1. Anglim M, Conway EV, Barry M, Kashif M, Ackermann P, Moran A, O’Connell AS, Guerin S. {{An initial examination of the psychometric properties of the Diagnostic Instrument for Social and Communication Disorders (DISCO-11) in a clinical sample of children with a diagnosis of Autism spectrum disorder}}. {Irish journal of psychological medicine}. 2020: 1-10.
INTRODUCTION: The diagnostic interview for social and communication disorders (DISCO – 11; Wing 2006), is a semi-structured, interview-based instrument used in the diagnosis of children with autism spectrum disorder (ASD). This paper explores the psychometric properties of the DISCO-11 used in a specialist Paediatric clinical setting. Two key research questions were examined; (1) Does the factor structure of the DISCO-11 reflect the diagnostic and statistical manual 5th edition (DSM-5, American Psychiatric Association [APA], 2013) dyad of impairment in ASD? (2) Is there evidence of diagnostic stability over time using the DISCO? METHODS: Review assessments of 65 children with ASD were carried out using standardised measures including the DISCO-11 and the autism diagnostic observation schedule. RESULTS: The results revealed two factors resembling the DSM-5 algorithms, as used in DISCO-11, which were named as social-communication, and restricted and repetitive behaviours. The reliability, for the overall DISCO score was good (Cronbach’s alpha = 0.78). The social communication and social interaction subscale showed good reliability (Cronbach’s Alpha = 0.77) as did the restricted and repetitive patterns of behaviour, interests or activities subscale (Cronbach’s Alpha = 0.74). Acceptable internal reliability was found for the overall DISCO score and the subscales of social communication and social interaction and the restricted and repetitive patterns of behaviour, interests or activities. Test-retest showed good stability of diagnosis over time. DISCUSSION: This study supports that the DISCO-11 shows potential as a valid and reliable instrument that can be used both for clinical and research purposes.
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2. Bolis D, Lahnakoski J, Seidel D, Tamm J, Schilbach L. {{Interpersonal Similarity Of Autistic Traits Predicts Friendship Quality}}. {Soc Cogn Affect Neurosci}. 2020.
Autistic traits are known to be associated with social interaction difficulties. Yet, somewhat paradoxically, relevant research has been typically restricted to studying individuals. In line with the ‘dialectical misattunement hypothesis’ and clinical insights of intact social interactions amongst autistic individuals, we hypothesized that friendship quality varies as a function of interpersonal similarity and more concretely the difference value of autistic traits in a dyad, above and beyond autistic traits per se. Therefore, in this study, we used self-report questionnaires to investigate these measures in a sample of 67 neurotypical dyads across a broad range of autistic traits. Our results demonstrate that the more similar two persons are in autistic traits, the higher is the perceived quality of their friendship, irrespective of friendship duration, age, sex and importantly, the (average of) autistic traits in a given dyad. More specifically, higher interpersonal similarity of autistic traits was associated with higher measures of closeness, acceptance and help. These results, therefore, lend support to the idea of an interactive turn in the study of social abilities across the autism spectrum and pave the way for future studies on the multiscale dynamics of social interactions.
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3. Cacciante F, Gennaro M, Sagona G, Mazziotti R, Lupori L, Cerri E, Putignano E, Butt M, Do MT, McKew JC, Alessandrì MG, Battini R, Cioni G, Pizzorusso T, Baroncelli L. {{Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency}}. {Sci Rep}. 2020; 10(1): 18361.
Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure for this disorder. Here, we employed novel biomarkers for monitoring brain function, together with well-established behavioral readouts for CTD mice, to longitudinally study the therapeutic efficacy of cyclocreatine (cCr) at the preclinical level. Our results show that cCr treatment is able to partially correct hemodynamic responses and EEG abnormalities, improve cognitive deficits, revert autistic-like behaviors and protect against seizures. This study provides encouraging data to support the potential therapeutic benefit of cyclocreatine or other chemically modified lipophilic analogs of Cr.
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4. Cardillo R, Mammarella IC, Demurie E, Giofrè D, Roeyers H. {{Pragmatic Language in Children and Adolescents With Autism Spectrum Disorder: Do Theory of Mind and Executive Functions Have a Mediating Role?}}. {Autism Res}. 2020.
