1. Alateyat H, Cruz S, Cernadas E, Tubío-Fungueiriño M, Sampaio A, González-Villar A, Carracedo A, Fernández-Delgado M, Fernández-Prieto M. A Machine Learning Approach in Autism Spectrum Disorders: From Sensory Processing to Behavior Problems. Front Mol Neurosci;2022;15:889641.

Atypical sensory processing described in autism spectrum disorders (ASDs) frequently cascade into behavioral alterations: isolation, aggression, indifference, anxious/depressed states, or attention problems. Predictive machine learning models might refine the statistical explorations of the associations between them by finding out how these dimensions are related. This study investigates whether behavior problems can be predicted using sensory processing abilities. Participants were 72 children and adolescents (21 females) diagnosed with ASD, aged between 6 and 14 years (M = 7.83 years; SD = 2.80 years). Parents of the participants were invited to answer the Sensory Profile 2 (SP2) and the Child Behavior Checklist (CBCL) questionnaires. A collection of 26 supervised machine learning regression models of different families was developed to predict the CBCL outcomes using the SP2 scores. The most reliable predictions were for the following outcomes: total problems (using the items in the SP2 touch scale as inputs), anxiety/depression (using avoiding quadrant), social problems (registration), and externalizing scales, revealing interesting relations between CBCL outcomes and SP2 scales. The prediction reliability on the remaining outcomes was « moderate to good » except somatic complaints and rule-breaking, where it was « bad to moderate. » Linear and ridge regression achieved the best prediction for a single outcome and globally, respectively, and gradient boosting machine achieved the best prediction in three outcomes. Results highlight the utility of several machine learning models in studying the predictive value of sensory processing impairments (with an early onset) on specific behavior alterations, providing evidences of relationship between sensory processing impairments and behavior problems in ASD.

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2. Allen M, Huang BS, Notaras MJ, Lodhi A, Barrio-Alonso E, Lituma PJ, Wolujewicz P, Witztum J, Longo F, Chen M, Greening DW, Klann E, Ross ME, Liston C, Colak D. Spontaneous generation of ASD astrocytes. Mol Psychiatry;2022 (May);27(5):2369.

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3. Charalampopoulou M, Choi EJ, Korczak DJ, Cost KT, Crosbie J, Birken CS, Charach A, Monga S, Kelley E, Nicolson R, Georgiades S, Ayub M, Schachar RJ, Iaboni A, Anagnostou E. Mental health profiles of autistic children and youth during the COVID-19 pandemic. Paediatr Child Health;2022 (Jun);27(Suppl 1):S59-S65.

OBJECTIVES: Canadian province-wide lockdowns have challenged children’s mental health (MH) during the COVID-19 pandemic, with autistic children being at particular risk. The purpose of our study was to identify sub-groups of autistic children with distinct mental health change profiles, to understand the child-, parent-, and system-specific factors associated with such profiles in order to ultimately inform future interventions. METHODS: Data were drawn from a large Canadian cohort (N=1,570) across Ontario, resulting in 265 autistic children (mean age=10.9 years, 76% male). K-means clustering analyses were employed to partition distinct MH profiles in six MH measures (mood, anxiety, OCD symptoms, irritability, inattention, hyperactivity) and group differences were examined with reference to the above factors. Additionally, we investigated the characteristics of children who accessed acute MH services. RESULTS: The optimal number of clusters was two; one included those experiencing MH deterioration across all six MH measures (61.3%, 95% confidence interval [CI]=54.9 to 67.4), and a second included youth that did not experience MH changes (38.7%, 95%CI=32.6 to 45.1). Child-specific factors associated with MH deterioration included higher pre-existing internalizing symptoms, high levels of COVID stress. Parental MH challenges and system-specific factors, such as the loss of learning supports, access to physicians and material deprivation, were also associated with MH deterioration. Access to acute MH services were primarily associated with financial insecurity and loss of services. CONCLUSIONS: More than half of autistic children experienced MH deterioration, and person-specific (pre-existing MH, COVID related stress), parent-specific (Parent MH) and system-level (loss of services and material deprivation) characteristics were associated with such decline, providing clinical and policy opportunities for intervention at multiple levels.

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4. Choi KR, Lotfizadah AD, Bhakta B, Pompa-Craven P, Coleman KJ. Concordance between patient-centered and adaptive behavior outcome measures after applied behavior analysis for autism. BMC Pediatr;2022 (May 27);22(1):314.

BACKGROUND: Applied behavior analysis (ABA) is an evidence-based approach to autism spectrum disorder that has been shown in clinical trials to improve child functional status. There is substantial focus in ABA on setting and tracking individualized goals that are patient-centered, but limited research on how to measure progress on such patient-centered outcomes. PURPOSE: The purpose of this investigation was to assess concordance between patient-centered and standard outcome measures of treatment progress in a real-world clinical sample of children receiving ABA for autism spectrum disorder. METHODS: This observational study used a clinical sample of children ages 3 to 16 years (N = 154) who received 24 months of ABA from an integrated health system. Concordance between three outcome measures after ABA was assessed using a correlation matrix: (1) patient-centered measures of progress on individualized treatment goals, (2) caregiver-centered measure of progress on treatment participation goals, and (3) the Vineland Adaptive Behavior Scales adaptive behavior composite. RESULTS: There was limited concordance among measures at both 12 and 24 months of ABA. None of the patient-centered measures showed significant positive correlation with adaptive behavior composite difference scores at either 12 or 24 months, nor did the caregiver measure. The percentage of children achieving clinically meaningful gain on patient-centered goal measures increased between 12 and 24 months of ABA, while the percentage of children achieving clinically meaningful gains in adaptive behavior declined during the same time period. CONCLUSIONS: In a health system implementation of ABA, there was limited concordance between patient-centered and standard measures of clinically meaningful treatment progress for children with ASD. Clinicians should have ongoing dialogue with patients and parents/caregivers to ensure that interventions for ASD are resulting in progress towards outcomes that are meaningful to patients and families.

