Pubmed du 28/07/20

mardi 28 juillet 2020

1. Andoh M, Ikegaya Y, Koyama R. Microglia in animal models of autism spectrum disorders. Prog Mol Biol Transl Sci ;2020 ;173:239-273.

Various genetic and environmental factors have been suggested to cause autism spectrum disorders (ASDs). A variety of animal models of ASDs have been developed and used to investigate the mechanisms underlying the pathogenesis of ASDs. These animal models have contributed to clarifying that abnormalities in neuronal morphology and neurotransmission are responsible for the onset of ASDs. In recent years, researchers have started to focus not only on neurons but also on glial cells, particularly microglia. This is because microglial malfunction is strongly associated with structural and functional abnormalities of neurons, as well as the inflammation that is commonly observed both in the brains of patients with ASDs and in animal models of ASDs. In this chapter, we first introduce a list of commonly available animal models of ASDs and describe the validity of each model from the viewpoint of behaviors and neuroanatomy. We next detail the malfunction of microglia that has been reported in animal models of ASDs and discuss the roles of microglia in ASD pathogenesis. We will further propose possible therapeutic strategies to tackle ASDs by controlling microglial functions.

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2. Arnell S, Jerlinder K, Lundqvist LO. Parents’ perceptions and concerns about physical activity participation among adolescents with autism spectrum disorder. Autism ;2020 (Jul 25):1362361320942092.

What is already known about the topic ? The parents of adolescents with autism spectrum disorder have a vital and proactive role in encouraging healthy physical activity habits. But promoting healthy physical activity habits in adolescents can be difficult. The purpose of this study was thus to describe the parental perceptions of their adolescent child’s participation in physical activity and to describe the parental role in promoting such participation. Twenty-eight parents of adolescents aged 12-16 years with autism spectrum disorder were interviewed.What this paper adds ? The parents described how challenging participation in physical activities could be for their adolescents. Despite this, they wanted to see their children participate more in physical activity but found the promotion of physical activity to be an overwhelming task that was difficult to cope with on their own.Implications for practice, research, or policy. The results reveal a need for support and collaborative efforts among different actors to give these issues increased priority in order to promote the adolescents’ physical activity participation.

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3. Baker E, Stavropoulos KKM. The effects of oxytocin administration on individuals with ASD : Neuroimaging and behavioral evidence. Prog Mol Biol Transl Sci ;2020 ;173:209-238.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and the presence of restricted interests and repetitive behaviors. Although behavioral interventions are numerous, there are no Federal Drug Administration approved pharmacological treatments for the core symptoms of ASD. The neuropeptide oxytocin has been studied in animals for decades, and is involved in pair bonding and social affiliation. Given oxytocin’s involvement in social communication in animals, researchers have begun exploring whether oxytocin administration in humans affects social behaviors and attachment. Particular attention has been paid to whether oxytocin has therapeutic benefits for improving social behaviors in individuals with ASD. Research on oxytocin administration in ASD has utilized both behavioral and brain-based outcomes. This chapter reviews the effects of oxytocin administration in ASD, with a focus on functional outcomes from neuroimaging investigations. Evidence of potential therapeutic benefits are reviewed, as well as limitations of extant research. A proposed model for future research into the therapeutic benefits of oxytocin includes combining pharmacological (e.g. oxytocin) and behavioral (e.g. evidence-based behavioral interventions) techniques to improve social communication skills in ASD.

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4. Berridge S, Hutchinson N. Staff experience of the implementation of intensive interaction within their places of work with people with learning disabilities and/or autism. J Appl Res Intellect Disabil ;2020 (Jul 26)

BACKGROUND : Intensive interaction is an approach used to develop the communication and social inclusion of those who are pre-verbal. It is used in a variety of settings by healthcare and educational staff. METHOD : A systematic search was conducted to identify and review the literature which explores staff experiences of intensive interaction being implemented within their places of work. Thematic synthesis was utilized to synthesize the findings. RESULTS : Nine papers were included. Three higher-order themes were generated : "Personal Doubt, Discordance & Discomfort," "A Turning Point" and "Needing Implementation at All Levels." CONCLUSIONS : There were consistent findings across a range of settings. Findings suggest that intensive interaction is rewarding for staff and beneficial to those that they work with. Implementation was sometimes perceived to be challenging and this review attempts to highlight solutions with guidance of the literature. Limitations largely relate to heterogeneity of the papers and methodological limitations are discussed.

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5. Chang J, Kochel R. Vaccine Hesitancy and Attributions for Autism among Racially and Ethnically Diverse Groups of Parents of Children with Autism Spectrum Disorder : A Pilot Study. Autism Res ;2020 (Jul 24)

Little is known about how racial/ethnic differences may influence attributions for autism spectrum disorder (ASD) and subsequent vaccine hesitancy, the latter of which refers to a continuum of concerns about vaccine safety that may lead to vaccine delays and/or refusals. Two hundred and twenty-five parents of children with ASD who were enrolled in the SPARK cohort (Simons Foundation Powering Autism Research for Knowledge) completed the Parent Attitudes about Childhood Vaccines survey and the Revised Illness Perception Questionnaire. 28.9% of respondents (n = 65) were vaccine hesitant (PACV score ≥ 50). Significant differences were observed between proportions of vaccine-hesitant parents (VHP) in the White sample and combined samples of color (Asian, Black, Latinx, Multiracial, and Other) : 22.8% of the White sample (n = 39) versus 48.1% of the samples of color (n = 26). White, non-hesitant parents more often agreed with the child’s brain structure as a cause of their child’s ASD, while White, VHP more often agreed with the deterioration of the child’s immunity as a cause. All VHP (regardless of race) agreed more often with diet, their own decisions, and vaccines as causes. VHP of color more often agreed with accident or injury, environmental pollution, their own general stress, and their own emotional state as causes. Future work should examine this phenomenon in larger, diverse samples to further understand differences across specific racial/ethnic groups. LAY SUMMARY : Some parents of children with autism spectrum disorder (ASD) are vaccine hesitant, meaning they have concerns about vaccine safety and may delay/refuse vaccines. We examined possible racial/ethnic differences related to how common vaccine hesitancy is and which causes of ASD were typically endorsed among a sample of caregivers in the SPARK cohort (Simons Foundation Powering Autism Research for Knowledge). Higher proportions of parents of color were vaccine hesitant, and all vaccine-hesitant parents agreed that "toxins in vaccines" were a cause of their child’s ASD.

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6. Chen O, Tahmazian I, Ferrara HJ, Hu B, Chomiak T. The early overgrowth theory of autism spectrum disorder : Insight into convergent mechanisms from valproic acid exposure and translational models. Prog Mol Biol Transl Sci ;2020 ;173:275-300.

The development of new approaches for the clinical management of autism spectrum disorder (ASD) can only be realized through a better understanding of the neurobiological changes associated with ASD. One strategy for gaining deeper insight into the neurobiological mechanisms associated with ASD is to identify converging pathogenic processes associated with human idiopathic clinicopathology that are conserved in translational models of ASD. In this chapter, we first present the early overgrowth theory of ASD. Second, we introduce valproic acid (VPA), one of the most robust and well-known environmental risk factors associated with ASD, and we summarize the rapidly growing body of animal research literature using VPA as an ASD translational model. Lastly, we will detail the mechanisms of action of VPA and its impact on functional neural systems, as well as discuss future research directions that could have a lasting impact on the field.