Pragmatic language (PL) is defined as the ability to use language effectively in communicative exchanges. Previous findings showed that deficits in PL are a core characteristic of the communicative profile of individuals with autism spectrum disorder (ASD). While different lines of research have revealed a close link between PL and theory of mind (ToM), and between PL and executive functions (EFs), to our knowledge, few studies have explored the relationship between these three domains in children with ASD, and their results have been contradictory. The present study thus aimed to contribute to our understanding of PL in children with ASD and to analyze the underlying mediating role of ToM and EFs. PL is a complex and multifaceted construct. In the present study, we focused on two specific aspects, such as the comprehension of nonliteral language, and the ability to make inferences. After testing 143 participants (73 with ASD), our results confirmed that impairments in PL are a crucial feature of the ASD profile. Children with ASD were also more impaired than their typically developing peers in both ToM and EFs. When the mediating role of ToM and EFs on PL was considered, it emerged that only ToM contributed significantly to the relationship between group and PL. We discussed the potential importance of interventions not focused exclusively on PL, but also involving ToM. LAY SUMMARY: In everyday life, we use pragmatic language to interact successfully with others. Individuals with autism experience significant difficulty in pragmatic language, showing consequent impairments in communication. This study compared the comprehension of nonliteral language, and the ability to make inferences of children with autism and children with typical development, focusing on the role of social and cognitive abilities. Children with autism had difficulties in pragmatic language compared to children with typical development. In addition, the capacity to consider the perspective, intentions and beliefs of other people contributed significantly to the pragmatic language.
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5. Chiang AH, Chang J, Wang J, Vitkup D. {{Exons as units of phenotypic impact for truncating mutations in autism}}. {Mol Psychiatry}. 2020.
Autism spectrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genetic and phenotypic heterogeneity. Despite recent progress in understanding ASD genetics, the nature of phenotypic heterogeneity across probands remains unclear. Notably, likely gene-disrupting (LGD) de novo mutations affecting the same gene often result in substantially different ASD phenotypes. Nevertheless, we find that truncating mutations affecting the same exon frequently lead to strikingly similar intellectual phenotypes in unrelated ASD probands. Analogous patterns are observed for two independent proband cohorts and several other important ASD-associated phenotypes. We find that exons biased toward prenatal and postnatal expression preferentially contribute to ASD cases with lower and higher IQ phenotypes, respectively. These results suggest that exons, rather than genes, often represent a unit of effective phenotypic impact for truncating mutations in autism. The observed phenotypic patterns are likely mediated by nonsense-mediated decay (NMD) of splicing isoforms, with autism phenotypes usually triggered by relatively mild (15-30%) decreases in overall gene dosage. We find that each ASD gene with recurrent mutations can be characterized by a parameter, phenotype dosage sensitivity (PDS), which quantifies the relationship between changes in a gene’s dosage and changes in a given disease phenotype. We further demonstrate analogous relationships between exon LGDs and gene expression changes in multiple human tissues. Therefore, similar phenotypic patterns may be also observed in other human genetic disorders.
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6. Choi ES, Yoo HJ, Kang MS, Kim SA. {{Applying Artificial Intelligence for Diagnostic Classification of Korean Autism Spectrum Disorder}}. {Psychiatry investigation}. 2020.
OBJECTIVE: The primary objective of this study was to predict subgroups of autism spectrum disorder (ASD) based on the Diagnostic Statistical Manual for Mental Disorders-IV Text Revision (DSM-IV-TR) by machine learning (ML). The secondary objective was to set up a ranking of Autism Diagnostic Interview-Revised (ADI-R) diagnostic algorithm items based on ML, and to confirm whether ML can sufficiently predict the diagnosis with these minimum items. METHODS: In the first experiment, a multiclass decision forest algorithm was applied, and the diagnostic algorithm score value of 1,269 Korean ADI-R test data was used for prediction. In the second experiment, we used 539 Korean ADI-R case data (over 48 months with verbal language) to apply mutual information to rank items used in the ADI diagnostic algorithm. RESULTS: In the first experiment, the results of predicting in the case of pervasive developmental disorder not otherwise specified as « ASD » were almost three times higher than predicting it as « No diagnosis. » In the second experiment, the top 10 ranking items of ADI-R were mainly related to the quality abnormality of communication. CONCLUSION: In conclusion, we verified the applicability of ML in diagnosis and found that the application of artificial intelligence for rapid diagnosis or screening of ASD patients may be useful.
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7. Crawley D, Zhang L, Jones EJH, Ahmad J, Oakley B, San José Cáceres A, Charman T, Buitelaar JK, Murphy DGM, Chatham C, den Ouden H, Loth E. {{Modeling flexible behavior in childhood to adulthood shows age-dependent learning mechanisms and less optimal learning in autism in each age group}}. {PLoS biology}. 2020; 18(10): e3000908.
