Pubmed du 13/05/20

mercredi 13 mai 2020

1. Bangerter A, Chatterjee M, Manfredonia J, Manyakov NV, Ness S, Boice MA, Skalkin A, Goodwin MS, Dawson G, Hendren R, Leventhal B, Shic F, Pandina G. Automated recognition of spontaneous facial expression in individuals with autism spectrum disorder : parsing response variability. Mol Autism. 2020 ; 11(1) : 31.

BACKGROUND : Reduction or differences in facial expression are a core diagnostic feature of autism spectrum disorder (ASD), yet evidence regarding the extent of this discrepancy is limited and inconsistent. Use of automated facial expression detection technology enables accurate and efficient tracking of facial expressions that has potential to identify individual response differences. METHODS : Children and adults with ASD (N = 124) and typically developing (TD, N = 41) were shown short clips of "funny videos." Using automated facial analysis software, we investigated differences between ASD and TD groups and within the ASD group in evidence of facial action unit (AU) activation related to the expression of positive facial expression, in particular, a smile. RESULTS : Individuals with ASD on average showed less evidence of facial AUs (AU12, AU6) relating to positive facial expression, compared to the TD group (p < .05, r = - 0.17). Using Gaussian mixture model for clustering, we identified two distinct distributions within the ASD group, which were then compared to the TD group. One subgroup (n = 35), termed "over-responsive," expressed more intense positive facial expressions in response to the videos than the TD group (p < .001, r = 0.31). The second subgroup (n = 89), ("under-responsive"), displayed fewer, less intense positive facial expressions in response to videos than the TD group (p < .001 ; r = - 0.36). The over-responsive subgroup differed from the under-responsive subgroup in age and caregiver-reported impulsivity (p < .05, r = 0.21). Reduced expression in the under-responsive, but not the over-responsive group, was related to caregiver-reported social withdrawal (p < .01, r = - 0.3). LIMITATIONS : This exploratory study does not account for multiple comparisons, and future work will have to ascertain the strength and reproducibility of all results. Reduced displays of positive facial expressions do not mean individuals with ASD do not experience positive emotions. CONCLUSIONS : Individuals with ASD differed from the TD group in their facial expressions of positive emotion in response to "funny videos." Identification of subgroups based on response may help in parsing heterogeneity in ASD and enable targeting of treatment based on subtypes. TRIAL REGISTRATION :, NCT02299700. Registration date : November 24, 2014.

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2. Bertelli MO, Salvador-Carulla L, Munir KM, Scattoni ML, Azeem MW, Javed A. Intellectual developmental disorder and autism spectrum disorder in the WPA next triennium mainstream. World psychiatry : official journal of the World Psychiatric Association (WPA). 2020 ; 19(2) : 260.

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3. Cadieux L, Keenan M. Can Social Communication Skills for Children Diagnosed With Autism Spectrum Disorder Rehearsed Inside the Video Game Environment of Minecraft Generalize to the Real World ?. JMIR serious games. 2020 ; 8(2) : e14369.

In this paper, we outline opportunities within the video game environment for building skills applicable to real-world issues faced by some children. The game Minecraft is extremely popular and of particular interest to children diagnosed with autism spectrum disorder. Although the game has been used by support communities to facilitate the social interaction of children and peer support for their parents, little has been done to examine how social skills developed within the game environment generalize to the real world. Social Craft aims to establish a framework in which key social communication skills would be rehearsed in-game with a view to facilitating their replication in a similarly contained real-world environment. Central to this approach is an understanding of the basic principles of behavior and the engagement of a sound methodology for the collection of data inside and outside the respective environments.

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4. Chu SY, Park H, Lee J, Shaharuddin KKB, Gan CH. Self-stigma and its associations with stress and quality of life among Malaysian parents of children with autism. Child Care Health Dev. 2020.

BACKGROUND : This study explored the relationship between self-perceived stigmatisation (affiliate stigma), stress, and quality of life among parents of children with Autism Spectrum Disorder (ASD). METHOD : Participants (N = 110) filled-in the Affiliate Stigma Scale, the Caregiver Burden Inventory, and the CarerQOL scale. RESULTS : Parents reported low scores on stigma and fair levels of stress and quality of life, indicating that parents do not feel stigmatised by affiliation with a child with ASD nor are they stressed from affiliate stigma. After controlling for demographic factors, both the relationships of affiliate stigma with stress and with quality of life were weak, indicating that stigma may have little to no effect on stress and quality of life. CONCLUSION : Cultural and religious beliefs may play a part in the acceptance of a child’s condition resulting in less impact of stigma on the parents.

