Pubmed du 24/07/20

vendredi 24 juillet 2020

1. Agote-Aran A, Schmucker S, Jerabkova K, Jmel Boyer I, Berto A, Pacini L, Ronchi P, Kleiss C, Guerard L, Schwab Y, Moine H, Mandel JL, Jacquemont S, Bagni C, Sumara I. Spatial control of nucleoporin condensation by fragile X-related proteins. EMBO J ;2020 (Jul 24):e104467.

Nucleoporins (Nups) build highly organized nuclear pore complexes (NPCs) at the nuclear envelope (NE). Several Nups assemble into a sieve-like hydrogel within the central channel of the NPCs. In the cytoplasm, the soluble Nups exist, but how their assembly is restricted to the NE is currently unknown. Here, we show that fragile X-related protein 1 (FXR1) can interact with several Nups and facilitate their localization to the NE during interphase through a microtubule-dependent mechanism. Downregulation of FXR1 or closely related orthologs FXR2 and fragile X mental retardation protein (FMRP) leads to the accumulation of cytoplasmic Nup condensates. Likewise, models of fragile X syndrome (FXS), characterized by a loss of FMRP, accumulate Nup granules. The Nup granule-containing cells show defects in protein export, nuclear morphology and cell cycle progression. Our results reveal an unexpected role for the FXR protein family in the spatial regulation of nucleoporin condensation.

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2. Alfuraydan M, Croxall J, Hurt L, Kerr M, Brophy S. Use of telehealth for facilitating the diagnostic assessment of Autism Spectrum Disorder (ASD) : A scoping review. PLoS One ;2020 ;15(7):e0236415.

There is a significant delay between seeking help and a confirmed diagnosis of Autism Spectrum Disorder (ASD). This delay can lead to poor outcomes for both the families and individuals. Telehealth potentially offers a way of improving the diagnostic pathway for ASD. We conducted a scoping review examining which telehealth approaches are used in the diagnosis and assessment of ASD in children and adults, whether they are feasible and acceptable, and how they compare with face-to-face diagnosis and assessment methods. A search for all peer-reviewed articles, combining the terms of autism and telehealth was conducted from 2000 to 2019. A total of 10 studies were identified for inclusion in the review. This review of the literature found there to be two methods of using telehealth : (a) Real-Time method e.g. video conferencing that enables teams in different areas to consult with the families and to assess the child/adult in real time and (b) A Store-and-Forward method as Naturalistic Observation Diagnostic Assessment (NODA) system to upload videos of child’s behaviors to a webportal that enables the clinicians to make an assessment remotely. The findings were positive, finding there to be high agreement in terms of the diagnosis between remote methods and face to face methods and with high levels of satisfaction among the families and clinicians. This field is in the very early stages and so only studies with small sample size using surveys and interviews were identified but the findings suggest that there is potential for telehealth methods to improve access to assessment and diagnosis of ASD used in conjunction with existing methods, especially for those with clear autism traits and adults with ASD. Larger randomised controlled trials of this technology are warranted.

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3. Ameis SH, Lai MC, Mulsant BH, Szatmari P. Coping, fostering resilience, and driving care innovation for autistic people and their families during the COVID-19 pandemic and beyond. Mol Autism ;2020 (Jul 22) ;11(1):61.

The new coronavirus disease (COVID-19) pandemic is changing how society operates. Environmental changes, disrupted routines, and reduced access to services and social networks will have a unique impact on autistic individuals and their families and will contribute to significant deterioration in some. Access to support is crucial to address vulnerability factors, guide adjustments in home environments, and apply mitigation strategies to improve coping. The current crisis highlights that our regular care systems are not sufficient to meet the needs of the autism communities. In many parts of the world, people have shifted to online school and increased use of remote delivery of healthcare and autism supports. Access to these services needs to be increased to mitigate the negative impact of COVID-19 and future epidemics/pandemics. The rapid expansion in the use of telehealth platforms can have a positive impact on both care and research. It can help to address key priorities for the autism communities including long waitlists for assessment and care, access to services in remote locations, and restricted hours of service. However, system-level changes are urgently needed to ensure equitable access and flexible care models, especially for families and individuals who are socioeconomically disadvantaged. COVID-19 mandates the use of technology to support a broader range of care options and better meet the diverse needs of autistic people and their families. It behooves us to use this crisis as an opportunity to foster resilience not only for a given individual or their family, but also the system : to drive enduring and autism-friendly changes in healthcare, social systems, and the broader socio-ecological contexts.

