Pubmed du 16/07/19

mardi 16 juillet 2019

1. Bottema-Beutel K, Malloy C, Cuda J, Kim SY, MacEvoy JP. Friendship Expectations May be Similar for Mental Age-Matched Children with Autism Spectrum Disorder and Typically Developing Children. J Autism Dev Disord ;2019 (Jul 13)

We assessed 3rd-5th grade children’s endorsement of 12 friendship expectations, in two mental age-matched (M = 10.15 years) groups ; one with autism spectrum disorder (ASD ; n = 20) and one with typical development (TD ; n = 21). Groups rated friendship expectations similarly for all but one expectation, expressing care, which received significantly higher ratings in the ASD group. Overall expectation ratings were significantly and positively correlated with friendship quality in the ASD group (r = 0.43), but not the TD, group (r = 0.08). Expectations were not correlated with loneliness or self-worth in either group. In children with ASD, expectations pertaining to reliability/trust, kindness/caring, and help/reciprocity were rated highest, followed by togetherness/amusement, and finally by intimacy/disclosure.

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2. Lam M, Moslem M, Bryois J, Pronk RJ, Uhlin E, Ellstrom ID, Laan L, Olive J, Morse R, Ronnholm H, Louhivuori L, Korol SV, Dahl N, Uhlen P, Anderlid BM, Kele M, Sullivan PF, Falk A. Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. Exp Cell Res ;2019 (Jul 11)

We generated human iPS derived neural stem cells and differentiated cells from healthy control individuals and an individual with autism spectrum disorder carrying bi-allelic NRXN1-alpha deletion. We investigated the expression of NRXN1-alpha during neural induction and neural differentiation and observed a pivotal role for NRXN1-alpha during early neural induction and neuronal differentiation. Single cell RNA-seq pinpointed neural stem cells carrying NRXN1-alpha deletion shifting towards radial glia-like cell identity and revealed higher proportion of differentiated astroglia. Furthermore, neuronal cells carrying NRXN1-alpha deletion were identified as immature by single cell RNA-seq analysis, displayed significant depression in calcium signaling activity and presented impaired maturation action potential profile in neurons investigated with electrophysiology. Our observations propose NRXN1-alpha plays an important role for the efficient establishment of neural stem cells, in neuronal differentiation and in maturation of functional excitatory neuronal cells.

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3. Martinez A, Tobe R, Dias EC, Ardekani BA, Veenstra-VanderWeele J, Patel G, Breland M, Lieval A, Silipo G, Javitt DC. Differential Patterns of Visual Sensory Alteration Underlying Face Emotion Recognition Impairment and Motion Perception Deficits in Schizophrenia and Autism Spectrum Disorder. Biol Psychiatry ;2019 (May 29)

BACKGROUND : Impaired face emotion recognition (FER) and abnormal motion processing are core features in schizophrenia (SZ) and autism spectrum disorder (ASD) that have been linked to atypical activity within the visual cortex. Despite overlaps, only a few studies have directly explored convergent versus divergent neural mechanisms of altered visual processing in ASD and SZ. We employed a multimodal imaging approach to evaluate FER and motion perception in relation to functioning of subcortical and cortical visual regions. METHODS : Subjects were 20 high-functioning adults with ASD, 19 patients with SZ, and 17 control participants. Behavioral measures of coherent motion sensitivity and FER along with electrophysiological and functional magnetic resonance imaging measures of visual pattern and motion processing were obtained. Resting-state functional magnetic resonance imaging was used to assess the relationship between corticocortical and thalamocortical connectivity and atypical visual processing. RESULTS : SZ and ASD participants had intercorrelated deficits in FER and motion sensitivity. In both groups, reduced motion sensitivity was associated with reduced functional magnetic resonance imaging activation in the occipitotemporal cortex and lower delta-band electroencephalogram power. In ASD, FER deficits correlated with hyperactivation of dorsal stream regions and increased evoked theta power. Activation of the pulvinar correlated with abnormal alpha-band modulation in SZ and ASD with under- and overmodulation, respectively, predicting increased clinical symptoms in both groups. CONCLUSIONS : SZ and ASD participants showed equivalent deficits in FER and motion sensitivity but markedly different profiles of physiological dysfunction. The specific pattern of deficits observed in each group may help guide development of treatments designed to downregulate versus upregulate visual processing within the respective clinical groups.

