Pubmed du 29/05/19

mercredi 29 mai 2019

1. Asiminas A, Jackson AD, Louros SR, Till SM, Spano T, Dando O, Bear MF, Chattarji S, Hardingham GE, Osterweil EK, Wyllie DJA, Wood ER, Kind PC. Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome. Sci Transl Med ;2019 (May 29) ;11(494)

Fragile X Syndrome (FXS) is one of the most common monogenic forms of autism and intellectual disability. Preclinical studies in animal models have highlighted the potential of pharmaceutical intervention strategies for alleviating the symptoms of FXS. However, whether treatment strategies can be tailored to developmental time windows that define the emergence of particular phenotypes is unknown. Similarly, whether a brief, early intervention can have long-lasting beneficial effects, even after treatment cessation, is also unknown. To address these questions, we first examined the developmental profile for the acquisition of associative learning in a rat model of FXS. Associative memory was tested using a range of behavioral paradigms that rely on an animal’s innate tendency to explore novelty. Fmr1 knockout (KO) rats showed a developmental delay in their acquisition of object-place recognition and did not demonstrate object-place-context recognition paradigm at any age tested (up to 23 weeks of age). Treatment of Fmr1 KO rats with lovastatin between 5 and 9 weeks of age, during the normal developmental period that this associative memory capability is established, prevents the emergence of deficits but has no effect in wild-type animals. Moreover, we observe no regression of cognitive performance in the FXS rats over several months after treatment. This restoration of the normal developmental trajectory of cognitive function is associated with the sustained rescue of both synaptic plasticity and altered protein synthesis. The findings provide proof of concept that the impaired emergence of the cognitive repertoire in neurodevelopmental disorders may be prevented by brief, early pharmacological intervention.

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2. Biller MF, Johnson CJ. Social-Cognitive and Speech Sound Production Abilities of Minimally Verbal Children With Autism Spectrum Disorders. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):377-393.

Purpose To date, there has been a dearth of systematic research that examines both social-cognitive (SC) and speech sound production (SSP) abilities simultaneously in minimally verbal (MV) children with autism spectrum disorders (ASDs). Such an analysis would allow a unified and comprehensive view of the children’s communication abilities. The purpose of this study was to develop detailed descriptive profiles of MV children with ASD and uncover patterns in their SC and SSP abilities that may pertain to spoken language. Method This study was a descriptive, multiple clinical case study that examined 5 MV children with ASD, 4 boys and 1 girl, aged 3-6 years. The case studies consisted of demographic information, parent report, and formal and informal assessment of the children. Four SC abilities and 3 SSP abilities were assessed. Results The 5 children’s SC score, SSP score, and number of spoken words were converted to z scores. This analysis revealed 2 different patterns of development : 3 of the children had lower SC than SSP abilities, and 2 of the children had the reverse pattern. Conclusions The 5 children were low in both SC and SSP abilities. Although both domains were low, the measure that coincided most with spoken vocabulary among the 5 children was their SSP abilities. Specifically, the children had difficulty in demonstrating emerging control of the onset of voicing for specific speech sounds and verbal imitation of single speech sounds and syllables. Clinical implications of simultaneously assessing and treating SC and SSP abilities in MV children are discussed.

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3. Brondino N, Fusar-Poli L, Miceli E, Di Stefano M, Damiani S, Rocchetti M, Politi P. Prevalence of Medical Comorbidities in Adults with Autism Spectrum Disorder. J Gen Intern Med ;2019 (May 29)

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4. Coderre EL, Chernenok M, O’Grady J, Bosley L, Gordon B, Ledoux K. Implicit Measures of Receptive Vocabulary Knowledge in Individuals With Level 3 Autism. Cogn Behav Neurol ;2019 (May 24)

Implicit measures of cognition are essential for assessing knowledge in people with Level 3 autism because such individuals are often unable to make reliable overt behavioral responses. In this study, we investigated whether three implicit measures-eye movement (EM) monitoring, pupillary dilation (PD), and event-related potentials (ERPs)-can be used to reliably estimate vocabulary knowledge in individuals with Level 3 autism. Five adults with Level 3 autism were tested in a repeated-measures design with two tasks. High-frequency ’known’ words (eg, bus, airplane) and low-frequency ’unknown’ words (eg, ackee, cherimoya) were presented in a visual world task (during which EM and PD data were collected) and a picture-word congruity task (during which ERP data were collected). Using a case-study approach with single-subject analyses, we found that these implicit measures have the potential to provide estimates of receptive vocabulary knowledge in individuals with Level 3 autism. Participants differed with respect to which measures were the most sensitive and which variables best predicted vocabulary knowledge. These implicit measures may be useful to assess language abilities in individuals with Level 3 autism, but their use should be tailored to each individual.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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5. DeCarlo J, Bean A, Lyle S, Paden Miller Cargill L. The Relationship Between Operational Competency, Buy-In, and Augmentative and Alternative Communication Use in School-Age Children With Autism. Am J Speech Lang Pathol ;2019 (May 27) ;28(2):469-484.