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4. Bloh C, Johnson N, Strohl C, Tidmarsh N. Increasing Communication for Students with Visual Impairments and Developmental Disabilities. Anal Verbal Behav ;2020 (Jun) ;36(1):157-168.

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5. Chang J, Kochel R. Vaccine Hesitancy and Attributions for Autism among Racially and Ethnically Diverse Groups of Parents of Children with Autism Spectrum Disorder : A Pilot Study. Autism Res ;2020 (Jul 24)

Little is known about how racial/ethnic differences may influence attributions for autism spectrum disorder (ASD) and subsequent vaccine hesitancy, the latter of which refers to a continuum of concerns about vaccine safety that may lead to vaccine delays and/or refusals. Two hundred and twenty-five parents of children with ASD who were enrolled in the SPARK cohort (Simons Foundation Powering Autism Research for Knowledge) completed the Parent Attitudes about Childhood Vaccines survey and the Revised Illness Perception Questionnaire. 28.9% of respondents (n = 65) were vaccine hesitant (PACV score ≥ 50). Significant differences were observed between proportions of vaccine-hesitant parents (VHP) in the White sample and combined samples of color (Asian, Black, Latinx, Multiracial, and Other) : 22.8% of the White sample (n = 39) versus 48.1% of the samples of color (n = 26). White, non-hesitant parents more often agreed with the child’s brain structure as a cause of their child’s ASD, while White, VHP more often agreed with the deterioration of the child’s immunity as a cause. All VHP (regardless of race) agreed more often with diet, their own decisions, and vaccines as causes. VHP of color more often agreed with accident or injury, environmental pollution, their own general stress, and their own emotional state as causes. Future work should examine this phenomenon in larger, diverse samples to further understand differences across specific racial/ethnic groups. LAY SUMMARY : Some parents of children with autism spectrum disorder (ASD) are vaccine hesitant, meaning they have concerns about vaccine safety and may delay/refuse vaccines. We examined possible racial/ethnic differences related to how common vaccine hesitancy is and which causes of ASD were typically endorsed among a sample of caregivers in the SPARK cohort (Simons Foundation Powering Autism Research for Knowledge). Higher proportions of parents of color were vaccine hesitant, and all vaccine-hesitant parents agreed that "toxins in vaccines" were a cause of their child’s ASD.

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6. Cheng N, Pagtalunan E, Abushaibah A, Naidu J, Stell WK, Rho JM, Sauvé Y. Atypical visual processing in a mouse model of autism. Sci Rep ;2020 (Jul 24) ;10(1):12390.

Human social cognition relies heavily on the processing of various visual cues, such as eye contact and facial expressions. Atypical visual perception and integration have been recognized as key phenotypes in individuals diagnosed with autism spectrum disorder (ASD), and may potentially contribute to impediments in normal social development, a hallmark of ASD. Meanwhile, increasing studies on visual function in ASD have pointed to detail-oriented perception, which has been hypothesized to result from heightened response to information of high spatial frequency. However, mixed results of human studies have led to much debate, and investigations using animal models have been limited. Here, using BTBR mice as a model of idiopathic ASD, we assessed retinal stimulus processing by full-field electroretinogram and found impaired photoreceptor function and retina-based alterations mostly in the cone pathway. Using the optokinetic reflex to evaluate visual function, we observed robustly enhanced visual response to finer spatial details and more subtle contrasts at only higher spatial frequencies in the BTBR mice, under both photopic and scotopic conditions. These behavioral results, which are similar to findings in a subset of ASD patients, indicate a bias toward processing information of high spatial frequencies. Together, these findings also suggest that, while enhancement of visual behaviors under both photopic and scotopic conditions might be due to alterations in visual processing common to both rod and cone pathways, these mechanisms are probably downstream of photoreceptor function.

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7. Deng X, Yao T, Wang Y, Yang G, Chen W, Huang P, Chen Z. Transcatheter closure of a residual shunt with posteroinferior deficient rim after surgical closure of an ASD : a case report. BMC Cardiovasc Disord ;2020 (Jul 22) ;20(1):343.

BACKGROUND : There are few reports in the literature of device closure of residual shunts following initial surgical closure of an atrial septal defect (ASD). This case study reports one such case. We describe here a case of secundum type ASD that was initially closed surgically, followed by device closure of a residual shunt with a posteroinferior deficient rim. CASE PRESENTATION : A 7-month-old boy was admitted to our hospital for elective surgery to surgically correct a secundum type ASD. Unfortunately, a residual shunt 3.5 mm in diameter appeared before discharge and was enlarged at1-year follow-up. The cause of this residual shunt was dehiscence at the posteroinferior aspect, and the posteroinferior rim was 3.7 mm. After careful discussion and preparation, we proceeded with an interventional procedure. A 16 mm ASD occluder (AGA Medical Corp, Plymouth, Minnesota) was deployed successfully with no residual shunt. In some cases of ASD, interventional therapy is not considered due to the size and position of the defect, but we show here, a successful case of interventional therapy for a residual shunt with a deficient rim. CONCLUSION : We have presented a case in which a postoperative residual shunt with a deficient rim was successfully closed with interventional therapy.