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7. Cheng N, Pagtalunan E, Abushaibah A, Naidu J, Stell WK, Rho JM, Sauvé Y. Atypical visual processing in a mouse model of autism. Sci Rep ;2020 (Jul 24) ;10(1):12390.

Human social cognition relies heavily on the processing of various visual cues, such as eye contact and facial expressions. Atypical visual perception and integration have been recognized as key phenotypes in individuals diagnosed with autism spectrum disorder (ASD), and may potentially contribute to impediments in normal social development, a hallmark of ASD. Meanwhile, increasing studies on visual function in ASD have pointed to detail-oriented perception, which has been hypothesized to result from heightened response to information of high spatial frequency. However, mixed results of human studies have led to much debate, and investigations using animal models have been limited. Here, using BTBR mice as a model of idiopathic ASD, we assessed retinal stimulus processing by full-field electroretinogram and found impaired photoreceptor function and retina-based alterations mostly in the cone pathway. Using the optokinetic reflex to evaluate visual function, we observed robustly enhanced visual response to finer spatial details and more subtle contrasts at only higher spatial frequencies in the BTBR mice, under both photopic and scotopic conditions. These behavioral results, which are similar to findings in a subset of ASD patients, indicate a bias toward processing information of high spatial frequencies. Together, these findings also suggest that, while enhancement of visual behaviors under both photopic and scotopic conditions might be due to alterations in visual processing common to both rod and cone pathways, these mechanisms are probably downstream of photoreceptor function.

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8. Cheung PPP, Lau BWM. Neurobiology of sensory processing in autism spectrum disorder. Prog Mol Biol Transl Sci ;2020 ;173:161-181.

Altered sensory processing and perception has been one of the characteristics of autism spectrum disorder (ASD). In this chapter, we review the neural underpinnings of sensory abnormalities of ASD by examining the literature on clinical, behavioral and neurobiological evidence that underlies the main patterns of sensory integration function and dysfunction. Furthermore, neural differences in anatomy, function and connectivity of different regions underlying sensory processing are also discussed. We conclude that sensory integration intervention is built on the premise of neuroplasticity to improve function and behavior for individuals with ASD.

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9. Cortés H, Reyes-Rosales M, Rojas-Velasco AJ, García-Juárez B, Tapia-Guerrero YS, Arenas-Diaz S, Leyva-García N, Macías-Gallardo JJ, Carrillo-Mora P, Magaña JJ. Coexistence of Fragile-X Syndrome, 8p23.1 Deletion, and Balanced Translocation t(7 ;10)(p10 ;q24) in a Single Family. Genet Test Mol Biomarkers ;2020 (Jul 21)

Aims : Fragile-X syndrome (FXS) is the most common inherited form of intellectual disability ; it is caused by an abnormal CGG-repeat expansion at the FMR1 gene. However, a few cases of girls with mutations in the FMR1 gene have been reported in the literature. In this study, we describe the clinical and genetic assessment of a family who exhibits the unusual coexistence of FXS, 8p23.1 deletion, and balanced translocation t(7 ;10)(p10 ;q24) in multiple members, including a symptomatic girl with FXS. Materials and Methods : All of the family members underwent comprehensive clinical and neurological examinations. All members of the family were also molecularly diagnosed using a combination of fluorescent-polymerase chain reaction (PCR), Triplet Repeat Primed-PCR, capillary electrophoresis, and karyotyping. Results : We identified a male proband and a female patient that presented with the craniofacial characteristics of FXS, neuropsychomotor developmental delay, speech delay, intellectual deficit, and a positive molecular diagnosis of FXS. Interestingly, the female patient presented with a severe phenotype also associated with the presence of 8p23.1 deletion, while the proband patient presented a balanced translocation t(7 ;10)(p10 ;q24). Moreover, we detected multiple carriers of the FXS premutation in the family. Conclusions : To our knowledge, we describe for the first time the simultaneous occurrence of FXS and an 8p23.1 deletion and their possible synergistic effects on the phenotype of a female patient. Moreover, we describe the coexistence of FXS, 8p23.1 deletion, and a balanced translocation t(7 ;10)(p10 ;q24) in the same family.

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10. Dawson-Squibb JJ, de Vries PJ. A comparative feasibility study of two parent education and training programmes for autism spectrum disorder in a low-resource South African setting. Autism ;2020 (Jul 28):1362361320942988.

After a diagnosis of autism, it is an important first step to give families information about autism and skills to help them support their child. These interventions are called Parent Education and Training programmes. Little is known about these programmes or if they can make a difference to families, particularly in countries with few autism resources. In this study, we compared two Parent Education and Training programmes in South Africa. EarlyBird/EarlyBird Plus was developed in the United Kingdom, and Autism Cares in South Africa. We wanted to know if parents found the programmes useful, and if any changes were required. We collected information from parents through questionnaires and interviews before and after the group. We also asked a panel of experts (including parents) to compare the programmes. In total, 18 parents attended the EarlyBird/EarlyBird Plus group and 11 attended the Autism Cares group. Parents found both programmes helpful and made suggestions for improvements. Parents showed less stress, more knowledge of autism, and saw improvements in their children. The expert panel rated EarlyBird/EarlyBird Plus as better because it was more supportive of parents and was seen as easier to run in the country. Our study showed that Parent Education and Training programmes are important, but that researchers must study not only the outcomes but also the implementation needs of these programmes.

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11. De Pascalis V, Cirillo G, Vecchio A, Ciorciari J. Event-Related Potential to Conscious and Nonconscious Emotional Face Perception in Females with Autistic-Like Traits. J Clin Med ;2020 (Jul 21) ;9(7)

This study explored the electrocortical correlates of conscious and nonconscious perceptions of emotionally laden faces in neurotypical adult women with varying levels of autistic-like traits (Autism Spectrum Quotient-AQ). Event-related potentials (ERPs) were recorded during the viewing of backward-masked images for happy, neutral, and sad faces presented either below (16 ms-subliminal) or above the level of visual conscious awareness (167 ms-supraliminal). Sad compared to happy faces elicited larger frontal-central N1, N2, and occipital P3 waves. We observed larger N1 amplitudes to sad faces than to happy and neutral faces in High-AQ (but not Low-AQ) scorers. Additionally, High-AQ scorers had a relatively larger P3 at the occipital region to sad faces. Regardless of the AQ score, subliminal perceived emotional faces elicited shorter N1, N2, and P3 latencies than supraliminal faces. Happy and sad faces had shorter N170 latency in the supraliminal than subliminal condition. High-AQ participants had a longer N1 latency over the occipital region than Low-AQ ones. In Low-AQ individuals (but not in High-AQ ones), emotional recognition with female faces produced a longer N170 latency than with male faces. N4 latency was shorter to female faces than male faces. These findings are discussed in view of their clinical implications and extension to autism.

