Pubmed du 03/06/19

mardi 4 juin 2019

1. Bergmann T, Heinrich M, Ziegler M, Dziobek I, Diefenbacher A, Sappok T. Developing a Diagnostic Algorithm for the Music-Based Scale for Autism Diagnostics (MUSAD) Assessing Adults with Intellectual Disability. J Autism Dev Disord ;2019 (Jun 3)

Initial studies have presented the Music-based Scale for Autism Diagnostics (MUSAD) as a promising DSM-5-based observational tool to identify autism spectrum disorder (ASD) in adults with intellectual disability (ID). The current study is the first to address its clinical utility in a new sample of 124 adults with ID (60.5% diagnosed with ASD). The derived diagnostic algorithm differentiated well between individuals with and without ASD (sensitivity 79%, specificity 74%, area under the curve = 0.81). Inter-rater reliability, assessed by the scorings of four independent experts in 22 consensus cases, was excellent (ICC = 0.92). Substantial correlations with scores from other ASD-specific measures indicated convergent validity. The MUSAD yields accurate and reliable scores, supporting comprehensive ASD diagnostics in adults with ID.

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2. Chiodo L, Mottron L, Majerus S. Preservation of categorical perception for speech in autism with and without speech onset delay. Autism Res ;2019 (Jun 3)

Recent accounts of autistic perception, including Bayesian accounts, hypothesize a reduced influence of prior knowledge on perception across different domains in the autism spectrum (AS). The purpose of this study was to investigate the influence of prior linguistic knowledge, in the form of phonemic categorical knowledge, on speech perception in adults with AS condition. As phonemic categorical knowledge is shaped by language experience and abilities, we furthermore distinguished AS participants with (AS-SOD) or without a history of speech onset delay (AS-noSOD) ; the control group comprises typical individuals matched for age, nonverbal intelligence, and reading abilities. We also controlled for the influence of auditory-verbal short-term retention capacities by administering word list and nonword list repetition tasks. We did not observe any reduced influence of prior phonemic knowledge on the perception of speech stimuli nor did we observed any increased perceptual abilities for atypical variants of speech stimuli or nonspeech auditory stimuli, either between the two autistic groups or relative to the control group. Short-term memory abilities appeared to be superior in the AS-noSOD group relative to the AS-SOD and control groups, but this strength could be accounted for by their higher vocabulary knowledge. The preservation of categorical perception in verbal autistic adults observed in this study challenges models claiming a reduced influence of prior knowledge on perception across domains in the AS. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : A reduced influence of prior knowledge has been considered to characterize perceptual abilities in people with autism. In this article, we examine this claim by assessing nonlinguistic and linguistic auditory perception abilities in adults with autism, and by further distinguishing between autism with or without a history of delayed language development. We did not observe any reduced influence of prior language knowledge on the perception of speech stimuli nor did we observe any increased perceptual abilities for atypical variants of speech stimuli or nonspeech auditory stimuli, and this relative to a control group matched on age, nonverbal intellectual efficiency, and reading abilities. Our results challenge models claiming a reduced influence of prior knowledge on perception across domains in the AS.

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3. De Meo-Monteil R, Nordahl CW, Amaral DG, Rogers SJ, Harootonian SK, Martin J, Rivera SM, Saron CD. Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly. Autism Res ;2019 (Jun 3)

Autism spectrum disorder (ASD), characterized by impairments in social communication and repetitive behaviors, often includes altered responses to sensory inputs as part of its phenotype. The neurobiological basis for altered sensory processing is not well understood. The UC Davis Medical Investigation of Neurodevelopmental Disorders Institute Autism Phenome Project is a longitudinal, multidisciplinary study of young children with ASD and age-matched typically developing (TD) controls. Previous analyses of the magnetic resonance imaging data from this cohort have shown that approximately 15% of boys with ASD have disproportionate megalencephaly (DM) or brain size to height ratio, that is 1.5 standard deviations above the TD mean. Here, we investigated electrophysiological responses to auditory stimuli of increasing intensity (50-80 dB) in young toddlers (27-48 months old). Analyses included data from 36 age-matched boys, of which 24 were diagnosed with ASD (12 with and 12 without DM ; ASD-DM and ASD-N) and 12 TD controls. We found that the two ASD subgroups differed in their electrophysiological response patterns to sounds of increasing intensity. At early latencies (55-115 ms), ASD-N does not show a loudness-dependent response like TD and ASD-DM, but tends to group intensities by soft vs. loud sounds, suggesting differences in sensory sensitivity in this group. At later latencies (145-195 ms), only the ASD-DM group shows significantly higher amplitudes for loud sounds. Because no similar effects were found in ASD-N and TD groups, this may be related to their altered neuroanatomy. These results contribute to the effort to delineate ASD subgroups and further characterize physiological responses associated with observable phenotypes. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Approximately 15% of boys with ASD have much bigger brains when compared to individuals with typical development. By recording brain waves (electroencephalography) we compared how autistic children, with or without big brains, react to sounds compared to typically developing controls. We found that brain responses in the big-brained group are different from the two other groups, suggesting that they represent a specific autism subgroup.

