1. {{Correction: Prevalence of mental health conditions, sensory impairments and physical disability in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland}}. {BMJ Open}. 2020; 10(7): e035280corr1.
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2. Abrahamson V, Zhang W, Wilson P, Farr W, Male I. {{Realist Evaluation of Autism ServiCe Delivery (RE-ASCeD): which diagnostic pathways work best, for whom and in what context? Protocol for a rapid realist review}}. {BMJ Open}. 2020; 10(7): e037846.
INTRODUCTION: The National Health Service (NHS) Long-Term Plan (2019) acknowledges that children and young people with suspected autism wait too long for diagnostic assessment and sets out to reduce waiting times. However, diagnostic pathways vary with limited evidence on what model works best, for whom and in what circumstances. The National Autism Plan for Children (2003) recommended that assessment should be completed within 13 weeks but referral to diagnosis can take as long as 799 days.This Rapid Realist Review (RRR) is the first work package in a national programme of research: a Realist Evaluation of Autism ServiCe Delivery (RE-ASCeD). We explore how particular approaches may deliver high-quality and timely autism diagnostic services for children with possible autism; high quality is defined as compliant with National Institute for Heath and Care Excellence (2011) guidelines, and timely as a pathway lasting no more than one calendar year, based on previous work. METHODS AND ANALYSIS: RRR is a well-established approach to synthesising evidence within a compressed timeframe to identify models of service delivery leading to desired outcomes. RRR works backwards from intended outcomes, identified by NICE guidelines and the NHS England Long-Term Plan. The focus is a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within a particular set of parameters (Autism and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group consists of policymakers, content experts and knowledge users with a wide range of experience to supplement, tailor and expedite the process. The RRR is consistent with Realist And Meta-narrative Evidence Syntheses: Evolving Standards (RAMESES) and includes identifying the research question, searching for information, quality appraisal, data extraction, synthesising the evidence, validation of findings with experts and dissemination. ETHICS AND DISSEMINATION: Ethical approval not required. Findings will inform the wider RE-ASCeD evaluation and be reported to NHS England. TRIAL REGISTRATION NUMBER: NCT04422483. This protocol relates to Pre-results.
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3. Adams SN, Dadabhay A, Neille J. {{An Exploration into Mothers’ Experiences of Feeding Children with Autism Spectrum Disorder in South Africa}}. {Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP)}. 2020: 1-10.
OBJECTIVES: To explore the experiences of mothers feeding their children with autism spectrum disorder (ASD) in South Africa as well as to better understand the impact of context and culture on feeding disorders. PARTICIPANTS AND METHODS: A qualitative research design was employed. Seven mothers of 8 children (1 mother had twins), aged 4-9 years, who were diagnosed with ASD and who had associated feeding difficulties participated in the study. Semi-structured interviews were conducted, and data were transcribed and analysed using inductive thematic analysis. RESULTS: Findings indicated that children with ASD and feeding difficulties increase parental stress and anxiety. Novel findings pertaining to context and culture showed the negative impact feeding difficulties have on the siblings, the role taken on by the mother as the caregiver and the provider, and an additional financial burden associated with feeding a child with ASD. CONCLUSIONS: Findings add to the field of speech therapy by providing awareness of the challenges experienced by these mothers as well as those that are unique to the South African context. In addition, the current study provides insight into the experiences of mothers from different contexts and cultural backgrounds to those reported in previous literature.
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4. Baribeau DA, Vigod S, Pullenayegum E, Kerns CM, Mirenda P, Smith IM, Vaillancourt T, Volden J, Waddell C, Zwaigenbaum L, Bennett T, Duku E, Elsabbagh M, Georgiades S, Ungar WJ, Zaidman Zait A, Szatmari P. {{Co-occurring trajectories of anxiety and insistence on sameness behaviour in autism spectrum disorder}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-8.