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12. Dinstein I, Arazi A, Golan HM, Koller J, Elliott E, Gozes I, Shulman C, Shifman S, Raz R, Davidovitch N, Gev T, Aran A, Stolar O, Ben-Itzchak E, Snir IM, Israel-Yaacov S, Bauminger-Zviely N, Bonneh YS, Gal E, Shamay-Tsoory S, Zait AZ, Hadad BS, Gross R, Faroy M, Bachmat E, Eran A, Uzefovsky F, Flusser H, Michaelovski A, Levine SZ, Kodesh A, Gothelf D, Marom D, Feldman HB, Yosef DB, Bloch AM, Sadaka Y, Schtaierman C, Davidovitch M, Begin M, Gabis LV, Zachor D, Menashe I, Golan O, Meiri G. The National Autism Database of Israel : a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy. J Mol Neurosci ;2020 (Jul 28)

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13. Earnest T, Shephard E, Tye C, McEwen F, Woodhouse E, Liang H, Sheerin F, Bolton PF. Actigraph-Measured Movement Correlates of Attention-Deficit/Hyperactivity Disorder (ADHD) Symptoms in Young People with Tuberous Sclerosis Complex (TSC) with and without Intellectual Disability and Autism Spectrum Disorder (ASD). Brain Sci ;2020 (Jul 28) ;10(8)

Actigraphy, an objective measure of motor activity, reliably indexes increased movement levels in attention-deficit/hyperactivity disorder (ADHD) and may be useful for diagnosis and treatment-monitoring. However, actigraphy has not been examined in complex neurodevelopmental conditions. This study used actigraphy to objectively measure movement levels in individuals with a complex neurodevelopmental genetic disorder, tuberous sclerosis (TSC). Thirty participants with TSC (11-21 years, 20 females, IQ = 35-108) underwent brief (approximately 1 h) daytime actigraph assessment during two settings : movie viewing and cognitive testing. Multiple linear regressions were used to test associations between movement measurements and parent-rated ADHD symptoms. Correlations were used to examine associations between actigraph measures and parent-rated ADHD symptoms and other characteristics of TSC (symptoms of autism spectrum disorder (ASD), intellectual ability (IQ), epilepsy severity, cortical tuber count). Higher movement levels during movies were associated with higher parent-rated ADHD symptoms. Higher ADHD symptoms and actigraph-measured movement levels during movies were positively associated with ASD symptoms and negatively associated with IQ. Inter-individual variability of movement during movies was not associated with parent-rated hyperactivity or IQ but was negatively associated with ASD symptoms. There were no associations with tuber count or epilepsy. Our findings suggest that actigraph-measured movement provides a useful correlate of ADHD in TSC.

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14. Geng X, Kang X, Wong PCM. Autism spectrum disorder risk prediction : A systematic review of behavioral and neural investigations. Prog Mol Biol Transl Sci ;2020 ;173:91-137.

A reliable diagnosis of autism spectrum disorder (ASD) is difficult to make until after toddlerhood. Detection in an earlier age enables early intervention, which is typically more effective. Recent studies of the development of brain and behavior in infants and toddlers have provided important insights in the diagnosis of autism. This extensive review focuses on published studies of predicting the diagnosis of autism during infancy and toddlerhood younger than 3 years using behavioral and neuroimaging approaches. After screening a total of 782 papers, 17 neuroimaging and 43 behavioral studies were reviewed. The features for prediction consist of behavioral measures using screening tools, observational and experimental methods, brain volumetric measures, and neural functional activation and connectivity patterns. The classification approaches include logistic regression, linear discriminant function, decision trees, support vector machine, and deep learning based methods. Prediction performance has large variance across different studies. For behavioral studies, the sensitivity varies from 20% to 100%, and specificity ranges from 48% to 100%. The accuracy rates range from 61% to 94% in neuroimaging studies. Possible factors contributing to this inconsistency may be partially due to the heterogeneity of ASD, different targeted populations (i.e., high-risk group for ASD and general population), age when the features were collected, and validation procedures. The translation to clinical practice requires extensive further research including external validation with large sample size and optimized feature selection. The use of multi-modal features, e.g., combination of neuroimaging and behavior, is worth further investigation to improve the prediction accuracy.

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15. Hirvikoski T, Lajic S, Jokinen J, Renhorn E, Trillingsgaard A, Kadesjö B, Gillberg C, Borg J. Using the five to fifteen-collateral informant questionnaire for retrospective assessment of childhood symptoms in adults with and without autism or ADHD. Eur Child Adolesc Psychiatry ;2020 (Jul 25)

Due to lack of previous studies, we aimed at evaluating the use of the Five to Fifteen (FTF) questionnaire in adults with neurodevelopmental disorders (NDD) and in controls without NDD. The NDD group consisted of adults with autism spectrum disorder ASD (n = 183) or attention-deficit/hyperactivity disorder (ADHD) (n = 174) without intellectual disability, recruited from a tertiary outpatient clinic. A web survey was used to collect data from general population adult control group without NDD (n = 738). The participants were retrospectively rated by their parents regarding childhood symptoms, using five to fifteen-collateral informant questionnaire (FTF-CIQ). Adults with NDD had higher FTF-CIQ domain and subdomain scores than controls, and displayed similar test profiles as children with corresponding diagnosis in previous studies. Based on the FTF-CIQ domain scores, 84.2% of the study participants (93% of the controls ; 64% of the adults with NDD) were correctly classified in a logistic regression analysis. Likewise, Receiver Operating Characteristic (ROC) curve analysis on FTF-CIQ total sum score indicated that a cut-off value of 20.50 correctly classified 90% of the controls and 67% of the clinical cases, whilst a cut-off value of 30.50 correctly classified 84% of the controls and 77% of the clinical cases. The factor analysis revealed three underlying components : learning difficulties, cognitive and executive functions ; social skills and emotional/behavioural symptoms ; as well as motor and perceptual skills. Whilst not designed as a diagnostic instrument, the FTF-CIQ may be useful for providing information on childhood symptoms and associated difficulties in individuals assessed for NDD as adults.

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16. Hohmann SS, Ilieva M, Michel TM. In vitro models for ASD-patient-derived iPSCs and cerebral organoids. Prog Mol Biol Transl Sci ;2020 ;173:355-375.

Autism spectrum disorder (ASD) is a set of pervasive neurodevelopmental disorders. The causation is multigenic in most cases, which makes it difficult to model the condition in vitro. Advances in pluripotent stem cell technology has made it possible to generate in vitro models of human brain development. Induced pluripotent stem cells (iPSCs) can be generated from somatic cells and have the ability to differentiate to all of the body’s cells. This chapter aims to give an overview of the iPSC technology for generating neural cells and cerebral organoids as models for neurodevelopment and how these models are utilized in the study of ASD. The combination of iPSC technology and the genetic modification tool CRISPR/Cas9 is described, and current limitations and future perspectives of iPSC technology is discussed.

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17. Hudry K, Chetcuti L, Hocking DR. Motor functioning in developmental psychopathology : A review of autism as an example context. Res Dev Disabil ;2020 (Jul 23) ;105:103739.

