Pubmed du 22/01/21

vendredi 22 janvier 2021

1. Balian A, Cirio S, Salerno C, Wolf TG, Campus G, Cagetti MG. Is Visual Pedagogy Effective in Improving Cooperation Towards Oral Hygiene and Dental Care in Children with Autism Spectrum Disorder ? A Systematic Review and Meta-Analysis. Int J Environ Res Public Health ;2021 (Jan 18) ;18(2)

Visual pedagogy has emerged as a new approach in improving dental care in children with autism spectrum disorders (ASDs). This paper aimed to evaluate and assess the scientific evidence on the use of visual pedagogy in improving oral hygiene skills and cooperation during dental care in children with ASDs. The review protocol was registered on the PROSPERO Register (CRD42020183030). Prospective clinical studies, randomized trials, interruptive case series, before and after comparison studies, and cross-sectional studies following the PRISMA guideline were searched in PubMed, Embase, Scopus, and Google Scholar using ad hoc prepared search strings. The search identified 379 papers, of which 342 were excluded after title and abstract evaluation, and 37 full-text papers were analyzed. An additional four papers were added after consulting reference lists. Eighteen papers were disregarded ; 23 were finally included, and their potential bias was assessed using ROB-2 and ROBINS-I tools. The wide heterogenicity of the studies included does not allow for conclusive evidence on the effectiveness of visual pedagogy in oral hygiene skills and dental care. Nevertheless, a significant and unilateral tendency of the overall outcomes was found, suggesting that visual pedagogy supports ASD children in improving both oral hygiene skills and cooperation during dental care.

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2. Bjørklund G, Doşa MD, Maes M, Dadar M, Frye RE, Peana M, Chirumbolo S. The impact of glutathione metabolism in autism spectrum disorder. Pharmacol Res ;2021 (Jan 22):105437.

This paper reviews the potential role of glutathione (GSH) in autism spectrum disorder (ASD). GSH plays a key role in the detoxification of xenobiotics and maintenance of balance in intracellular redox pathways. Recent data showed that imbalances in the GSH redox system are an important factor in the pathophysiology of ASD. Furthermore, ASD is accompanied by decreased concentrations of reduced GSH in part caused by oxidation of GSH into glutathione disulfide (GSSG). GSSG can react with protein sulfhydryl (SH) groups, thereby causing proteotoxic stress and other abnormalities in SH-containing enzymes in the brain and blood. Moreover, alterations in the GSH metabolism via its effects on redox-independent mechanisms are other processes associated with the pathophysiology of ASD. GSH-related regulation of glutamate receptors such as the N-methyl-D-aspartate receptor can contribute to glutamate excitotoxicity. Synergistic and antagonistic interactions between glutamate and GSH can result in neuronal dysfunction. These interactions can involve transcription factors of the immune pathway, such as activator protein 1 and nuclear factor (NF)-κB, thereby interacting with neuroinflammatory mechanisms, ultimately leading to neuronal damage. Neuronal apoptosis and mitochondrial dysfunction are recently outlined as significant factors linking GSH impairments with the pathophysiology of ASD. Moreover, GSH regulates the methylation of DNA and modulates epigenetics. Existing data support a protective role of the GSH system in ASD development. Future research should focus on the effects of GSH redox signaling in ASD and should explore new therapeutic approaches by targeting the GSH system.

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3. Cao W, Zhu H, Li Y, Wang Y, Bai W, Lao U, Zhang Y, Ji Y, He S, Zou X. The Development of Brain Network in Males with Autism Spectrum Disorders from Childhood to Adolescence : Evidence from fNIRS Study. Brain Sci ;2021 (Jan 18) ;11(1)

In the current study, functional near-infrared spectroscopy (fNIRS) was used to collect resting-state signals from 77 males with autism spectrum disorders (ASD, age : 6 16.25) and 40 typically developing (TD) males (age : 6 16.58) in the theory-of-mind (ToM) network. The graph theory analysis was used to obtain the brain network properties in ToM network, and the multiple regression analysis demonstrated that males with ASD showed a comparable global network topology, and a similar age-related decrease in the medial prefrontal cortex area (mPFC) compared to TD individuals. Nevertheless, participants with ASD showed U-shaped trajectories of nodal metrics of right temporo-parietal junction (TPJ), and an age-related decrease in the left middle frontal gyrus (MFG), while trajectories of TD participants were opposite. The nodal metrics of the right TPJ was negatively associated with the social deficits of ASD, while the nodal metrics of the left MFG was negatively associated with the communication deficits of ASD. Current findings suggested a distinct developmental trajectory of the ToM network in males with ASD from childhood to adolescence.

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4. Durbin A, Jung JKH, Chung H, Lin E, Balogh R, Lunsky Y. Health and service use of newcomers and other adults with intellectual and developmental disabilities : A population-based study. J Appl Res Intellect Disabil ;2021 (Jan 22)

BACKGROUND : This study examines newcomers with intellectual and developmental disabilities compared to other adults with intellectual and developmental disabilities in Ontario, Canada. METHODS : This population-based retrospective cohort study used linked health and social services administrative data to identify adults with intellectual and developmental disabilities as newcomers, or non-newcomers, and compared their health status and health service outcomes. RESULTS : Among those with intellectual and developmental disabilities, compared to non-newcomers, newcomers generally had lower or similar rates of health issues, except for higher rates of psychosis. Newcomers also had slightly greater use of community-based health services, but less hospital use. CONCLUSION : Trends among those with the intellectual and developmental disabilities were consistent with general population trends ; newcomers had lower rates of many health issues and lower hospital use. It also underscores the value of understanding drivers of heterogeneity within newcomers, such as the circumstances of admission and settlement in their new country.