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8. Dickson KS, Aarons GA, Anthony LG, Kenworthy L, Crandal BR, Williams K, Brookman-Frazee L. Adaption and pilot implementation of an autism executive functioning intervention in children’s mental health services : a mixed-methods study protocol. Pilot Feasibility Stud ;2020 ;6:55.

BACKGROUND : Youth with autism spectrum disorder (ASD) represent a growing population with significant service needs. Prominent among these needs are high rates of co-occurring psychiatric conditions that contribute to increased functional impairments and often necessitate mental health services. Executive functioning deficits are associated with ASD as well as common co-occurring conditions (e.g., attention-deficit/hyperactivity disorder) and an evidence-based intervention has been developed and tested to address executive functioning within the school context. There is an urgent need to implement indicated evidence-based interventions for youth with ASD receiving care in community mental health settings. Interventions that optimally "fit" the mental health services context as well as the complex and co-occurring mental health needs of these youth have the potential to improve key clinical outcomes for this high priority population. METHODS : This mixed-methods developmental study will apply the Exploration, Preparation, Implementation, Sustainment implementation framework and a community-academic partnership approach to systematically adapt and test an evidence-based executive functioning intervention for youth with ASD for delivery in community mental health settings. Specific aims are to (1) conduct a need and context assessment to inform the systematic adaptation an executive functioning evidence-based intervention ; (2) systematically adapt the clinical intervention and develop a corresponding implementation plan, together entitled "Executive Functioning for Enhancing Community-based Treatment for ASD," (EFFECT for ASD) ; and (3) conduct a feasibility pilot test of EFFECT for ASD in community mental health settings. DISCUSSION : Tailoring evidence-based interventions for delivery in community-based mental health services for youth with ASD has the potential to increase quality of care and improve child outcomes. Results from the current study will serve as the foundation for large-scale hybrid implementation and effectiveness trials and a generalizable approach for different service systems of care and clinical populations. TRIAL REGISTRATION :, NCT04295512.

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9. Egebjerg J, Morris RGM. Awards for research on Rett syndrome : towards a therapeutic breakthrough. Lancet Neurol ;2020 (Aug) ;19(8):639-640.

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10. Garrido D, Carballo G, Ortega E, García-Retamero R. [Psychological adaptation in children with autism spectrum disorder and its effect on family quality of life]. Rev Neurol ;2020 (Aug 16) ;71(4):127-133.

INTRODUCTION : In most children with autism spectrum disorder (ASD), other difficulties that do not fall within the diagnostic criteria arose, and could have an impact on family quality of life. Previous research has shown several relationships among these variables and family quality of life, however results are contradictories. AIM : To examine the role of psychological adaptation (including emotional symptoms, behavioral problems, hyperactivity, problems with peers, and prosocial behavior) in children with ASD and typical development, and its impact on family quality of life. SUBJECTS AND METHODS : Twenty-four families of children with ASD (level 1 of support) and 25 families of children with typical development between 6 and 13 years old. We have considered diagnosis of Asperger syndrome (following DSM-IV-TR) with ASD-level 1 of support (following DSM-5). We have evaluated intelligence, vocabulary, adaptive behavior, and family quality of life. RESULTS : We have found significant differences in those variables related to psychological adaptation, and in some components of the family quality of life (family interaction, physical and emotional wellbeing). In our regression model, prosocial behaviors and the group were the main predictors of satisfaction on family quality of life. CONCLUSION : It is important to pay attention to the prosocial behaviors in ASD due to its potential protective effect.

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11. Hidema S, Kikuchi S, Takata R, Yanai T, Shimomura K, Horie K, Nishimori K. Single administration of resveratrol improves social behavior in adult mouse models of autism spectrum disorder. Biosci Biotechnol Biochem ;2020 (Jul 22):1-8.

