1. Diverse mutations in autism-related genes and their expression in the developing brain. Nat Genet;2022 (Aug 18)

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2. The 24(th) International SSBP Research Symposium: Developmental Disorders and Behavioural Phenotypes Across the Lifespan. J Intellect Disabil Res;2022 (Aug);66(8-9):669-676.

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3. Berruti AS, Schaaf RC, Jones EA, Ridgway E, Dumont RL, Leiby B, Sancimino C, Yi M, Molholm S. Notes from an epicenter: navigating behavioral clinical trials on autism spectrum disorder amid the COVID-19 pandemic in the Bronx. Trials;2022 (Aug 19);23(1):691.

BACKGROUND: The COVID-19 pandemic impacted nearly all facets of our daily lives, and clinical research was no exception. Here, we discuss the impact of the pandemic on our ongoing, three-arm randomized controlled trial (RCT) Sensory Integration Therapy (SIT) in Autism: Mechanisms and Effectiveness (NCT02536365), which investigates the immediate and sustained utility of SIT to strengthen functional daily-living skills and minimize the presence of maladaptive sensory behaviors in autistic children. MAIN TEXT: In this text, we detail how we navigated the unique challenges that the pandemic brought forth between the years 2020 and 2021, including the need to rapidly adjust our study protocol, recruitment strategy, and in-person assessment battery to allow for virtual recruitment and data collection. We further detail how we triaged participants and allocated limited resources to best preserve our primary outcome measures while prioritizing the safety of our participants and study team. We specifically note the importance of open and consistent communication with all participating families throughout the pandemic in ensuring all our protocol adjustments were successfully implemented. CONCLUSIONS: Though the COVID-19 pandemic resulted in an unprecedented interruption to in-person clinical research, clinical trials have always been and will continue to be at risk for unforeseen interruptions, whether from world events or participants’ personal circumstances. By presenting our steps to preserving this RCT throughout the pandemic, we offer suggestions for successfully managing unexpected interruptions to research. Ideally, by taking these into account, future RCTs may be increasingly prepared to minimize the impact of these potential interruptions to research.

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4. Bloomer BF, Morales JJ, Bolbecker AR, Kim DJ, Hetrick WP. Cerebellar Structure and Function in Autism Spectrum Disorder. J Psychiatr Brain Sci;2022;7

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by early-onset repetitive behaviors, restricted interests, sensory and motor difficulties, and impaired social interactions. Converging evidence from neuroimaging, lesion and postmortem studies, and rodent models suggests cerebellar involvement in ASD and points to promising targets for therapeutic interventions for the disorder. This review elucidates understanding of cerebellar mechanisms in ASD by integrating and contextualizing recent structural and functional cerebellar research.

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5. De Laet A, Piccardi ES, Begum-Ali J, Charman T, Johnson MH, Jones EJH, Bedford R, Gliga T. Neuronal gating of tactile input and sleep in 10-month-old infants at typical and elevated likelihood for autism spectrum disorder. Sci Rep;2022 (Aug 19);12(1):14188.

Sleep problems in Autism Spectrum Disorder (ASD) emerge early in development, yet the origin remains unclear. Here, we characterise developmental trajectories in sleep onset latency (SOL) and night awakenings in infants at elevated likelihood (EL) for ASD (who have an older sibling with ASD) and infants at typical likelihood (TL) for ASD. Further, we test whether the ability to gate tactile input, using an EEG tactile suppression index (TSI), associates with variation in SOL and night awakenings. Parent-reported night awakenings and SOL from 124 infants (97 at EL for ASD) at 5, 10 and 14 months were analyzed using generalized estimating equations. Compared to TL infants, infants at EL had significantly more awakenings and longer SOL at 10 and 14 months. The TSI predicted SOL concurrently at 10 months, independent of ASD likelihood status, but not longitudinally at 14 months. The TSI did not predict night awakenings concurrently or longitudinally. These results imply that infants at EL for ASD wake up more frequently during the night and take longer to fall asleep from 10 months of age. At 10 months, sensory gating predicts SOL, but not night awakenings, suggesting sensory gating differentially affects neural mechanisms of sleep initiation and maintenance.