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5. Culotta L, Penzes P. Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD. Mol Autism. 2020 ; 11(1) : 32.

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by impaired social interaction and communication, and repetitive or restricted behaviors. ASD subjects exhibit complex genetic and clinical heterogeneity, thus hindering the discovery of pathophysiological mechanisms. Considering that several ASD-risk genes encode proteins involved in the regulation of synaptic plasticity, neuronal excitability, and neuronal connectivity, one hypothesis that has emerged is that ASD arises from a disruption of the neuronal network activity due to perturbation of the synaptic excitation and inhibition (E/I) balance. The development of induced pluripotent stem cell (iPSC) technology and recent advances in neuronal differentiation techniques provide a unique opportunity to model complex neuronal connectivity and to test the E/I hypothesis of ASD in human-based models. Here, we aim to review the latest advances in studying the different cellular and molecular mechanisms contributing to E/I balance using iPSC-based in vitro models of ASD.

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6. Dias CM, Walsh CA. Recent Advances in Understanding the Genetic Architecture of Autism. Annual review of genomics and human genetics. 2020.

Recent advances in understanding the genetic architecture of autism spectrum disorder have allowed for unprecedented insight into its biological underpinnings. New studies have elucidated the contributions of a variety of forms of genetic variation to autism susceptibility. While the roles of de novo copy number variants and single-nucleotide variants-causing loss-of-function or missense changes-have been increasingly recognized and refined, mosaic single-nucleotide variants have been implicated more recently in some cases. Moreover, inherited variants (including common variants) and, more recently, rare recessive inherited variants have come into greater focus. Finally, noncoding variants-both inherited and de novo-have been firmly implicated in the last few years. This work has revealed a convergence of diverse genetic drivers on common biological pathways and has highlighted the ongoing importance of increasing sample size and experimental innovation. Continuing to synthesize these genetic findings with functional and phenotypic evidence and translating these discoveries to clinical care remain considerable challenges for the field. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 21 is August 31, 2020. Please see for revised estimates.

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7. Donnelly LJ, Cervantes PE, Okparaeke E, Stein CR, Filton B, Kuriakose S, Havens J, Horwitz SM. Staff Perceptions and Implementation Fidelity of an Autism Spectrum Disorder Care Pathway on a Child/Adolescent General Psychiatric Inpatient Service. J Autism Dev Disord. 2020.

While youth with autism spectrum disorder (ASD) are psychiatrically hospitalized at high rates, general psychiatric settings are not designed to meet their unique needs. Previous evaluations of an ASD-Care Pathway (ASD-CP) on a general psychiatric unit revealed sustained reductions in crisis interventions (intramuscular medication use, holds/restraints ; Cervantes et al. in J Autism Dev Disord 49(8):3173-3180,, 2019 ; Kuriakose et al. in J Autism Dev Disord 48(12):4082-4089,, 2018). The current study investigated staff perceptions of the ASD-CP (N = 30), and examined rates of ASD-CP implementation fidelity in relation to patient outcomes (N = 28). Staff identified visual communication aids and reward strategies as most helpful. The number of days of reward identification early in the inpatient stay was associated with fewer crisis interventions later in a patient’s stay.

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8. Glod M, Riby DM, Rodgers J. Sensory processing profiles and autistic symptoms as predictive factors in autism spectrum disorder and Williams syndrome. J Intellect Disabil Res. 2020.