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5. Fong VC, Gardiner E, Iarocci G. Cross-cultural perspectives on the meaning of family quality of life : Comparing Korean immigrant families and Canadian families of children with autism spectrum disorder. Autism ;2021 (Jan 22):1362361321989221.

The purpose of this study was to compare Korean immigrant families and Canadian families of children with autism in their perceptions and definitions of family quality of life. Interviews were done with 13 Korean immigrant parents and 12 Canadian parents of children with autism living in BC, Canada. For Korean immigrant families, three themes were identified : family cohesiveness, value orientation, and acceptance from society. For Canadian families, themes comprising family interactions, support, emotional well-being, individual characteristics, and comparisons to other families were essential elements in defining their family quality of life. The findings emphasize how differences in culture may impact how we understand and assess family functioning and quality of life. If research informing the development of these tools lacks cross-cultural perspectives, service providers and professionals may fail to address these families’ unique needs.

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6. Hedley D, Uljarević M, Cai RY, Bury SM, Stokes MA, Evans DW. Domains of the autism phenotype, cognitive control, and rumination as transdiagnostic predictors of DSM-5 suicide risk. PLoS One ;2021 ;16(1):e0245562.

Suicide is a global health problem affecting both normative and clinical populations. Theoretical models that examine mechanisms underlying suicide risk across heterogeneous samples are needed. The present study explored core characteristics associated with autism spectrum disorder (ASD), a sub-population at high risk of suicide, as well as two dimensional cognitive constructs, as potential transdiagnostic predictors of suicidal ideation in a clinically diverse sample. Participants (n = 1851, 62% female) aged 18 to 89 years completed online questionnaires assessing : social communication difficulties ; insistence on sameness ; cognitive control ; and rumination. Forty-three percent of participants reported the presence of at least one neurodevelopmental or neuropsychiatric disorder. One third of the sample reported some suicidal ideation (SI), and 40 percent met the threshold for concern for depression. All hypothesized constructs were associated with SI and depression and, with the exception of rumination, contributed significantly to SI. Participants reporting SI returned significantly higher social communication difficulties and insistence on sameness, and lower levels of cognitive control than those reporting no-SI. The study was limited by the use of a cross-sectional sample assessed with self-report measures. All diagnoses were self-reported and the study was additionally limited by the use of a single item indicator of suicidal ideation. These findings support a role for constructs associated with the ASD phenotype and associated broad cognitive domains as potential risk factors underlying suicidal ideation in a large clinically diverse sample. Our findings suggest directions for future longitudinal research studies, along with specific targets for suicide prevention and clinical practice.

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7. Hoffmann A, Spengler D. Chromatin Remodeler CHD8 in Autism and Brain Development. J Clin Med ;2021 (Jan 19) ;10(2)

Chromodomain Helicase DNA-binding 8 (CHD8) is a high confidence risk factor for autism spectrum disorders (ASDs) and the genetic cause of a distinct neurodevelopmental syndrome with the core symptoms of autism, macrocephaly, and facial dysmorphism. The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understood regarding how mutations in CHD8 underpin altered brain function and mental disease. Studies on various model organisms have been proven critical to tackle this challenge. Here, we scrutinize recent advances in this field with a focus on phenotypes in transgenic animal models and highlight key findings on neurodevelopment, neuronal connectivity, neurotransmission, synaptic and homeostatic plasticity, and habituation. Against this backdrop, we further discuss how to improve future animal studies, both in terms of technical issues and with respect to the sex-specific effects of Chd8 mutations for neuronal and higher-systems level function. We also consider outstanding questions in the field including ’humanized’ mice models, therapeutic interventions, and how the use of pluripotent stem cell-derived cerebral organoids might help to address differences in neurodevelopment trajectories between model organisms and humans.

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8. Lidstone DE, Rochowiak R, Mostofsky SH, Nebel MB. A Data Driven Approach Reveals That Anomalous Motor System Connectivity is Associated With the Severity of Core Autism Symptoms. Autism Res ;2021 (Jan 22)

This study examined whether disruptions in connectivity involving regions critical for learning, planning, and executing movements are relevant to core autism symptoms. Spatially constrained ICA was performed using resting-state fMRI from 419 children (autism spectrum disorder (ASD) = 105 ; typically developing (TD) = 314) to identify functional motor subdivisions. Comparing the spatial organization of each subdivision between groups, we found voxels that contributed significantly less to the right posterior cerebellar component in children with ASD versus TD (P <0.001). Next, we examined the effect of diagnosis on right posterior cerebellar connectivity with all other motor subdivisions. The model was significant (P = 0.014) revealing that right posterior cerebellar connectivity with bilateral dorsomedial primary motor cortex was, on average, stronger in children with ASD, while right posterior cerebellar connectivity with left-inferior parietal lobule (IPL), bilateral dorsolateral premotor cortex, and supplementary motor area was stronger in TD children (all P ≤0.02). We observed a diagnosis-by-connectivity interaction such that for children with ASD, elevated social-communicative and excessive repetitive-behavior symptom severity were both associated with right posterior cerebellar-left-IPL hypoconnectivity (P ≤0.001). Right posterior cerebellar and left-IPL are strongly implicated in visuomotor processing with dysfunction in this circuit possibly leading to anomalous development of skills, such as motor imitation, that are crucial for effective social-communication. LAY SUMMARY : This study examines whether communication between various brain regions involved in the control of movement are disrupted in children with autism spectrum disorder (ASD). We show communication between the right posterior cerebellum and left IPL, a circuit important for efficient visual-motor integration, is disrupted in children with ASD and associated with the severity of ASD symptoms. These results may explain observations of visual-motor integration impairments in children with ASD that are associated with ASD symptom severity.