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6. Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov AN, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, Maciel P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Cardaropoli S, Carli D, Chan MCY, Fallerini C, Giorgio E, Girardi AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah IN, Schmidt RJ, Smith M, Costa CIS, Trajkova S, Wang JYT, Yu MHC, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet;2022 (Aug 18)

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. We discovered 72 genes associated with ASD at false discovery rate (FDR) ≤ 0.001 (185 at FDR ≤ 0.05). De novo PTVs, damaging missense variants and CNVs represented 57.5%, 21.1% and 8.44% of association evidence, while CNVs conferred greatest relative risk. Meta-analysis with cohorts ascertained for developmental delay (DD) (n = 91,605) yielded 373 genes associated with ASD/DD at FDR ≤ 0.001 (664 at FDR ≤ 0.05), some of which differed in relative frequency of mutation between ASD and DD cohorts. The DD-associated genes were enriched in transcriptomes of progenitor and immature neuronal cells, whereas genes showing stronger evidence in ASD were more enriched in maturing neurons and overlapped with schizophrenia-associated genes, emphasizing that these neuropsychiatric disorders may share common pathways to risk.

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7. Gardella B, Dominoni M, Scatigno AL, Cesari S, Fiandrino G, Orcesi S, Spinillo A. What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature. Front Endocrinol (Lausanne);2022;13:936171.

The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant’s first years of life. In recent years, a new field known as neuroplacentology has emerged and it focuses on the role of the placenta in fetal and neonatal brain development. Because of the limited data, our aim was to provide a narrative review of the most recent knowledge about the relation between placental lesions and fetal and newborn neurological development. Papers published online from 2000 until February 2022 were taken into consideration and particular attention was given to articles in which placental lesions were related to neonatal morbidity and short-term and long-term neurological outcome. Most research regarding the role of placental lesions in neurodevelopment has been conducted on fetal growth restriction and preterm infants. Principal neurological outcomes investigated were periventricular leukomalacia, intraventricular hemorrhages, neonatal encephalopathy and autism spectrum disorder. No consequences in motor development were found. All the considered studies agree about the crucial role played by placenta in fetal and neonatal neurological development and outcome. However, the causal mechanisms remain largely unknown. Knowledge on the pathophysiological mechanisms and on placenta-related risks for neurological problems may provide clues for early interventions aiming to improve neurological outcomes, especially among pediatricians and child psychiatrists.

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8. Gillett G, Leeves L, Patel A, Prisecaru A, Spain D, Happé F. The prevalence of autism spectrum disorder traits and diagnosis in adults and young people with personality disorders: A systematic review. Aust N Z J Psychiatry;2022 (Aug 19):48674221114603.

OBJECTIVES: Autism spectrum disorders and personality disorders are spectrum conditions with shared clinical features. Despite similarities, previous attempts to synthesise literature on co-existing prevalence and shared traits have employed a unidirectional focus, assessing personality characteristics of individuals with an autism spectrum disorder diagnosis. Here, we assess the prevalence of autism spectrum disorder diagnosis and/or traits among persons diagnosed with a personality disorder. METHODS: We systematically reviewed the English-language literature following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, according to a pre-registered protocol (PROSPERO: CRD 42021264106). Peer-reviewed quantitative studies reporting the prevalence of autism spectrum disorder diagnosis or traits in persons with an established personality disorder diagnosis were included. Studies were critically appraised using the Appraisal tool for Cross-Sectional Studies. RESULTS: Fifteen studies were identified, including 72,902 participants (median: 48, interquartile range: 30-77). Diagnoses included borderline, schizotypal and obsessive-compulsive personality disorders, and cohorts with unspecified personality disorder diagnoses. There was significant heterogeneity in diagnostic methodology and assessment tools used. We identified preliminary evidence of an increased prevalence of co-existing autism spectrum disorder diagnosis and traits among those diagnosed with a personality disorder, although significant limitations of the literature were identified. CONCLUSION: Our research suggests clinicians should consider conducting a careful developmental assessment when assessing service-users with possible or confirmed personality disorder. Future research directions may include larger studies featuring clinical control groups, an exploration of shared and differentiating behavioural-cognitive features of the two conditions, and investigation into potentially shared aetiological factors. Research investigating demographic factors that may contribute to potential diagnostic overshadowing would also be welcomed.