BACKGROUND : Unusual sensory responses were included in the diagnostic criteria for autism spectrum disorder (ASD), yet they are also common among individuals with other neurodevelopmental disorders, including Williams syndrome (WS). Cross-syndrome comparisons of sensory atypicalities and the evaluation of their syndrome specificity however have rarely been undertaken. We aimed to (1) examine and compare the sensory profiles in ASD and WS groups and (2) investigate whether autistic symptoms, including sensory processing scores, can predict a group membership. METHODS : Parents of 26 children with ASD and intellectual disability, 30 parents of children with ASD (no intellectual disability) and 26 with WS aged between 4 and 16 years were recruited. Parents completed the Sensory Profile to provide information about their children’s sensory experiences and the Social Responsiveness Scale - Second Edition (SRS-2) to assess the degree of social impairment in their children. RESULTS : No significant differences were found in sensory processing scores between the three groups. Binary logistic regression analyses were undertaken with sensory quadrants and SRS-2 total score as factors. Models significantly predicted group membership, with Low Registration, Sensory Sensitivity and SRS-2 total score being significant predictors. CONCLUSIONS : The findings suggest that high rates of sensory atypicalities are a common neurodevelopmental characteristic that do not reliably distinguish between WS and ASD groups. Low Registration and Sensory Sensitivity-related behaviours might, however, be more specific to ASD. Further work is needed to explore what behaviours within sensory profiles can discriminate between neurodevelopmental disorders and should be included in diagnostic classifications.

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9. Marsack-Topolewski CN. Quality of Life among Compound Caregivers and Noncompound Caregivers of Adults with Autism. Journal of gerontological social work. 2020 : 1-13.

Children diagnosed with autism spectrum disorder (ASD) are reaching adulthood and require some form of lifelong care. Many parents continue caring for their adult children with ASD for as long as physically possible. As parents age, many also may provide care for another loved one, such a spouse or parent. This study compares compound (those providing care for multiple loved ones) and noncompound parental caregivers (those providing care solely for an adult child with ASD) on six dimensions of quality of life (enjoys life, life is meaningful, ability to concentrate, accepts bodily appearance, satisfied with self, and frequency of negative feelings). Specifically, this study determined the extent to which compound and noncompound caregivers’ quality of life differed. The present study included 320 parents (age 50 or older) of adult children (18 or older) diagnosed with ASD who completed a web-based survey. T-tests for independent samples compared the six dimensions and overall quality of life between compound and noncompound caregivers. Results indicated that compound caregivers were less able to concentrate and had fewer negative feelings than noncompound caregivers. Further research is needed to determine the effects of caregiving on the multidimensional aspects of quality of life.

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10. McDaniel J, Yoder P, Estes A, Rogers SJ. Predicting Expressive Language From Early Vocalizations in Young Children With Autism Spectrum Disorder : Which Vocal Measure Is Best ?. Journal of speech, language, and hearing research : JSLHR. 2020 : 1-12.

Purpose This study was designed to test the incremental validity of more expensive vocal development variables relative to less expensive variables for predicting later expressive language in children with autism spectrum disorder (ASD). We devote particular attention to the added value of coding the quality of vocalizations over the quantity of vocalizations because coding quality adds expense to the coding process. We are also interested in the added value of more costly human-coded vocal variables relative to those generated through automated analyses. Method Eighty-seven children with ASD aged 13-30 months at study initiation participated. For quantity of vocalizations, we derived one variable from human coding of brief communication samples and one from an automated process for daylong naturalistic audio samples. For quality of vocalizations, we derived four human-coded variables and one automated variable. A composite expressive language measure was derived at study entry, and 6 and 12 months later. The 12 months-centered intercept of a simple linear growth trajectory was used to quantify later expressive language. Results When statistically controlling for human-coded or automated quantity of vocalization variables, human-coded quality of vocalization variables exhibited incremental validity for predicting later expressive language skills. Human-coded vocal variables also predicted later expressive language skills when controlling for the analogous automated vocal variables. Conclusion In sum, these findings support devoting resources to human coding of the quality of vocalizations from communication samples to predict later expressive language skills in young children with ASD despite the greater costs of deriving these variables. Supplemental Material

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11. Moreno-De-Luca D, Kavanaugh BC, Best CR, Sheinkopf SJ, Phornphutkul C, Morrow EM. Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample. JAMA Psychiatry. 2020.

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12. Ribeiro MC, Moore SM, Kishi N, Macklis JD, MacDonald JL. Vitamin D supplementation rescues aberrant NF-kappaB pathway activation and partially ameliorates Rett syndrome phenotypes in Mecp2 mutant mice. eNeuro. 2020.