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4. Meguid NA, Bjorklund G, Gebril OH, Dosa MD, Anwar M, Elsaeid A, Gaber A, Chirumbolo S. The role of zinc supplementation on the metallothionein system in children with autism spectrum disorder. Acta Neurol Belg ;2019 (Jul 13)

The present research was carried out to elucidate the role of zinc (Zn) supplementation on the plasma concentration and gene expression, as well as the effects on cognitive-motor performance, in a cohort of children with autism spectrum disorder (ASD). The study was performed on a cohort of 30 pediatric subjects with ASD, encompassing an age range of 3-8 years. The impact of Zn supplementation was investigated in 3 months (or 12 weeks) on the ASD children. Each daily dosage of Zn was calculated as being equal to the body weight in kg plus 15-20 mg. The effect of Zn was also evaluated on the serum level of metallothionein 1 (MT-1A), and the severity of autism via scores on the Childhood Autism Rating Scale. The effect of Zn was investigated on the gene expression of MT1-A before and after Zn supplementation. The data of the present study showed an increase in cognitive-motor performance and an increased serum metallothionein concentration, as well as a significant lowering in the circulating serum levels of copper (Cu) following Zn supplementation. In the cohort of ASD patients, the genetic expression of MT-1 was higher after Zn therapy than before the treatment. In conclusion, Zn supplementation might be an important factor in the treatment of children with ASD.

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5. Melvin CL, Langdon PE, Murphy GH. "I feel that if I didn’t come to it anymore, maybe I would go back to my old ways and I don’t want that to happen" : Adapted sex offender treatment programmes : Views of service users with autism spectrum disorders. J Appl Res Intellect Disabil ;2019 (Jul 14)

BACKGROUND : The cognitive and behavioural profile associated with autism spectrum disorders (ASD) includes difficulties with social interaction, communication and empathy. Each of these may present barriers to effective participation in sexual offending treatment, leading to poorer outcomes. METHOD : Semi-structured interviews were conducted with 13 men with autism and an intellectual disability (including the borderline range) who had completed an adapted sex offender treatment programme. Grounded Theory was used to explore the men’s experiences of treatment and perceptions of risk. RESULTS : The men’s perceptions of sexual risk were inextricably linked to constructs of identity and shaped their opinions of treatment effectiveness. Risk of reoffending was conveyed through narratives of changes in self and circumstances and included notions of blame and culpability. CONCLUSIONS : The findings illustrated some clear benefits for men with ASD associated with attending adapted sex offender treatment programmes, including delivery of treatment within groups and opportunities for social development. The study supports the view that difficulties with empathy and cognitive flexibility complicates treatment for sexual offending.

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6. O’Neill T, Wilkinson KM, Light J. Preliminary investigation of visual attention to complex AAC visual scene displays in individuals with and without developmental disabilities. Augment Altern Commun ;2019 (Jul 15):1-11.

Visual scene displays (VSDs) are one type of augmentative and alternative communication (AAC) display in which an integrated scene (typically a photograph) presents people engaged in shared activities, with "hotspots" for the concepts embedded within. Most AAC displays are more complex than a single VSD, and also contain a navigation bar. This preliminary study examined visual attention to these more complex AAC displays by participants with autism spectrum disorder (ASD) (n = 13), Down syndrome (n = 13), intellectual and developmental disabilities other than Down syndrome or ASD (n = 9), and preschoolers with typical development (n = 20). Participants viewed images that simulated complex AAC displays containing a main VSD and a navigation bar with thumbnail VSDs arranged in one of four locations (top, bottom, left, or right). Both the main VSD and the navigation bar attracted attention, with participants across groups looking at both elements more than expected based on the space those elements occupied within the display. Within the main VSD, participants spent more time fixating on the meaningful elements (i.e., children and shared activity) compared to the background. Results suggested that gaze patterns to the meaningful elements of the main VSD were influenced by the location of the navigation bar. The finding that bar location may influence visual attention patterns makes it an important AAC system design factor that warrants additional research.

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7. Egger HL, Dawson G, Hashemi J, Carpenter KLH, Espinosa S, Campbell K, Brotkin S, Schaich-Borg J, Qiu Q, Tepper M, Baker JP, Bloomfield RA, Jr., Sapiro G. Automatic emotion and attention analysis of young children at home : a ResearchKit autism feasibility study. NPJ Digit Med ;2018 ;1:20.

Current tools for objectively measuring young children’s observed behaviors are expensive, time-consuming, and require extensive training and professional administration. The lack of scalable, reliable, and validated tools impacts access to evidence-based knowledge and limits our capacity to collect population-level data in non-clinical settings. To address this gap, we developed mobile technology to collect videos of young children while they watched movies designed to elicit autism-related behaviors and then used automatic behavioral coding of these videos to quantify children’s emotions and behaviors. We present results from our iPhone study Autism & Beyond, built on ResearchKit’s open-source platform. The entire study-from an e-Consent process to stimuli presentation and data collection-was conducted within an iPhone-based app available in the Apple Store. Over 1 year, 1756 families with children aged 12-72 months old participated in the study, completing 5618 caregiver-reported surveys and uploading 4441 videos recorded in the child’s natural settings. Usable data were collected on 87.6% of the uploaded videos. Automatic coding identified significant differences in emotion and attention by age, sex, and autism risk status. This study demonstrates the acceptability of an app-based tool to caregivers, their willingness to upload videos of their children, the feasibility of caregiver-collected data in the home, and the application of automatic behavioral encoding to quantify emotions and attention variables that are clinically meaningful and may be refined to screen children for autism and developmental disorders outside of clinical settings. This technology has the potential to transform how we screen and monitor children’s development.