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9. Hadjikhani N, Galazka M, Kenet T, Joseph R, Åsberg Johnels J. Discrepancy between high non-verbal intelligence and low accuracy at reading emotional expressions in the eyes reflects the magnitude of social-emotional difficulties in autism. Eur Arch Psychiatry Clin Neurosci;2022 (Aug 18)

Many so-called « high functioning » autistic individuals struggle with daily living skills, and have poorer than expected adult outcomes in employment, relationships, and quality of life. Significant discrepancies between non-verbal intelligence and emotional processing can be observed in autism, but the role of the magnitude of this gap in achieving potential psychosocial outcome is not known. Here, we show in a large group of participants (n = 107), that only among those with an autism diagnosis (n = 33), the gap between non-verbal intelligence (as measured by Raven’s matrices) and the ability to perform the Reading the Mind in the Eyes test significantly predicts self-perceived emotional/social difficulties as assessed by the Empathy Quotient. Our results suggest that it is specifically the magnitude of the gap between (high) levels of abstract reasoning skills and poor proficiency in reading emotions expressed by the eyes that predicts self-perceived difficulties in emotional and social interactions among adults with autism. A better understanding of the underlying causes of the discrepancy between potential and actual psychosocial outcomes is the first step toward developing the most appropriate support for this vulnerable population, and our study offers some potentially important insights in this regard.

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10. Hidalgo N, Sjöwall D, Agius H, Byström C, Brar A, Borg J, Hirvikoski T. Psychoeducational group intervention for intellectually able adults with autism and their close relations (Prisma) – an open feasibility study. BMC Psychiatry;2022 (Aug 19);22(1):556.

BACKGROUND: Autism spectrum disorder (ASD) in adulthood is associated with severe impairments in functioning and poor health, while ASD is also affecting close relations. Accessible first-line interventions addressing the complex clinical needs and care coordination are lacking. METHODS: This study investigated the feasibility and preliminary effects of a new psychoeducational intervention (Prisma) developed for intellectually able adults with ASD and their close relations in an outpatient setting. The manualized Prisma intervention consist of four weekly group sessions guided by trained group leaders and providing information about autism, support, and services. Feasibility was examined through treatment completion rate and group-level comparisons between intervention completers and non-completers (Student’s t-test, Fisher’s exact test, and Pearson’s chi-squared test). Perceived treatment credibility was investigated by within-group comparisons of participant’s self-ratings from pre-intervention to post-intervention, as well as by group leaders’ ratings using an adjusted questionnaire. Treatment satisfaction was examined quantitatively regarding the session evaluations (Student’s t-tests), as well as by a qualitative thematic analysis of participants’ feedback. Preliminary efficacy was studied using paired t-tests (pre- and post-intervention). RESULTS: Completion rate was 77% (n = 71 of the 92 adults with ASD) and 73% (n = 69 of the 94 close relations), respectively. Participants considered Prisma to be an acceptable intervention indicated by increases in treatment credibility and expectations from pre- to post-intervention. The group leaders reported treatment credibility in the same range as the participants. Both autistic adults and their close relations reported good treatment satisfaction for each session, while the qualitative thematic analysis indicated that Prisma could be improved by enhancing active participation. This participant feedback will be used to further improve the intervention for an upcoming RCT. Preliminary analyses of effects showed promising results with an increase in knowledge of ASD and some indications for improvements in relationship quality, mental health, quality of life, acceptance of diagnosis and burden of care. CONCLUSIONS: Overall, results indicate that the Prisma is a feasible and acceptable first-line intervention in outpatient services. Randomized controlled trials are needed to further corroborate the evidence base of this novel intervention. TRIAL REGISTRATION: Clinicaltrials.org NCT0446097, retrospectively registered July 8th 2020.