BACKGROUND: Children with autism spectrum disorder (ASD) have increased susceptibility to anxiety disorders. Variation in a common ASD symptom, insistence on sameness behaviour, may predict future anxiety symptoms. AIMS: To describe the joint heterogeneous longitudinal trajectories of insistence on sameness and anxiety in children with ASD and to characterise subgroups at higher risk for anxiety. METHOD: In a longitudinal ASD cohort (n = 421), insistence on sameness behaviour was measured using the Autism Diagnostic Interview-Revised at approximately ages 3, 6 and 11 years. Anxiety was quantified at 8 time points between ages 3 and 11 years using the Child Behavior Checklist (CBCL) (parent report). Clusters of participants following similar trajectories were identified using group-based and joint trajectory modelling. RESULTS: Three insistence on sameness trajectories were identified: (a) ‘low-stable’ (41.7% of participants), (b) ‘moderate-increasing’ (52.0%) and (c) ‘high-peaking’ (i.e. increasing then stabilising/decreasing behaviour) (6.3%). Four anxiety trajectories were identified: (a) ‘low-increasing’ (51.0%), (b) ‘moderate-decreasing’ (16.2%), (c) ‘moderate-increasing’ (19.6%) and (d) ‘high-stable’ (13.1%). Of those assigned to the ‘high-peaking’ insistence on sameness trajectory, 95% jointly followed an anxiety trajectory that surpassed the threshold for clinical concern (T-score >65) by middle childhood (anxiety trajectories 3 or 4). Insistence on sameness and anxiety trajectories were similar in severity and direction for 64% of the sample; for 36%, incongruous patterns were seen (e.g. decreasing anxiety and increasing insistence on sameness). CONCLUSIONS: The concurrent assessment of insistence on sameness behaviour and anxiety in ASD may help in understanding current symptom profiles and anticipating future trajectories. High preschool insistence on sameness in particular may be associated with elevated current or future anxiety symptoms.
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5. Barzy M, Ferguson HJ, Williams DM. {{Perspective influences eye movements during real-life conversation: Mentalising about self versus others in autism}}. {Autism}. 2020: 1362361320936820.
Previous lab-based studies suggest that autistic individuals are less attentive to social aspects of their environment. In our study, we recorded the eye movements of autistic and typically developing adults while they engaged in a real-life social interaction with a partner. Results showed that autistic adults were less likely than typically developing adults to look at the experimenter’s face, and instead were more likely to look at the background. Moreover, the perspective that was adopted in the conversation (talking about self versus others) modulated the patterns of eye movements in autistic and non-autistic adults. Overall, people spent less time looking at their conversation partner’s eyes and face and more time looking at the background, when talking about an unfamiliar other compared to when talking about themselves. This pattern was magnified among autistic adults. We conclude that allocating attention to social information during conversation is cognitively effortful, but this can be mitigated when talking about a topic that is familiar to them.
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6. Borowiak K, von Kriegstein K. {{Intranasal oxytocin modulates brain responses to voice-identity recognition in typically developing individuals, but not in ASD}}. {Translational psychiatry}. 2020; 10(1): 221.
Faces and voices are prominent cues for person-identity recognition. Face recognition behavior and associated brain responses can be enhanced by intranasal administration of oxytocin. It is unknown whether oxytocin can also augment voice-identity recognition mechanisms. To find it out is particularly relevant for individuals who have difficulties recognizing voice identity such as individuals diagnosed with autism spectrum disorder (ASD). We conducted a combined behavioral and functional magnetic resonance imaging (fMRI) study to investigate voice-identity recognition following intranasal administration of oxytocin or placebo in a group of adults diagnosed with ASD (full-scale intelligence quotient > 85) and pairwise-matched typically developing (TD) controls. A single dose of 24 IU oxytocin was administered in a randomized, double-blind, placebo-controlled and cross-over design. In the control group, but not in the ASD group, administration of oxytocin compared to placebo increased responses to recognition of voice identity in contrast to speech in the right posterior superior temporal sulcus/gyrus (pSTS/G) – a region implicated in the perceptual analysis of voice-identity information. In the ASD group, the right pSTS/G responses were positively correlated with voice-identity recognition accuracy in the oxytocin condition, but not in the placebo condition. Oxytocin did not improve voice-identity recognition performance at the group level. The ASD compared to the control group had lower right pSTS/G responses to voice-identity recognition. Since ASD is known to have atypical pSTS/G, the results indicate that the potential of intranasal oxytocin to enhance mechanisms for voice-identity recognition might be variable and dependent on the functional integrity of this brain region.
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7. Brondino N, Damiani S, Politi P. {{Effective Strategies for Managing COVID-19 Emergency Restrictions for Adults with Severe ASD in a Daycare Center in Italy}}. {Brain Sci}. 2020; 10(7).
The COVID-19 pandemic has posed a serious challenge for the life and mental health of people with autism spectrum disorder (ASD). COVID-19 sanitary restrictions led to significant changes in the lives of people with ASD, including their routines; similarly, these modifications affected the daily activities of the daycare centers which they attended. The present retrospective study evaluated the impact of COVID-19 restrictions on challenging behaviors in a cohort of people with severe ASD attending a daycare center in Italy at the beginning of the pandemic. During the first two weeks of the pandemic, we did not observe variations in challenging behaviors. This suggests that adaptations used to support these individuals with ASD in adapting to the COVID-19 emergency restrictions were effective for managing their behavior.