BACKGROUND : Motor development research has seen substantial recent growth. However, much remains to be understood about the nature and extent of motor impairments in neurodevelopmental disorders, including their potential as early markers and/or causal determinants of downstream functioning in other domains. AIMS AND METHODS : In this narrative review, drawing primarily on the autism literature by way of example, we review current accounts of the nature and consequences of motor functioning. We consider conventional approaches to measurement and study design, and current limited approaches to tackling heterogeneity. CONCLUSIONS AND IMPLICATIONS : We argue that ongoing adherence to traditional diagnostic outcome classification stands in the face of mounting evidence that characteristics of neurodevelopmental disorders lie on a continuum with variability in the general population, and that three broad research avenues stand to offer a better understanding of motor functioning : The use of technology and advanced statistical methods for a more nuanced understanding of motor abilities ; exploiting the prospective longitudinal tracking of at-risk infants to understand developmental consequences of early motor difference ; and employing randomized controlled trials to test the utility of motor therapies whilst also testing causal hypotheses about the role of motor functioning.

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18. Hyatt CJ, Calhoun VD, Pittman B, Corbera S, Bell MD, Rabany L, Pelphrey K, Pearlson GD, Assaf M. Default mode network modulation by mentalizing in young adults with autism spectrum disorder or schizophrenia. Neuroimage Clin ;2020 (Jul 8) ;27:102343.

Schizophrenia and autism spectrum disorder (ASD) are nosologically distinct neurodevelopmental disorders with similar deficits in social cognition, including the ability to form mental representations of others (i.e., mentalizing). However, the extent of patient deficit overlap in underlying neural mechanisms is unclear. Our goal was to examine deficits in mentalizing task-related (MTR) activity modulation in schizophrenia and ASD and the relationship of such deficits with social functioning and psychotic symptoms in patients. Adults, ages 18-34, diagnosed with either ASD or schizophrenia, and typically developed controls (n = 30/group), performed an interactive functional MRI Domino task. Using independent component analysis, we analyzed game intervals known to stimulate mentalizing in the default mode network (DMN), i.e., medial prefrontal cortex (MPFC), posterior cingulate cortex (PCC), precuneus, and temporoparietal junction (TPJ), for group differences in MTR activity and associations between MTR activity and social and psychosis measures. Compared to controls, both schizophrenia and ASD groups showed MTR activity deficits in PCC and TPJ. In TPJ and MPFC, MTR activity modulation was associated with social communication impairments only in ASD. In precuneus, MTR activity was associated with increased self-reported fantasizing only in schizophrenia. In schizophrenia, we found no indication of over-mentalizing activity or an association between MTR activity and psychotic symptoms. Results suggest shared neural deficits between ASD and schizophrenia in mentalizing-associated DMN regions ; however, neural organization might correspond to different dimensional social deficits. Our results therefore indicate the importance of examining both categorical-clinical diagnosis and social functioning dimensional constructs when examining neural deficits in schizophrenia and ASD.

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19. Leung MK, Lau WK. Resting-state abnormalities of posterior cingulate in autism spectrum disorder. Prog Mol Biol Transl Sci ;2020 ;173:139-159.

The posterior cingulate cortex (PCC) plays pivotal roles in cognitive, social and emotional processing, as well as early neural development that supports complex interactions among different neural networks. Alterations in its local and long-range connectivity during resting state are often implicated in neuropathology of neurodevelopmental disorders such as autism spectrum disorder (ASD). ASD is characterized by social and communication deficits, as well as restricted and repetitive behaviors and interests. Individuals with ASD demonstrate persistent disturbances in cognitive and social-emotional functioning, and their PCC exhibits both local and long-range resting state abnormalities compared to typically developing healthy controls. In terms of regional metrics, only the dorsal part of the PCC showed local underconnectivity. As to long-range connectivity measures, the most replicated finding in ASD studies is the reduced functional coupling between the PCC and medial prefrontal cortex (MPFC), which may represent a core neuropathology of ASD unrelated to medication effects. Functional importance of these resting state abnormalities to ASD and directions of future study are discussed at the end of this chapter.

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20. Lim T, Tan MY, Aishworiya R, Kang YQ. Autism Spectrum Disorder and COVID-19 : Helping Caregivers Navigate the Pandemic. Ann Acad Med Singapore ;2020 (Jun) ;49(6):384-386.

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21. Liu P, Xiao G, He K, Zhang L, Wu X, Li D, Zhu C, Tian Y, Hu P, Qiu B, Ji GJ, Wang K. Increased Accuracy of Emotion Recognition in Individuals with Autism-Like Traits after Five Days of Magnetic Stimulations. Neural Plast ;2020 ;2020:9857987.

Individuals with autism-like traits (ALT) belong to a subclinical group with similar social deficits as autism spectrum disorders (ASD). Their main social deficits include atypical eye contact and difficulty in understanding facial expressions, both of which are associated with an abnormality of the right posterior superior temporal sulcus (rpSTS). It is still undetermined whether it is possible to improve the social function of ALT individuals through noninvasive neural modulation. To this end, we randomly assigned ALT individuals into the real (n = 16) and sham (n = 16) stimulation groups. All subjects received five consecutive days of intermittent theta burst stimulation (iTBS) on the rpSTS. Eye tracking data and functional magnetic resonance imaging (fMRI) data were acquired on the first and sixth days. The real group showed significant improvement in emotion recognition accuracy after iTBS, but the change was not significantly larger than that in the sham group. Resting-state functional connectivity (rsFC) between the rpSTS and the left cerebellum significantly decreased in the real group than the sham group after iTBS. At baseline, rsFC in the left cerebellum was negatively correlated with emotion recognition accuracy. Our findings indicated that iTBS of the rpSTS could improve emotion perception of ALT individuals by modulating associated neural networks. This stimulation protocol could be a vital therapeutic strategy for the treatment of ASD.

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22. Liu Q, Hsieh WY, Chen G. A systematic review and meta-analysis of parent-mediated intervention for children and adolescents with autism spectrum disorder in mainland China, Hong Kong, and Taiwan. Autism ;2020 (Jul 28):1362361320943380.

The ideal dosage for early intensive interventions for autism spectrum disorder has been suggested to be at least 25-hour per week to reach optimal effects. However, insufficient service use and unmet needs among families with children with autism spectrum disorder are frequently reported worldwide. Helping parents to develop strategies for interaction and management of behavior through parent training has been demonstrated to be a prominent way to supplementing service insufficiency for autism spectrum disorder, which is particularly crucial in less-resourced areas. This review included 21 parent-mediated intervention programs conducted in China, the most populated developing country. Among them, we were able to combine outcome information from 12 randomized controlled trials to increase confidence in the results. We also rated the quality of methodology and evidence for all included studies, which was taken into account in making conclusions. The included programs varied in the content, length, and delivery method of trainings. Although targeting different training outcomes, the majority of the studies aimed to help parents be more competent and responsive during interactions with their child in order to decrease symptom severity. Overall, results showed sufficient evidence that parent training did improve child outcomes as intended. However, the quality of more than half (14/21) of the included studies were below satisfactory. Identified programs lack the capacity to be further transported in the Chinese societies due to the lack of solid theoretical foundations, implementation manuals, and appropriate cultural adaptations. This review reinforces the need for promotion and improvement of parent-mediated interventions in low-resource context.