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11. Lense M, Liu T, Booke L, Crawley Z, Beck S. Integrated parent-child music classes for preschoolers with and without autism: Parent expectations and experiences. Ann N Y Acad Sci;2022 (Aug 18)

Integrated recreational programs designed to support neurodiverse children and their families are important vehicles for community participation. In this mixed-methods study, we investigated the mechanisms by which parent-child music classes for autistic and neurotypical children can support community participation. Parents of autistic (n = 33) and typically developing (TD; n = 28) preschoolers were interviewed about their expectations for and experiences of participating in a 12-week psychoeducational parent-child music program. Parents completed ratings of momentary affect and social connection, and researchers coded children’s behavioral engagement during classes at multiple time points throughout the program. Primary motivations for enrolling in an integrated music class included children’s interest in music and opportunities for child socialization. Parent-focused reasons were less frequently endorsed as primary motivations for participation. Yet, momentary ratings indicated that music classes supported parents’ affect regulation and social connection with other parents at the level of individual classes and across the program. These in-class experiences were echoed by interviews following program completion, which additionally highlighted the use of new parenting strategies through the musical activities. Since parental emotional experiences of activities, supportive community relationships, and parenting confidence are all linked with increased community participation, integrated music classes may support participation and satisfaction with community experiences.

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12. Micsinszki SK, Ballantyne M, Cleverley K, Green P, Brennenstuhl S, Stremler R. Examining factors associated with sleep quality in parents of children 4-10 years with autism spectrum disorder. Disabil Rehabil;2022 (Aug 18):1-13.

PURPOSE: Parents of children with autism spectrum disorder often report poorer sleep compared to parents of typically developing children. When parents do not obtain enough quality sleep, functioning may be compromised placing the onus of care on already stressed parents. However, improving sleep duration may not improve sleep quality and is not always feasible. This study aimed to measure sleep quality in parents of children with autism spectrum disorder, determine if stress and children’s sleep are associated with sleep quality and whether resources, appraisals, and coping moderate these relationships. MATERIALS AND METHODS: Multivariable regression was used to determine the effects of stress and children’s sleep problems on sleep quality and test modifying effects. RESULTS: Mean (SD) Pittsburgh Sleep Quality Index scores was 8.81 (3.76), with 77.6% of parents scoring above the clinical cut-off. Mean (SD) Children’s Sleep Habits Questionnaire scores was 54.03 (8.32), with 96.3% of parents rating their child’s sleep above the clinical cut-off. Children’s sleep was the only significant predictor and none of the expected effect modifiers were significant. CONCLUSION: Children’s sleep may be an important target to improve parent sleep quality but requires systematic assessment with interventional research. Implications for rehabilitationBoth parents and their 4-10-year-old children with ASD experience high levels of sleep disturbances.Clinicians can start the conversation early with parents about their children’s sleep by providing them with information to increase awareness and recognize healthy sleep habits in their children.Clinicians are important in the assessment, management, and evaluation of pediatric sleep problems, which may have significant spillover effects on parents of children with ASD.There is a need for more resources and training to be available to clinicians to assess children and their parents for sleep problems, which could extend beyond the assessment of sleep and consider parent’s daytime functioning and mental health.

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13. Mou TM, Lane MV, Ireland DDC, Verthelyi D, Tonelli LH, Clark SM. Association of complement component 4 with neuroimmune abnormalities in the subventricular zone in schizophrenia and autism spectrum disorders. Neurobiol Dis;2022 (Aug 19);173:105840.