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8. Casanova MF, Shaban M, Ghazal M, El-Baz AS, Casanova EL, Opris I, Sokhadze EM. {{Effects of Transcranial Magnetic Stimulation Therapy on Evoked and Induced Gamma Oscillations in Children with Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(7).
Autism spectrum disorder (ASD) is a behaviorally diagnosed neurodevelopmental condition of unknown pathology. Research suggests that abnormalities of elecltroencephalogram (EEG) gamma oscillations may provide a biomarker of the condition. In this study, envelope analysis of demodulated waveforms for evoked and induced gamma oscillations in response to Kanizsa figures in an oddball task were analyzed and compared in 19 ASD and 19 age/gender-matched neurotypical children. The ASD group was treated with low frequency transcranial magnetic stimulation (TMS), (1.0 Hz, 90% motor threshold, 18 weekly sessions) targeting the dorsolateral prefrontal cortex. In ASD subjects, as compared to neurotypicals, significant differences in evoked and induced gamma oscillations were evident in higher magnitude of gamma oscillations pre-TMS, especially in response to non-target cues. Recordings post-TMS treatment in ASD revealed a significant reduction of gamma responses to task-irrelevant stimuli. Participants committed fewer errors post-TMS. Behavioral questionnaires showed a decrease in irritability, hyperactivity, and repetitive behavior scores. The use of a novel metric for gamma oscillations. i.e., envelope analysis using wavelet transformation allowed for characterization of the impedance of the originating neuronal circuit. The results suggest that gamma oscillations may provide a biomarker reflective of the excitatory/inhibitory balance of the cortex and a putative outcome measure for interventions in autism.
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9. Chen YY, Chen YL, Gau SS. {{Suicidality in Children with Elevated Autistic Traits}}. {Autism Res}. 2020.
By using a nationally representative school-based sample (4,816 children aged 8-14 years), we examined the risk of suicidality in children with elevated autistic traits and assessed the mediation of anxiety/depression and moderation effects of family function and academic performance. The Chinese version of the Social Responsiveness Scale (SRS-C) was used to measure autistic features. Logistic regression models were applied to assess associations between autistic traits and suicidality (suicidal ideation, suicide plans, and suicide attempts) for estimating the mediation effects of anxiety/depression and moderation effects of academic performance and family function after adjustment for control variables. Every 10-point increase in the SRS-C score was associated with a 1.3-1.4-fold increase in suicidality risk. Associations relating to suicide plans and attempts were fully mediated; however, the association with ideation was partially mediated by anxiety/depression. Academic performance and family function did not appear to moderate associations between autistic traits and suicidality. In conclusion, children with elevated autistic traits exhibited increased risk of suicidality, which could be generally attributed to symptoms of anxiety/depression. Because adequate family function and academic performance did not mitigate the link between elevated autistic traits and suicidality, in-depth exploration into specific protective factors in children with elevated autistic traits is warranted. LAY SUMMARY: By using a nationally representative school-based sample (4,816 children aged 8-14 years), we observed that the risk of suicidality increased in children with elevated autistic traits. This association was generally explained by increased levels of anxiety/depression. Furthermore, better family function and academic performance did not appear to mitigate the link between autistic traits and suicidality.
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10. Demetriou EA, Park SH, Ho N, Pepper KL, Song YJC, Naismith SL, Thomas EE, Hickie IB, Guastella AJ. {{Machine Learning for Differential Diagnosis Between Clinical Conditions With Social Difficulty: Autism Spectrum Disorder, Early Psychosis, and Social Anxiety Disorder}}. {Frontiers in psychiatry}. 2020; 11: 545.