Rett syndrome (RTT) is a severe, progressive X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MECP2 We previously identified aberrant NF-kappaB pathway up-regulation in brains of Mecp2-null mice and demonstrated that genetically attenuating NF-kappaB rescues some characteristic neuronal RTT phenotypes. These results raised the intriguing question of whether NF-kappaB pathway inhibitors might provide a therapeutic avenue in RTT. Here, we investigate whether the known NF-kappaB pathway inhibitor vitamin D ameliorates neuronal phenotypes in Mecp2-mutant mice. Vitamin D deficiency is prevalent among RTT patients, and we find that Mecp2-null mice similarly have significantly reduced 25(OH)D serum levels compared to wildtype littermates. We identify that vitamin D rescues aberrant NF-kappaB pathway activation and reduced neurite outgrowth of Mecp2 knockdown cortical neurons in vitro Further, dietary supplementation with vitamin D in early symptomatic male Mecp2 hemizygous null and female Mecp2 heterozygous mice ameliorates reduced neocortical dendritic morphology and soma size phenotypes, and modestly improves reduced lifespan of Mecp2-nulls. These results elucidate fundamental neurobiology of RTT and provide foundation that NF-kappaB pathway inhibition might be a therapeutic target for RTT.Significance Statement There is currently no effective treatment for Rett syndrome (RTT) ; however, selectively re-expressing Mecp2 in adult mice has shown that RTT symptoms can be partially reversed, suggesting that restoration of homeostasis of downstream targets of MeCP2 could also reverse or alleviate RTT symptoms. One such potential target is the NF-kappaB pathway, which is aberrantly up-regulated in the brain of Mecp2-mutant mice. Genetically reducing NF-kappaB signaling in these mice improves neuronal phenotypes. Here, we identify that the known NF-kappaB inhibitor vitamin D reduces the aberrant NF-kappaB signaling in Mecp2 knockdown neurons, and partially ameliorates neuronal size and complexity phenotypes in both male and female Mecp2-mutant mice. Thus, this simple, cost-effective dietary supplement could contribute toward a partial therapeutic avenue in RTT.

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13. Rivera P, Renziehausen J, Garcia JM. Effects of an 8-Week Judo Program on Behaviors in Children with Autism Spectrum Disorder : A Mixed-Methods Approach. Child Psychiatry Hum Dev. 2020.

Prior studies suggest that a combination of physical activity and mind-body exercises, often seen in martial arts, may attenuate negative behaviors in youth with Autism Spectrum Disorder (ASD). Therefore, the aim of this study was to examine the effects of an 8-week judo program on behavioral factors in children with ASD, using a mixed-methods approach. A total of 25 children (ages 8-17), diagnosed with ASD, participated in an 8-week judo program (1 x week). Parents of participants were given the Aberrant Behavior Checklist (ABC) to compare the severity of ASD-related behavior at baseline and at the end of the program. A subset of parents (n = 9) participated in semi-structured interviews that focused on their child’s behaviors during the judo program. Non-parametric paired t-tests were conducted to compare differences in the ABC scores from at baseline and at the end of the program. Interviews were coded independently by two trained researchers and categorized into behavioral themes. Participants attended an average of 7.04 +/- 1.06 classes (out of 8 sessions). There were no significant changes in ABC scores, however, parent interviews revealed that 78% of parents observed improvements in both social skills and self-esteem as a result of the judo program. Despite no significant differences in ABC scores pre and post-judo, data from parent interviews indicate improvements in self-esteem and social skills. Future studies should further examine the effects of judo in a larger sample of youth with ASD, and include control conditions (e.g. no-exercise group) for comparison purposes.

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14. Shihab AI, Dawood FA, Kashmar AH. Data Analysis and Classification of Autism Spectrum Disorder Using Principal Component Analysis. Advances in bioinformatics. 2020 ; 2020 : 3407907.

Autism spectrum disorder (ASD) is an early developmental disorder characterized by mutation of enculturation associated with attention deficit disorder in the visual perception of emotional expressions. An estimated one in more than 100 people has autism. Autism affects almost four times as many boys than girls. Data analysis and classification of ASD is still challenging due to unsolved issues arising from many severity levels and range of signs and symptoms. To understanding the functions which involved in autism, neuroscience technology analyzed responses to stimuli of autistic audio and video. The study focuses on analyzing the data set of adults and children with ASD using practical component analysis method. To satisfy this aim, the proposed method consists of three main stages including : (1) data set preparation, (2) Data analysis, and (3) Unsupervised Classification. The experimental results were performed to classify adults and children with ASD. The classification results in adults give a sensitivity of 78.6% and specificity of 82.47%, while the classification results in children give a sensitivity of 87.5% and specificity of 95.7%.