Purpose The objective of this study was to investigate the relationship between 2 variables that influence augmentative and alternative communication (AAC) use, caregiver operational competency (i.e., the ability to navigate, customize, and program the device), and AAC system buy-in (i.e., understanding that the device acts as the child’s voice and should be treated as an extension of his or her physical body), to determine if there was a relationship between these variables and device use at home and at school in school-age children with autism who use AAC. Method The device use of 29 school-age children ( M age = 7.82 years) with an educational diagnosis of autism who use AAC was tracked using the logging feature on the participants’ AAC devices. Participants’ parents ( n = 29) and teachers ( n = 14, some teachers reported on multiple students) completed a questionnaire assessing caregiver operational competency and AAC system buy-in. Minutes of data use were extracted from each participant’s AAC device ( Cross & Segalman, 2016 ) and averaged across three randomly selected dates. Results The parents and teachers reported high rates of operational competency and buy-in. However, only 10 of the children used their devices at home during the weekends. Despite high rates of parent- and teacher-reported operational competency, participants did not use their devices at high rates. Conclusion Speech-language pathologists may also need to focus on other aspects of parent and teacher training, such as creating communication opportunities for students who use AAC to increase device use at home and at school.

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6. Ibrahim K, Kalvin C, Marsh CL, Anzano A, Gorynova L, Cimino K, Sukhodolsky DG. Anger Rumination is Associated with Restricted and Repetitive Behaviors in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (May 29)

Children with autism spectrum disorder (ASD) are reported to have greater levels of anger rumination than typically developing children. This study examined anger rumination in children with ASD in comparison to children with disruptive behavior disorder without ASD. We also tested if anger rumination is associated with aggression and the core ASD symptoms of restricted and repetitive behaviors (RRBs). This study included three groups of children aged 8-16 years : 63 had ASD (ASD group), 79 had disruptive behavior disorder (DB group), and 40 healthy controls (HC). ASD and DB groups showed greater anger rumination relative to the HC group. Anger rumination was associated with RRBs in children with ASD, suggesting the link to core ASD symptoms.

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7. Kiani R, Bhaumik S, Tyrer F, Bankart J, Miller H, Cooper SA, Brugha TS. The relationship between symptoms of autism spectrum disorder and visual impairment among adults with intellectual disability. Autism Res ;2019 (May 28)

The higher prevalence of autism reported in blind children has been commonly attributed to the confounding effects of an underlying intellectual disability. The aim of this study was to explore the relationship between symptoms of autism and blindness in adults with intellectual disability. We hypothesized that blindness can increase the probability of the autism phenotype, independent of known risk factors, that is, severity of intellectual disability and gender. A general population case register (population size of 0.7 million) was used to conduct two studies. The first study was on 3,138 adults with intellectual disability, using a validated autism risk indicator to study adults with visual impairment. This identified 386 adults with partial and complete visual impairment, both of which were associated with presence of high number of autistic traits (P < 0.001). The second study was only on those with congenital blindness using a standardized assessment tool, the Pervasive Developmental Disorder-Mental Retardation Scale. Those with hearing impairment or unilateral, partial, and acquired visual impairment were excluded. Control groups were randomly selected from those with normal hearing and vision. Prevalence of the autism phenotype was higher among those with congenital blindness (n = 46/60 ; 76.7%) than their controls (n = 36/67 ; 53.7%) and this association was statistically significant (adjusted odds ratio = 3.03 ; 95% confidence interval : 1.34-6.89 ; P = 0.008). Our results support the hypothesis that a congenital blindness independently affects psychosocial development and increases the probability of the autism phenotype. Early identification of autism could facilitate appropriate psychosocial interventions and educational opportunities to improve quality of life of people with blindness. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Although autism has been commonly reported in those with blindness, it is generally attributed to an accompanying intellectual disability. Current study, however, revealed that congenital blindness is independently associated with symptoms of autism. In spite of its high prevalence, autism can be overlooked in those with intellectual disability and blindness. Improving diagnosis in this population should, therefore, be advocated through raising awareness of this association to facilitate early access to services.