Differential diagnosis in adult cohorts with social difficulty is confounded by comorbid mental health conditions, common etiologies, and shared phenotypes. Identifying shared and discriminating profiles can facilitate intervention and remediation strategies. The objective of the study was to identify salient features of a composite test battery of cognitive and mood measures using a machine learning paradigm in clinical cohorts with social interaction difficulties. We recruited clinical participants who met standardized diagnostic criteria for autism spectrum disorder (ASD: n = 62), early psychosis (EP: n = 48), or social anxiety disorder (SAD: N = 83) and compared them with a neurotypical comparison group (TYP: N = 43). Using five machine-learning algorithms and repeated cross-validation, we trained and tested classification models using measures of cognitive and executive function, lower- and higher-order social cognition and mood severity. Performance metrics were the area under the curve (AUC) and Brier Scores. Sixteen features successfully differentiated between the groups. The control versus social impairment cohorts (ASD, EP, SAD) were differentiated by social cognition, visuospatial memory and mood measures. Importantly, a distinct profile cluster drawn from social cognition, visual learning, executive function and mood, distinguished the neurodevelopmental cohort (EP and ASD) from the SAD group. The mean AUC range was between 0.891 and 0.916 for social impairment versus control cohorts and, 0.729 to 0.781 for SAD vs neurodevelopmental cohorts. This is the first study that compares an extensive battery of neuropsychological and self-report measures using a machine learning protocol in clinical and neurodevelopmental cohorts characterized by social impairment. Findings are relevant for diagnostic, intervention and remediation strategies for these groups.
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11. Di Liberto D, D’Anneo A, Carlisi D, Emanuele S, De Blasio A, Calvaruso G, Giuliano M, Lauricella M. {{Brain Opioid Activity and Oxidative Injury: Different Molecular Scenarios Connecting Celiac Disease and Autistic Spectrum Disorder}}. {Brain Sci}. 2020; 10(7).
Celiac Disease (CD) is an immune-mediated disease triggered by the ingestion of wheat gliadin and related prolamins from other cereals, such as barley and rye. Immunity against these cereal-derived proteins is mediated by pro-inflammatory cytokines produced by both innate and adaptive system response in individuals unable to adequately digest them. Peptides generated in this condition are absorbed across the gut barrier, which in these patients is characterized by the deregulation of its permeability. Here, we discuss a possible correlation between CD and Autistic Spectrum Disorder (ASD) pathogenesis. ASD can be induced by an excessive and inappropriate brain opioid activity during the neonatal period. Cereal-derived peptides produced in celiac patients cross the blood-brain barrier and bind to endogenous opioid receptors interfering with neurotransmission and generating deleterious effects on brain maturation, learning and social relations. Moreover, an increase in oxidative stress and a decrease in the antioxidant capacity, as well as an extended mitochondrial impairment in the brain, could represent a possible connection between ASD and CD. Therefore, we critically discuss the proposed relationship between ASD and CD and the possible usefulness of a gluten-free diet in ASD patients.
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12. Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Palmer RF, Austin C, Curtin P, Arora M. {{Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder}}. {Translational psychiatry}. 2020; 10(1): 223.
Neurodevelopmental regression (NDR) is a subtype of autism spectrum disorder (ASD) that manifests as loss of previously acquired developmental milestones. Early life dysregulation of nutritional metals and/or exposure to toxic metals have been associated with ASD, but the underlying biological mechanisms by which metals influence neurodevelopment remain unclear. We hypothesize that metals influences neurodevelopment through dysregulation of bioenergetics. Prenatal and early postnatal metal exposures were measured using validated tooth-matrix biomarkers in 27 ASD cases (13 with NDR) and 7 typically-developing (TD) controls. Mitochondrial respiration and glycolysis were measured in peripheral blood mononuclear cells using the Seahorse XF96. Children with ASD demonstrated lower prenatal and postnatal Copper (Cu) and prenatal Nickel concentrations and Copper-to-Zinc (Cu/Zn) ratio as compared with TD children. Children with ASD and NDR showed greater metal-related disruption of cellular bioenergetics than children with ASD without NDR. For children with ASD and NDR mitochondrial respiration decreased as prenatal Manganese concentration increased and increased as prenatal Zinc concentration increased; glycolysis decreased with increased exposure to prenatal Manganese and Lead and postnatal Manganese. For children with ASD without a history of NDR, glycolysis increased with increased postnatal exposure to Tin. Language and communication scores in children with ASD were positively related to prenatal Cu exposure and Cu/Zn ratio. This study suggests that prenatal nutritional metals may be important for neurodevelopment in children with ASD, and that exposure to toxic metals and differences in nutritional metal exposures is associated with dysregulation of cellular bioenergetics, particularly in the NDR subtype of ASD.
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13. Grant JE, Chamberlain SR. {{Autistic Traits in Young Adults Who Gamble}}. {CNS spectrums}. 2020: 1-21.
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14. Hilton CL, Ratcliff K, Hong I. {{Participation Difficulties in Autism Spectrum Disorders and Intellectual Disabilities: Findings from the 2011 Survey of Pathway to Diagnosis and Services}}. {J Autism Dev Disord}. 2020.