Resveratrol (RSV) is a natural polyphenol present in grapes, the skin of peanuts, and several other plants with many health benefits. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that may be linked to neural and synaptic development impairments. The present study aimed to analyze the preventive effects of RSV on the development of ASD-like behavior, using oxytocin receptor gene knockout (Oxtr-KO) and valproic acid-induced ASD (VPA-ASD) model mice. Genetic deficiencies in Oxtr are suggested to be involved in ASD etiology. Twenty-four hours after a single RSV injection to the Oxtr-KO mice, the social impairments caused by OXTR deficiency were ameliorated. RSV also improved social impairments in the VPA-ASD mice. Administration of RSV up-regulated silent information regulator 1 (Sirt1) gene and early growth response factor 3 (Egr3) gene expressions in the amygdala of the Oxtr-KO mice. Our data suggest that RSV may have therapeutic effects on ASD with multiple targets.

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12. Lopez CM, Kovler ML, Jelin EB. Case report of extreme gastric distention and perforation with pathologic Sarcina ventriculi colonization and Rett syndrome. Int J Surg Case Rep ;2020 (Jul 15) ;73:210-212.

Here we describe a case of a 15-year-old child with Rett syndrome who presented with extreme gastric distension and fatal perforation in the setting of long-standing aerophagia and pathologic colonization with Sarcina ventriculi, a rare bacteria implicated in gastric perforation. This is the first report of gastric perforation associated with colonization by Sarcina in a patient with pathologic aerophagia. Gastric colonization with Sarcina should be considered in intellectually disabled children with pathologic air swallowing who present with severe gastric dilation and/or perforation.

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13. Novelli G, Novelli A, Borgiani P, Cocciadiferro D, Biancolella M, Agolini E, Pietrosanto M, Casalone R, Helmer-Citterich M, Giardina E, Jain SK, Wei W, Eng C, Pandolfi PP. WWP1 germline variants are associated with normocephalic autism spectrum disorder. Cell Death Dis ;2020 (Jul 23) ;11(7):529.

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14. Romani PW, Ariefdjohan M, Jensen Gaffey LL, Torres-Dominguez M, Lister J. Relations between patient and staff member characteristics and staff member injury on a psychiatric inpatient unit for children with intellectual or developmental disabilities. J Child Adolesc Psychiatr Nurs ;2020 (Jul 23)

PROBLEM : Staff member injuries are a pervasive and long-standing problem for psychiatric inpatient units. METHOD : The current study analyzed the prevalence of staff member injury and characteristics of patients that injured staff on a specialized psychiatric unit for children with intellectual or developmental disabilities. We evaluated staffing patterns as well as characteristics of patients (e.g., diagnoses, body mass index) between 2016 and 2018. This time period was selected because it represented an approximately equal period before and after the introduction of a new clinical model that incorporated applied behavior analysis (ABA) and other safety-related practices (e.g., personal protective equipment). FINDINGS : During this study period, there were 110 cases of staff injuries caused by 42 patients. Injuries were most likely to occur during physical management of a patient engaging in aggressive behavior, but less so when strategies requiring less physical contact were implemented. The frequency of staff injury was also significantly related to patients’ diagnoses, particularly those exhibiting aggressive behavior and diagnosed with moderate-to-severe intellectual disability and/or autism spectrum disorder. CONCLUSIONS : Robust staff training incorporating the principles of ABA and the provision of other safety-related resources can be integrated to clinical guidelines to promote the safety of staff practicing in psychiatric inpatient units.

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15. Saleh MA, Hanapiah FA, Hashim H. Robot applications for autism : a comprehensive review. Disabil Rehabil Assist Technol ;2020 (Jul 24):1-23.

PURPOSE : Technological advances in robotics have brought about exciting developments in different areas such as education, training, and therapy. Recent research has suggested that the robot can be even more effective in rehabilitation, therapy, and education for individuals with Autism Spectrum Disorder (ASD). In this paper, a comprehensive review of robotic technology for children with ASD is presented wherein a large number of journals and conference proceedings in science and engineering search engines’ databases were implicated. MATERIALS AND METHODS : A search for related literature was conducted in three search engines’ databases, Web of Science, Scopus, and IEEE Xplore. Thematic keywords were used to identify articles in the recent ten years in titles, keywords, and abstracts. The retrieved articles were filtered, analysed, and evaluated based on specific inclusion and exclusion criteria. RESULTS : A total of 208 studies were retrieved, while 166 met the inclusion criteria. The selected studies were reviewed according to the type of robot, the participants, objectives, and methods. 68 robots were used in all studies, NAO robot was used in 30.5% of those studies. The total number of participants in all studies was 1671. The highest percentage of the studies reviewed were dedicated to augmenting the learning skills. CONCLUSIONS : Robots and the associated schemes were used to determine their feasibility and validity for augmenting the learning skills of autistic children. Most of the studies reviewed were focused on improving the social communication skills of autistic children and measuring the extent of robot mitigation of stereotyped autistic behaviours. Implications for rehabilitation Social robots are not considered as promising tools to be utilized for rehabilitation of autistic children only, but also has been used for children and young people with severe intellectual disability. Rehabilitation for individuals with ASD using robots can augment their cognitive and social skills, but further studies should be conducted to clarify its effectiveness based on other factors such as sex, age and IQ of the participates. Robotic-based rehabilitation is not limited to the physical robots only, but virtual robots have been used also, whereas each of which can be used individually or simultaneously. However, further study is required to assess the extent of its efficiency and effectiveness for both cases.

