Pubmed du 26/09/20

samedi 26 septembre 2020

1. Aleo S, Milani D, Pansa A, Marchisio P, Guerneri S, Silipigni R. Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5. Am J Med Genet A ;2020 (Sep 25)

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2. Arthur T, Vine S, Brosnan M, Buckingham G. Predictive sensorimotor control in autism. Brain ;2020 (Sep 25)

Autism spectrum disorder has been characterized by atypicalities in how predictions and sensory information are processed in the brain. To shed light on this relationship in the context of sensorimotor control, we assessed prediction-related measures of cognition, perception, gaze and motor functioning in a large general population (n = 92 ; Experiment 1) and in clinically diagnosed autistic participants (n = 29 ; Experiment 2). In both experiments perception and action were strongly driven by prior expectations of object weight, with large items typically predicted to weigh more than equally-weighted smaller ones. Interestingly, these predictive action models were used comparably at a sensorimotor level in both autistic and neurotypical individuals with varying levels of autistic-like traits. Specifically, initial fingertip force profiles and resulting action kinematics were both scaled according to participants’ pre-lift heaviness estimates, and generic visual sampling behaviours were notably consistent across groups. These results suggest that the weighting of prior information is not chronically underweighted in autism, as proposed by simple Bayesian accounts of the disorder. Instead, our results cautiously implicate context-sensitive processing mechanisms, such as precision modulation and hierarchical volatility inference. Together, these findings present novel implications for both future scientific investigations and the autism community.

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3. Babu PRK, Lahiri U. Multiplayer Interaction Platform with Gaze Tracking for Individuals with Autism. IEEE Trans Neural Syst Rehabil Eng ;2020 (Sep 25) ;Pp

Deficits in interpersonal communication along with difficulty in putting oneself into the shoes of others characterizes individuals with Autism Spectrum Disorder (ASD). Additionally, they exhibit atypical looking pattern causing them to miss aspects related to understanding other’s preference for a context that is crucial for effective social communication. Prior research studies show the use of multiplayer platforms can improve interaction among these individuals. However, these multiplayer platforms do not demand players to understand each other’s preference, important for effective social interaction. In this work, we have developed a multiplayer interaction platform using virtual reality augmented with eye-tracking technology. Thirty-six participants comprising of individuals with ASD (n=18 ; GroupASD) and typically developing (TD) individuals (n=18 ; GroupTD) interacted in pairs within each participant group using our platform. Results indicate that both GroupASD and GroupTD showed improvement in performance across the tasks with the GroupTD performing better than the GroupASD. Additionally, the eye-gaze data indicated an underlying relationship between one’s looking pattern and task performance that was differentiated between the GroupASD and GroupTD. The current results indicate a potential of our multiplayer interaction platform to serve as a complementary tool in the hands of the interventionist promoting social reciprocity and interaction among individuals with ASD.

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4. Cantin-Garside KD, Nussbaum MA, White SW, Kim S, Kim CD, Fortes DMG, Valdez RS. Understanding the experiences of self-injurious behavior in autism spectrum disorder : Implications for monitoring technology design. J Am Med Inform Assoc ;2020 (Sep 24)

OBJECTIVE : Monitoring technology may assist in managing self-injurious behavior (SIB), a pervasive concern in autism spectrum disorder (ASD). Affiliated stakeholder perspectives should be considered to design effective and accepted SIB monitoring methods. We examined caregiver experiences to generate design guidance for SIB monitoring technology. MATERIALS AND METHODS : Twenty-three educators and 16 parents of individuals with ASD and SIB completed interviews or focus groups to discuss needs related to monitoring SIB and associated technology use. RESULTS : Qualitative content analysis of participant responses revealed 7 main themes associated with SIB and technology : triggers, emotional responses, SIB characteristics, management approaches, caregiver impact, child/student impact, and sensory/technology preferences. DISCUSSION : The derived themes indicated areas of emphasis for design at the intersection of monitoring and SIB. Systems design at this intersection should consider the range of manifestations of and management approaches for SIB. It should also attend to interactions among children with SIB, their caregivers, and the technology. Design should prioritize the transferability of physical technology and behavioral data as well as the safety, durability, and sensory implications of technology. CONCLUSIONS : The collected stakeholder perspectives provide preliminary groundwork for an SIB monitoring system responsive to needs as articulated by caregivers. Technology design based on this groundwork should follow an iterative process that meaningfully engages caregivers and individuals with SIB in naturalistic settings.