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8. Matsuzaki J, Kuschner ES, Blaskey L, Bloy L, Kim M, Ku M, Edgar JC, Embick D, Roberts TPL. Abnormal auditory mismatch fields are associated with communication impairment in both verbal and minimally verbal/nonverbal children who have autism spectrum disorder. Autism Res ;2019 (May 28)

Abnormal auditory discrimination neural processes, indexed by mismatch fields (MMFs) recorded by magnetoencephalography (MEG), have been reported in verbal children with ASD. Association with clinical measures indicates that delayed MMF components are associated with poorer language and communication performance. At present, little is known about neural correlates of language and communication skills in extremely language impaired (minimally-verbal/non-verbal) children who have ASD : ASD-MVNV. It is hypothesized that MMF delays observed in language-impaired but nonetheless verbal children with ASD will be exacerbated in ASD-MVNV. The present study investigated this hypothesis, examining MMF responses bilaterally during an auditory oddball paradigm with vowel stimuli in ASD-MVNV, in a verbal ASD cohort without cognitive impairment and in typically developing (TD) children. The verbal ASD cohort without cognitive impairment was split into those demonstrating considerable language impairment (CELF core language index <85 ; "ASD-LI") versus those with less or no language impairment (CELF CLI >85 ; "ASD-V"). Eighty-four participants (8-12 years) were included in final analysis : ASD-MVNV : n = 9, 9.67 +/- 1.41 years, ASD : n = 48, (ASD-V : n = 27, 10.55 +/- 1.21 years, ASD-LI : n = 21, 10.67 +/- 1.20 years) and TD : n = 27, 10.14 +/- 1.38 years. Delayed MMF latencies were found bilaterally in ASD-MVNV compared to verbal ASD (both ASD-V and ASD-LI) and TD children. Delayed MMF responses were associated with diminished language and communication skills. Furthermore, whereas the TD children showed leftward lateralization of MMF amplitude, ASD-MVNV and verbal ASD (ASD-V and ASD-LI) showed abnormal rightward lateralization. Findings suggest delayed auditory discrimination processes and abnormal rightward laterality as objective markers of language/communication skills in both verbal and MVNV children who have ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Brain imaging showed abnormal auditory discrimination processes in minimally-verbal/non-verbal children (MVNV) who have autism spectrum disorder (ASD). Delays in auditory discrimination were associated with impaired language and communication skills. Findings suggest these auditory neural measures may be objective markers of language and communication skills in both verbal and, previously-understudied, MVNV children who have ASD.

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9. Meng J, Shen L, Li Z, Peng W. Top-down Effects on Empathy for Pain in Adults with Autistic Traits. Sci Rep ;2019 (May 29) ;9(1):8022.

While empathic responses of individuals with autism-spectrum disorder have been reported to be modulated by top-down attention, it remains unclear whether empathy for pain in typically developing individuals with autistic traits also involves such top-down modulation mechanisms. This study employed the autism-spectrum quotient (AQ) to quantify autistic traits in a group of 1,231 healthy adults. Two subset groups (High-AQ and Low-AQ groups) were randomly selected from the highest and lowest 10% AQ scores respectively. We explored whether participants in both groups would differ in their response to others’ pain when their attention was directed toward (A-P tasks) or away (A-N tasks) from pain cues in auditory and visual experimental modalities. Compared to Low-AQ individuals, High-AQ individuals exhibited more suppressed N1 and P2 amplitudes in response to painful vocal cues in auditory A-N tasks. This suggests suppressed attentional and emotional processes of empathy for pain when High-AQ individuals have their attention directed away from others’ pain cues. No significant difference was found between both groups in the auditory A-P task, nor in the visual A-P and A-N tasks. These results suggest that top-down attention modulation of cortical empathic responses to others’ vocal pain is influenced by autistic traits.

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10. Nakanishi M, Anderson MP, Takumi T. Recent genetic and functional insights in autism spectrum disorder. Curr Opin Neurol ;2019 (May 22)

PURPOSE OF REVIEW : Recent advances in genetic technologies allowed researchers to identify large numbers of candidate risk genes associated with autism spectrum disorder (ASD). Both strongly penetrant rare variants and the accumulation of common variants with much weaker penetrance contribute to the cause of ASD. To identify the highly confident candidate genes, software and resources have been applied, and functional evaluation of the variants has provided further insights for ASD pathophysiology. These studies ultimately identify the molecular and circuit alteration underlying the behavioral abnormalities in ASD. In this review, we introduce the recent genetic and genomic findings and functional approaches for ASD variants providing a deeper understanding of the etiology of ASD. RECENT FINDINGS : Integrated meta-analysis that recruited a larger number of ASD cases has helped to prioritize ASD candidate genes or genetic loci into highly confidence candidate genes for further investigation. Not only coding but also noncoding variants have been recently implicated to confer the risk of ASD. Functional approaches of genes or variants revealed the disruption of specific molecular pathways. Further studies combining ASD genetics and genomics with recent techniques in engineered mouse models show molecular and circuit mechanisms underlying the behavioral deficits in ASD. SUMMARY : Advances in ASD genetics and the following functional studies provide significant insights into ASD pathophysiology at molecular and circuit levels.