Greater understanding can increase our knowledge and intervention effectiveness for activity participation problems of children with disabilities. We examined participation difficulties of children with autism spectrum disorders (ASD) and intellectual disabilities (ID) in the 2011 Survey of Pathway to Diagnosis and Services. We utilized propensity score matching with inverse probability of treatment weight with questions from parents of 1783 children aged 6-17 years. Friendship was the most difficult area for all children. Children with both ASD and ID experienced the most difficulty in all areas, followed by ASD alone. Reported levels of home life, friendships, classroom and leisure difficulties were moderately correlated for all children. Children who were previously diagnosed, but have no current diagnosis experienced substantial difficulties.
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15. Johnson D, Letchumanan V, Thurairajasingam S, Lee LH. {{A Revolutionizing Approach to Autism Spectrum Disorder Using the Microbiome}}. {Nutrients}. 2020; 12(7).
The study of human microbiota and health has emerged as one of the ubiquitous research pursuits in recent decades which certainly warrants the attention of both researchers and clinicians. Many health conditions have been linked to the gut microbiota which is the largest reservoir of microbes in the human body. Autism spectrum disorder (ASD) is one of the neurodevelopmental disorders which has been extensively explored in relation to gut microbiome. The utilization of microbial knowledge promises a more integrative perspective in understanding this disorder, albeit being an emerging field in research. More interestingly, oral and vaginal microbiomes, indicating possible maternal influence, have equally drawn the attention of researchers to study their potential roles in the etiopathology of ASD. Therefore, this review attempts to integrate the knowledge of microbiome and its significance in relation to ASD including the hypothetical aetiology of ASD and its commonly associated comorbidities. The microbiota-based interventions including diet, prebiotics, probiotics, antibiotics, and faecal microbial transplant (FMT) have also been explored in relation to ASD. Of these, diet and probiotics are seemingly promising breakthrough interventions in the context of ASD for lesser known side effects, feasibility and easier administration, although more studies are needed to ascertain the actual clinical efficacy of these interventions. The existing knowledge and research gaps call for a more expanded and resolute research efforts in establishing the relationship between autism and microbiomes.
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16. Kloosterboer SM, de Winter BCM, Reichart CG, Kouijzer MEJ, de Kroon MMJ, van Daalen E, Ester WA, Rieken R, Dieleman GC, van Altena D, Bartelds B, van Schaik RHN, Nasserinejad K, Hillegers MHJ, van Gelder T, Dierckx B, Koch BCP. {{Risperidone plasma concentrations are associated with side-effects and effectiveness in children and adolescents with autism spectrum disorder}}. {British journal of clinical pharmacology}. 2020.
AIM: Risperidone is the most commonly prescribed antipsychotic drug to children and adolescents worldwide, but is associated with serious side-effects, including weight gain. This study assessed the relationship of risperidone and 9-hydroxyrisperidone trough concentrations, maximum concentrations and 24-h area-under-the curves with BMI z-scores in children and adolescents with autism spectrum disorder (ASD) and behavioral problems. Secondary outcomes were metabolic, endocrine, extrapyramidal and cardiac side-effects and effectiveness. METHODS: Forty-two children and adolescents (32 males) aged 6-18 years were included in a 24 week prospective observational trial. Drug plasma concentrations, side-effects and effectiveness were measured at several time points during follow-up. Relevant pharmacokinetic covariates, including medication adherence and CYP2D6, CYP3A4, CYP3A5 and P-glycoprotein (ABCB1) genotypes, were measured. Non-linear mixed-effects modeling (NONMEM®) was used for a population pharmacokinetic analysis with 205 risperidone and 205 9-hydroxyrisperidone concentrations. Subsequently, model-based trough concentrations, maximum concentrations and 24-h area-under-the curves were analyzed to predict outcomes using generalized and linear mixed-effects models. RESULTS: A risperidone two-compartment model combined with a 9-hydroxyrisperidone one-compartment model best described the measured concentrations. Off all pharmacokinetic parameters, higher risperidone sum trough concentrations best predicted higher BMI z-scores during follow-up (p<0.001). Higher sum trough concentrations also predicted more sedation (p<0.05), higher prolactin levels (<0.001), and more effectiveness measured with ABC-irritability score (p<0.01). CONCLUSION: Our results indicate a therapeutic window exists, which suggests that therapeutic drug monitoring of risperidone might increase safety and effectiveness in children and adolescents with ASD and behavioral problems. Lien vers le texte intégral (Open Access ou abonnement)
17. Liang X, Li R, Wong SHS, Sum RKW, Sit CHP. {{Accelerometer-measured physical activity levels in children and adolescents with autism spectrum disorder: A systematic review}}. {Preventive medicine reports}. 2020; 19: 101147.