An early inflammatory insult is the most recognized risk factor associated with neurodevelopmental psychiatric disorders, even more so than genetic variants. Notably, complement component 4 (C4), a molecule involved in inflammatory responses, has been strongly associated with schizophrenia (SZ) and its role in other neurodevelopmental disorders, such as autism (ASD), is an area of active investigation. However, while C4 in SZ has been implicated in the context of synaptic pruning, little is known about its neuroinflammatory role. The subventricular zone (SVZ) is a region heavily involved in neurodevelopment and neuroimmune interactions through the lifespan; thus, it is a region wherein C4 may play a vital role in disease pathology. Using in situ hybridization with radioactive riboprobes and RNAscope, we identified robust astrocytic expression of C4 in the SVZ and in the septum pellucidum. C4 was also expressed in ependyma, neurons, and Ki67(+) progenitor cells. Examination of mRNA levels showed elevated C4 in both ASD and SZ, with higher expression in SZ compared to controls. Targeted transcriptomic analysis of inflammatory pathways revealed a strong association of complement system genes with SZ, and to a lesser extent, ASD, as well as generalized immune dysregulation without a strong association with known infectious pathways. Analysis of differentially expressed genes (DEGs) showed that ASD DEGs were enriched in adaptive immune system functions such as Th cell differentiation, while SZ DEGs were enriched in innate immune system functions, including NF-κB and toll like receptor signaling. Moreover, the number of Ki67(+) cells was significantly higher in ASD compared to SZ and controls. Taken together, these results support a role for C4 into inflammatory-neuroimmune dysregulation observed in SZ and ASD pathology.

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14. Murphy S, Flower RL, Jellett R. Women seeking an autism diagnosis in Australia: A qualitative exploration of factors that help and hinder. Autism;2022 (Aug 17):13623613221117911.

An autism diagnosis can have a big impact on women and make it possible to access support. This study explored women’s experiences of being diagnosed with autism as an adult in Australia, to try to understand what was helpful (facilitators) and unhelpful (barriers) for them during this process. We interviewed 10 autistic women who had been diagnosed in the last 5 years. Framework analysis was used to understand the data. We wanted to understand barriers and facilitators relating to the individual participants, the professionals they saw and the system they went through for their diagnostic assessment. Women reported that being able to recognise they were autistic, being motivated, preparing for the assessment, having social support and unmasking to be themselves were helpful during the diagnostic process. They reported that having a knowledgeable diagnostician who made accommodations for their needs assisted them during the assessment process. When providers dismissed the participants when they first raised the possibility they were autistic, it delayed them in seeking an assessment. At the system level, the women in this study found some aspects of the healthcare system difficult to navigate, particularly costs and long waitlists. Some found the assessment tools used were not well suited to them. The experiences of the women in this study highlight improvements that could be made to accessing an adulthood autism diagnosis in Australia. These include improving provider knowledge of the varied presentation of autism and the development of resources to help autistic women prepare for their diagnostic assessment.

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15. Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain;2022 (Jul 27)

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle Associated PRoteIN 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified twelve cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), Intellectual Disability (ID; 83%), Attention Deficit Hyperactivity Disorder (ADHD; 82%), and Autism Spectrum Disorder (ASD; 67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated CAPRIN1+/- human iPSCs (hiPSCs) via CRISPR/Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization, and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance, and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays (MEA) indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models.

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16. Pietrucci D, Teofani A, Milanesi M, Fosso B, Putignani L, Messina F, Pesole G, Desideri A, Chillemi G. Machine Learning Data Analysis Highlights the Role of Parasutterella and Alloprevotella in Autism Spectrum Disorders. Biomedicines;2022 (Aug 19);10(8)