Flexible behavior is critical for everyday decision-making and has been implicated in restricted, repetitive behaviors (RRB) in autism spectrum disorder (ASD). However, how flexible behavior changes developmentally in ASD remains largely unknown. Here, we used a developmental approach and examined flexible behavior on a probabilistic reversal learning task in 572 children, adolescents, and adults (ASD N = 321; typical development [TD] N = 251). Using computational modeling, we quantified latent variables that index mechanisms underlying perseveration and feedback sensitivity. We then assessed these variables in relation to diagnosis, developmental stage, core autism symptomatology, and associated psychiatric symptoms. Autistic individuals showed on average more perseveration and less feedback sensitivity than TD individuals, and, across cases and controls, older age groups showed more feedback sensitivity than younger age groups. Computational modeling revealed that dominant learning mechanisms underpinning flexible behavior differed across developmental stages and reduced flexible behavior in ASD was driven by less optimal learning on average within each age group. In autistic children, perseverative errors were positively related to anxiety symptoms, and in autistic adults, perseveration (indexed by both task errors and model parameter estimates) was positively related to RRB. These findings provide novel insights into reduced flexible behavior in relation to clinical symptoms in ASD.
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8. Griffin JW, Bauer R, Scherf KS. {{A quantitative meta-analysis of face recognition deficits in autism: 40 years of research}}. {Psychological bulletin}. 2020.
The ability to recognize an individual face is essential to human social interaction. Even subtle errors in this process can have huge implications for the way we relate to social partners. Because autism spectrum disorder (ASD) is characterized by deficits in social interaction, researchers have theorized about the potential role of atypical face identity processing to the symptom profile of ASD for more than 40 years. We conducted an empirical meta-analysis of this large literature to determine whether and to what extent face identity processing is atypical in ASD compared to typically developing (TD) individuals. We also tested the hypotheses that the deficit is selective to face identity recognition, not perception, and that methodological variation across studies moderates the magnitude of the estimated deficit. We identified 112 studies (5,390 participants) that generated 172 effect sizes from both recognition (k = 119) and discrimination (k = 53) paradigms. We used state-of-the-art approaches for assessing the validity and robustness of the analyses. We found comparable and large deficits in ASD for both face identity recognition (Hedge’s g = -0.86) and discrimination (Hedge’s g = -0.82). This means that the score of an average ASD individual is nearly 1 SD below the average TD individual on tasks assessing both aspects of face identity processing. These deficits generalize across age groups, sex, IQ scores, and task paradigms. These findings suggest that deficits in face identity processing may represent a core deficit in ASD. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
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9. Guerra C, Joshi S, Lu Y, Palini F, Ferraro Petrillo U, Rossignac J. {{Rank-Similarity Measures for Comparing Gene Prioritizations: A Case Study in Autism}}. {Journal of computational biology : a journal of computational molecular cell biology}. 2020.
We discuss the challenge of comparing three gene prioritization methods: network propagation, integer linear programming rank aggregation (RA), and statistical RA. These methods are based on different biological categories and estimate disease-gene association. Previously proposed comparison schemes are based on three measures of performance: receiver operating curve, area under the curve, and median rank ratio. Although they may capture important aspects of gene prioritization performance, they may fail to capture important differences in the rankings of individual genes. We suggest that comparison schemes could be improved by also considering recently proposed measures of similarity between gene rankings. We tested this suggestion on comparison schemes for prioritizations of genes associated with autism that were obtained using brain- and tissue-specific data. Our results show the effectiveness of our measures of similarity in clustering brain regions based on their relevance to autism.
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10. Ioannou C, Seernani D, Stefanou ME, Biscaldi-Schaefer M, Tebartz Van Elst L, Fleischhaker C, Boccignone G, Klein C. {{Social Visual Perception Under the Eye of Bayesian Theories in Autism Spectrum Disorder Using Advanced Modeling of Spatial and Temporal Parameters}}. {Frontiers in psychiatry}. 2020; 11: 585149.
Social interaction in individuals with Autism Spectrum Disorder (ASD) is characterized by qualitative impairments that highly impact quality of life. Bayesian theories in ASD frame an understanding of underlying mechanisms suggesting atypicalities in the evaluation of probabilistic links within the perceptual environment of the affected individual. To address these theories, the present study explores the applicability of an innovative Bayesian framework on social visual perception in ASD and demonstrates the use of gaze transitions between different parts of social scenes. We applied advanced analyses with Bayesian Hidden Markov Modeling (BHMM) to track gaze movements while presenting real-life scenes to typically developing (TD) children and adolescents (N = 25) and participants with ASD and Attention-Deficit/Hyperactivity Disorder (ASD+ADHD, N = 15) and ASD without comorbidity (ASD, N = 12). Regions of interest (ROIs) were generated by BHMM based both on spatial and temporal gaze behavior. Social visual perception was compared between groups using transition and fixation variables for social (faces, bodies) and non-social ROIs. Transition variables between faces, namely gaze transitions between faces and likelihood of linking faces, were reduced in the ASD+ADHD compared to TD participants. Fixation count to faces was also reduced in this group. The ASD group showed similar performance to TD in the studied variables. There was no difference between groups for non-social ROIs. Our study provides an innovative, interpretable example of applying Bayesian theories of social visual perception in ASD. BHMM analyses and gaze transitions have the potential to reveal fundamental social perception components in ASD, contributing thus to amelioration of social-skill interventions.
