Pubmed du 26/11/19

mardi 26 novembre 2019

1. Corrigendum to A Case-Mix System for Adults with Developmental Disabilities. Health services insights ;2019 ;12:1178632919889820-1178632919889820.

[This corrects the article DOI : 10.1177/1178632919856011.].

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2. Attia SM, Al-Hamamah MA, Ahmad SF, Nadeem A, Attia MSM, Ansari MA, Bakheet SA, Al-Ayadhi LY. Evaluation of DNA repair efficiency in autistic children by molecular cytogenetic analysis and transcriptome profiling. DNA repair ;2019 ;85:102750-102750.

Data regarding DNA repair perturbations in autism, which might increase the risk of malignancy, are scarce. To evaluate whether DNA repair may be disrupted in autistic children, we assessed the incidence of endogenous basal DNA strand breaks as well as the efficiency of repairing DNA damage caused by γ-ray in lymphocytes isolated from autistic and healthy children. The incidence of DNA damage and the kinetics of DNA repair were determined by comet assay, while the incidence of residual DNA damage was evaluated by structural chromosomal aberration analysis. Transcriptome profiling of 84 genes associated with DNA damage and repair-signaling pathways was performed by RT² Profiler PCR Array. The array data were confirmed by RT-PCR and western blot studies. Our data indicate that the incidence of basal oxidative DNA strand breaks in autistic children was greater than that in nonautistic controls. Lymphocytes from autistic children displayed higher susceptibility to damage by γ-irradiation and slower repair rate than those from nonautistic children. Although the total unstable chromosomal aberrations were unaffected, lymphocytes from autistic children were more susceptible to chromosomal damage caused by γ-ray than those from nonautistic children. Transcriptomic analysis revealed that several genes associated with repair were downregulated in lymphocytes from autistic individuals and in those exposed to γ-irradiation. This may explain the increased oxidative DNA damage and reduced repair rate in lymphocytes from autistic individuals. These features may be related to the possible correlation between autism and the elevated risk of cancer and may explain the role of the disruption of the DNA repair process in the pathogenesis of autism.

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3. Barokova M, Tager-Flusberg H. Person-reference in autism spectrum disorder : Developmental trends and the role of linguistic input. Autism research : official journal of the International Society for Autism Research ;2019:10.1002/aur.2243.

Past research has provided mixed evidence of the nature and difficulty with personal pronouns of children with autism spectrum disorder. No study to date has examined the nature of person-reference in autism, more broadly, by looking at referential language both in terms of who is being referred to (self vs. other) and how (words with shifting reference : personal pronouns, vs. fixed reference : names and nouns). Furthermore, the role of linguistic input specifically in the domain of referential language in autism has not been investigated before. We collected natural language samples from parent-child interactions from children with autism (N = 38 ; 7 female) at three time points (age 2, 3, and 4 years) and administered a battery of standardized assessments to evaluate their language ability. The samples were transcribed and coded for person-referential language. Children with autism used increasingly more pronouns both when referring to themselves and to their parent, but pronoun reversals were extremely rare. Their person-reference use was associated with language ability only at age 2. Parental input was also characterized by an increase in pronoun use but only when referring to their child. Parents’ and children’s person-reference were not associated across time, but they were concurrently related at age 3. Autism Res 2019. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : In this study, we found that as children with autism grew older, they used more and more personal pronouns to refer both to themselves and their parents. Furthermore, they very rarely reversed their pronouns (used I instead of you) with only 1 child out of 38 making a pronoun error. This lack of pronoun errors suggests that pronoun difficulty in autism might not occur for long periods of time throughout development and might not be as prevalent in autism as previously thought.

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4. González-Romero MF, Avina-Galindo AM, Elbe D, Friedlander R, Vila-Rodriguez F. Lifesaving Electroconvulsive Therapy for a Child With Autism Spectrum Disorder, Severe Self-Injurious Behavior, and Neuroleptic Malignant Syndrome. The journal of ECT ;2019 ;35(4):e55-e56.

We present a case of a preteen with autism spectrum disorder and severe self-injurious behavior who developed neuroleptic malignant syndrome on antipsychotics and required urgent electroconvulsive therapy and continued maintenance electroconvulsive therapy for ongoing clinical stability.

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5. Jenabi E, Ataei S, Bashirian S. Evaluation of drug interventions for the treatment of sleep disorders in children with autism spectrum disorders : a systematic review. Korean journal of pediatrics ;2019 ;62(11):405-409.