In recent years, the involvement of the gut microbiota in disease and health has been investigated by sequencing the 16S gene from fecal samples. Dysbiotic gut microbiota was also observed in Autism Spectrum Disorder (ASD), a neurodevelopmental disorder characterized by gastrointestinal symptoms. However, despite the relevant number of studies, it is still difficult to identify a typical dysbiotic profile in ASD patients. The discrepancies among these studies are due to technical factors (i.e., experimental procedures) and external parameters (i.e., dietary habits). In this paper, we collected 959 samples from eight available projects (540 ASD and 419 Healthy Controls, HC) and reduced the observed bias among studies. Then, we applied a Machine Learning (ML) approach to create a predictor able to discriminate between ASD and HC. We tested and optimized three algorithms: Random Forest, Support Vector Machine and Gradient Boosting Machine. All three algorithms confirmed the importance of five different genera, including Parasutterella and Alloprevotella. Furthermore, our results show that ML algorithms could identify common taxonomic features by comparing datasets obtained from countries characterized by latent confounding variables.

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17. Qian C, Tei S, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Nakamura M, Takahashi H, Kato N, Fujino J. Intergroup bias in punishing behaviors of adults with autism spectrum disorder. Front Psychiatry;2022;13:884529.

Groups are essential elements of society, and humans, by nature, commonly manifest intergroup bias (i.e., behave more positively toward an ingroup member than toward an outgroup member). Despite the growing evidence of various types of altered decision-making in individuals with autism spectrum disorder (ASD), their behavior under the situation involving group membership remains largely unexplored. By modifying a third-party punishment paradigm, we investigated intergroup bias in individuals with ASD and typical development (TD). In our experiment, participants who were considered as the third party observed a dictator game wherein proposers could decide how to distribute a provided amount of money while receivers could only accept unconditionally. Participants were confronted with two different group situations: the proposer was an ingroup member and the recipient was an outgroup member (IN/OUT condition) or the proposer was an outgroup member and the recipient was an ingroup member (OUT/IN condition). Participants with TD punished proposers more severely when violating social norms in the OUT/IN condition than in IN/OUT condition, indicating that their decisions were influenced by the intergroup context. This intergroup bias was attenuated in individuals with ASD. Our findings deepen the understanding of altered decision-making and socioeconomic behaviors in individuals with ASD.

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18. Sen P, Sherwin E, Sandhu K, Bastiaanssen TFS, Moloney GM, Golubeva A, Fitzgerald P, Paula Ventura Da Silva A, Chruścicka-Smaga B, Olavarría-Ramírez L, Druelle C, Campos D, Jayaprakash P, Rea K, Jeffery IB, Savignac H, Chetal S, Mulder I, Schellekens H, Dinan TG, Cryan JF. The live biotherapeutic Blautia stercoris MRx0006 attenuates social deficits, repetitive behaviour, and anxiety-like behaviour in a mouse model relevant to autism. Brain Behav Immun;2022 (Aug 19);106:115-126.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterised by deficits in social behaviour, increased repetitive behaviour, anxiety and gastrointestinal symptoms. The aetiology of ASD is complex and involves an interplay of genetic and environmental factors. Emerging pre-clinical and clinical studies have documented a potential role for the gut microbiome in ASD, and consequently, the microbiota represents a potential target in the development of novel therapeutics for this neurodevelopmental disorder. In this study, we investigate the efficacy of the live biotherapeutic strain, Blautia stercoris MRx0006, in attenuating some of the behavioural deficits in the autism-relevant, genetic mouse model, BTBR T+ Itpr3tf/J (BTBR). We demonstrate that daily oral administration with MRx0006 attenuates social deficits while also decreasing repetitive and anxiety-like behaviour. MRx0006 administration increases the gene expression of oxytocin and its receptor in hypothalamic cells in vitro and increases the expression of hypothalamic arginine vasopressin and oxytocin mRNA in BTBR mice. Additionally at the microbiome level, we observed that MRx0006 administration decreases the abundance of Alistipes putredinis, and modulates the faecal microbial metabolite profile. This alteration in the metabolite profile possibly underlies the observed increase in expression of oxytocin, arginine vasopressin and its receptors, and the consequent improvements in behavioural outcomes. Taken together, these findings suggest that the live biotherapeutic MRx0006 may represent a viable and efficacious treatment option for the management of physiological and behavioural deficits associated with ASD.