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5. Chakraborty P, Carpenter KLH, Major S, Deaver M, Vermeer S, Herold B, Franz L, Howard J, Dawson G. Gastrointestinal problems are associated with increased repetitive behaviors but not social communication difficulties in young children with autism spectrum disorders. Autism ;2020 (Sep 24):1362361320959503.

Individuals with autism spectrum disorder are more likely than typically developing individuals to experience a range of gastrointestinal abnormalities, including chronic diarrhea, constipation, food sensitivities, and abdominal pain. These gastrointestinal symptoms have been associated with higher levels of irritability and aggressive behavior, but less is known about their relationship with core autism spectrum disorder symptoms. We investigated the relationship between autism spectrum disorder symptom severity and gastrointestinal symptoms while accounting for three associated behavioral symptom domains (Irritability, Aggressiveness, and Specific Fears), in a sample of 176 children (140 males and 36 females) ages 2-7 years old with autism spectrum disorder. A large majority (93.2%) of the sample had at least one reported gastrointestinal symptom, and most (88.1%) participants had more than one gastrointestinal symptom. Various types of gastrointestinal symptoms were reported ; the most common symptoms reported were constipation, food limits, gas/bloating, and stomach pain. After accounting for each associated behavioral symptom domain, repetitive behaviors and stereotypies were significantly associated with gastrointestinal symptom severity. Increased severity of autism spectrum disorder symptoms was correlated with increased gastrointestinal symptom severity. Social and communication difficulties were not significantly associated with gastrointestinal symptom severity after accounting for associated behavioral symptoms. Our findings replicate a previously described association between irritability and aggression and gastrointestinal symptoms. Furthermore, we found that repetitive behaviors, but not social or communication symptoms, are associated with gastrointestinal symptom severity, even after accounting for associated behavioral symptoms. This suggests that gastrointestinal symptoms may exacerbate repetitive behaviors, or vice versa, independent from other associated behavioral symptoms.

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6. Christensen D, Zubler J. CE : From the CDC : Understanding Autism Spectrum Disorder. Am J Nurs ;2020 (Oct) ;120(10):30-37.

Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typical pattern of child development, and produces chronic signs and symptoms that usually manifest in early childhood and have potential long-term consequences. In past decades, autism was conceptualized as a strictly defined set of behaviors, usually accompanied by intellectual impairment. Today, it is recognized as a spectrum, ranging from mild to severe, in which behaviors vary substantially and the majority of children who fall on the spectrum have average to above average intellectual ability. Here, the authors discuss the risk factors for ASD, its epidemiology, common concurrent conditions, evaluation, diagnosis, treatments, and outcomes.

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7. Cremone-Caira A, Trier K, Sanchez V, Kohn B, Gilbert R, Faja S. Inhibition in developmental disorders : A comparison of inhibition profiles between children with autism spectrum disorder, attention-deficit/hyperactivity disorder, and comorbid symptom presentation. Autism ;2020 (Sep 24):1362361320955107.

Many children with autism spectrum disorder (ASD) also have symptoms of attention-deficit hyperactivity disorder (ADHD). Children with ASD and ADHD often experience difficulties with inhibition. This study had the goal of understanding inhibition in children with ASD, ADHD, ASD + ADHD, and children who are typically developing (TD) using tasks that measured several aspects of inhibition. Results indicate that children with ASD + ADHD had greater difficulty inhibiting behavioral responses than TD children. Children with ASD + ADHD also differed from children with ASD and with ADHD in their inhibition of distracting information and strategic slowing of response speed. The four groups did not differ in their avoidance of potential losses. Children with ASD + ADHD exhibit a unique profile of inhibition challenges suggesting they may benefit from targeted intervention matched to their abilities.