A structured review study of drug interventions on sleep disorders in patients with autism spectrum disorders (ASD) has not been published to date. This systematic review aimed to investigate drug interventions for the treatment of sleep disorders in children with ASD. The Web of Science, PubMed, and Scopus databases were searched until March 2019. Study quality was assessed using the Delphi checklist. Due to the heterogeneity of the findings, a meta-analysis was not possible. Drug interventions for the treatment of sleep disorders in patients with ASD included melatonin, atomoxetine, and risperidone. Atomoxetine had no effect on sleep disorders in patients with ASD. A total of 10 studies were reviewed. Melatonin appears to be useful for the treatment of sleep problems in patients with ASD, but further studies are needed to determine the effects of other drugs.

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6. Kaur M, Bhat A. Creative Yoga Intervention Improves Motor and Imitation Skills of Children With Autism Spectrum Disorder. Physical therapy ;2019 ;99(11):1520-1534.

BACKGROUND : There is growing evidence for motor impairments in children with autism spectrum disorder (ASD), including poor gross and fine motor performance, poor balance, and incoordination. However, there is limited evidence on the effects of motor interventions for this population. OBJECTIVE : In the present study, the effects of a physical therapy intervention using creative yoga on the motor and imitation skills of children with ASD were evaluated. DESIGN : This study had a pretest-posttest control group design. METHODS : Twenty-four children with ASD aged between 5 and 13 years received 8 weeks of a physical therapist-delivered yoga or academic intervention. Children were tested before and after the intervention using a standardized motor measure, the Bruininks-Oseretsky Test of Motor Performance-2nd Edition (BOT-2). The imitation skills of children using familiar training-specific actions (ie, poses for the yoga group and building actions for the academic group) were also assessed. RESULTS : After the intervention, children in the yoga group improved gross motor performance on the BOT-2 and displayed fewer imitation/praxis errors when copying training-specific yoga poses. In contrast, children in the academic group improved their fine motor performance on the BOT-2 and performed fewer imitation errors while completing the training-specific building actions. LIMITATIONS : The study limitations include small sample size and lack of long-term follow-up. CONCLUSIONS : Overall, creative interventions, such as yoga, are promising tools for enhancing the motor and imitation skills of children with ASD.

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7. Knowland VCP, Fletcher F, Henderson L-M, Walker S, Norbury CF, Gaskell MG. Sleep Promotes Phonological Learning in Children Across Language and Autism Spectra. Journal of speech, language, and hearing research : JSLHR ;2019:1-21.

Purpose Establishing stable and flexible phonological representations is a key component of language development and 1 which is thought to vary across children with neurodevelopmental disorders affecting language acquisition. Sleep is understood to support the learning and generalization of new phonological mappings in adults, but this remains to be examined in children. This study therefore explored the time course of phonological learning in childhood and how it varies by structural language and autism symptomatology. Method Seventy-seven 7- to 13-year-old children, 30 with high autism symptomatology, were included in the study ; structural language ability varied across the sample. Children learned new phonological mappings based on synthesized speech tokens in the morning ; performance was then charted via repetition (without feedback) over 24 hr and followed up 4 weeks later. On the night following learning, children’s sleep was monitored with polysomnography. Results A period of sleep but not wake was associated with improvement on the phonological learning task in childhood. Sleep was associated with improved performance for both trained items and novel items. Structural language ability predicted overall task performance, though language ability did not predict degree of change from 1 session to the next. By contrast, autism symptomatology did not explain task performance. With respect to sleep architecture, rapid eye movement features were associated with greater phonological generalization. Conclusions Children’s sleep was associated with improvement in performance on both trained and novel items. Phonological generalization was associated with brain activity during rapid eye movement sleep. This study furthers our understanding of individual differences in the acquisition of new phonological mappings and the role of sleep in this process over childhood. Supplemental Material

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8. MacDuffie KE, Turner-Brown L, Estes AM, Wilfond BS, Dager SR, Pandey J, Zwaigenbaum L, Botteron KN, Pruett JR, Piven J, Peay HL. "If He Has it, We Know What to Do" : Parent Perspectives on Familial Risk for Autism Spectrum Disorder. Journal of pediatric psychology ;2019:jsz076.

OBJECTIVE : Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction ; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. METHODS : Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3-15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. RESULTS : The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior : increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. CONCLUSIONS : Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated-but still highly uncertain-risk conveyed by family history.