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11. Oakes LR, Milroy JJ, Hickerson BD. Health disparities and health promotion needs of college students with intellectual and/or developmental disabilities : A systematic literature review. J Am Coll Health ;2019 (May 29):1-12.

Objective : A new population of college students is emerging on campuses across the United States : students with intellectual and/or developmental disabilities (IDD). With this new and growing population of college students, an important question persists : are their health and wellness needs being identified and met ? Participants/Methods : ProQuest Central, WorldCat, General OneFile, and ArticleFirst were searched in June 2017 using the following criteria : health of college students with IDD, health of adults with IDD, health of adolescents with IDD, and peer-reviewed. Twenty-four articles were selected for final review. Results : Specific health and wellness topics were revealed : transition experiences and worries ; college experiences, coping strategies, and support needs ; sexuality, dating, and romantic relationships ; mental health ; and drugs and alcohol. Conclusions : Research on this unique population should continue, and the etiology of health and wellness issues of college students with IDD should be established to develop and implement evidence-based programing.

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12. Sato W, Uono S. The atypical social brain network in autism : advances in structural and functional MRI studies. Curr Opin Neurol ;2019 (May 22)

PURPOSE OF REVIEW : To review advances in structural and functional MRI studies regarding the neural underpinnings of social atypicalities in autism spectrum disorder (ASD). RECENT FINDINGS : According to the hypothesis that the social brain network, which includes brain regions, such as the amygdala and superior temporal sulcus, may be atypical in ASD, recent structural MRI studies have identified regional gray matter volume abnormalities in the social brain regions in ASD groups compared with the typically developing groups. Studies evaluating gray matter volume covariance and white matter volume/integrity suggested network-level abnormalities associated with the social brain regions. Recent functional MRI studies assessing resting-state neural activity showed reduced functional connectivity among the social brain regions in individuals with ASD compared with typically developing groups. Similarly, task-based functional MRI studies recently revealed a reduction in regional activity and intraregional functional coupling in the social brain regions during the processing of social stimuli in individuals with ASD. SUMMARY : These structural and functional MRI studies provide supportive evidence for the hypothesis that an atypical social brain network underlies behavioral social problems in ASD.

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13. Taffoni F, Focaroli V, Keller F, Iverson JM. Motor performance in a shape sorter task : A longitudinal study from 14 to 36 months of age in children with an older sibling ASD. PLoS One ;2019 ;14(5):e0217416.

During development, motor skills are fundamental in supporting interactions with the external world. The ability to plan actions is a particularly important aspect of motor skill since it is involved in many daily activities. In this work, we studied the development of motor planning longitudinally in children with an older sibling with Autism Spectrum Disorder (ASD) who are at heightened risk (HR) for the disorder and children with no such risk (low risk ; LR) using a shape sorter task. Children were observed at 14, 18, 24 and 36 months. Three HR children with a later diagnosis of ASD (HR-ASD) were analyzed separately from the rest of the sample. Behavioral and kinematic data indicated that precision demands significantly influenced children’s actions, and that children’s performance improved with age. No differences were found between the HR and LR groups, but a descriptive analysis of data from the three HR-ASD suggested differences in the variables describing children’s action (as reaching time and acceleration) as well as variables describing children’s performance (as the adjustment of the shapes).

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14. Vanderslott S. Study shows lower vaccination rates for younger siblings after autism spectrum disorder diagnosis in older siblings. Evid Based Nurs ;2019 (May 29)

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15. Yuan C, Hua Y, Zhu J. The Role of Reinforcement in Multiple Response Repetition Error Correction and Treatment Preference of Chinese Children with Autism. J Autism Dev Disord ;2019 (May 29)

Error correction is a ubiquitous instructional component for children with autism spectrum disorder (ASD). In the context of alternating treatment with repeated acquisition design, we taught four young Chinese children with ASD three sets of a match-to-sample task using multiple response repetition error correction with and without reinforcement. We assessed the participants’ preferences of the procedures. Results showed that the acquisition rates were similar under both conditions. However, participant’s preferences varied, with three participants preferring error correction with reinforcement and one preferring the without-reinforcement procedure. The discussion addresses the results from our comparison in light of prior studies and learner preferences of error-correction procedures, as well as the research and practical implications of our findings.

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