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23. Liu R, Dong H, Wang Y, Lu X, Li Y, Xun G, Ou J, Shen Y, Xia K, Zhao J. Sleep Problems of Children with Autism May Independently Affect Parental Quality of Life. Child Psychiatry Hum Dev ;2020 (Jul 28)

The current study explored how and to what extent sleep problems in children with autism spectrum disorder (ASD) impacted their parents’ quality of life (QOL). A total of 440 ASD children and 344 age-matched typically developing (TD) children were included in the case-control designed study. In the TD group, a linear regression model showed that the Children’s Sleep Habits Questionnaire (CSHQ) total scores were negatively associated with maternal mental health summary (MCS) scores in the SF-36v2 (β = - 2.831), while in the ASD group, the CSHQ total scores were negatively associated with the parental physical health summary (PCS) scores (β = - 3.030 for mothers, β = - 3.651 for fathers). Path analysis showed that sleep problems in ASD children had both direct and indirect effects on maternal PCS scores. The results indicated that sleep problems in children with ASD might affect parental QOL differently from TD children, and act as independent impact factors on parental physical health.

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24. Lugo J, Fadeuilhe C, Gisbert L, Setien I, Delgado M, Corrales M, Richarte V, Ramos-Quiroga JA. Sleep in adults with autism spectrum disorder and attention deficit/hyperactivity disorder : A systematic review and meta-analysis. Eur Neuropsychopharmacol ;2020 (Jul 22)

Sleep-related problems have been frequently reported in neurodevelopmental disorders, with special emphasis in Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD). The aim of the present study is to conduct a systematic review and meta-analysis on sleep disturbances in adults with ASD and/or ADHD (PROSPERO’s CRD42019132916). PubMed and PsycINFO were searched for studies reporting data on sleep objective/subjective measures, as well as prevalence data of sleep disorders, in adults with ASD and/or ADHD. A manual search was conducted throughout reference lists of eligible studies. A total of 1126 studies and 66 references were identified by electronic and manual searches, respectively. Of these, 42 studies were included in the meta-analysis. Results showed that both disorders share a similar sleep-impaired profile with higher sleep onset latency, poorer sleep efficiency, greater number of awakenings during sleep, and a general lower self-perceived sleep quality compared with healthy controls. A higher proportion of N1 sleep was found in ASD participants, while a greater Periodic Limb Movements in Sleep is specific in ADHD adults. More studies are needed, especially those directly comparing ASD and ADHD participants. Controlling for medication, intellectual disability, and concurrent psychiatric disorders is mandatory.

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25. Paula CS, Cukier S, Cunha GR, Irarrázaval M, Montiel-Nava C, Garcia R, Rosoli A, Valdez D, Bordini D, Shih A, Garrido G, Rattazzi A. Challenges, priorities, barriers to care, and stigma in families of people with autism : Similarities and differences among six Latin American countries. Autism ;2020 (Jul 27):1362361320940073.

Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries : Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent : one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child’s autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels.

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26. Pietropaolo S, Bellocchio L, Bouzón-Arnáiz I, Yee BK. The role of the endocannabinoid system in autism spectrum disorders : Evidence from mouse studies. Prog Mol Biol Transl Sci ;2020 ;173:183-208.

A substantive volume of research on autism spectrum disorder (ASD) has emerged in recent years adding to our understanding of the etiopathological process. Preclinical models in mice and rats have been highly instrumental in modeling and dissecting the contributions of a multitude of known genetic and environmental risk factors. However, the translation of preclinical data into suitable drug targets must overcome three critical hurdles : (i) ASD comprises a highly heterogeneous group of conditions that can markedly differ in terms of their clinical presentation and symptoms, (ii) the plethora of genetic and environmental risk factors suggests a complex, non-unitary, etiopathology, and (iii) the lack of consensus over the myriad of preclinical models, with respect to both construct validity and face validity. Against this backdrop, this Chapter traces how the endocannabinoid system (ECS) has emerged as a promising target for intervention with predictive validity. Recent supportive preclinical evidence is summarized, especially studies in mice demonstrating the emergence of ASD-like behaviors following diverse genetic or pharmacological manipulations targeting the ECS. The critical relevance of ECS to the complex pathogenesis of ASD is underscored by its multiple roles in modulating neuronal functions and shaping brain development. Finally, we argue that important lessons have been learned from the novel mouse models of ASD, which not only stimulate game-changing innovative treatments but also foster a consensual framework to integrate the diverse approaches applied in the search of novel treatments for ASD.

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27. Ptomey LT, Walpitage DL, Mohseni M, Dreyer Gillette ML, Davis AM, Forseth B, Dean EE, Waitman LR. Weight status and associated comorbidities in children and adults with Down syndrome, autism spectrum disorder and intellectual and developmental disabilities. J Intellect Disabil Res ;2020 (Jul 27)

BACKGROUND : Little is known about body weight status and the association between body weight and common comorbidities in children and adults with Down syndrome (DS), autism spectrum disorder (ASD) and other intellectual and developmental disabilities (IDDs). METHODS : Data were extracted from the University of Kansas Medical Center’s Healthcare Enterprise Repository for Ontological Narration clinical integrated data repository. Measures included demographics (sex, age and race), disability diagnosis, comorbid health conditions, height, weight and body mass index percentiles (BMI%ile ; <18 years of age) or BMI (≥18 years of age). RESULTS : Four hundred and sixty-eight individuals with DS (122 children and 346 adults), 1659 individuals with ASD (1073 children and 585 adults) and 604 individuals with other IDDs (152 children and 452 adults) were identified. A total of 47.0% (DS), 41.9% (ASD) and 33.5% (IDD) of children had overweight/obese (OW/OB), respectively. Children with DS were more likely to have OW/OB compared with children with IDD or ASD [odds ratio (OR) = 1.91, 95% confidence interval (CI) : (1.49, 2.46) ; OR = 1.43, 95% CI : (1.19, 1.72)], respectively. A total of 81.1% (DS), 62.1% (ASD), and 62.4% (IDD) of adults were OW/OB, respectively. Adults with DS were more likely to have OW/OB compared with those with IDD [OR = 2.56, 95% CI : (2.16, 3.02)]. No significant differences were observed by race. In children with ASD, higher OW/OB was associated with significantly higher (compared with non-OW/OB) occurrence of sleep apnoea [OR = 2.94, 95% CI : (2.22, 3.89)], hypothyroidism [OR = 3.14, 95% CI : (2.17, 4.25)] and hypertension [OR = 4.11, 95% CI : (3.05, 5.54)]. In adults with DS, OW/OB was significantly associated with higher risk of sleep apnoea and type 2 diabetes [OR = 2.93, 95% CI : (2.10, 4.09) ; OR = 1.76, 95% CI : (1.11, 2.79) respectively]. Similarly, in adults with ASD and IDD, OW/OB was significantly associated with higher risk of sleep apnoea [OR = 3.39, 95% CI : (2.37, 4.85) and OR = 6.69, 95% CI : (4.43, 10.10)], type 2 diabetes [OR = 2.25, 95 % CI : (1.68, 3.01) and OR = 5.49, 95% CI : (3.96, 7.61)] and hypertension [OR = 3.55, 95% CI : (2.76, 4.57) and 3.97, 95% CI : (3.17, 4.97)]. CONCLUSION : Findings suggest higher rates of OW/OB in individuals with DS compared with ASD and IDD. Given the increased risk of comorbidities associated with the increased risk of OW/OB, identification of effective interventions for this special population of individuals is critical.