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9. Nyrenius J, Billstedt E. The functional impact of cognition in adults with autism spectrum disorders. Nordic Journal of Psychiatry ;2019:1-6.

Purpose and aim : The overall aim of this study was to examine the relationship between adaptive function and cognitive factors in young adults diagnosed with autism spectrum disorder (ASD) in adult age.Methods : The study included 30 adults (age 18-30) diagnosed with ASD in adulthood. All participants were clinically referred to an adult psychiatric clinic for assessment. Adaptive functioning was measured with Adaptive Behavior Assessment System - 2nd edition (parent version). Wechsler scales of intelligence and Delis-Kaplan Executive Function System were used to measure intelligence and executive function.Results : We found considerable adaptive functioning deficits regardless of Full Scale Intelligence Quotient (FSIQ) level. FSIQ, working memory and processing speed were positively associated with adaptive functioning. No associations were found between adaptive functioning and cognitive flexibility, inhibition, word generation or shifting. Regression analysis showed that working memory and processing speed predicted 23% of the variance in adaptive functioning in this group.Conclusions : The results suggest that cognitive dysfunction could be an important area for intervention to improve adaptive functioning in ASD. years) diagnosed with ASD in adult age. We found considerable adaptive functioning deficits regardless of IQ level. IQ, working memory and processing speed were positively associated with adaptive functioning. No association was found between adaptive functioning and cognitive flexibility, inhibition, word generation or shifting. Our results suggest that working memory and processing speed predict 23% of the variance in adaptive functioning in this group. The results suggest that cognitive dysfunction could be an important area for targeted support in the ASD group.

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10. O’Sullivan OP. Autism spectrum disorder in prison and secure care. Irish journal of psychological medicine ;2019:1-3.

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11. Sandbank M, Bottema-Beutel K, Crowley S, Cassidy M, Dunham K, Feldman JI, Crank J, Albarran SA, Raj S, Mahbub P, Woynaroski TG. Project AIM : Autism intervention meta-analysis for studies of young children. Psychological bulletin ;2019:10.1037/bul0000215.

In this comprehensive systematic review and meta-analysis of group design studies of nonpharmacological early interventions designed for young children with autism spectrum disorder (ASD), we report summary effects across 7 early intervention types (behavioral, developmental, naturalistic developmental behavioral intervention [NDBI], TEACCH, sensory-based, animal-assisted, and technology-based), and 15 outcome categories indexing core and related ASD symptoms. A total of 1,615 effect sizes were gathered from 130 independent participant samples. A total of 6,240 participants, who ranged in age from 0-8 years, are represented across the studies. We synthesized effects within intervention and outcome type using a robust variance estimation approach to account for the nesting of effect sizes within studies. We also tracked study quality indicators, and report an additional set of summary effect sizes that restrict included studies to those meeting prespecified quality indicators. Finally, we conducted moderator analyses to evaluate whether summary effects across intervention types were larger for proximal as compared with distal effects, and for context-bound as compared to generalized effects. We found that when study quality indicators were not taken into account, significant positive effects were found for behavioral, developmental, and NDBI intervention types. When effect size estimation was limited to studies with randomized controlled trial (RCT) designs, evidence of positive summary effects existed only for developmental and NDBI intervention types. This was also the case when outcomes measured by parent report were excluded. Finally, when effect estimation was limited to RCT designs and to outcomes for which there was no risk of detection bias, no intervention types showed significant effects on any outcome. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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12. Sharma R, Rahi S, Mehan S. Neuroprotective potential of solanesol in intracerebroventricular propionic acid induced experimental model of autism : Insights from behavioral and biochemical evidence. Toxicology reports ;2019 ;6:1164-1175.

Autism is the category used within the newest edition of the diagnostic and statistical manual of neurodevelopmental disorders. Autism is a spectrum of disorder where a variety of behavioural patterns observed in autistic patients, such as stereotypes and repetitive behavior, hyperexcitability, depression-like symptoms, and memory and cognitive dysfunctions. Neuropathological hallmarks that associated with autism are mitochondrial dysfunction, oxidative stress, neuroinflammation, Neuro-excitation, abnormal synapse formation, overexpression of glial cells in specific brain regions like cerebellum, cerebral cortex, amygdala, and hippocampus. ICV injection of propionic acid (PPA) (4 μl/0.26 M) mimics autistic-like behavioral and biochemical alterations in rats. Literature findings reveal that there is a link between autism neuronal mitochondrial coenzyme-Q10 (CoQ10) and ETC-complexes dysfunctions are the keys pathogenic events for autism. Therefore, in the current study, we explore the neuroprotective interventions of Solanesol (SNL) 40 and 60 mg/kg alone and in combination with standard drugs Aripiprazole (ARP) 5 mg/kg, Citalopram (CTP) 10 mg/kg, Memantine (MEM) 5 mg/kg and Donepezil (DNP) 3 mg/kg to overcome behavioral and biochemical alterations in PPA induced experimental model of Autism. Chronic treatment with SNL 60 mg/kg in combination with standard drug shows a marked improvement in locomotion, muscle coordination, long-term memory and the decrease in depressive behavior. While, chronic treatment of SNL alone and in combination with standard drug aripiprazole, citalopram, donepezil, and memantine shows the Neuroprotective potential by enhancing the cognitive deficits, biochemical alterations along with reducing the level of inflammatory mediators and oxidative stress.

