Pubmed du 24/03/20

mardi 24 mars 2020

1. Abbeduto L, Berry-Kravis E, Sterling A, Sherman S, Edgin JO, McDuffie A, Hoffmann A, Hamilton D, Nelson M, Aschkenasy J, Thurman AJ. Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome : feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 ; 12(1) : 10.

BACKGROUND : The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed : (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS : Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers) : number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS : We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS : The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12.

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2. Anns S, Gaigg SB, Hampton JA, Bowler DM, Boucher J. Declarative Memory and Structural Language Impairment in Autistic Children and Adolescents. Autism Res. 2020.

Two experiments tested the hypothesis that a plausible contributory factor of structural language impairment in Autism Spectrum Disorder (ASD) is impaired declarative memory. We hypothesized that familiarity and recollection (subserving semantic and episodic memory, respectively) are both impaired in autistic individuals with clinically significant language impairment and learning disability (ASD(LI/LD) ) ; whereas recollection is selectively impaired in autistic individuals with typical language (ASD(TL) ). Teenagers with ASD(LI/LD) (n = 19) and primary school age children with ASD(TL) (n = 26) were compared with teenagers with learning disability (LD) (n = 26) without autism, and primary school aged typically developing (TD) children (n = 32). Both experiments provided strong support for the hypothesized links between declarative memory processes and lexical-semantic facets of language in the two autistic groups, but not in the TD group. Additional findings of interest were that declarative memory processes and lexical-semantic knowledge were also linked in the LD group and that the ASD groups-and to a lesser extent the LD group-may have compensated for declarative memory impairments using spared visual-perceptual abilities, a finding with potential educational implications. Relative difficulties with familiarity and recollection in ASD(LI/LD) and LD may help explain structural language impairment, as investigated here, but also the broader learning disabilities found in these populations. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Language impairment and learning disability affect 45% of the autistic population yet the factors that may be contributing to them is remarkably under-researched. To date there are no explanations of the lexical semantic (word meaning) abnormalities observed in ASD. We found that declarative memory is associated with lexical semantic knowledge in autism and learning disability but not in typical development. Difficulties with declarative memory may also be compensated for using visual-perceptual abilities by autistic and learning-disabled adolescents, which has positive implications for educationalists.

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3. Gaucher M, Forget J. Temporal regulation of children with autism spectrum disorder exposed to a differential-reinforcement-of low-rates schedule. Journal of the experimental analysis of behavior. 2020.

This study investigated temporal adjustment of children with autism spectrum disorder under a differential-reinforcement-of-low-rates (DRL) schedule. Sixteen participants, aged 3.2 to 7 years, were exposed to two conditions, DRL 5 s and DRL 20 s. Children participated in 7 sessions in each condition, except for 1 participant who attained the adjustment criteria in the DRL 5-s schedule. Temporal adjustment was measured with the proportion of reinforced interresponse times (IRTs) and the mean IRT. The operant response was a press on a touch screen and the reinforcers were cartoons. IQ and receptive language were measured prior to the DRL sessions. Results showed that the mean proportion of reinforced IRTs was slightly higher in the DRL 5-s schedule. The mean IRT was above the IRT requirement in both conditions. However, substantial individual variability was observed. Children with higher IQ and receptive language scores presented a greater proportion of reinforced IRTs in both conditions. Moreover, participants who adjusted their responses to the DRL 5-s schedule were more likely to adjust responding to the DRL 20-s schedule. This suggests that some children might be more sensitive to reinforcement contingencies than others. This study points at future research in the field of timing in children.

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4. Hill JR, Ziviani J, Driscoll C. Canine-assisted occupational therapy for children on the autism spectrum : Parents’ perspectives. Australian occupational therapy journal. 2020.

INTRODUCTION : Canine-assisted therapy is thought to facilitate the engagement of children on the autism spectrum within therapy sessions. There is limited research, however, about how canine-assisted occupational therapy with children on the autism spectrum enhances their engagement in therapy and therapy outcomes. The aim of this study was to gain the perspectives of parents who observed and participated in occupational therapy sessions, with canine assistance, with their children on the autism spectrum. METHOD : This study was guided by a qualitative interpretive description design. A total of 10 parents participated in one semi-structured interview to describe their experience of canine-assisted occupational therapy with their child. Inductive thematic analysis was used to analyse the data. RESULTS : Four themes emerged which described parents’ experiences of canine-assisted occupational therapy with their children on the autism spectrum, these were : therapist qualities, goal-directed (canine-assisted) therapy, emotional safety, and therapy engagement. Parents described that the inclusion of the therapy dog appeared to provide emotional safety within the sessions facilitating rapport building between their child and the therapist. However, parents indicated that the inclusion of the therapy dog alone was not sufficient to facilitate therapy engagement for their children. The skills and qualities of the therapist as well as the provision of goal-directed therapy were considered essential for children’s engagement. CONCLUSION : The findings from this study contribute to our understanding of the impact of canine-assisted occupational therapy for children on the autism spectrum. This sparsely researched area requires more evaluation to ensure best practice canine-assisted occupational therapy for children on the autism spectrum.