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28. Reid N, Kron A, Lamanna D, Wen S, Durbin A, Rajakulendran T, Lunsky Y, Roy S, DuBois D, Stergiopoulos V. Building Bridges to Housing for homeless adults with intellectual and developmental disabilities : outcomes of a cross-sector intervention. J Appl Res Intellect Disabil ;2020 (Jul 26)

BACKGROUND : Adults with intellectual and developmental disabilities (IDD) have high rates of homelessness. This observational study evaluates Bridges to Housing, a cross-sector intervention offering immediate access to housing and supports to this population in Toronto, Canada. METHODS : Twenty-six participants, enrolled between April 2016 and December 2017, were assessed at baseline, six and 12 months post-enrolment. Descriptive statistics and generalized linear modelling evaluated quality of life (QOL) and service needs outcomes. Twenty-one service users and providers participated in semi-structured interviews between August 2017 and June 2018 to elicit their experiences of the intervention, which were analysed thematically. RESULTS : Twelve months post-enrolment, 24 participants were successfully housed and reported increased QOL scores (F(2,43) = 13.73, p = <.001) and decreased perceived unmet service needs (Wald χ(2) (2) = 12.93, p = .002). Individual-, intervention- and system-level characteristics facilitated housing stability in this population. CONCLUSIONS : Cross-sector approaches can improve outcomes for homeless adults with IDD and may have an important role in supporting this marginalized population.

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29. Rezae M, McMeekin D, Tan T, Krishna A, Lee H. Evaluating the effectiveness of an autism-specific public transport app for individuals on the autism spectrum : a pilot study. Disabil Rehabil Assist Technol ;2020 (Jul 28):1-16.

PURPOSE : Autism is characterised by differences in social skills, limited communication abilities and repetitive behaviour, which often result in increased reliance on other people. Transportation is but one task that is commonly burdened on family members. Public transport is an inexpensive and widely available form of travel which facilitates independence. However, it presents unique challenges for individuals on the spectrum, as it requires complex skills including, but not limited to, understanding abstract information (e.g., maps, service schedules, etc.), problem-solving unexpected situations and timely management of transfers. As such, most individuals on the autism spectrum do not use public transport and have never considered using it. Here we evaluate the effectiveness of an autism-specific public transport app, OrienTrip, with autistic individuals and allied health professionals. METHODS : A total of 16 individuals on the autism spectrum (eight male and eight female participants) and 22 allied health professionals (19 females and three male participants) were recruited for the pilot study. RESULTS : We found that OrienTrip is effective in facilitating public transport use for autistic individuals. Individuals on the autism spectrum expressed their satisfaction with the app and agreed that it makes public transport easy to use. Similarly, allied health professionals also indicated that OrienTrip is helpful in assisting autistic individuals use public transport safely. CONCLUSION : Our findings demonstrate that OrienTrip can be used to facilitate independent travel for individuals on the autism spectrum using public transport. This can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes. Implications for rehabilitation Individuals on the autism spectrum heavily rely on other people, namely family members, for their transportation needs. Public transport is an inexpensive and widely available form of travel which facilitates independence ; however, it presents unique challenges for autistic individuals, as such, most individuals do not use it or consider using it. In this research, we have developed and evaluated one of the first autism-specific public transport mobile apps that facilitates independent public transport use. This tool can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes.

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30. Saxena R, Babadi M, Namvarhaghighi H, Roullet FI. Role of environmental factors and epigenetics in autism spectrum disorders. Prog Mol Biol Transl Sci ;2020 ;173:35-60.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder thought to be caused by predisposing high-risk genes that may be altered during the early development by environmental factors. The impact of maternal challenges during pregnancy on the prevalence of ASD has been widely studied in clinical and animal studies. Here, we review some clinical and pre-clinical evidence that links environmental factors (i.e., infection, air pollution, pesticides, valproic acid and folic acid) and the risk of ASD. Additionally, certain prenatal environmental challenges such as the valproate and folate prenatal exposures allow us to study mechanisms possibly linked to the etiology of ASD, for instance the epigenetic processes. These mechanistic pathways are also presented and discussed in this chapter.

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31. Scuderi C, Verkhratsky A. The role of neuroglia in autism spectrum disorders. Prog Mol Biol Transl Sci ;2020 ;173:301-330.

Neuroglia are a large class of neural cells of ectodermal (astroglia, oligodendroglia, and peripheral glial cells) and mesodermal (microglia) origin. Neuroglial cells provide homeostatic support, protection, and defense to the nervous tissue. Pathological potential of neuroglia has been acknowledged since their discovery. Research of the recent decade has shown the key role of all classes of glial cells in autism spectrum disorders (ASD), although molecular mechanisms defining glial contribution to ASD are yet to be fully characterized. This narrative conceptualizes recent findings of the broader roles of glial cells, including their active participation in the control of cerebral environment and regulation of synaptic development and scaling, highlighting their putative involvement in the etiopathogenesis of ASD.

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32. Steinman G. The putative etiology and prevention of autism. Prog Mol Biol Transl Sci ;2020 ;173:1-34.

Since the initial psychological report by Leo Kanner in 1943, relatively little formal biochemical/neurological research on the cause of autism, other than peripheral searches for genomic mutations, had been carried until the end of the 20th century. As a result of studies on twin sets and the conclusion that autism was largely a hereditary defect, numerous investigations have sought various genetic faults in particular. However, such studies were able to reveal a plausible etiology for this malady in only a small percentage of instances. Key bio-molecular characteristics of this syndrome have been uncovered when the potential roles of the glia were studied in depth. Findings related to biochemical deficiencies appearing early in the newborn, such as depressed IGF-1 (insulin-like growth factor #1) in neurogenesis/myelination, are becoming emphasized in many laboratories. Progress leading to timely diagnoses and subsequent prevention of central nervous system dysconnectivity now seems plausible. The tendency for an infant to develop autism may currently be determinable and preventable before irreversible psychosocial disturbances become established. These discussions about glial function will be inter-spersed with comments about their apparent relevance to autism. The concluding portion of this presentation will be a detailed review and summation of this diagnosis and prevention proposition.

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33. Sue K, Mar N. Attitudes on Palliative Care for Adults with Developmental Disabilities. J Palliat Med ;2020 (Jul 28)

Background : Intellectual and Developmental Disabilities (IDD) are defined as physical/mental impairments before age 18. Not only are many IDD patients living into adulthood, but deinstitutionalization has also led to most living in community settings. Little is known about end-of-life needs in these adults, and existing literature does not examine attitudes of Canadian providers. Objective : Thematic and content analysis examined attitudes of Canadian Pediatric Palliative Care (PPC) practitioners on caring for adults with IDD to identify components of care, which could be improved. Design : An anonymized survey was created ( using open-ended and Likert-scale questions, with thematic/subthematic coding on NVivo11. Initial coding included a codebook, which was refined. Independent coding was compared with initial coding. Coded data were reanalyzed after demographic stratification, results discussed, and consensus reached. Settings/Subjects : All Canadian PPC centers responded through snowball sampling (25 of 36 [70%] practitioners). Measurements/Results : Major themes covered communication and decision making, lack of resources (including access to appropriate services), and knowledge/skill/experience gaps among adult palliative care and generalist practitioners. Gaps included complex medical conditions of IDD patients, trajectories, and related management. Knowledge ratings of adult palliative care and generalist practitioners by respondents were evenly distributed, but only pediatricians gave ratings of poor or worse. PPC practitioners are comfortable being consulted by adult palliative care and generalist colleagues. However, frequency of consults varied dramatically, from one to two times/month in British Columbia to never. Conclusions : PPC practitioners across Canada identified several major issues and barriers to optimal palliative care for adults with IDD.