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8. Donati G, Davis R, Forrester GS. Author Correction : Gaze behaviour to lateral face stimuli in infants who do and do not receive an ASD diagnosis. Sci Rep ;2020 (Sep 24) ;10(1):16033.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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9. Ferrari E, Bosco P, Calderoni S, Oliva P, Palumbo L, Spera G, Fantacci ME, Retico A. Dealing with confounders and outliers in classification medical studies : The Autism Spectrum Disorders case study. Artif Intell Med ;2020 (Aug) ;108:101926.

Machine learning (ML) approaches have been widely applied to medical data in order to find reliable classifiers to improve diagnosis and detect candidate biomarkers of a disease. However, as a powerful, multivariate, data-driven approach, ML can be misled by biases and outliers in the training set, finding sample-dependent classification patterns. This phenomenon often occurs in biomedical applications in which, due to the scarcity of the data, combined with their heterogeneous nature and complex acquisition process, outliers and biases are very common. In this work we present a new workflow for biomedical research based on ML approaches, that maximizes the generalizability of the classification. This workflow is based on the adoption of two data selection tools : an autoencoder to identify the outliers and the Confounding Index, to understand which characteristics of the sample can mislead classification. As a study-case we adopt the controversial research about extracting brain structural biomarkers of Autism Spectrum Disorders (ASD) from magnetic resonance images. A classifier trained on a dataset composed by 86 subjects, selected using this framework, obtained an area under the receiver operating characteristic curve of 0.79. The feature pattern identified by this classifier is still able to capture the mean differences between the ASD and Typically Developing Control classes on 1460 new subjects in the same age range of the training set, thus providing new insights on the brain characteristics of ASD. In this work, we show that the proposed workflow allows to find generalizable patterns even if the dataset is limited, while skipping the two mentioned steps and using a larger but not well designed training set would have produced a sample-dependent classifier.

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10. Gowen E, Jachim S, Subri S, Dickinson C, Hamblin-Pyke B, Warren PA. Collinear facilitation and contour integration in autistic adults : Examining lateral and feedback connectivity. Vision Res ;2020 (Sep 22) ;177:56-67.

Alongside difficulties with communication and social interaction, autism is often accompanied by unusual sensory and perceptual experiences including enhanced visual performance on tasks that involve separating local parts from global context. This superiority may be the result of atypical integrative processing, involving feedback and lateral connections between visual neurons. The current study investigated the integrity of these connections in autistic adults by examining two psychophysics tasks that rely on these processes - collinear facilitation and contour integration. The relative contribution of feedback and lateral connectivity was studied by altering the timing of the target relative to the flankers in the collinear facilitation task, in 16 autistic and 16 non-autistic adults. There were no significant differences in facilitation between the autistic and non-autistic groups, indicating that for this task and participant sample, lateral and feedback connectivity appear relatively intact in autistic individuals. Contour integration was examined in a different group of 20 autistic and 18 non-autistic individuals, for open and closed contours to assess the closure effect (improved detection of closed compared to open contours). Autistic individuals showed a reduced closure effect at both short (150 ms) and longer (500 ms) stimulus presentation durations that was driven by better performance of the autistic group for the open contours. These results suggest that reduced closure in a simple contour detection paradigm is unlikely to be due to slower global processing. Reduced closure has implications for understanding sensory overload by contributing to reduced figure-ground segregation of salient visual features.

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11. Huang R, Shen R, Xu SQ. Factor Structure and Psychometric Properties of the Family Quality of Life Questionnaire for Children With Developmental Disabilities in China. Front Psychol ;2020 ;11:1585.

The purpose of this study was to explore the factor structure and psychometric properties of the Chinese version of Family Quality of Life Questionnaire (Chinese FQoL-Q) for children with developmental disabilities (CDD) under the background of Chinese culture. The item analysis, exploratory factor analysis, confirmatory factor analysis, and reliability test were carried out on survey data from a sample of 845 families of CDD. It was found that the Chinese FQoL-Q involved seven factors with 35 items, including economy and leisure, physical and mental health, parenting, family communication, support from others, professional support, and career development. The measurement model of Chinese FQoL-Q reflected traditional Chinese culture and parents’ perception of education or rehabilitation for CDD in China. The Chinese FQoL-Q is reliable and valid for assessing the quality of life for family members with developmental disabilities.