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9. Liu G, Wang S, Liao J, Ou P, Huang L, Xie N, He Y, Lin J, He HG, Hu R. The efficacy of WeChat-based parenting training on the psychological well-being of mothers with autistic children during the COVID-19 pandemic : A quasi-experimental study. JMIR Ment Health ;2021 (Jan 19)

BACKGROUND : During the COVID-19 pandemic, special education schools for children in most areas of China were closed between the end of January and the beginning of June in 2020. The sudden interruptions of schooling and the pandemic itself caused parents to be anxious and to even panic. Mobile parenting skills education has been proved to be an effective method in improving the psychological well-being of mothers with autistic children. However, whether it can improve the psychological states of mothers in the context of the COVID-19 pandemic is an urgent subject to be investigated. OBJECTIVE : To evaluate the efficacy of WeChat-based parenting training (WBPT) on anxiety, depression, parenting stress, and hope for mothers with autistic children as well as the feasibility of the program during the COVID-19 pandemic. METHODS : This was a quasi-experimental trial. A total of 125 mothers with preschool autistic children were recruited in January 2020. The participants were assigned into the control group (n=60), receiving routine care, or the intervention group (n=65), receiving the 12-week WBPT plus routine care according to their preferences. Anxiety, depression, parenting stress, hope, satisfaction, and adherence to the intervention were measured at three timepoints : the baseline (T0), post-intervention (T1), and 20 weeks follow-up (T2). RESULTS : One hundred and nine mothers completed the T1 assessment and 104 mothers completed the T2 assessment. The results of the linear mixed model analysis showed statistically significant group*time interaction effects for the intervention on anxiety (F=14.219, P<.001), depression (F=26.563, P<.001), parenting stress (F=68.572, P<.001), and hope (F=197.608, P<.001). Of all mothers in the intervention group, 90.4% reported that they were extremely satisfied with the WBPT. In total, 40.0% kept the logging recordings for home training each week and 61.5% kept more than 80% for all 20 weeks. CONCLUSIONS : The WBPT is acceptable and appears to be an effective approach for reducing anxiety, depression, and parenting stress and increasing hope in mothers with autistic children during the global COVID-19 pandemic. Future studies with rigorous designs and longer follow-up periods are needed to further detect the effectiveness of the WBPT. CLINICALTRIAL : Chinese Clinical Trial Registry, ChiCTR2000031772 ;

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10. Luhach K, Kulkarni GT, Singh VP, Sharma B. Effect of papaverine on developmental hyperserotonemia induced autism spectrum disorder related behavioural phenotypes by altering markers of neuronal function, inflammation, and oxidative stress in rats. Clin Exp Pharmacol Physiol ;2021 (Jan 21)

Hyperserotonemia, in the early developmental phase, generates a variety of behavioural and biochemical phenotypes associated with autism spectrum disorder (ASD) in rats. Papaverine is known to provide benefits in various brain conditions. We investigated the role of a selective phosphodiesterase-10A (PDE10A) inhibitor, papaverine on ASD related behavioural phenotypes (social behaviour deficits, repetitive behaviour, anxiety and hyperlocomotion) in developmental hyperserotonemia (DHS) rat model. Also, effects on important biochemical markers related with neuronal function (brain-derived neurotrophic factor (BDNF)-neuronal survival and phosphorylated-cAMP response element binding protein (pCREB)-neuronal transcription factor), brain inflammation (interleukin (IL)-6, IL-10 and tumour necrosis factor (TNF)-α) and brain oxidative stress (TBARS and GSH) were studied in important brain areas (frontal cortex, cerebellum, hippocampus and striatum). Administration of a non-selective serotonin receptor agonist, such as 5-methoxytryptamine (5-MT) to rats prenatally (gestational day 12 - day of parturition) and during early stages (postnatal day (PND) 0 -PND20) of development, resulted in impaired behaviour and brain biochemistry. Administration of papaverine (15/30 mg/kg ip) to 5-MT administered rats from PND21 to PND48, resulted in improvement of behavioural deficits. Also, papaverine administration significantly increased the levels of BDNF, pCREB/CREB, IL-10, GSH and significantly decreased TNF-α, IL-6 and TBARS levels in different brain areas. Papaverine, in both doses rectified important behavioural phenotypes related with ASD, the higher dose (30 mg/kg ip) showed significantly greater improvement than 15 mg/kg ip, possibly by improving neuronal function, brain inflammation and brain oxidative stress. Thus, PDE10A could be a probable target for pharmacological interventions and furthering our understanding of ASD pathogenesis.