Associations between physical activity (PA) and health benefits are well documented. Evidence indicates that children and adolescents with autism spectrum disorder (ASD) are less physically active than their typically developing peers. The purpose of this systematic review is to provide a comprehensive summary of the PA levels of children and adolescents with ASD and the associated factors that affect their PA levels by applying a socio-ecological model (SEM). Seven databases (PubMed, CINAHL, SPORTDiscus with Full Text, MEDLINE, EMBASE, ERIC, and PsychINFO) were searched in June 2019 to identify studies examining accelerometer-measured PA and factors affecting the PA levels of children and adolescents with ASD, aged 6-17 years. Two researchers independently screened studies, assessed methodological quality, and summarized relevant data. Twenty-one studies were included in the detailed review. Only 42% of the participants met the PA guidelines (i.e., children and adolescents aged 5-17 years should do at least 60 min of moderate to vigorous PA daily). By applying the SEM, multi-level factors ranging from intrapersonal to community levels that positively or negatively influenced PA levels in children and adolescents with ASD were identified. This review indicates that children and adolescents with ASD have low PA levels, and that there are multi-level factors that affect their PA. There is a pressing need to design effective PA interventions that promote activity accrual in the school, family, and community settings for children and adolescents with ASD.
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18. Lin Y, Xue J, Deng J, He H, Luo S, Chen J, Li J, Yu L, Zhao J, Chen J, Allen EG, Jin P, Duan R. {{Neddylation activity modulates the neurodegeneration associated with fragile X associated tremor/ataxia syndrome (FXTAS) through regulating Sima}}. {Neurobiology of disease}. 2020: 105013.
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansion of CGG repeats in the 5′ UTR of the fragile X mental retardation 1 (FMR1) gene. Using the well-established FXTAS Drosophila model, we performed a high-throughput chemical screen using 3200 small molecules. NSC363998 was identified to suppress the neurodegeneration caused by riboCGG (rCGG) repeats. Three predicted targets of a NSC363998 derivative are isopeptidases in the neddylation pathway and could modulate the neurotoxicity caused by the rCGG repeats. Decreasing levels of neddylation resulted in enhancing neurodegeneration phenotypes, while up-regulation could rescue the phenotypes. Furthermore, known neddylation substrates, Cul3 and Vhl, and their downstream target, Sima, were found to modulate rCGG(90)-dependent neurotoxicity. Our results suggest that altered neddylation activity can modulate the rCGG repeat-mediated toxicity by regulating Sima protein levels, which could serve as a potential therapeutic target for FXTAS.
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19. McGuire K, Veenstra-VanderWeele J. {{Editorial: Important First Look at Population-Based Trajectories of Youth With Autism}}. {J Am Acad Child Adolesc Psychiatry}. 2020.
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20. Meyyazhagan A, Balasubramanian B, Kathannan S, Alagamuthu KK, Easwaran M, Shanmugam S, Pappusamy M, Bhotla HK, Mustaqahamed S, Arumugam VA, Kaul T, Keshavarao S. {{Scrutinizing the molecular, biochemical, and cytogenetic attributes in subjects with Rett syndrome (RTT) and their mothers}}. {Epilepsy Behav}. 2020; 111: 107277.
Rett syndrome (RTT) is a stern dominant progressive neurological development disorder linked with X chromosome ranking second for mental slowdown, exclusively in females after few months of birth with normal development and growth period. Genetically any defects in universally expressed methyl-CpG binding protein 2 (MeCP2) transcription regulator gene are considered as radix for RTT in almost all the previous studies. Our study mainly focuses in unraveling the genetic alterations like identifying MeCP2 gene polymorphisms, chromosomal abnormalities, or X-chromosome inactivation (XCI) as underlying cause of RTT in prototypes sorted through Diagnostic and Statistical Manual of Mental Disorders-Text Revised (DSM IV). In addition, we have examined the probable surrogates of brain function disabilities like serotonin, homocysteine (Hcy), calcium, potassium, and lead from blood in both RTT porotypes and their mothers. In our investigation, we have observed varied amino acid substitution of MeCP2 and varied frequency of skewed XCI in RTT prototype. Our study validates that the demonstration of chromosomal analysis, biochemical analysis, and genomic observations helps in concluding RTT condition and can be helpful in providing appropriate treatment and counseling as well as improve the currently available protocol of diagnosis.
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21. Oberman LM, Kaufmann WE. {{Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice}}. {Frontiers in psychiatry}. 2020; 11: 484.