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11. Janowski MJ. {{1.5 CE Test Hours: Autism Spectrum Disorder: The Nurse’s Role}}. {The American journal of nursing}. 2020; 120(11): 50.
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12. Kassee C, Babinski S, Tint A, Lunsky Y, Brown HK, Ameis SH, Szatmari P, Lai MC, Einstein G. {{Physical health of autistic girls and women: a scoping review}}. {Mol Autism}. 2020; 11(1): 84.
BACKGROUND: There is a growing recognition of sex and gender influences in autism. Increasingly, studies include comparisons between sexes or genders, but few have focused on clarifying the characteristics of autistic girls’/women’s physical health. METHODS: A scoping review was conducted to determine what is currently known about the physical health of autistic girls/women. We screened 1112 unique articles, with 40 studies meeting the inclusion criteria. We used a convergent iterative process to synthesize this content into broad thematic areas. RESULTS: Autistic girls/women experience more overall physical health challenges compared to non-autistic girls/women and to autistic boys/men. Emerging evidence suggests increased prevalence of epilepsy in autistic girls/women compared to non-autistic girls/women and to autistic boys/men. The literature also suggests increased endocrine and reproductive health conditions in autistic girls/women compared to non-autistic girls/women. Findings regarding gastrointestinal, metabolic, nutritional, and immune-related conditions are preliminary and inconsistent. LIMITATIONS: The literature has substantial heterogeneity in how physical health conditions were assessed and reported. Further, our explicit focus on physical health may have constrained the ability to examine interactions between mental and physical health. The widely differing research aims and methodologies make it difficult to reach definitive conclusions. Nevertheless, in keeping with the goals of a scoping review, we were able to identify key themes to guide future research. CONCLUSIONS: The emerging literature suggests that autistic girls/women have heightened rates of physical health challenges compared to non-autistic girls/women and to autistic boys/men. Clinicians should seek to provide holistic care that includes a focus on physical health and develop a women’s health lens when providing clinical care to autistic girls/women.
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13. Kelly SE, Schmitt LM, Sweeney JA, Mosconi MW. {{Reduced Proactive Control Processes Associated With Behavioral Response Inhibition Deficits in Autism Spectrum Disorder}}. {Autism Res}. 2020.
Impairments in inhibitory control are common in individuals with autism spectrum disorder (ASD) and associated with multiple clinical issues. Proactive (i.e., delaying response onset) and reactive control mechanisms (i.e., stopping quickly) contribute to successful inhibitory control in typically developing individuals and may be compromised in ASD. We assessed inhibitory control in 58 individuals with ASD and 63 typically developing controls aged 5-29 years using an oculomotor stop-signal task during which participants made rapid eye movements (i.e., saccades) toward peripheral targets (i.e., GO trials) or inhibited saccades (i.e., STOP trials). Individuals with ASD exhibited reduced ability to inhibit saccades, reduced reaction time slowing (GO RT slowing), and faster stop-signal reaction times (SSRT) compared to controls. Across participants, stopping accuracy was positively related to GO RT slowing, and increased age was associated with higher stopping accuracy and GO RT slowing. Our results indicate that failures to proactively delay prepotent responses in ASD underpin deficits of inhibitory control and may contribute to difficulties modifying their behavior according to changes in contextual demands. These findings implicate frontostriatal brain networks in inhibitory control and core symptoms of ASD. LAY SUMMARY: Difficulties stopping actions are common in individuals with autism spectrum disorder (ASD) and are related to repetitive behaviors. This study compared the ability to stop eye movements in individuals with ASD and healthy peers. We found that individuals with ASD were less able to stop eye movements and that this difficulty was related to a reduced ability to delay their eye movements before seeing the cue to stop, not their ability to react quickly to this cue.
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14. Kelty-Stephen E, Fein DA, Naigles LR. {{Children with ASD use joint attention and linguistic skill in pronoun development}}. {Language acquisition}. 2020; 27(4): 410-33.
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15. Kolaski K. {{Are Communication Interventions Effective for Minimally Verbal Children with Autism Spectrum Disorder? A Cochrane Review Summary with Commentary}}. {Dev Neurorehabil}. 2020: 1-3.
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16. Lewis EM, Stein-O’Brien GL, Patino AV, Nardou R, Grossman CD, Brown M, Bangamwabo B, Ndiaye N, Giovinazzo D, Dardani I, Jiang C, Goff LA, Dölen G. {{Parallel Social Information Processing Circuits Are Differentially Impacted in Autism}}. {Neuron}. 2020.