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15. Short EJ, Schindler RC, Obeid R, Noeder MM, Hlavaty LE, Gross SI, Lewis B, Russ S, Manos MM. Examining the Role of Language in Play Among Children With and Without Developmental Disabilities. Language, speech, and hearing services in schools. 2020 : 1-12.

Purpose Play is a critical aspect of children’s development, and researchers have long argued that symbolic deficits in play may be diagnostic of developmental disabilities. This study examined whether deficits in play emerge as a function of developmental disabilities and whether our perceptions of play are colored by differences in language and behavioral presentations. Method Ninety-three children participated in this study (typically developing [TD] ; n = 23, developmental language disorders [DLD] ; n = 24, attention-deficit/hyperactivity disorder [ADHD] ; n = 26, and autism spectrum disorder [ASD] ; n = 20). Children were videotaped engaging in free-play. Children’s symbolic play (imagination, organization, elaboration, and comfort) was scored under conditions of both audible language and no audible language to assess diagnostic group differences in play and whether audible language impacted raters’ perception of play. Results Significant differences in play were evident across diagnostic groups. The presence of language did not alter play ratings for the TD group, but differences were found among the other diagnostic groups. When language was audible, children with DLD and ASD (but not ADHD) were scored poorly on play compared to their TD peers. When language was not audible, children with DLD were perceived to play better than when language was audible. Conversely, children with ADHD showed organizational deficits when language was not available to support their play. Finally, children with ASD demonstrated poor play performance regardless of whether language was audible or not. Conclusions Language affects our understanding of play skills in some young children. Parents, researchers, and clinicians must be careful not to underestimate or overestimate play based on language presentation. Differential skills in language have the potential to unduly influence our perceptions of play for children with developmental disabilities.

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16. Skogli EW, Andersen PN, Isaksen J. An Exploratory Study of Executive Function Development in Children with Autism, after Receiving Early Intensive Behavioral Training. Dev Neurorehabil. 2020 : 1-9.

Objective : To examine the development of executive functions, in preschool children with autism spectrum disorders (ASD), receiving early intensive behavioral training (EIBI).Method : Executive functions (EF) were assessed with The Behavior Rating Inventory of Executive Function - Preschool Version (BRIEF-P), by parents and preschool teachers at the time of diagnostic assessment and after 15 months of EIBI intervention. Ten children with ASD (M = 2.9 years, nine males) participated in the study. Reliable Change Index scores were computed for each of the participants in order to investigate any significant change in BRIEF-P T-scores.Results : Three children showed a significant improvement in EF, based on parent ratings. Four children showed a significant improvement in EF based on preschool teacher ratings.Conclusion : Findings indicating a reliable improvement in one third of preschool children with ASD receiving EIBI are encouraging but need to be replicated in larger scale controlled studies.

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17. Zhang H, Li R, Wen X, Li Q, Wu X. Altered Time-Frequency Feature in Default Mode Network of Autism Based on Improved Hilbert-Huang Transform. IEEE journal of biomedical and health informatics. 2020.

Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder characterized by restricted interests and repetitive behaviors. Non-invasive measurements of brain activity with functional magnetic resonance imaging (fMRI) have demonstrated that the abnormality in the default mode network (DMN) is a crucial neural basis of ASD, but the time-frequency characteristic of the network has not yet been revealed. Hilbert-Huang transform (HHT) is conducive to feature extraction of biomedical signals and has recently been suggested as an effective method to explore the time-frequency feature of the brain activity and mechanism. In this study, the resting-state fMRI dataset of 105 subjects including 59 ASD participants and 46 healthy control (HC) participants were involved in the original time-frequency clustering analysis based on improved HHT and modified k-means clustering with label-replacement. Compared with HC, ASD selectively showed enhanced Hilbert Weight Frequency (HWF) in high frequency bands in crucial regions of the DMN, including the medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC) and anterior cingulate cortex (ACC). Time-frequency clustering analysis revealed altered DMN organization in ASD. In the posterior DMN, the PCC and bilateral precuneus were separated for HC but clustered for ASD ; in the anterior DMN, the clusters of ACC, dorsal MPFC, and ventral MPFC were relatively scattered for ASD. This study paves a promising way to uncover the alteration in the DMN of ASD and identify a potential neuroimaging biomarker for diagnostic reference.

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