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11. Marino L, Lilienfeld SO. Third time’s the charm or three strikes you’re out ? An updated review of the efficacy of dolphin-assisted therapy for autism and developmental disabilities. J Clin Psychol ;2021 (Jan 22)

CONTEXT : Dolphin-assisted therapy (DAT) is a popular form of animal-assisted therapy for autism spectrum disorders and other psychological conditions. OBJECTIVE : In this review, our third, we analyze the most recent DAT studies in terms of construct and internal validity criteria to determine if there is empirical support for DAT. METHOD : To ensure a systematic review, we searched for peer-reviewed studies on DAT by submitting relevant search terms to Google Scholar from 2007 to 2020, conducted a further search of all DAT papers in several peer-reviewed journals, and reviewed reference sections of DAT articles to ensure a thorough review of the literature between 2007 and the present. RESULTS : The DAT literature continues to be marked by several weaknesses in both internal and construct validity that preclude confident inferences regarding the intervention’s efficacy. CONCLUSION : There is still insufficient evidence that DAT has therapeutic value.

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12. McKenzie K, Murray GC, Martin R. ’It’s been adapted rather than impacted’ : A qualitative evaluation of the impact of Covid-19 restrictions on the positive behavioural support of people with an intellectual disability and/or autism. J Appl Res Intellect Disabil ;2021 (Jan 22)

BACKGROUND : We used a qualitative approach to explore the experiences of social care staff regarding the provision of positive behavioural support (PBS) to people with an intellectual disability at the height of the Covid-19 restrictions. METHOD : We conducted semi-structured interviews with 19 staff who had recently completed a PBS workforce development programme. Data were analysed using thematic analysis. RESULTS : Three themes were identified in the context of the restrictions : The challenges to maintaining quality of life and PBS of the people being supported and staff attempts to overcome these ; the ways in which PBS and behaviour support plans were implemented and the impact on behaviours that challenge ; the ways in which PBS principles were applied at organisational levels to help to understand and address staff stress and distress. CONCLUSIONS : Overall, the staff identified many unexpected benefits of the restrictions. The results are discussed in the context of the study limitations.

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13. Moradimanesh Z, Khosrowabadi R, Eshaghi Gordji M, Jafari GR. Altered structural balance of resting-state networks in autism. Sci Rep ;2021 (Jan 21) ;11(1):1966.

What makes a network complex, in addition to its size, is the interconnected interactions between elements, disruption of which inevitably results in dysfunction. Likewise, the brain networks’ complexity arises from interactions beyond pair connections, as it is simplistic to assume that in complex networks state of a link is independently determined only according to its two constituting nodes. This is particularly of note in genetically complex brain impairments, such as the autism spectrum disorder (ASD), which has a surprising heterogeneity in manifestations with no clear-cut neuropathology. Accordingly, structural balance theory (SBT) affirms that in real-world signed networks, a link is remarkably influenced by each of its two nodes’ interactions with the third node within a triadic interrelationship. Thus, it is plausible to ask whether ASD is associated with altered structural balance resulting from atypical triadic interactions. In other words, it is the abnormal interplay of positive and negative interactions that matters in ASD, besides and beyond hypo (hyper) pair connectivity. To address this question, we explore triadic interactions based on SBT in the weighted signed resting-state functional magnetic resonance imaging networks of participants with ASD relative to healthy controls (CON). We demonstrate that balanced triads are overrepresented in the ASD and CON networks while unbalanced triads are underrepresented, providing first-time empirical evidence for the strong notion of structural balance on the brain networks. We further analyze the frequency and energy distributions of different triads and suggest an alternative description for the reduced functional integration and segregation in the ASD brain networks. Moreover, results reveal that the scale of change in the whole-brain networks’ energy is more narrow in the ASD networks during development. Last but not least, we observe that energy of the salience network and the default mode network are lower in ASD, which may be a reflection of the difficulty in dynamic switching and flexible behaviors. Altogether, these results provide insight into the atypical structural balance of the ASD brain (sub) networks. It also highlights the potential value of SBT as a new perspective in functional connectivity studies, especially in the case of neurodevelopmental disorders.

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14. Norouzi Ofogh S, Rasoolijazi H, Shahsavand Ananloo E, Shahrivar Z, Joghataei MT, Sadeghi B, Bozorgmehr A, Alizadeh F. Alteration of TRIM33 Expression at Transcriptional and Translational Levels is Correlated with Autism Symptoms. J Mol Neurosci ;2021 (Jan 22)

As a complex neurodevelopmental disorder, autism affects children in three major cognitive domains including social interactions, language learning and repetitive stereotyped behaviors. Abnormal regulation of cell proliferation in the brain during the embryonic period via the TGF-β signaling pathway and TRIM33 gene that encodes a protein with a corepressor and regulatory role in this pathway has been considered as an etiology for autism. Here, we investigated the association of a variation of TRIM33 with autism symptoms at levels of mRNA and protein expression. We used Autism Diagnostic Interview-Revised (ADI-R) and Childhood Autism Rating Scale (CARS) as behavioral diagnostic tools. Normal and autistic children were genotyped for a TRIM33 polymorphism (rs11102807), and then expression was assessed at transcriptional and translational levels. Results demonstrated that the frequency of the homozygous A allele (AA genotype of rs11102807) was significantly higher in children with autism (P < 0.001), whereas carriers of the G allele were mostly among healthy individuals. Children homozygous for the rs11102807 A allele were associated with an increase in CARS and ADI-R scores, indicating a significant correlation with autism symptoms. TRIM33 gene expression at both mRNA (P < 0.01) and protein (P < 0.001) levels was significantly higher in controls compared to autistic children. A remarkable association between higher TRIM33 gene expression at the transcriptional level and lower scores for both CARS and ADI-R was observed in non-autistic children. It seems that rs11102807 modulates the function and expression of the TRIM33 gene, implying that the A allele may increase the risk of autism in children by reducing gene expression and altering the TGF-β signaling pathway.