Parallel processing circuits are thought to dramatically expand the network capabilities of the nervous system. Magnocellular and parvocellular oxytocin neurons have been proposed to subserve two parallel streams of social information processing, which allow a single molecule to encode a diverse array of ethologically distinct behaviors. Here we provide the first comprehensive characterization of magnocellular and parvocellular oxytocin neurons in male mice, validated across anatomical, projection target, electrophysiological, and transcriptional criteria. We next use novel multiple feature selection tools in Fmr1-KO mice to provide direct evidence that normal functioning of the parvocellular but not magnocellular oxytocin pathway is required for autism-relevant social reward behavior. Finally, we demonstrate that autism risk genes are enriched in parvocellular compared with magnocellular oxytocin neurons. Taken together, these results provide the first evidence that oxytocin-pathway-specific pathogenic mechanisms account for social impairments across a broad range of autism etiologies.
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17. Lovisetto F, Guala A, Facciotto G, Zonta S. {{COVID-19 and psychiatric illness: rectal foreign bodies (30 stylus batteries) in a young male patient affected by Asperger syndrome}}. {Journal of surgical case reports}. 2020; 2020(10): rjaa345.
Here we present the case of a 17-year-old male patient, affected by Asperger syndrome, who reached the emergency division of our hospital after anal insertion of some stylus batteries. Transanal extraction of 30 stylus batteries avoided surgical intervention. Lockdown and boredom due to the strict domestic quarantine policies adopted during COVID-19 pandemic might have unmasked in our patient a susceptibility to unhealthy behaviour.
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18. Lu J, Xiao M, Guo X, Liang Y, Wang M, Xu J, Liu L, Wang Z, Zeng G, Liu K, Li L, Yao P. {{Maternal Diabetes Induces Immune Dysfunction in Autistic Offspring Through Oxidative Stress in Hematopoietic Stem Cells}}. {Frontiers in psychiatry}. 2020; 11: 576367.
Autism spectrum disorders (ASD) have been found to be associated with immune dysfunction and elevated cytokines, although the detailed mechanism remains unknown. In this study, we aim to investigate the potential mechanisms through a maternal diabetes-induced autistic mouse model. We found that maternal diabetes-induced autistic offspring have epigenetic changes on the superoxide dismutase 2 (SOD2) promoter with subsequent SOD2 suppression in both hematopoietic stem cells (HSC) and peripheral blood mononuclear cells (PBMC). Bone marrow transplantation of normal HSC to maternal diabetes-induced autistic offspring transferred epigenetic modifications to PBMC and significantly reversed SOD2 suppression and oxidative stress and elevated inflammatory cytokine levels. Further, in vivo human study showed that SOD2 mRNA expression from PBMC in the ASD group was reduced to ~12% compared to typically developing group, and the SOD2 mRNA level-based ROC (Receiver Operating Characteristic) curve shows a very high sensitivity and specificity for ASD patients. We conclude that maternal diabetes induces immune dysfunction in autistic offspring through SOD2 suppression and oxidative stress in HSC. SOD2 mRNA expression in PBMC may be a good biomarker for ASD diagnosis.
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19. Luhach K, Kulkarni GT, Singh VP, Sharma B. {{Attenuation of neurobehavioural abnormalities by papaverine in prenatal valproic acid rat model of ASD}}. {European journal of pharmacology}. 2020: 173663.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex aetiology and phenotypes. Phosphodiesterase-10A (PDE10A) inhibition has shown to provide benefits in various brain conditions. We investigated the role of a PDE10A inhibitor, papaverine on core phenotypes in prenatal-valproic acid (Pre-VPA) model of ASD. In order to identify probable mechanisms involved, the effects on several protein markers of neuronal function such as, neurogenesis-DCX, neuronal survival-BDNF, synaptic transmission-synapsin-IIa, neuronal transcription factor-pCREB, neuronal inflammation (IL-6, IL-10 and TNF-α) and neuronal oxidative stress (TBARS and GSH) were studied in frontal cortex, cerebellum, hippocampus and striatum. Pre-VPA induced impairments in social behaviour, presence of repetitive behaviour, hyper-locomotion, anxiety, and diminished nociception were studied in male Albino Wistar rats. Administration of papaverine to Pre-VPA animals resulted in improvements of social behaviour, corrected repetitive behaviour, anxiety, locomotor, and nociceptive changes. Also, papaverine resulted in a significant increase in the levels of BDNF, synapsin-IIa, DCX, pCREB, IL-10 and GSH along with significant decrease in TNF-α, IL-6 and TBARS in different brain areas of Pre-VPA group. Finally, high association between behavioural parameters and biochemical parameters was observed upon Pearson’s correlation analysis. Papaverine, administration rectified core behavioural phenotype of ASD, possibly by altering protein markers associated with neuronal survival, neurogenesis, neuronal transcription factor, neuronal transmission, neuronal inflammation, and neuronal oxidative stress. Implicating PDE10A as a possible target for furthering our understanding of ASD phenotypes.