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34. Thorsen M. Oxidative stress, metabolic and mitochondrial abnormalities associated with autism spectrum disorder. Prog Mol Biol Transl Sci ;2020 ;173:331-354.

Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired development and by abnormal function in regards to social interaction, communication and restricted, repetitive behavior. It affects approximately 1% of the worldwide population. Like other psychiatric disorders the diagnosis is based on observation of, and interview with the patient and next of kin, and diagnostic tests. Many genes have been associated with autism, but only few highly penetrant. Some researchers have instead focused on oxidative stress, metabolic abnormalities and mitochondrial dysfunction as an explanation of the disorder. Currently no cure exists for the disorder, making these abnormalities interesting as they are possibly correctable with supplements or treatment. These various processes cannot be seen independently as they are influencing and interacting with each other. Furthermore many of the metabolic changes seen in autism have also been shown in other psychiatric disorders such as attention deficit hyperactivity disorder, schizophrenia and bipolar disorder along with often comorbid disorders like epilepsy and intellectual disability. As such some of these abnormalities are not specific, however, could indicate a similar mechanism for the development of these disorders, with symptomatology and severity varying according to the location and the amount of damage done to proteins, cells and DNA. Clinical studies trying to treat these abnormalities, have widely been successful in correcting the metabolic abnormalities seen, but only some studies have also shown bettering of autistic symptoms. Hopefully with increased knowledge of the pathophysiology of the disorder, future preventive measures or treatment can be developed.

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35. Townend GS, Bartolotta TE, Urbanowicz A, Wandin H, Curfs LMG. Development of consensus-based guidelines for managing communication of individuals with Rett syndrome. Augment Altern Commun ;2020 (Jul 28):1-11.

Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements and recommendations extracted from a review of over 300 pieces of literature combined with survey responses from communication professionals and caregivers. All statements that reached a pre-determined threshold of ≥70% agreement were incorporated into guidelines that consist of 268 statements and recommendations relating to (a) rights of the individual ; (b) beliefs and attitudes of communication partners ; (c) professional knowledge and team work ; (d) strategies to optimize engagement ; (e) assessment ; and (f) intervention (targets and goals, techniques), including the use of AAC. To date, this project is the largest of its kind, with 650 participants from 43 countries contributing to development of consensus-based guidelines for Rett syndrome.

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36. Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature ;2020 (Jul 27)

Tandem DNA repeats vary by the size and sequence of each unit (motif). When expanded, they have been associated with more than 40 monogenic disorders(1). Their involvement in complex disorders is largely unknown, as is the extent of their heterogeneity. Here, we interrogated genome-wide characteristics of tandem repeats with 2-20-bp motifs in 17,231 genomes of families with autism(2,3) and population controls(4). We found extensive polymorphism in motif size and sequence. Many correlated with cytogenetic fragile sites. At 2,588 loci, gene-associated tandem repeat expansions that were rare among population controls were significantly more prevalent among individuals with autism than their unaffected siblings, particularly in exons and near splice junctions and in genes related to nervous system development and cardiovascular system or muscle. Rare tandem repeat expansions had a prevalence of 23.3% in autism-affected children versus 20.7% in unaffected children, suggesting a collective contribution to autism risk of 2.6%. They included novel autism-linked tandem repeat expansions in DMPK and FXN, known for neuromuscular conditions, and in novel loci such as FGF14 and CACNB1. These were associated with lower IQ and adaptive ability. Our results revealed a strong contribution of tandem DNA repeat expansions to the genetic etiology and phenotypic complexity of autism.

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37. Tsujiguchi H, Miyagi S, Nguyen TTT, Hara A, Ono Y, Kambayashi Y, Shimizu Y, Nakamura H, Suzuki K, Suzuki F, Nakamura H. Relationship between Autistic Traits and Nutrient Intake among Japanese Children and Adolescents. Nutrients ;2020 (Jul 28) ;12(8)

Increased food selectivity among children with autism spectrum disorder (ASD) may lead to nutritional inadequacy. The present study examined differences in nutrient intake between children and adolescents with and without ASD. We utilized cross-sectional data from the ongoing population Shika Town rural Japanese study. The participants were 1276 Japanese pupils and students aged between 7 and 15 years. ASD traits were evaluated using the Autism Spectrum Screening Questionnaire (ASSQ). Nutrient intake was assessed using a food frequency questionnaire. A one-way analysis of covariance (one-way ANCOVA) was performed to compare the mean nutrient intakes between participants with and without ASD traits. A two-way ANCOVA was conducted to compare the mean nutrient intakes among participants with and without ASD traits in different age groups (children and adolescents). The results obtained showed that the intake of carbohydrates and slightly lower intakes of protein, fat, calcium, magnesium, phosphorus, iron, zinc, retinol, vitamin B2, vitamin B12, folic acid, and pantothenic acid were higher among children and adolescents with ASD than among those without ASD. No interactions were observed between the autistic groups and age groups, excluding energy intakes. The present results indicate the importance of screening the nutrient intakes of ASD children and adolescents.

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38. Uddin LQ. Brain Mechanisms Supporting Flexible Cognition and Behavior in Adolescents With Autism Spectrum Disorder. Biol Psychiatry ;2020 (May 20)

Cognitive flexibility enables appropriate responses to a changing environment and is associated with positive life outcomes. Adolescence, with its increased focus on transitioning to independent living, presents particular challenges for youths with autism spectrum disorder (ASD) who often struggle to behave in a flexible way when faced with challenges. This review focuses on brain mechanisms underlying the development of flexible cognition during adolescence and how these neural systems are affected in ASD. Neuroimaging studies of task switching and set-shifting provide evidence for atypical lateral frontoparietal and midcingulo-insular network activation during cognitive flexibility task performance in individuals with ASD. Recent work also examines how intrinsic brain network dynamics support flexible cognition. These dynamic functional connectivity studies provide evidence for alterations in the number of transitions between brain states, as well as hypervariability of functional connections in adolescents with ASD. Future directions for the field include addressing issues related to measurement of cognitive flexibility using a combination of metrics with ecological and construct validity. Heterogeneity of executive function ability in ASD must also be parsed to determine which individuals will benefit most from targeted training to improve flexibility. The influence of pubertal hormones on brain network development and cognitive maturation in adolescents with ASD is another area requiring further exploration. Finally, the intriguing possibility that bilingualism might be associated with preserved cognitive flexibility in ASD should be further examined. Addressing these open questions will be critical for future translational neuroscience investigations of cognitive and behavioral flexibility in adolescents with ASD.

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39. Wang C. The impact of COVID-19 on autism research : Reflections from China. Autism Res ;2020 (Jul) ;13(7):1028.