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15. Øien RA, Vivanti G, Robins DL. Editorial S.I : Early Identification in Autism Spectrum Disorders : The Present and Future, and Advances in Early Identification. J Autism Dev Disord ;2021 (Jan 22)

Early identification of autism spectrum disorder (ASD) is considered by most scholars and clinicians to be a feasible and useful step for improving the wellbeing of individuals on the autism spectrum and their families. Arguments supporting early detection efforts include the benefit of earlier access to services providing autism-specific evidence-based interventions (Vivanti et al., Journal of Autism and Developmental Disorders, 46(7), 2441-2449, 2016 ; Zwaigenbaum et al., Pediatrics, 136(Suppl), S10-S40, 2015), and its potential to mitigate or even prevent the challenges associated with ASD symptoms, reduce care costs, and improve the quality of life and productivity of individuals with ASD (Constantino et al., Pediatrics, 146(3), e20193629, 2020 ; Jacobson et al., Behavioral Interventions, 13(4), 201-226, 1998 ; Jacobson and Mulick, Journal of Autism and Developmental Disorders, 30(6), 585-593, 2000). Nevertheless, controversies and challenges in this field exist.

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16. Palser ER, Galvez-Pol A, Palmer CE, Hannah R, Fotopoulou A, Pellicano E, Kilner JM. Reduced differentiation of emotion-associated bodily sensations in autism. Autism ;2021 (Jan 22):1362361320987950.

More research has been conducted on how autistic people understand and interpret other people’s emotions, than on how autistic people experience their own emotions. The experience of emotion is important however, because it can relate to difficulties like anxiety and depression, which are common in autism. In neurotypical adults and children, different emotions have been associated with unique maps of activity patterns in the body. Whether these maps of emotion are comparable in autism is currently unknown. Here, we asked 100 children and adolescents, 45 of whom were autistic, to color in outlines of the body to indicate how they experienced seven emotions. Autistic adults and children sometimes report differences in how they experience their internal bodily states, termed interoception, and so we also investigated how this related to the bodily maps of emotion. In this study, the autistic children and adolescents had comparable interoception to the non-autistic children and adolescents, but there was less variability in their maps of emotion. In other words, they showed more similar patterns of activity across the different emotions. This was not related to interoception, however. This work suggests that there are differences in how autistic people experience emotion that are not explained by differences in interoception. In neurotypical people, less variability in emotional experiences is linked to anxiety and depression, and future work should seek to understand if this is a contributing factor to the increased prevalence of these difficulties in autism.

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17. Paul S, Arora A, Midha R, Vu D, Roy PK, Belmonte MK. Autistic traits and individual brain differences : functional network efficiency reflects attentional and social impairments, structural nodal efficiencies index systemising and theory-of-mind skills. Mol Autism ;2021 (Jan 21) ;12(1):3.

BACKGROUND : Autism is characterised not only by impaired social cognitive ’empathising’ but also by superior rule-based ’systemising’. These cognitive domains intertwine within the categorical diagnosis of autism, yet behavioural genetics suggest largely independent heritability, and separable brain mechanisms. We sought to determine whether quantitative behavioural measures of autistic traits are dimensionally associated with structural and functional brain network integrity, and whether brain bases of autistic traits vary independently across individuals. METHODS : Thirty right-handed neurotypical adults (12 females) were administered psychometric (Social Responsiveness Scale, Autism Spectrum Quotient and Systemising Quotient) and behavioural (Attention Network Test and theory-of-mind reaction time) measures of autistic traits, and structurally (diffusion tensor imaging) and functionally (500 s of 2 Hz eyes-closed resting fMRI) derived graph-theoretic measures of efficiency of information integration were computed throughout the brain and within subregions. RESULTS : Social impairment was positively associated with functional efficiency (r = .47, p = .006), globally and within temporo-parietal and prefrontal cortices. Delayed orienting of attention likewise was associated with greater functional efficiency (r = - .46, p = .0133). Systemising was positively associated with global structural efficiency (r = .38, p = 0.018), driven specifically by temporal pole ; theory-of-mind reaction time was related to structural efficiency (r = - .40, p = 0.0153) within right supramarginal gyrus. LIMITATIONS : Interpretation of these relationships is complicated by the many senses of the term ’connectivity’, including functional, structural and computational ; by the approximation inherent in group functional anatomical parcellations when confronted with individual variation in functional anatomy ; and by the validity, sensitivity and specificity of the several survey and experimental behavioural measures applied as correlates of brain structure and function. CONCLUSIONS : Functional connectivities highlight distributed networks associated with domain-general properties such as attentional orienting and social cognition broadly, associating more impaired behaviour with more efficient brain networks that may reflect heightened feedforward information flow subserving autistic strengths and deficits alike. Structural connectivity results highlight specific anatomical nodes of convergence, reflecting cognitive and neuroanatomical independence of systemising and theory-of-mind. In addition, this work shows that individual differences in theory-of-mind related to brain structure can be measured behaviourally, and offers neuroanatomical evidence to pin down the slippery construct of ’systemising’ as the capacity to construct invariant contextual associations.