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20. McKeen DM, Zaphiratos V. {{Lack of evidence that epidural pain relief during labour causes autism spectrum disorder: a position statement of the Canadian Anesthesiologists’ Society}}. {Canadian journal of anaesthesia = Journal canadien d’anesthesie}. 2020.
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21. Mehdizadehfar V, Ghassemi F, Fallah A, Mohammad-Rezazadeh I, Pouretemad H. {{Brain connectivity analysis in fathers of children with autism}}. {Cognitive neurodynamics}. 2020; 14(6): 781-93.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder in which changes in brain connectivity, associated with autistic-like traits in some individuals. First-degree relatives of children with autism may show mild deficits in social interaction. The present study investigates electroencephalography (EEG) brain connectivity patterns of the fathers who have children with autism while performing facial emotion labeling task. Fifteen biological fathers of children with the diagnosis of autism (Test Group) and fifteen fathers of neurotypical children with no personal or family history of autism (Control Group) participated in this study. Facial emotion labeling task was evaluated using a set of photos consisting of six categories (mild and extreme: anger, happiness, and sadness). Group Independent Component Analysis method was applied to EEG data to extract neural sources. Dynamic causal connectivity of neural sources signals was estimated using the multivariate autoregressive model and quantified by using the Granger causality-based methods. Statistical analysis showed significant differences (p value < 0.01) in the connectivity of neural sources in recognition of some emotions in two groups, which the most differences observed in the mild anger and mild sadness emotions. Short-range connectivity appeared in Test Group and conversely, long-range and interhemispheric connections are observed in Control Group. Finally, it can be concluded that the Test Group showed abnormal activity and connectivity in the brain network for the processing of emotional faces compared to the Control Group. We conclude that neural source connectivity analysis in fathers may be considered as a potential and promising biomarker of ASD. Lien vers le texte intégral (Open Access ou abonnement)
22. Montez ARH, Bizarra MF, Graça SR. {{Evaluation of oral characteristics and oral health of individuals with fragile X syndrome and related guardians perceptions}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2020.
OBJECTIVES: To relate the oral health of individuals with fragile X syndrome (FXS) with their oral characteristics, habits, and difficulties in terms of oral hygiene and the perception of oral health of the guardians. METHODS AND RESULTS: This observational transversal study included 31 volunteers who belong to the Portuguese Fragile X Syndrome Association. A questionnaire was presented to guardians, and a head and neck and oral examination was performed to the individuals: decay, missing and filled teeth index (DMFT) = 4.65, gingival index (GI) = 1.01, and simplified oral hygiene index (OHI-S) = 2.26 and Malocclusion Class Angle II (61.3%) with dental aesthetic index 34.90. A high-arch narrow palate (71%), accentuated gagging reflex (45.2%), and bruxism (22.6%) were the most common oral characteristics. There was a negative correlation between the several behaviors, attitudes, and habits reported by the guardians and all the indexes of oral health, with significance to the DMFT (P = .032), missing teeth (P = .032), and GI (P = .04). CONCLUSION: There was a variability in oral characteristics, and these can represent a difficulty in performing oral hygiene. The collected data provide information for the health professionals and guardians to guide the monitoring of patients with FXS as well as to create strategies to improve oral hygiene.
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23. Moreno-De-Luca D. {{Trains and Outer Space-The Unique Worlds Within Autism}}. {Jama}. 2020; 324(16): 1591-2.
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24. Nicolaidis C, Zhen KY, Lee J, Raymaker DM, Kapp SK, Croen LA, Urbanowicz A, Maslak J, Scharer M. {{Psychometric testing of a set of patient-reported instruments to assess healthcare interventions for autistic adults}}. {Autism}. 2020: 1362361320967178.