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8. Daniels J, Schwartz JN, Voss C, Haber N, Fazel A, Kline A, Washington P, Feinstein C, Winograd T, Wall DP. Exploratory study examining the at-home feasibility of a wearable tool for social-affective learning in children with autism. NPJ Digit Med ;2018 ;1:32.

Although standard behavioral interventions for autism spectrum disorder (ASD) are effective therapies for social deficits, they face criticism for being time-intensive and overdependent on specialists. Earlier starting age of therapy is a strong predictor of later success, but waitlists for therapies can be 18 months long. To address these complications, we developed Superpower Glass, a machine-learning-assisted software system that runs on Google Glass and an Android smartphone, designed for use during social interactions. This pilot exploratory study examines our prototype tool’s potential for social-affective learning for children with autism. We sent our tool home with 14 families and assessed changes from intake to conclusion through the Social Responsiveness Scale (SRS-2), a facial affect recognition task (EGG), and qualitative parent reports. A repeated-measures one-way ANOVA demonstrated a decrease in SRS-2 total scores by an average 7.14 points (F(1,13) = 33.20, p = <.001, higher scores indicate higher ASD severity). EGG scores also increased by an average 9.55 correct responses (F(1,10) = 11.89, p = <.01). Parents reported increased eye contact and greater social acuity. This feasibility study supports using mobile technologies for potential therapeutic purposes.

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9. Jones RM, Tarpey T, Hamo A, Carberry C, Lord C. Smartphone measures of day-to-day behavior changes in children with autism. NPJ Digit Med ;2018 ;1:34.

Smartphones offer a flexible tool to collect data about mental health, but less is known about their effectiveness as a method to assess variability in children’s problem behaviors. Caregivers of children with autism completed daily questions about irritability, anxiety and mood delivered via smartphones across 8-weeks. Smartphone questions were consistent with subscales on standard caregiver questionnaires. Data collection from 7 to 10 days at the beginning and 7 to 10 days at the end of the study were sufficient to capture similar amounts of variance as daily data across 8-weeks. Other significant findings included effects of caregiver socioeconomic status and placebo-like effects from participation even though the study included no specific treatment. Nevertheless, single questions via smartphones collected over relatively brief periods reliably represent subdomains in standardized behavioral questionnaires, thereby decreasing burden on caregivers.

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10. The Lancet N. A plan for fragile X syndrome with wide-ranging consequences. Lancet Neurol ;2019 (Aug) ;18(8):709.

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11. Bellon-Harn ML, Manchaiah V, Morris LR. A cross-sectional descriptive analysis of portrayal of autism spectrum disorders in YouTube videos : A short report. Autism ;2019 (Jul 13):1362361319864222.

Professionals have expressed concerns about the quality of autism-related information available from Internet-based sources. The purpose of this study was to examine the source, content, usability, and actionability of autism spectrum disorder-related information contained in 100 different videos directed to families of children with autism spectrum disorder uploaded to YouTube. Upload sources were identified, and video content was coded. Understandability and actionability of the videos were examined using Patient Education Materials Assessment Tool for Audiovisual Materials. The collective number of views of the videos was almost 100 million. The length of videos was 691.17 min (i.e. 11.5 h) with the shortest video being 30 s and the longest video being 37.36 min. The YouTube videos related to autism spectrum disorder covered a range of issues, although much of the content was focused on signs and symptoms. No difference in content reporting was noted based on sources for most categories, although differences were noted in some categories (e.g. professionals mentioned diagnosis and resources more frequently). Poor understandability and actionability scores (i.e. below 70%) were reported for all videos regardless of video source. However, the videos generated by the professionals were superior in terms of understandability. Study implications and recommendations for further research are discussed.

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12. Weksler-Derri D, Shwed U, Davidovitch N. Ethical Challenges in Participatory Research With Autistic Adults in Israel. J Empir Res Hum Res Ethics ;2019 (Jul 13):1556264619858524.

Contemporary calls for participatory research raise unique ethical questions. Our semi-participatory mixed-methodology study of the needs of autistic adults in Israel utilized an advisory committee of autistic persons. This article discusses three fundamental ethical issues that emerged in the study. First, employing formal diagnosis and legal guardian approval as inclusion criteria may result in the unjust exclusion of self-diagnosed autistics and those who are cognitively able to consent and participate. Second, adopting a participatory research approach does not in itself guarantee participatory justice ; the representation of diverse groups from the community must be ensured. Finally, regarding autism spectrum disorder (ASD) as a medical diagnosis requires indisputable confidentiality which may conflict with the personal choice to waive anonymity and be recognized by name. Researchers and ethical committees should take these ethical challenges into account when conducting and reviewing studies with and about autistic adults.

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