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22. Pearson DA, Santos CW, Aman MG, Arnold LE, Lane DM, Loveland KA, Mansour R, Ward AR, Casat CD, Jerger S, Schachar RJ, Bukstein OG, Cleveland LA. {{Effects of Extended-Release Methylphenidate Treatment on Cognitive Task Performance in Children with Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder}}. {J Child Adolesc Psychopharmacol}. 2020.
Objective: To examine the effectiveness of four doses of psychostimulant medication, combining extended-release methylphenidate (ER-MPH) in the morning with immediate-release MPH (IR-MPH) in the afternoon, on cognitive task performance. Method: The sample comprised 24 children (19 boys and 5 girls) who met the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition Text Revision (DSM-IV-TR) criteria for an autism spectrum disorder (ASD) on the Autism Diagnostic Interview-R and the Autism Diagnostic Observation Schedule, and had significant symptoms of attention-deficit/hyperactivity disorder (ADHD). This sample consisted of elementary school-age, community-based children (mean chronological age = 8.8 years, SD = 1.7; mean intelligence quotient = 85; SD = 16.8). Effects of placebo and three dose levels of ER-MPH (containing 0.21, 0.35, and 0.48 mg/kg equivalent of IR-MPH) on cognitive task performance were compared using a within-subject, crossover, placebo-controlled design. Each of the four MPH dosing regimens (placebo, low-dose MPH, medium-dose MPH, and high-dose MPH) was administered for 1 week; the dosing order was counterbalanced across children. Results: MPH treatment was associated with significant performance gains on cognitive tasks tapping sustained attention, selective attention, and impulsivity/inhibition. Dose/response was generally linear in the dose range studied, with no evidence of deterioration in performance at higher MPH doses in the dose range studied. Conclusion: The results of this study suggest that MPH formulations are associated with significant improvements on cognitive task performance in children with ASD and ADHD.
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23. Rios PC, Scharoun Benson SM. {{Exploring Caregiver Perspectives of Social and Motor Skills in Children With Autism Spectrum Disorder and the Impact on Participation}}. {Front Psychol}. 2020; 11: 1260.
Participation is a key aspect of quality of life and is essential for children’s well-being, yet children with disabilities are at risk for lower participation in social activities. For children with autism spectrum disorder (ASD), social skills may present a significant obstacle for participation in activities of daily life; however, motor skill development may also serve an important contributing factor. Nevertheless, the link between social and motor skills in children with ASD is not fully understood. The current research implemented semistructured interviews to garner descriptive insights from caregivers (N = 17) into the social and motor skills of 5- to 9-year-old children with ASD and the impact on participation in social activities. A constant comparative method was used to generate a coherent and thematic representation of caregivers’ experiences. Thematic analysis revealed core consistencies in three areas: (1) caregivers viewed participation differently than their children; (2) participation levels of children with ASD are context specific; (3) challenges with social skills were perceived to present a greater obstacle to participation than motor skills. Overall, the notion that ASD is a heterogeneous disorder was made very apparent. Although caregivers believe there to be immense value in current treatment and intervention options, the availability and access to such options was a major barrier. The effectiveness of intervention programming designed to increase participation is contingent on understanding factors that affect participation. Implications concerning caregivers’ perspectives are discussed.
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24. Sala R, Amet L, Blagojevic-Stokic N, Shattock P, Whiteley P. {{Bridging the Gap Between Physical Health and Autism Spectrum Disorder}}. {Neuropsychiatr Dis Treat}. 2020; 16: 1605-18.
Autism spectrum disorder (ASD) is a highly complex and heterogeneous developmental disorder that affects how individuals communicate with other people and relate to the world around them. Research and clinical focus on the behavioural and cognitive manifestations of ASD, whilst important, have obscured the recognition that ASD is also commonly associated with a range of physical and mental health conditions. Many physical conditions appear with greater frequency in individuals with ASD compared to non-ASD populations. These can contribute to a worsening of social communication and behaviour, lower quality of life, higher morbidity and premature mortality. We highlight some of the key physical comorbidities affecting the immune and the gastrointestinal systems, metabolism and brain function in ASD. We discuss how healthcare professionals working with individuals with ASD and parents/carers have a duty to recognise their needs in order to improve their overall health and wellbeing, deliver equality in their healthcare experiences and reduce the likelihood of morbidity and early mortality associated with the condition.
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25. Shire SY, Shih W, Bracaglia S, Kodjoe M, Kasari C. {{Peer engagement in toddlers with autism: Community implementation of dyadic and individual Joint Attention, Symbolic Play, Engagement, and Regulation intervention}}. {Autism}. 2020: 1362361320935689.
