disorder ever recruited.

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10. Pini G, Scusa MF, Benincasa A, Bottiglioni I, Congiu L, Vadhatpour C, Romanelli AM, Gemo I, Puccetti C, McNamara R, O’Leary S, Corvin A, Gill M, Tropea D. {{Repeated insulin-like growth factor 1 treatment in a patient with rett syndrome: a single case study}}. {Front Pediatr};2014;2:52.

Rett syndrome (RTT) is a devastating neurodevelopmental disorder that has no cure. Patients show regression of acquired skills, motor, and speech impairment, cardio-respiratory distress, microcephaly, and stereotyped hand movements. The majority of RTT patients display mutations in the gene that codes for the Methyl-CpG binding protein 2 (MeCP2), which is involved in the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function are good candidates for ameliorating the symptoms of RTT. In particular, insulin-like growth factor 1 (IGF1) and its active peptide (1-3) IGF1 cross the Blood Brain Barrier, and therefore are ideal treatments for RTT Indeed, both (1-3) IGF1 and IGF1 treatment significantly ameliorates RTT symptoms in a mouse model of the disease In a previous study, we established that IGF1 is safe and well tolerated on Rett patients. In this open label clinical case study, we assess the safety and tolerability of IGF1 administration in two cycles of the treatment. Before and after each cycle, we monitored the clinical and blood parameters, autonomic function, and social and cognitive abilities, and we found that IGF1 was well tolerated each time and did not induce any side effect, nor it interfered with the other treatments that the patient was undergoing. We noticed a moderate improvement in the cognitive, social, and autonomic abilities of the patient after each cycle but the benefits were not retained between the two cycles, consistent with the pre-clinical observation that treatments for RTT should be administered through life. We find that repeated IGF1 treatment is safe and well tolerated in Rett patients but observed effects are not retained between cycles. These results have applications to other pathologies considering that IGF1 has been shown to be effective in other disorders of the autism spectrum.

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11. Sterponi L, de Kirby K, Shankey J. {{Rethinking language in autism}}. {Autism};2014 (Jun 10)
In this article, we invite a rethinking of traditional perspectives of language in autism. We advocate a theoretical reappraisal that offers a corrective to the dominant and largely tacitly held view that language, in its essence, is a referential system and a reflection of the individual’s cognition. Drawing on scholarship in Conversation Analysis and linguistic anthropology, we present a multidimensional view of language, showing how it also functions as interactional accomplishment, social action, and mode of experience. From such a multidimensional perspective, we revisit data presented by other researchers that include instances of prototypical features of autistic speech, giving them a somewhat different-at times complementary, at times alternative-interpretation. In doing so, we demonstrate that there is much at stake in the view of language that we as researchers bring to our analysis of autistic speech. Ultimately, we argue that adopting a multidimensional view of language has wide ranging implications, deepening our understanding of autism’s core features and developmental trajectory.

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12. Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero-Luis M, Vidal A, Huertas D, Esteller M. {{Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa Decarboxylase Inhibitor}}. {Neuropsychopharmacology};2014 (Jun 11)
Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in the gene coding for methyl CpG-binding protein (MeCP2). The disease is characterized by abnormal motor, respiratory, cognitive impairment, and autistic-like behaviors. No effective treatment of the disorder is available. Mecp2 knockout mice have a range of physiological and neurological abnormalities that resemble the human syndrome and can be used as a model to interrogate new therapies. Herein, we show that the combined administration of Levodopa and a Dopa decarboxylase inhibitor in Rett syndrome mouse models is well tolerated, diminishes Rett syndrome-associated symptoms and increases lifespan. The amelioration of Rett syndrome symptomatology is particularly significant in those features controlled by the dopaminergic pathway in the nigrostratium, such as mobility, tremor and breathing. Most important, the improvement of the Rett syndrome phenotype upon use of the combined treatment is reflected at the cellular level by the development of neuronal dendritic growth. However, much work is required to extend the duration of the benefit of the described preclinical treatment.Neuropsychopharmacology accepted article preview online, 11 June 2014; doi:10.1038/npp.2014.136.

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13. Zhou Y, Yu F, Duong T. {{Multiparametric MRI Characterization and Prediction in Autism Spectrum Disorder Using Graph Theory and Machine Learning}}. {PLoS One};2014;9(6):e90405.

This study employed graph theory and machine learning analysis of multiparametric MRI data to improve characterization and prediction in autism spectrum disorders (ASD). Data from 127 children with ASD (13.5+/-6.0 years) and 153 age- and gender-matched typically developing children (14.5+/-5.7 years) were selected from the multi-center Functional Connectome Project. Regional gray matter volume and cortical thickness increased, whereas white matter volume decreased in ASD compared to controls. Small-world network analysis of quantitative MRI data demonstrated decreased global efficiency based on gray matter cortical thickness but not with functional connectivity MRI (fcMRI) or volumetry. An integrative model of 22 quantitative imaging features was used for classification and prediction of phenotypic features that included the autism diagnostic observation schedule, the revised autism diagnostic interview, and intelligence quotient scores. Among the 22 imaging features, four (caudate volume, caudate-cortical functional connectivity and inferior frontal gyrus functional connectivity) were found to be highly informative, markedly improving classification and prediction accuracy when compared with the single imaging features. This approach could potentially serve as a biomarker in prognosis, diagnosis, and monitoring disease progression.

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