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18. Ramirez-Celis A, Becker M, Nuño M, Schauer J, Aghaeepour N, Van de Water J. Risk assessment analysis for maternal autoantibody-related autism (MAR-ASD) : a subtype of autism. Mol Psychiatry ;2021 (Jan 22)

The incidence of autism spectrum disorder (ASD) has been rising, however ASD-risk biomarkers remain lacking. We previously identified the presence of maternal autoantibodies to fetal brain proteins specific to ASD, now termed maternal autoantibody-related (MAR) ASD. The current study aimed to create and validate a serological assay to identify ASD-specific maternal autoantibody patterns of reactivity against eight previously identified proteins (CRMP1, CRMP2, GDA, NSE, LDHA, LDHB, STIP1, and YBOX) that are highly expressed in developing brain, and determine the relationship of these reactivity patterns with ASD outcome severity. We used plasma from mothers of children diagnosed with ASD (n = 450) and from typically developing children (TD, n = 342) to develop an ELISA test for each of the protein antigens. We then determined patterns of reactivity a highly significant association with ASD, and discovered several patterns that were ASD-specific (18% in the training set and 10% in the validation set vs. 0% TD). The three main patterns associated with MAR ASD are CRMP1 + GDA (ASD% = 4.2 vs. TD% = 0, OR 31.04, p = <0.0001), CRMP1 + CRMP2 (ASD% = 3.6 vs. TD% = 0, OR 26.08, p = 0.0005) and NSE + STIP1 (ASD% = 3.1 vs. TD% = 0, OR 22.82, p = 0.0001). Additionally, we found that maternal autoantibody reactivity to CRMP1 significantly increases the odds of a child having a higher Autism Diagnostic Observation Schedule (ADOS) severity score (OR 2.3 ; 95% CI : 1.358-3.987, p = 0.0021). This is the first report that uses machine learning subgroup discovery to identify with 100% accuracy MAR ASD-specific patterns as potential biomarkers of risk for a subset of up to 18% of ASD cases in this study population.

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19. Ratanatharathorn A, Koenen KC, Chibnik LB, Weisskopf MG, Rich-Edwards JW, Roberts AL. Polygenic risk for autism, attention-deficit hyperactivity disorder, schizophrenia, major depressive disorder, and neuroticism is associated with the experience of childhood abuse. Mol Psychiatry ;2021 (Jan 22)

People who experience childhood abuse are at increased risk of mental illness. Twin studies suggest that inherited genetic risk for mental illness may account for some of these associations. Yet, the hypothesis that individuals who have experienced childhood abuse may carry genetic loading for mental illness has never been tested with genetic data. Using polygenic risk scores for six psychiatric disorders-attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), neuroticism, and schizophrenia-we tested whether genetic risk for mental illness was associated with increased risk of experiencing three types of childhood abuse : physical/emotional abuse, physical assault, and sexual abuse, in a cohort of white non-Hispanic women (n = 11,315). ADHD and MDD genetic risk scores were associated with a higher risk of experiencing each type of childhood abuse, while neuroticism, schizophrenia, BPD, and ASD genetic scores were associated with a higher risk of experiencing physical/emotional abuse and physical assault, but not sexual abuse. Sensitivity analyses examining potential bias from the differential recall of childhood trauma, parental socioeconomic status, and population stratification were consistent with the main findings. A one-standard-deviation increase in genetic risk for mental illness was associated with a modestly elevated risk of experiencing childhood abuse (OR range : 1.05-1.19). Therefore, inherited genetic risk may partly account for the association of childhood abuse with mental illness. In addition, future treatments for mental illness will benefit from taking into consideration the co-occurrence of childhood trauma and genetic loading.

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20. Rodgers M, Simmonds M, Marshall D, Hodgson R, Stewart LA, Rai D, Wright K, Ben-Itzchak E, Eikeseth S, Eldevik S, Kovshoff H, Magiati I, Osborne LA, Reed P, Vivanti G, Zachor D, Couteur AL. Intensive behavioural interventions based on applied behaviour analysis for young children with autism : An international collaborative individual participant data meta-analysis. Autism ;2021 (Jan 22):1362361320985680.

Early intensive applied behaviour analysis-based interventions are designed to support young autistic children’s learning and development. Unfortunately, the available evidence about the effectiveness of these interventions remains unclear. Several reviews have focused on the published findings rather than contacting the authors to collect and analyse data about the individual participants in the original studies. Also, most of the studies were carried out by groups involved in delivering the interventions leading to the potential bias in interpreting the results. Our research team (supported by an international advisory group) carried out an independent individual patient data review by collecting the original participant data from the authors of the studies, to examine the effectiveness of these interventions. The results suggested that early intensive applied behaviour analysis-based interventions might lead to some changes in children’s cognitive ability (intelligence quotient) and everyday life skills after 2 years, compared with standard treatments. However, all the studies had problems with the way they were designed. Also, few of the studies looked at outcomes that have been described as most important to autistic people or followed children beyond 2 years. We think that further systematic reviews of the existing evidence are unlikely to add to the findings of our review. Furthermore, we recommend that future research should investigate which types of supports and interventions are most effective for children and families, prioritising outcomes measures that are meaningful for the autism community and include, wherever possible, longer-term follow-up.