Although young children may participate in education and intervention programs that take place in classrooms or groups, there is little information about how toddlers with special needs, and specifically toddlers with autism, are engaging with their peers. This study takes place in a public center-based early intervention program for toddlers with autism. Classrooms of toddlers were randomly assigned to an individual social communication intervention or the same intervention adapted to include a peer. Children in both groups made gains in social communication and play skills. Children who had the peer intervention were more engaged with peers when an adult was present, but not when the children were unsupported. This article adds information about early skills that may be important for children to master so that they have more success when trying to interact with their peers. These skills include understanding language (referred to as « receptive language » at 12 months or more) and play skills including building and stacking (referred to as « combination play »-for example, building with blocks or completing a puzzle) and extending familiar actions to themselves, others, and figures (referred to as « presymbolic play »-for example, putting a bottle to the doll or to themselves). Understanding which skills to target can help practitioners focus their instruction to build children’s skills toward connecting with peers through play.
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26. Wang Y, Wang J, Wu FX, Hayrat R, Liu J. {{AIMAFE: Autism spectrum disorder identification with multi-atlas deep feature representation and ensemble learning}}. {Journal of neuroscience methods}. 2020; 343: 108840.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that could cause problems in social communications. Clinically, diagnosing ASD mainly relies on behavioral criteria while this approach is not objective enough and could cause delayed diagnosis. Since functional magnetic resonance imaging (fMRI) can measure brain activity, it provides data for the study of brain dysfunction disorders and has been widely used in ASD identification. However, satisfactory accuracy for ASD identification has not been achieved. NEW METHOD: To improve the performance of ASD identification, we propose an ASD identification method based on multi-atlas deep feature representation and ensemble learning. We first calculate multiple functional connectivity based on different brain atlases from fMRI data of each subject. Then, to get the more discriminative features for ASD identification, we propose a multi-atlas deep feature representation method based on stacked denoising autoencoder (SDA). Finally, we propose multilayer perceptron (MLP) and an ensemble learning method to perform the final ASD identification task. RESULTS: Our proposed method is evaluated on 949 subjects (including 419 ASDs and 530 typical control (TCs)) from the Autism Brain Imaging Data Exchange (ABIDE) and achieves accuracy of 74.52% (sensitivity of 80.69%, specificity of 66.71%, AUC of 0.8026) for ASD identification. COMPARISON WITH EXISTING METHODS: Compared with some previously published methods, our proposed method obtains the better performance for ASD identification. CONCLUSION: The results suggest that our proposed method is efficient to improve the performance of ASD identification, and is promising for ASD clinical diagnosis.
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27. Zhang M, Jiao J, Hu X, Yang P, Huang Y, Situ M, Guo K, Cai J, Huang Y. {{Exploring the spatial working memory and visual perception in children with autism spectrum disorder and general population with high autism-like traits}}. {PLoS One}. 2020; 15(7): e0235552.
The aim of the study is to compare the spatial working memory and visual perception between children with autism spectrum disorder (ASD) and typically developing control (TDC). Furthermore, this study validated whether this impairment was a feature of autism in general population with different autism-like traits (ALTs). This study contains two parts: case-control study and community population study. The ASD group and the control group were enlisted voluntarily (ASD group, n = 52; control group, n = 32). In the population study, we recruited 2994 children. Based on the scores of Autism Spectrum Quotient (AQ), children were divided into two groups (higher ALTs n = 122, lower ALTs n = 122). The participants completed the cognition tasks focusing on spatial working memory, visual-motor integration, and Intelligence. Analysis of covariance (ANCOVA) was conducted, with potential confounders IQ, age, and gender were controlled. Pearson correlations were computed by controlling the IQ and age as covariate to better understand the relations between visual perception, spatial working memory, and autism-like traits. In the case-control study, the results of cognition tasks focusing on the spatial working memory and visual perception indicated underperformance in children with ASD. In the community population study, we found that individuals with higher ALTs performed worse than children with lower ALTs in spatial working memory. Pearson correlation analysis suggested that a correlation between SWM total errors and visual perception was identified both in the children with ASD and in community population (ASD group, r = -0.592, p<0.001; general population, r = -0.201, p = 0.003). It suggested that spatial working memory deficit was a characteristic of autism, and may be distributed across the general population. Furthermore, we speculated a correlation between spatial working memory and visual perception in children with ASD and in general population. Lien vers le texte intégral (Open Access ou abonnement)