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12. Janowski MJ. 1.5 CE Test Hours : From the CDC : Understanding Autism Spectrum Disorder. Am J Nurs ;2020 (Oct) ;120(10):38.

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13. Kim H, Ahn J, Lee H, Ha S, Cheon KA. Differences in Language Ability and Emotional-Behavioral Problems according to Symptom Severity in Children with Autism Spectrum Disorder. Yonsei Med J ;2020 (Oct) ;61(10):880-890.

PURPOSE : The aim of this study was to investigate differences in language ability and emotional-behavioral problems according to the severity of social communication impairments (SCI) and restricted and repetitive behaviors (RRB) in children with autism spectrum disorders (ASD). MATERIALS AND METHODS : We grouped 113 children with ASD aged 3-12 years according to the severity of SCI and RRB, and investigated language differences and emotional-behavioral problems among the severity groups. If differences in language abilities between the groups were observed, they were further subdivided to examine possible predictors of both receptive and expressive language abilities. RESULTS : In cluster analyses using subdomains of the Autism Diagnostic Interview-revised, severe SCI individuals showed lower language ability than their milder counterparts, while RRB showed no differences. Receptive and expressive language in the severe SCI group was negatively predicted by social communication and social motivation, respectively. The severe RRB group showed significantly higher levels of anxiety/distress, somatic complaints, thought problems, attention problems, and aggressive behavior, while the severe SCI group was reported to be more withdrawn. CONCLUSION : The results of this study suggest that the severity of SCI greatly affects language ability. In children with severe SCI, social communication and social motivation negatively predicted receptive language and expressive language, respectively. Children with severe RRB may have more emotional-behavioral problems that require active intervention.

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14. Li Y, Qiu S, Shi J, Guo Y, Li Z, Cheng Y, Liu Y. Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders : a meta-analysis. BMC Pediatr ;2020 (Sep 24) ;20(1):449.

BACKGROUND : Autism spectrum disorder (ASD) is becoming increasingly prevalent of late. Methylenetetrahydrofolate reductase (MTHFR) has a significant role in folate metabolism. Owing to the inconsistencies and inconclusiveness on the association between MTHFR single nucleotide polymorphism (SNP) and ASD susceptibilities, a meta-analysis was conducted to settle the inconsistencies. METHODS : For this meta-analysis, a total of 15 manuscripts published up to January 26, 2020, were selected from PubMed, Google Scholar, Medline, WangFang, and CNKI databases using search terms "MTHFR" OR "methylenetetrahydrofolate reductase" AND "ASD" OR "Autism Spectrum Disorders" OR "Autism" AND "polymorphism" OR "susceptibility" OR "C677T" OR "A1298C". RESULTS : The findings of the meta-analysis indicated that MTHFR C677T polymorphism is remarkably associated with ASD in the five genetic models, viz., allelic, dominant, recessive, heterozygote, and homozygote. However, the MTHFR A1298C polymorphism was not found to be significantly related to ASD in the five genetic models. Subgroup analyses revealed significant associations of ASD with the MTHFR (C677T and A1298C) polymorphism. Sensitivity analysis showed that this meta-analysis was stable and reliable. No publication bias was identified in the associations between MTHFRC677T polymorphisms and ASD in the five genetic models, except for the one with regard to the associations between MTHFRA1298C polymorphisms and ASD in the five genetic models. CONCLUSION : This meta-analysis showed that MTHFR C677T polymorphism is a susceptibility factor for ASD, and MTHFR A1298C polymorphism is not associated with ASD susceptibility.

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15. Miller LE, Dai YG, Fein DA, Robins DL. Characteristics of toddlers with early versus later diagnosis of autism spectrum disorder. Autism ;2020 (Sep 26):1362361320959507.

The emergence of autism symptoms in childhood is variable, with some children showing signs of autism spectrum disorder very early, and others not being identified until much later. Although most children in the United States are not diagnosed with autism spectrum disorder until preschool, at ages 3-4 years, symptoms can be reliably detected at 14 months. It is less certain how those toddlers diagnosed with autism spectrum disorder earlier versus later differ from each other clinically. This study revealed that young children diagnosed later in development, between ages 25 and 41 months, are more impaired on measures of cognitive, adaptive, and social functioning than their counterparts who are diagnosed with autism spectrum disorder earlier. All young children with autism spectrum disorder are impaired in communication to a similar degree, however. Universal autism screening at 18 months may identify toddlers with autism spectrum disorder when their symptoms are milder and more readily amenable to intervention. Repeated screening at 24 months is supported to detect those children missed by an earlier screening, who may be more severely affected. Caregivers should be encouraged to pursue diagnostic evaluation at an initial positive screening result to ensure timely diagnosis and treatment.