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40. Wang J, Zhang P, Li W, Wen Q, Liu F, Xu J, Xu Q, Zhu D, Ye Z, Yu C. Right Posterior Insula and Putamen Volume Mediate the Effect of Oxytocin Receptor Polygenic Risk for Autism Spectrum Disorders on Reward Dependence in Healthy Adults. Cereb Cortex ;2020 (Jul 27)

Much evidence indicates the influence of the oxytocin receptor (OXTR) gene on autism spectrum disorders (ASDs), a set of disorders characterized by a range of deficits in prosocial behaviors, which are closely related to the personality trait of reward dependence (RD). However, we do not know the effect of the OXTR polygenic risk score for ASDs (OXTR-PRSASDs) on RD and its underlying neuroanatomical substrate. Here, we aimed to investigate associations among the OXTR-PRSASDs, gray matter volume (GMV), and RD in two independent datasets of healthy young adults (n = 450 and 540). We found that the individuals with higher OXTR-PRSASDs had lower RD and significantly smaller GMV in the right posterior insula and putamen. The GMV of this region showed a positive correlation with RD and a mediation effect on the association between OXTR-PRSASDs and RD. Moreover, the correlation map between OXTR-PRSASDs and GMV showed spatial correlation with OXTR gene expression. All results were highly consistent between the two datasets. These findings highlight a possible neural pathway by which the common variants in the OXTR gene associated with ASDs may jointly impact the GMV of the right posterior insula and putamen and further affect the personality trait of RD.

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41. Weiland RF, Polderman TJ, Hoekstra RA, Smit DJ, Begeer S. The Dutch Sensory Perception Quotient-Short in adults with and without autism. Autism ;2020 (Jul 28):1362361320942085.

Individuals on the autism spectrum often experience heightened or reduced sensory sensitivities. This feature was recently added to the diagnostic manual for autism (Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM-5)). To measure sensory sensitivities, the Sensory Perception Quotient (SPQ) has been developed. In this study, we tested whether a Dutch translation of the abridged SPQ-Short yields similar results as the original English version. We also tested whether this questionnaire can measure modality specific sensitivities. To this end, 657 adults with autism spectrum disorder and 585 adults without an autism spectrum disorder diagnosis filled out the Dutch SPQ-Short. The Dutch questionnaire data were very similar to the original English version : adults with autism spectrum disorder were more sensitive compared with adults without autism spectrum disorder. Women with autism spectrum disorder are more sensitive compared with men with autism spectrum disorder. Gender did not have an effect in the group without autism spectrum disorder. Individuals reporting higher sensory sensitivities also reported more autistic traits (such as lower social interests, or increased fascination for patterns). Finally, we found that the Dutch SPQ-Short is suited to measure modality-specific sensitivities. We conclude that the Dutch translation is a viable tool to measure sensory sensitivities in adults with and without autism spectrum disorder and can be used to further our understanding of differences in perception in people with or without autism spectrum disorder.

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42. Wolbert F, Stecker J, Luebbert C, Sadowski G. Viscosity of ASDs at humid conditions. Eur J Pharm Biopharm ;2020 (Jul 24)

Many amorphous solid dispersions (ASDs) are thermodynamically unstable. Thus, the active pharmaceutical ingredient (API) might crystallize over time. The crystallization kinetics and therewith the long-term stability of ASDs depends on the storage conditions temperature and relative humidity (RH) as they determine the molecular mobility of the API in the polymer. To quantify the molecular mobility, the rheological behavior of two different ASDs with ibuprofen and either poly(vinyl acetate) or poly(vinylpyrrolidone-co-vinyl acetate) was analyzed as function of temperature and relative humidity by means of an oscillatory rheometer. The plasticizing effect of ibuprofen and absorbed water on the zero-shear viscosity of the polymer could be fully explained by reducing of the glass-transition temperature of the mixture compared to the one of the pure polymer. Moreover, this work proposes an approach to predict the zero-shear viscosity of an ASD based on only the temperature dependence of the zero-shear viscosity of the pure polymer as well as the predicted water content in the ASD at certain RH using the Perturbed-Chain Statistical Associating Fluid Theory (PC-SAFT).

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43. Zakirova-Engstrand R, Hirvikoski T, Westling Allodi M, Roll-Pettersson L. Culturally diverse families of young children with ASD in Sweden : Parental explanatory models. PLoS One ;2020 ;15(7):e0236329.

BACKGROUND : Research suggests that families’ knowledge and cultural perceptions of autism spectrum disorder (ASD), and beliefs about its etiology and prognosis, can affect parents’ recognition of the first signs of autism in their children and influence help seeking and treatment decisions. OBJECTIVE : This study investigated explanatory models of autism among parents of young children with ASD in the multicultural context of Sweden. METHOD : Seventeen parents from diverse cultural, ethnic and linguistic backgrounds participated in semi-structured interviews. A deductive approach to qualitative content analysis was used to analyze data. Five domains of the Explanatory Model supplementary module of the Cultural Formulation Interview (CFI) were used as coding categories, operationalized as ’Parents’ understanding of autism’ ; ’Autism prototypes’ ; ’Causal explanations’ ; ’Course of autism’, and ’Help seeking and treatment expectations’. RESULTS : The results showed that parents’ prior knowledge of autism and experience of young children’s typical developmental trajectories, as well as the opinions of children’s grandparents and preschool teachers, affected symptom recognition and help seeking. There were differences in parents’ explanatory models before and after ASD diagnosis. Initial interpretations of the disorder included medical conditions and reaction to environmental influences, while genetic, supernatural/religious factors, and vaccinations were mentioned as definite causes after obtaining a clinical diagnosis. Parents also held multiple explanatory models, influenced by the views of family members and information obtained from media or from health care professionals. Parents’ treatment decisions included use of available state-funded support services, and complementary and alternative treatments. CONCLUSION : The results demonstrate the utility of the CFI’s Explanatory Model supplementary module in autism research. Implications for clinical practice are discussed.

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44. Zheng S, Chua YC, Tang C, Tan GM, Abdin E, Lim VWQ, Koh AS, Verma S, Magiati I. Autistic traits in first-episode psychosis : Rates and association with 1-year recovery outcomes. Early Interv Psychiatry ;2020 (Jul 24)

AIM : There is a growing appreciation that subthreshold but clinically elevated levels of autistic traits are clinically relevant. This study examined autistic traits in Singaporean patients with first-episode psychosis and their association with 1-year psychosis recovery. METHODS : The relationship between baseline patient characteristics, autistic traits (measured with autism screening questionnaires) and psychosis recovery outcomes at 1-year were examined in 180 adults in the Early Intervention Psychosis Programme in Singapore. RESULTS : Out of 180 participants, 50 (27.8%) had clinically elevated above screening-cut off levels of autistic traits on the self-reported 10-item Autism Spectrum Quotient and 8 (4.4%) on the staff-rated Autism Spectrum Disorder in Adults Screening Questionnaire. At baseline, those with more autistic traits were more likely to be unemployed, economically inactive (ie, students or homemakers) ; and to have diagnoses of mood disorder with psychotic features, brief psychotic disorder or psychotic disorder not otherwise specified as compared to schizophrenia spectrum and delusional disorder diagnoses. Although most participants showed improvements in their clinical outcomes at 1-year, those with higher autistic traits improved less in the Positive and Negative Syndrome Scale general psychopathology scale and in Global Assessment of Functioning symptomatology. CONCLUSIONS : Autistic traits are common in those with first-episode psychosis and may be associated with poorer clinical outcomes. Validated screening tools should be developed in this population to support earlier reporting.

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