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16. Sandweiss AJ, Brandt VL, Zoghbi HY. Advances in understanding of Rett syndrome and MECP2 duplication syndrome : prospects for future therapies. Lancet Neurol ;2020 (Aug) ;19(8):689-698.

The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome. Research on the mechanisms by which MeCP2 exerts effects on gene expression in neurons, studies of animal models bearing different disease-causing mutations, and more in-depth observations of clinical presentations have clarified some issues even as they have raised further questions. Yet there is enough evidence so far to suggest possible approaches to therapy for these two diseases that could go beyond attempting to address specific signs and symptoms (of which there are many) and instead target the pathophysiology underlying MECP2 disorders. Further work could bring antisense oligonucleotides, deep brain stimulation, and gene therapy into the clinic within the next decade or so.

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17. Talbott MR, Miller MR. Future Directions for Infant Identification and Intervention for Autism Spectrum Disorder from a Transdiagnostic Perspective. J Clin Child Adolesc Psychol ;2020 (Jul 23):1-15.

By the time they are typically detected, neurodevelopmental disorders like autism spectrum disorder (ASD) are already challenging to treat. Preventive and early intervention strategies in infancy are critical for improving outcomes over the lifespan with significant cost savings. However, the impact of prevention and early intervention efforts is dependent upon our ability to identify infants most appropriate for such interventions. Because there may be significant overlap between prodromal symptoms across neurodevelopmental disorders and child psychopathology more broadly which may wax and wane across development, we contend that the impact of prevention and early intervention efforts will be heightened by identifying early indicators that may overlap across ASD and other commonly co-occurring disorders. This paper summarizes the existing literature on infant symptoms and identification of ASD to demonstrate the ways in which a transdiagnostic perspective could expand the impact of early identification and intervention research and clinical efforts, and to outline suggestions for future empirical research programs addressing current gaps in the identification-to-treatment pipeline. We propose four recommendations for future research that are both grounded in developmental and clinical science and that are scalable for early intervention systems : (1) development of fine-grained, norm-referenced measures of ASD-relevant transdiagnostic behavioral domains ; (2) identification of shared and distinct mechanisms influencing the transition from risk to disorder ; (3) determination of key cross-cutting treatment strategies (both novel and extracted from existing approaches) effective in targeting specific domains across disorders ; and (4) integration of identified measures and treatments into existing service systems.

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18. Zheng S, Chua YC, Tang C, Tan GM, Abdin E, Lim VWQ, Koh AS, Verma S, Magiati I. Autistic traits in first-episode psychosis : Rates and association with 1-year recovery outcomes. Early Interv Psychiatry ;2020 (Jul 24)

AIM : There is a growing appreciation that subthreshold but clinically elevated levels of autistic traits are clinically relevant. This study examined autistic traits in Singaporean patients with first-episode psychosis and their association with 1-year psychosis recovery. METHODS : The relationship between baseline patient characteristics, autistic traits (measured with autism screening questionnaires) and psychosis recovery outcomes at 1-year were examined in 180 adults in the Early Intervention Psychosis Programme in Singapore. RESULTS : Out of 180 participants, 50 (27.8%) had clinically elevated above screening-cut off levels of autistic traits on the self-reported 10-item Autism Spectrum Quotient and 8 (4.4%) on the staff-rated Autism Spectrum Disorder in Adults Screening Questionnaire. At baseline, those with more autistic traits were more likely to be unemployed, economically inactive (ie, students or homemakers) ; and to have diagnoses of mood disorder with psychotic features, brief psychotic disorder or psychotic disorder not otherwise specified as compared to schizophrenia spectrum and delusional disorder diagnoses. Although most participants showed improvements in their clinical outcomes at 1-year, those with higher autistic traits improved less in the Positive and Negative Syndrome Scale general psychopathology scale and in Global Assessment of Functioning symptomatology. CONCLUSIONS : Autistic traits are common in those with first-episode psychosis and may be associated with poorer clinical outcomes. Validated screening tools should be developed in this population to support earlier reporting.

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