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13. Sterwald C, Baker J. Frosted Intellectuals : How Dr. Leo Kanner Constructed the Autistic Family. Perspectives in biology and medicine ;2019 ;62(4):690-709.

Dr. Leo Kanner, in his delineation of autism as a clinical entity, is also remembered for having created a powerful stereotype of parents of autistic children as highly educated, intelligent, and emotionally distant. As historians have come to understand that autism arose out of a preceding diagnosis, childhood schizophrenia, it has also become clear that the so-called "refrigerator mother" caricature arose out of the preceding notion of the cold "schizophrenogenic" mother. However, this does not explain Kanner’s belief that parents (fathers as well as mothers) were highly educated and intelligent. This study is the first to compare Kanner’s famous published case studies with case records of his patients in the Phipps Clinic at Johns Hopkins in order to discover how this stereotype was created. Contrary to his assertion in the published literature, Kanner did indeed see patients with autism whose parents who did not fit his stereotype, but he did not publish these cases. Kanner’s stereotype of the "autistic parent" thus seems to have arisen through a process of confirmation bias. This continues to have ramifications to the present day, by linking autism in the popular mind to highly educated and professional parents, and by leading patients with nonstereotypical patients to go unrecognized.

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14. Tomova A, Soltys K, Repiska G, Palkova L, Filcikova D, Minarik G, Turna J, Prochotska K, Babinska K, Ostatnikova D. Specificity of gut microbiota in children with autism spectrum disorder in Slovakia and its correlation with astrocytes activity marker and specific behavioural patterns. Physiology & behavior ;2019:112745-112745.

Recent research suggests the involvement of bidirectional gut-brain axis in autism spectrum disorder (ASD). The aim of this study was to establish the role of changed gut microbiota in behavioural and gastrointestinal manifestations, but also in astrocyte activation in children with ASD. Distinct faecal microbiota in children with ASD was found to be more heterogeneous compared to that in neurotypical children. Different bacterial abundance and correlation with behavioural and GI manifestations revealed several bacterial genera possibly important for ASD. Microbial-neuronal cross talk could be accomplished through S100B, released by glial cells, activated by low grade inflammation. More complex studies are required to understand ASD pathogenesis.

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15. Tsai T-H, Chen Y-L, Gau SS-F. Relationships between autistic traits, insufficient sleep, and real-world executive functions in children : a mediation analysis of a national epidemiological survey. Psychological Medicine ;2019:1-8.

BACKGROUND : Although the literature documents low executive functions and sleep deficits in individuals with autism spectrum disorder or subclinical autistic traits, no study has simultaneously examined their relationships in the general child population. This study aimed to examine whether autistic traits impacted real-world executive functions through insufficient sleep in a nationally representative sample of children. METHODS : This was a national survey of 6832 primary and secondary school students, aged 8-14 years old, with equal sex distribution (3479 boys, 50.8%). Parents reported their child’s nocturnal sleep duration and the need for sleep to maintain their daytime function and the Social Responsiveness Scale and the Behavior Rating Inventory of Executive Function (BRIEF) for their children’s autistic traits and real-world executive functions, respectively. RESULTS : We found that autistic traits exerted indirect effects on real-world executive functions through sleep deficits, independent of sex, and age. Moreover, such an indirect effect was observed only from restricted and repetitive behaviors to executive functions through sleep deficits, but not in the other components of autistic traits (i.e. social communication and interaction). CONCLUSIONS : Our novel findings underscore the importance of sleep and autistic traits in executive functions and suggest potential mechanisms that may underlie the observed correlational structure among autistic behaviors, sleep deficits, and low executive function performance.

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