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21. Romeo DM, Brogna C, Belli A, Lucibello S, Cutrona C, Apicella M, Mercuri E, Mariotti P. Sleep Disorders in Autism Spectrum Disorder Pre-School Children : An Evaluation Using the Sleep Disturbance Scale for Children. Medicina (Kaunas) ;2021 (Jan 22) ;57(2)

Background and Objectives : Sleep disorders are common in children with Autism Spectrum Disorder (ASD). The aims of this study were to describe the incidence and characteristics of sleep disorders using a questionnaire completed by the caregiver in a sample of preschool-aged children with ASD and to identify possible differences in a control group of peers. Materials and Methods : Sleep disorders were investigated with the Sleep Disturbance Scale for Children (SDSC) in a population of pre-school-aged (3-5 years) ASD children and in a control group. The Autism Diagnostic Observation Schedule-second ed. (ADOS-2) was further used to assess autism symptom severity. A total of 84 children (69 males ; mean age 3.9 ± 0.8 years) with a diagnosis of ASD and 84 healthy controls (65 males ; mean age of 3.7 ± 0.8 years) that were matched for age and sex were enrolled. Results : ASD children reported significantly higher (pathological) scores than the control group on the SDSC total scores and in some of the factor scores, such as Difficulty in Initiating and Maintaining Sleep (DIMS), disorders of excessive somnolence (DOES), and sleep hyperhidrosis. A total of 18% of ASD children had a pathological SDSC total T-score, and 46% had an abnormal score on at least one sleep factor ; DIMS, parasomnias, and DOES showed the highest rates among the sleep factors. Younger children (3 years) reported higher scores in DIMS and sleep hyperhidrosis than older ones (4 and 5 years). No specific correlation was found between ADOS-2 and SDSC scores. Conclusions : Pre-school children with ASD showed a high incidence of sleep disorders with different distributions of specific sleep factors according to their age. We suggest a screening assessment of sleep disorders using the SDSC in these children with a more in-depth evaluation for those reporting pathological scores on the questionnaire.

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22. Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol ;2021 (Jan 22)

OBJECTIVE : The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number of disease-modifying therapeutics are currently under development, there is a pressing need for biomarkers to objectively and precisely assess the effectiveness of these treatments. METHOD : Yearly visual (VEP) and auditory (AEP) evoked potentials were acquired from individuals with RTT, aged 2 to 37 years, and control participants across five sites as part of the Rett Syndrome and Related Disorders Natural History Study. Baseline and Year 1 data, when available, were analyzed and the repeatability of the results was tested. Two syndrome-specific measures from the Natural History Study were used for evaluating the clinical relevance of the VEP and AEP parameters. RESULTS : At the baseline study, group level comparisons revealed reduced VEP and AEP amplitude in RTT compared to control participants. Further analyses within the RTT group indicated that this reduction was associated with RTT-related symptoms, with greater severity associated with lower VEP and AEP amplitude. In participants with RTT, VEP and AEP amplitude was also negatively associated with age. Year 1 follow-up data analyses yielded similar findings and evidence of repeatability of EPs at the individual level. INTERPRETATION : The present findings indicate the promise of EPs as an objective measure of disease severity in individuals with RTT. Our multisite approach demonstrates potential research and clinical applications to provide unbiased assessment of disease staging, prognosis, and response to therapy. This article is protected by copyright. All rights reserved.

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23. Tse HM. Letter to the Editor : Misquoting the ASD Prevalence Rate for Hong Kong : Comment on Tse (2020). J Autism Dev Disord ;2021 (Jan 22)

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24. Wang F, Wen F, Yu L, Yan J, Liu J, Li Y, Cui Y. The efficacy and safety in attention deficit hyperactivity disorder of second-generation antipsychotics and other medications for hyperactivity in children and adolescents with autism : a meta-analysis. Int Clin Psychopharmacol ;2021 (Jan 22)

Children and adolescents with ASD also have co-occurrence of attention deficit hyperactivity disorder (ADHD) symptoms. ADHD symptoms, especially hyperactivity, greatly increased the severity of autism symptoms. This study concentrated on two widely-used medications : the second generation of antipsychotics (SGAs) and ADHD medication, aiming to conduct a meta-analysis about their effect on hyperactivity, so it would offer some evidence for clinical medication choice. The Medline, Embase, Cochrane Central Register of Controlled Trials and China National Knowledge Infrastructure databases were searched from inception to July 2019 for studies exploring the use of SGAs and ADHD medications in autistic children and adolescents. Double-blind, randomized controlled trials that reported hyperactivity as an outcome were included in the study. A total of thirteen trials with 712 participants were included in our meta-analysis. For SGAs, the standardized mean difference (SMD) of hyperactivity subscale in Aberrant behavior checklist scale or conners rating scales was 0.59, 95% confidence interval (CI) : 0.23-0.96, I2 = 74%, Q = 15.34, P < 0.01. For ADHD medications, SMD was -0.66, with 95% CI : -0.99 to 0.33, I2 = 53%, Q = 15.02, P = 0.04. As for adverse events, in the SGAs group, somnolence had the largest effect size, risk ratio = 5.62, 95% CI : 3.20- 9.87 (I2 = 0%, Q = 2.45, P = 0.65). In ADHD group, the side effect of decreased appetite showed the largest effect size (risk ratio = 2.63, 95% CI = 0.99-7.01, I2 = 65.7%, Q = 11.66, P = 0.02). Both ADHD medications and SGAs were effective in dealing with hyperactivity in children and adolescents with autism but were shown to increase the risk of decreased appetite, somnolence, headache and nausea or vomiting. The clinical use of these medications should carefully weigh the benefits and risks.