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4. Park JH, Jang W, Youn J, Ki CS, Kim BJ, Kim HT, Louis ED, Cho JW. Prevalence of fragile X-associated tremor/ataxia syndrome : A survey of essential tremor patients with cerebellar signs or extrapyramidal signs. Brain Behav ;2019 (Jun 3):e01337.

OBJECTIVES : In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS. MATERIALS AND METHODS : From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, FMR1 mutation analysis and brain magnetic resonance imaging were performed. RESULTS : Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. FMR1 CGG repeat analysis was performed in 74 of 168 patients. Fifty-two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a FMR1 premutation and fulfiled both clinical and radiological criteria of FXTAS. CONCLUSIONS : Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS.

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5. Richling SM, Williams WL, Carr JE. The effects of different mastery criteria on the skill maintenance of children with developmental disabilities. J Appl Behav Anal ;2019 (Jun 3)

The acquisition of skills by individuals with developmental disabilities typically includes the attainment of a certain mastery criterion. We conducted a survey of practitioners who indicated the most commonly used mastery criterion as 80% accuracy across three consecutive sessions. Based on these results, we conducted a series of three experiments to evaluate the relation between mastery criterion and subsequent skill maintenance with 4 individuals with various developmental disabilities. Results suggest that 80% accuracy across three consecutive sessions may be insufficient for producing maintenance in some cases.

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6. Ross JL, Bloy L, Roberts TPL, Miller J, Xing C, Silverman LA, Zinn AR. Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression. Am J Med Genet B Neuropsychiatr Genet ;2019 (Jun 3)

We describe a unique male with a dicentric Y chromosome whose phenotype was compared to that of males with 47,XYY (XYY). The male Y-chromosome aneuploidy XYY is associated with physical, behavioral/cognitive phenotypes, and autism spectrum disorders. We hypothesize that increased risk for these phenotypes is caused by increased copy number/overexpression of Y-encoded genes. Specifically, an extra copy of the neuroligin gene NLGN4Y might elevate the risk of autism in boys with XYY. We present a unique male with the karyotype 46,X,idic(Y)(q11.22), which includes duplication of the Y short arm and proximal long arm and deletion of the distal long arm, evaluated his physical, behavioral/cognitive, and neuroimaging/magnetoencephalography (MEG) phenotypes, and measured blood RNA expression of Y genes. The proband had tall stature and cognitive function within the typical range, without autism features. His blood RNA showed twofold increase in expression of Yp genes versus XY controls, and absent expression of deleted Yq genes, including NLGN4Y. The M100 latencies were similar to findings in typically developing males. In summary, the proband had overexpression of a subset of Yp genes, absent NLGN4Y expression, without ASD findings or XYY-MEG latency findings. These results are consistent with a role for NLGN4Y overexpression in the etiology of behavioral phenotypes associated with XYY. Further investigation of NLGN4Y as an ASD risk gene in XYY is warranted. The genotype and phenotype(s) of this subject may also provide insight into how Y chromosome genes contribute to normal male development and the male predominance in ASD.

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7. Schuch JB, Paixao-Cortes VR, Longo D, Roman T, Riesgo RDS, Ranzan J, Becker MM, Riegel M, Schuler-Faccini L. Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. J Mol Neurosci ;2019 (Jun 3)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, with strong genetic influences as evidenced by its high heritability. Submicroscopic variations (ranging from one kilobase to several megabases) in DNA, called copy number variations (CNVs), have been associated with psychiatric diseases, including ASD. We aimed to identify CNVs in children diagnosed with idiopathic ASD. We used microarray-based comparative genomic hybridization analysis to detect the CNVs, and bioinformatic tools to evaluate their pathogenic potential, based on predicted functional aspects. Using combined cytogenetic and bioinformatic tools, we identified an autism network of genes/proteins related to the CNVs. Among the 40 children analyzed, we found 14 potentially pathogenic CNVs, including those previously associated with ASD (located at 16p11.2, 15q11.2, and 7p21 regions). We suggest that the most relevant biological process and functional attributes involve olfactory receptors. The CNV-related autism network comprised 90 proteins and 754 nodes and indicated the family of olfactory receptors as a significant pathway in ASD. Olfactory receptors were previously associated with neurologic diseases, and they are possibly related to cognition. This integrative analysis that combines cytogenetics and bioinformatics is a promising approach to understand complex conditions such as ASD.

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