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16. Panzer AR, Lynch SV. Gut Microbial Regulation of Autism Spectrum Disorder Symptoms. Trends Endocrinol Metab ;2020 (Sep 21)

Relationships between gut microbiome perturbation and autism spectrum disorder (ASD) have been observed in several human studies, but the functional implications and molecular mechanisms by which microbes may influence disease symptomology remain enigmatic. A recently published study by Sharon et al. offers evidence that the gut microbiome has a causative role in ASD and highlights the importance of early-life gut microbial metabolites in shaping mammalian behavior.

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17. Pejhan S, Del Bigio MR, Rastegar M. The MeCP2E1/E2-BDNF-miR132 Homeostasis Regulatory Network Is Region-Dependent in the Human Brain and Is Impaired in Rett Syndrome Patients. Front Cell Dev Biol ;2020 ;8:763.

Rett Syndrome (RTT) is a rare and progressive neurodevelopmental disorder that is caused by de novo mutations in the X-linked Methyl CpG binding protein 2 (MECP2) gene and is subjected to X-chromosome inactivation. RTT is commonly associated with neurological regression, autistic features, motor control impairment, seizures, loss of speech and purposeful hand movements, mainly affecting females. Different animal and cellular model systems have tremendously contributed to our current knowledge about MeCP2 and RTT. However, the majority of these findings remain unexamined in the brain of RTT patients. Based on previous studies in rodent brains, the highly conserved neuronal microRNA "miR132" was suggested to be an inhibitor of MeCP2 expression. The neuronal miR132 itself is induced by Brain Derived Neurotrophic Factor (BDNF), a neurotransmitter modulator, which in turn is controlled by MeCP2. This makes the basis of the MECP2-BDNF-miR132 feedback regulatory loop in the brain. Here, we studied the components of this feedback regulatory network in humans, and its possible impairment in the brain of RTT patients. In this regard, we evaluated the transcript and protein levels of MECP2/MeCP2E1 and E2 isoforms, BDNF/BDNF, and miR132 (both 3p and 5p strands) by real time RT-PCR, Western blot, and ELISA in four different regions of the human RTT brains and their age-, post-mortem delay-, and sex-matched controls. The transcript level of the studied elements was significantly compromised in RTT patients, even though the change was not identical in different parts of the brain. Our data indicates that MeCP2E1/E2-BDNF protein levels did not follow their corresponding transcript trends. Correlational studies suggested that the MECP2E1/E2-BDNF-miR132 homeostasis regulation might not be similarly controlled in different parts of the human brain. Despite challenges in evaluating autopsy samples in rare diseases, our findings would help to shed some light on RTT pathobiology, and obscurities caused by limited studies on MeCP2 regulation in the human brain.

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18. Rahaman MA, Lopa M, Uddin KMF, Baqui MA, Keya SP, Faruk MO, Sarker S, Basiruzzaman M, Islam M, AlBanna A, Jahan N, Chowdhury M, Saha N, Hussain M, Colombi C, O’Rielly D, Woodbury-Smith M, Ghaziuddin M, Rahman MM, Uddin M. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Sep 25)

This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum disorder (ASD). A totally of 283 children who were referred for screening and administered Module 1 of the Autism Diagnostic Observation Schedule (ADOS) were included. Overall, 209 met the ADOS algorithmic cutoff for ASD. A trend for greater weight and head circumference was observed in children with ASD versus non-ASD. Head circumference was significantly (p < 0.03) larger in ASD males compared with non-ASD males. A trend was also observed for symptom severity, higher in females than males (p = 0.068), with further analyses demonstrating that social reciprocity (p < 0.014) and functional play (p < 0.03) were significantly more impaired in ASD females than males. The findings help understand sex differences in ASD.

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