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25. Wiggins LD, Nadler C, Rosenberg S, Moody E, Reyes N, Reynolds A, Alexander A, Daniels J, Thomas K, Giarelli E, Levy SE. Many Young Children with Autism Who Use Psychotropic Medication Do Not Receive Behavior Therapy : A Multisite Case-Control Study. J Pediatr ;2021 (Jan 22)

OBJECTIVES : to explore how many pre-school aged children with autism spectrum disorder (ASD) used psychotropic medication, (child and geographic factors associated with psychotropic medication use, and how many children who used psychotropic medication did or did not ever receive behavior therapy. STUDY DESIGN : Children 2-5 years of age were enrolled from 2012-2016 in a multisite case-control study designed to investigate the development and risk factors of ASD. Children with a positive ASD screen or ASD diagnosis upon enrollment were asked to complete a comprehensive evaluation to determine ASD status and developmental level. Caregivers completed a services and treatments questionnaire (STQ) and multiple self-administered questionnaires to determine child use of psychotropic medication, ever receipt of behavior therapy, and presence of co-occurring symptoms. RESULTS : 763 children were classified as ASD and had data collected on the STQ. Of those, 62 (8.1%) used psychotropic medication to treat behavioral symptoms and 28 (3.7%) were three years of age or younger when medication was first started. Attention problems (aOR=7.65 ; 95% CI=3.41,16.1 ; P<.001) and study site (aOR=2.62 ; 95% CI=1.04, 6.56 ; P = .04) were significantly associated with psychotropic medication use after controlling for maternal race/ethnicity. More than half (59.7%) of those who used psychotropic medication did not ever receive behavior therapy. CONCLUSIONS : Many preschool-aged children with ASD who use psychotropic medication do not receive behavior therapy. Pediatricians are an important resource for children and families and can help facilitate behavioral treatment for children with ASD and other disorders.

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26. Willsey HR, Exner CRT, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW. Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience. Neuron ;2021 (Jan 22)

Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly highlighted synaptic function and transcriptional regulation as key points of convergence. However, these analyses rely on incomplete knowledge of gene function across brain development. Here we leverage Xenopus tropicalis to study in vivo ten genes with the strongest statistical evidence for association with ASD. All genes are expressed in developing telencephalon at time points mapping to human mid-prenatal development, and mutations lead to an increase in the ratio of neural progenitor cells to maturing neurons, supporting previous in silico systems biological findings implicating cortical neurons in ASD vulnerability, but expanding the range of convergent functions to include neurogenesis. Systematic chemical screening identifies that estrogen, via Sonic hedgehog signaling, rescues this convergent phenotype in Xenopus and human models of brain development, suggesting a resilience factor that may mitigate a range of ASD genetic risks.

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27. Wilson RB, Vangala S, Elashoff D, Safari T, Smith BA. Using Wearable Sensor Technology to Measure Motion Complexity in Infants at High Familial Risk for Autism Spectrum Disorder. Sensors (Basel) ;2021 (Jan 17) ;21(2)

BACKGROUND : Motor dysfunction has been reported as one of the first signs of atypical development in infants at high familial risk for autism spectrum disorder (ASD) (HR infants). However, studies have shown inconsistent results regarding the nature of motor dysfunction and whether it can be predictive of later ASD diagnosis. This is likely because current standardized motor assessments may not identify subtle and specific motor impairments that precede clinically observable motor dysfunction. Quantitative measures of motor development may address these limitations by providing objective evaluation of subtle motor differences in infancy. METHODS : We used Opal wearable sensors to longitudinally evaluate full day motor activity in HR infants, and develop a measure of motion complexity. We focus on complexity of motion because optimal motion complexity is crucial to normal motor development and less complex behaviors might represent repetitive motor behaviors, a core diagnostic symptom of ASD. As proof of concept, the relationship of the motion complexity measure to developmental outcomes was examined in a small set of HR infants. RESULTS : HR infants with a later diagnosis of ASD show lower motion complexity compared to those that do not. There is a stronger correlation between motion complexity and ASD outcome compared to outcomes of cognitive ability and adaptive skills. CONCLUSIONS : Objective measures of motor development are needed to identify characteristics of atypical infant motor function that are sensitive and specific markers of later ASD risk. Motion complexity could be used to track early infant motor development and to discriminate HR infants that go on to develop ASD.

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28. Yu L, Wang S. Aberrant auditory system and its developmental implications for autism. Sci China Life Sci ;2021 (Jan 22)

Most infants who are later diagnosed with autism show delayed speech and language and/or atypical language profile. There is a large body of research on abnormal speech and language in children with autism. However, auditory development has been relatively under-investigated in autism research, despite its inextricable relationship with language development and despite researchers’ ability to detect abnormalities in brain development and behavior in early infancy. In this review, we synthesize research on auditory processing in the prenatal period through infancy and childhood in typically developing children, children at high risk for autism, and children diagnosed with autism. We conclude that there are clear neurobiological and behavioral links between abnormal auditory development and the deficits in social communication seen in autism. We then offer perspectives on the need for a systematic characterization of early auditory development in autism, and identified questions to be addressed in future research on the development of autism.

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