Interventions to improve healthcare for autistic adults are greatly needed. To evaluate such interventions, researchers often use surveys to collect data from autistic adults (or sometimes, their supporters), but few survey measures have been tested for use with autistic adults. Our objective was to create and test a set of patient- or proxy-reported survey measures for use in studies that evaluate healthcare interventions. We used a community-based participatory research (CBPR) approach, in partnership with autistic adults, healthcare providers, and supporters. We worked together to create or adapt survey measures. Three survey measures focus on things that interventions may try to change directly: (1) how prepared patients are for visits; (2) how confident they feel in managing their health and healthcare; and (3) how well the healthcare system is making the accommodations patients feel they need. The other measures focus on the outcomes that interventions may hope to achieve: (4) improved patient-provider communication; (5) reduced barriers to care; and (6) reduced unmet healthcare needs. We then tested these measures in a survey of 244 autistic adults recruited from 12 primary care clinics in Oregon and California, USA (with 194 participating directly and 50 participating via a proxy reporter). Community partners made sure items were easy to understand and captured what was important about the underlying idea. We found the survey measures worked well in this sample. These measures may help researchers evaluate new healthcare interventions. Future research needs to assess whether interventions improve healthcare outcomes in autistic adults.
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25. Rodgers J, South M. {{Commentary: Thinking flexibly about mental health and autism – a commentary on Ozsivadjian et al. (2020)}}. {J Child Psychol Psychiatry}. 2020.
Research on mental health in autism has quite rightly flourished over the past fifteen years, and there is now clear evidence that autistic people are at heightened risk of experiencing mental health concerns. Recent research has shown that common mental health conditions may be experienced differently by autistic people, meaning that assessment and intervention techniques that were developed with and for neurotypical individuals are potentially less sensitive and effective for those on the spectrum. The upshot of this work is that we need to get better at all of these aspects of identification, support and intervention and that will only be possible with a clear understanding of the mechanisms of mental distress for autistic people. The work described in Ozsivadjian et al. (2020) makes a welcome addition to this literature. In this commentary, we explore the strengths and limitations of the work and consider its contribution to research and clinical practice in the field of autism and mental health.
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26. Rubenstein E, Ehrenthal DB, Mallinson DC, Bishop L, Kuo HH, Durkin M. {{Pregnancy complications and maternal birth outcomes in women with intellectual and developmental disabilities in Wisconsin Medicaid}}. {PLoS One}. 2020; 15(10): e0241298.
BACKGROUND: Women with intellectual and developmental disabilities (IDD) may face greater risk for poor pregnancy outcomes. Our objective was to examine risk of maternal pregnancy complications and birth outcomes in women with IDD compared to women without IDD in Wisconsin Medicaid, from 2007-2016. METHODS: Data were from the Big Data for Little Kids project, a data linkage that creates an administrative data based cohort of mothers and children in Wisconsin. Women with ≥1 IDD claim the year before delivery were classified as having IDD. Common pregnancy complications and maternal birth outcomes were identified from the birth record. We calculated risk ratios (RR) using log-linear regression clustered by mother. We examined outcomes grouped by IDD-type and explored interaction by race. RESULTS: Of 177,691 women with live births, 1,032 (0.58%) had an IDD claim. Of 274,865 deliveries, 1,757 were to mothers with IDD (0.64%). Women with IDD were at greater risk for gestational diabetes (RR: 1.28, 95% CI: 1.0, 1.6), gestational hypertension (RR: 1.22, 95% CI: 1.0, 1.5), and caesarean delivery (RR 1.32, 95% CI: 1.2, 1.4) compared to other women. Adjustment for demographic covariates did not change estimates. Women with intellectual disability were at highest risk of gestational hypertension. Black women with IDD were at higher risk of gestational hypertension than expected under a multiplicative model. CONCLUSIONS: Women with IDD have increased risk of pregnancy complications and adverse outcomes in Wisconsin Medicaid. Results were robust to adjustment. Unique patterns by IDD types and Black race warrant further exploration.
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27. Santocchi E, Guiducci L, Prosperi M, Calderoni S, Gaggini M, Apicella F, Tancredi R, Billeci L, Mastromarino P, Grossi E, Gastaldelli A, Morales MA, Muratori F. {{Effects of Probiotic Supplementation on Gastrointestinal, Sensory and Core Symptoms in Autism Spectrum Disorders: A Randomized Controlled Trial}}. {Frontiers in psychiatry}. 2020; 11: 550593.
The microbiota-gut-brain axis has been recently recognized as a key modulator of neuropsychiatric health. In this framework, probiotics (recently named « psychobiotics ») may modulate brain activity and function, possibly improving the behavioral profiles of children with Autism Spectrum Disorder (ASD). We evaluated the effects of probiotics on autism in a double-blind randomized, placebo-controlled trial of 85 preschoolers with ASD (mean age, 4.2 years; 84% boys). Participants were randomly assigned to probiotics (De Simone Formulation) (n=42) or placebo (n=43) for six months. Sixty-three (74%) children completed the trial. No differences between groups were detected on the primary outcome measure, the Total Autism Diagnostic Observation Schedule – Calibrated Severity Score (ADOS-CSS). An exploratory secondary analysis on subgroups of children with or without Gastrointestinal Symptoms (GI group, n= 30; NGI group, n=55) revealed in the NGI group treated with probiotics a significant decline in ADOS scores as compared to that in the placebo group, with a mean reduction of 0.81 in Total ADOS CSS and of 1.14 in Social-Affect ADOS CSS over six months. In the GI group treated with probiotics we found greater improvements in some GI symptoms, adaptive functioning, and sensory profiles than in the GI group treated with placebo. These results suggest potentially positive effects of probiotics on core autism symptoms in a subset of ASD children independent of the specific intermediation of the probiotic effect on GI symptoms. Further studies are warranted to replicate and extend these promising findings on a wider population with subsets of ASD patients which share targets of intervention on the microbiota-gut-brain axis. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, identifier NCT02708901.