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19. Shah NV, Kim DJ, Patel N, Beyer GA, Hollern DA, Wolfert AJ, Kim N, Suarez DE, Monessa D, Zhou PL, Eldib HM, Passias PG, Schwab FJ, Lafage V, Paulino CB, Diebo BG. The 5-factor modified frailty index (mFI-5) is predictive of 30-day postoperative complications and readmission in patients with adult spinal deformity (ASD). J Clin Neurosci;2022 (Aug 15);104:69-73.

BACKGROUND: There is limited research regarding the association between the mFI-5 and postoperative complications among adult spinal deformity (ASD) patients. METHODS: Using the National Surgical Quality Improvement Project (NSQIP) database, patients with Current Procedural Terminology (CPT) codes for > 7-level fusion or < 7-level fusion with International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD were identified between 2008 and 2016. Univariate analyses with post-hoc Bonferroni correction for demographics and preoperative factors were performed. Logistic regression assessed associations between mFI-5 scores and 30-day post-operative outcomes. RESULTS: 2,120 patients met criteria. Patients with an mFI-5 score of 4 or 5 were excluded, given there were<20 patients with those scores. Patients with mFI-5 scores of 1 and 2 had increased 30-day rates of pneumonia (3.5 % and 4.3 % vs 1.6 %), unplanned postoperative ventilation for > 48 h (3.1 % and 4.3 % vs 0.9 %), and UTIs (4.4 % and 7.4 % vs 2.0 %) than patients with a score of 0 (all, p < 0.05). Logistic regression revealed that compared to an mFI-5 of 0, a score of 1 was an independent predictor of 30-day reoperations (OR = 1.4; 95 % CI 1.1-18). A score of 2 was an independent predictor of overall (OR = 2.4; 95 % CI 1.4-4.1) and related (OR = 2.2; 95 % CI 1.2-4.1) 30-day readmissions. A score of 3 was not predictive of any adverse outcome. CONCLUSION: The mFI-5 score predicted complications and postoperative events in the ASD population. The mFI-5 may effectively predict 30-day readmissions. Further research is needed to identify the benefits and predictive value of mFI-5 as a risk assessment tool.

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20. Shahmoradi L, Rezayi S. Cognitive rehabilitation in people with autism spectrum disorder: a systematic review of emerging virtual reality-based approaches. J Neuroeng Rehabil;2022 (Aug 18);19(1):91.

INTRODUCTION: Emerging virtual technologies and cognitive rehabilitation methods are two new treatment approaches that can be used to strengthen cognitive functions in Autism Spectrum Disorder (ASD). The main aim of this study was to examine the effect of using virtual reality-based approaches on cognitive disorders of children and adults with ASD. METHODS: This systematic review was conducted on scientific papers to determine the effects of virtual reality-based technologies on the cognitive functions of children and adults with ASD. We identified 688 studies related to this topic and filtered them down to 17 articles, and then extracted the effects of interventions on cognitive outcomes. RESULTS: A total of 17 studies met the inclusion criteria, in which 226 persons with ASD had taken place. The sample size in the selected studies ranged from 1 to 56 participants (Median: 8, Q1: 3.5, Q3: 15.5). Four of the studies were case-control studies, ten were pre-test/post-test studies, and three were Randomized Control Trials (RCTs). Results of 16 studies showed significant progress in various cognitive indexes, such as task learning, attention, executive functioning, and daily skills in people with ASD. In most studies, virtual technologies had beneficial effects on reducing cognitive problems, but existing limitations could reduce their effectiveness. These limitations included the cost of virtual reality devices, inappropriate size of software, the weight of devices, potential addiction, intolerance of wearing glasses or headsets by people with autism (especially in children), and the possibility of eye injury. CONCLUSION: Applying appropriate virtual-based approaches could improve cognitive indexes in people with ASD. However, further studies are needed to investigate the real effects of these technologies in the long run.