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5. Hossain MM, Khan N, Sultana A, Ma P, McKyer ELJ, Ahmed HU, Purohit N. Prevalence of comorbid psychiatric disorders among people with autism spectrum disorder : An umbrella review of systematic reviews and meta-analyses. Psychiatry Res. 2020 ; 287 : 112922.

With ever-increasing prevalence of various mental disorders worldwide, a comprehensive evaluation of the prevalence of co-occurring psychiatric disorders among individuals with autism spectrum disorder (ASD) is needed to strengthen the knowledge base. This umbrella review aims to summarize the current evidence on the prevalence of comorbid psychiatric disorders among people with ASD. A systematic search of 12 major databases and additional sources was conducted. Any systematically conducted narrative, qualitative, or meta-analytic review reporting the prevalence of psychiatric disorders among people with ASD with no age or geographical restriction were included. From a total of 2755 records, 26 articles representing 14 systematic reviews and 12 meta-analyses met the criteria of this review. The synthesized findings reveal a high burden of comorbid psychiatric disorders among people with ASD, including anxiety disorders, depressive disorders, bipolar and mood disorders, schizophrenia spectrum, suicidal behavior disorders, attention-deficit/hyperactivity disorder, disruptive, impulse-control and conduct disorders amongst diverse age groups, with a majority in younger participants. Most studies were conducted in developed nations, with limited evidence from low and middle-income countries. These synthesized findings provide high-quality evidence for clinical and policy-level decision-making from a global overview of the status of comorbid psychiatric disorders among people with ASD.

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6. Kawakami S, Uono S, Otsuka S, Yoshimura S, Zhao S, Toichi M. Atypical Multisensory Integration and the Temporal Binding Window in Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The present study examined the relationship between multisensory integration and the temporal binding window (TBW) for multisensory processing in adults with Autism spectrum disorder (ASD). The ASD group was less likely than the typically developing group to perceive an illusory flash induced by multisensory integration during a sound-induced flash illusion (SIFI) task. Although both groups showed comparable TBWs during the multisensory temporal order judgment task, correlation analyses and Bayes factors provided moderate evidence that the reduced SIFI susceptibility was associated with the narrow TBW in the ASD group. These results suggest that the individuals with ASD exhibited atypical multisensory integration and that individual differences in the efficacy of this process might be affected by the temporal processing of multisensory information.

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7. Luoni M, Giannelli S, Indrigo MT, Niro A, Massimino L, Iannielli A, Passeri L, Russo F, Morabito G, Calamita P, Gregori S, Deverman B, Broccoli V. Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome. eLife. 2020 ; 9.

Rett syndrome is an incurable neurodevelopmental disorder caused by mutations in the gene encoding for methyl-CpG binding-protein 2 (MeCP2). Gene therapy for this disease presents inherent hurdles since MECP2 is expressed throughout the brain and its duplication leads to severe neurological conditions as well. Herein, we use the AAV-PHP.eB to deliver an instability-prone Mecp2 (iMecp2) transgene cassette which, increasing RNA destabilization and inefficient protein translation of the viral Mecp2 transgene, limits supraphysiological Mecp2 protein levels. Intravenous injections of the PHP.eB-iMecp2 virus in symptomatic Mecp2 mutant mice significantly improved locomotor activity, lifespan and gene expression normalization. Remarkably, PHP.eB-iMecp2 administration was well tolerated in female Mecp2 mutant or in wild-type animals. In contrast, we observed a strong immune response to the transgene in treated male Mecp2 mutant mice that was overcome by immunosuppression. Overall, PHP.eB-mediated delivery of iMecp2 provided widespread and efficient gene transfer maintaining physiological Mecp2 protein levels in the brain.

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8. Norris JE, Crane L, Maras K. Interviewing autistic adults : Adaptations to support recall in police, employment, and healthcare interviews. Autism. 2020 : 1362361320909174.

LAY ABSTRACT : During many types of interviews (e.g. in employment, with the police, and in healthcare), we need to recall detailed memories of specific events, which can be difficult for autistic people in response to commonly used questions. This is especially because these tend to be open questions (i.e. very broad). Autistic people have disproportionately high rates of physical and mental health conditions, are more likely to interact with police, and are the most underemployed disability group. However, interviewers are often unsure about how to adapt their communication for autistic people. Our research tested whether different types of prompts enabled autistic people to recall specific memories (memories of a single event within one day). Participants were asked about situations relating to witnessing a crime (e.g. at the bank), physical or mental health scenarios and employment interviews (e.g. a time you’ve met a deadline). We tested the following : Open questions : basic questions only (e.g. ’tell me about a time you went to the cinema’), Semantic prompting : a general prompt (e.g. ’do you enjoy going to the cinema ?’) before asking for a specific instance (’tell me about a time you went to the cinema ?’), Visual-verbal prompting : asking participants to recall when it happened, who was there, the actions that occurred, the setting, and any objects. With visual-verbal prompting, autistic and typically developing participants’ memories were more specific and detailed. Semantic prompting was also effective for employment questions. Our study shows that autistic people can recall specific memories when they are appropriately prompted. Visual-verbal prompting may be effective across different situations.