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28. Simões M, Borra D, Santamaría-Vázquez E, Bittencourt-Villalpando M, Krzemiński D, Miladinović A, Schmid T, Zhao H, Amaral C, Direito B, Henriques J, Carvalho P, Castelo-Branco M. {{BCIAUT-P300: A Multi-Session and Multi-Subject Benchmark Dataset on Autism for P300-Based Brain-Computer-Interfaces}}. {Front Neurosci}. 2020; 14: 568104.
There is a lack of multi-session P300 datasets for Brain-Computer Interfaces (BCI). Publicly available datasets are usually limited by small number of participants with few BCI sessions. In this sense, the lack of large, comprehensive datasets with various individuals and multiple sessions has limited advances in the development of more effective data processing and analysis methods for BCI systems. This is particularly evident to explore the feasibility of deep learning methods that require large datasets. Here we present the BCIAUT-P300 dataset, containing 15 autism spectrum disorder individuals undergoing 7 sessions of P300-based BCI joint-attention training, for a total of 105 sessions. The dataset was used for the 2019 IFMBE Scientific Challenge organized during MEDICON 2019 where, in two phases, teams from all over the world tried to achieve the best possible object-detection accuracy based on the P300 signals. This paper presents the characteristics of the dataset and the approaches followed by the 9 finalist teams during the competition. The winner obtained an average accuracy of 92.3% with a convolutional neural network based on EEGNet. The dataset is now publicly released and stands as a benchmark for future P300-based BCI algorithms based on multiple session data.
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29. Surapaty IA, Simadibrata C, Rejeki ES, Mangunatmadja I. {{Laser Acupuncture Effects on Speech and Social Interaction in Patients with Autism Spectrum Disorder}}. {Medical acupuncture}. 2020; 32(5): 300-9.
Objective: Disorders of speech ability and social interaction are the most-common symptoms in children with autism spectrum disorder (ASD). Acupuncture, as an adjunctive therapy, is known to help improve speech ability and social interaction in children with this condition. One of the acupuncture modalities with minimal side-effects, and that is safe for children, is laser acupuncture or laserpuncture. This study’s aim was to determine laserpuncture’s effects on speech ability and social interactions in patients with ASD. Materials and Methods: This randomized, double-blinded clinical trial involved 46 patients in 2 groups. All respondents qualified, and none dropped out. The treatment group (n = 23) received sensory-occupational integrative therapy and verum laserpuncture therapy and the control group (n = 23) received sensory-occupational integrative therapy and placebo laserpuncture. The groups’ speech ability and social interaction were evaluated with a WeeFIM(®) questionnaire; parental reports were collected, using sensory profiles before and after treatment. Results: There were improvements in speech ability and social interaction in the verum laserpuncture group more than in the placebo group after treatment. Perception score was P < 0.001; odds ratio (OR): 18.8; 95% confidence interval (CI): 4.09-87.17. Expression score was P < 0.001; OR: 50.2; 95% CI: 5.61-450.2. Social interaction score was P = 0.005; OR:7.2; 95% CI: 1.68-31.42. Parental report score was P = 0.765. Conclusions: Verum laserpuncture in this clinical trial improved speech ability and social interaction scores more effectively than placebo laserpuncture did in patients with ASD. Lien vers le texte intégral (Open Access ou abonnement)
30. Trevis KJ, Brown NJ, Green CC, Lockhart PJ, Desai T, Vick T, Anderson V, Pua EPK, Bahlo M, Delatycki MB, Scheffer IE, Wilson SJ. {{Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype}}. {International journal of molecular sciences}. 2020; 21(21).
Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the « Broader Autism Phenotype » (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families (n = 45). Our protocol identified four distinct psychological endophenotypes of the BAP that were evident across these independent samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. Patterns of inheritance of identified endophenotypes varied between the two large multiplex families, supporting their utility for identifying genes in ASD.
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31. Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, Magnusson C, Sandin S, Tabb LP, Newschaffer CJ, Lee BK. {{The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child’s odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD - ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies.