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21. Sridhar A, Drahota A, Tschida JE. Implementation strategy mapping methods to improve autism intervention use in community settings: a study protocol. Implement Sci Commun;2022 (Aug 18);3(1):92.

BACKGROUND: Implementation strategies are purported to facilitate adoption and use of evidence-based practices (EBPs) across settings. The use of tailored implementation strategies may be particularly effective, as they are selected with the explicit purpose of addressing setting-specific implementation determinants. However, methods to select and tailor implementation strategies, including in community settings, remain understudied. This project will identify and describe implementation strategy mapping methods (ISMMs) from extant peer-reviewed literature and pilot test a method to match implementation strategies with determinants in low-resourced community mental health (CMH) agencies that deliver services to children on the autism spectrum. METHODS: Aim 1: A scoping review, following PRISMA guidelines, will be conducted to identify implementation strategy mapping methods (ISMMs) utilized in child mental health settings. Data extraction will identify and describe each ISMM, including identifying methodological and procedural steps, analyzing the frequency of ISMM use, and identifying outcomes measured in eligible ISMM studies. Aim 2: Using scoping review findings, select and pilot test one ISMM within five community mental health agencies in Michigan that provide services to autistic children. We will recruit five directors/agency leaders, supervisors, and direct providers at each of the eligible agencies (expected N = 25). A sequential explanatory (QUAN➔ QUAL) mixed methods design will be used. Participants will complete a demographics and client survey, as well as a needs assessment to identify implementation determinants. The impact of the ISMM on organizational readiness for change (from pre- to post-ISMM), as well as implementation outcomes of the ISMM (feasibility, acceptability, appropriateness, usability), will be examined. Semi-structured interviews will elicit stakeholder perspectives on the mapping method. DISCUSSION: The current project aims to advance our knowledge of methods for selecting, tailoring, and mapping implementation strategies to address context-specific determinants to implementation. Additionally, this project will contribute to growing science found at the intersection of implementation science and autism research by utilizing the implementation determinants framework, the CFIR, to guide data collection, analysis, and interpretation of findings. Finally, these findings may support future EBP implementation efforts within low-resourced communities, with the ultimate goal of increasing equity in access to EBPs for autistic children.

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22. Vidal VG, Wachholtz DP, Mattie LJ, DeThorne LS. It Takes a Community: How Environmental Systems Construct (In)Competence in Autistic Peer Interactions. Lang Speech Hear Serv Sch;2022 (Aug 19):1-19.

PURPOSE: This study aims to illustrate how environmental systems shape the peer interactions of an autistic student within the classroom. METHOD: Drawing on the bioecological model of human development, this situated discourse analysis used thematic coding and microanalysis to examine data from semistructured interviews and 10 sessions of direct classroom observations of a 9-year-old autistic student and his classroom communication partners. RESULTS: Convergent data across participants, time, and data sources revealed the following systemic influences on peer interaction: predominant medicalized view of autism (macrosystem), educational practices (exosystem), misaligned roles across adults and peers in the classroom (mesosystem), and multimodal opportunities for direct interaction that were supported by objects and physical contact and inhibited by rapid pacing (microsystem). CONCLUSIONS: Findings illustrate the environmental complexities associated with the development of peer interactions for autistic students. We offer explicit clinical implications for how environmental factors can be addressed in the school-based eligibility determination process and in the Individualized Education Program.

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23. Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O’Roak BJ, Geschwind DH, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet;2022 (Aug 18)

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P < 2.5 × 10(-6)), including five new risk genes (NAV3, ITSN1, MARK2, SCAF1 and HNRNPUL2). The association of NAV3 with autism risk is primarily driven by rare inherited loss-of-function (LoF) variants, with an estimated relative risk of 4, consistent with moderate effect. Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P = 1.9 × 10(-6)). Power calculations suggest that much larger numbers of autism cases are needed to identify additional moderate-risk genes.

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