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9. Rodrigues DC, Mufteev M, Weatheritt RJ, Djuric U, Ha KCH, Ross PJ, Wei W, Piekna A, Sartori MA, Byres L, Mok RSF, Zaslavsky K, Pasceri P, Diamandis P, Morris Q, Blencowe BJ, Ellis J. Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome. Cell reports. 2020 ; 30(12) : 4179-96.e11.

Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal engagement (RE) during human neurodevelopment, we use parallel translating ribosome affinity purification sequencing (TRAP-seq) and RNA sequencing (RNA-seq) on control and RTT human induced pluripotent stem cells, neural progenitor cells, and cortical neurons. We find that 30% of transcribed genes are translationally regulated, including key gene sets (neurodevelopment, transcription and translation factors, and glycolysis). Approximately 35% of abundant intergenic long noncoding RNAs (lncRNAs) are ribosome engaged. Neurons translate mRNAs more efficiently and have longer 3’ UTRs, and RE correlates with elements for RNA-binding proteins. RTT neurons have reduced global translation and compromised mTOR signaling, and >2,100 genes are translationally dysregulated. NEDD4L E3-ubiquitin ligase is translationally impaired, ubiquitinated protein levels are reduced, and protein targets accumulate in RTT neurons. Overall, the dynamic translatome in neurodevelopment is disturbed in RTT and provides insight into altered ubiquitination that may have therapeutic implications.

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10. Shitik EM, Velmiskina AA, Dolskiy AA, Yudkin DV. Reactivation of FMR1 gene expression is a promising strategy for fragile X syndrome therapy. Gene therapy. 2020.

Fragile X syndrome (FXS) is the most common form of intellectual disability and autism spectrum disorder and is caused by CGG repeat expansion in the promoter region of the FMR1 gene, which encodes fragile X mental retardation protein. This event leads to gene silencing and the loss of gene products through DNA methylation and chromatin remodeling. Due to the pathogenesis of FXS, targeted, symptomatic, and etiological approaches have been developed for its treatment. Despite their rapid development, symptomatic and targeted treatment approaches have numerous limitations ; etiological approaches have the greatest potential because they affect the main causes of transcriptional silencing. In this review, we consider three potential etiological therapeutic methods that affect the reactivation of FMR1 gene expression : treatment with inhibitors of chromatin-modifying enzymes, the use of noncoding RNAs and the application of gene therapy. Inhibitors of chromatin-modifying enzymes are not clinically applicable because of their low reactivity and high cytotoxicity, and noncoding RNAs are currently only under study. Thus, we discuss gene therapy as the most promising approach for treating FXS in the near future.

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11. Yoganathan S, Sharma S, Varman M, Malhotra M, Chandran M, Arunachal G, Thomas M. A Treatable Cause of Intellectual Disability and Autism in a Young Child. Indian journal of pediatrics. 2020.

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12. Zajic MC, Solari EJ, McIntyre NS, Lerro L, Mundy PC. Overt planning behaviors during writing in school-age children with autism spectrum disorder and attention-deficit/hyperactivity disorder. Res Dev Disabil. 2020 ; 100 : 103631.

BACKGROUND : The planning behaviors of children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) during writing remain overlooked. Targeted examination of planning behaviors may help to better understand their heterogeneous writing skills. AIMS : This study examined overt planning behaviors of three groups of school-age children (ASD, ADHD, and typically developing [TD]) during the planning stage of a standardized narrative writing assessment. Aims explored group differences in time spent planning, between- and within-group differences in overt planning behaviors, and relationships between planning behaviors and writing performance as well as age, cognitive skills, and diagnostic symptom severity. METHODS AND PROCEDURES : This study included 121 9-17-year-old children (60 ASD, 32 ADHD, and 29 TD). Video recordings captured overt planning behaviors during a two-minute prewriting planning stage. OUTCOMES AND RESULTS : Not all participants planned, but group membership overwhelmingly did not influence planning likelihood. Groups differed in time spent engaging with the outline (29 %-70 %), with the TD group spending the most time. Groups spent similar amounts of time looking away from the task (< 10 %) and looking at the task picture (20 %-33 %). The TD and ASD groups demonstrated more similar within-group-level differences in planning behavior s, while the ADHD group appeared more variable. The ADHD and TD groups but not the ASD group showed stronger associations between planning behaviors and writing performance. CONCLUSIONS AND IMPLICATIONS : Children with ASD and ADHD differed relative to each other and to TD peers in specific planning behaviors. Implications are discussed regarding instructional practices and needed future research to examine planning during writing in children with developmental disabilities.

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