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5. Ellison KS, Jarzabek E, Jackson SLJ, Naples A, McPartland JC. Brief Report: Exploratory Evaluation of Clinical Features Associated with Suicidal Ideation in Youth with Autism Spectrum Disorder. J Autism Dev Disord;2022 (May 26)

There has been a heightened awareness of an increased risk of suicidality among individuals with autism spectrum disorder (ASD) due to high rates of suicidal ideation (SI) in this population (11-66%). The current study investigated the rate of parent-endorsed SI and associated clinical features in 48 youths with ASD (Age; M: 12.97 years, SD: 2.33). SI was endorsed in 18.75% of participants. Youth with SI exhibited significantly higher levels of affective problems, externalizing problems, feelings of humiliation and rejection, and symptoms related to perfectionism. Results indicate that co-occurring mental health problems are associated with suicidal ideation and provide relevant targets for psychotherapeutic intervention. This preliminary study in a modest sample suggests the value of further research in larger samples to replicate and generalize these findings.

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6. Girault JB, Donovan K, Hawks Z, Talovic M, Forsen E, Elison JT, Shen MD, Swanson MR, Wolff JJ, Kim SH, Nishino T, Davis S, Snyder AZ, Botteron KN, Estes AM, Dager SR, Hazlett HC, Gerig G, McKinstry R, Pandey J, Schultz RT, St John T, Zwaigenbaum L, Todorov A, Truong Y, Styner M, Pruett JR, Jr., Constantino JN, Piven J. Infant Visual Brain Development and Inherited Genetic Liability in Autism. Am J Psychiatry;2022 (May 26):appiajp21101002.

OBJECTIVE: Autism spectrum disorder (ASD) is heritable, and younger siblings of ASD probands are at higher likelihood of developing ASD themselves. Prospective MRI studies of siblings report that atypical brain development precedes ASD diagnosis, although the link between brain maturation and genetic factors is unclear. Given that familial recurrence of ASD is predicted by higher levels of ASD traits in the proband, the authors investigated associations between proband ASD traits and brain development among younger siblings. METHODS: In a sample of 384 proband-sibling pairs (89 pairs concordant for ASD), the authors examined associations between proband ASD traits and sibling brain development at 6, 12, and 24 months in key MRI phenotypes: total cerebral volume, cortical surface area, extra-axial cerebrospinal fluid, occipital cortical surface area, and splenium white matter microstructure. Results from primary analyses led the authors to implement a data-driven approach using functional connectivity MRI at 6 months. RESULTS: Greater levels of proband ASD traits were associated with larger total cerebral volume and surface area and larger surface area and reduced white matter integrity in components of the visual system in siblings who developed ASD. This aligned with weaker functional connectivity between several networks and the visual system among all siblings during infancy. CONCLUSIONS: The findings provide evidence that specific early brain MRI phenotypes of ASD reflect quantitative variation in familial ASD traits. Multimodal anatomical and functional convergence on cortical regions, fiber pathways, and functional networks involved in visual processing suggest that inherited liability has a role in shaping the prodromal development of visual circuitry in ASD.

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7. Huang Y, Cheng CH, Law WW, Wong T, Leung OK, So WC. Gesture Development in Chinese-Speaking Preschool Children With Autism and the Roles of Parental Input and Child-Based Factors. J Speech Lang Hear Res;2022 (May 26):1-18.

PURPOSE: Children with autism are found to have delayed and heterogeneous gesture abilities. It is important to understand the growth of gesture abilities and the underlying factors affecting its growth. Addressing these issues can help to design effective intervention programs. METHOD: Thirty-five Chinese-speaking preschoolers with autism spectrum disorder (M (age) = 4.89 years, SD = 0.91; four girls) participated in four play sessions with their parents over 9 months. Their child-based factors including autism severity, intellectual functioning, and expressive language abilities were assessed. The gestures (deictic, iconic, and conventional) of the children and their parents were coded. Growth curve analyses were conducted to examine individual growth trajectories and the roles of child-based factors and parental input in shaping the children’s gesture development. RESULTS: Child-based factors and parental input predicted gesture development differently. Parents’ gestures positively predicted their children’s gestures of the same type. Autism severity negatively predicted iconic and conventional gestures. Overall growth was found in deictic rather than iconic and conventional gestures. Subgroup variation was also found. Specifically, children with better expressive language ability showed a decrease in deictic gestures. An increase in iconic and conventional gestures was found in children with more severe autism and those with poorer expressive language ability and intellectual functioning, respectively. CONCLUSIONS: Different types of gestures may have different growth trajectories and be predicted by different child-based factors. Particular attention should be given to children who never produced iconic gestures, which is more challenging and may not develop over a short period, and hence require direct instruction.

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8. Ilieva M, Aldana BI, Vinten KT, Hohmann S, Woofenden TW, Lukjanska R, Waagepetersen HS, Michel TM. Proteomic phenotype of cerebral organoids derived from autism spectrum disorder patients reveal disrupted energy metabolism, cellular components, and biological processes. Mol Psychiatry;2022 (May 26)

The way in which brain morphology and proteome are remodeled during embryonal development, and how they are linked to the cellular metabolism, could be a key for elucidating the pathological mechanisms of certain neurodevelopmental disorders. Cerebral organoids derived from autism spectrum disorder (ASD) patients were generated to capture critical time-points in the neuronal development, and metabolism and protein expression were investigated. The early stages of development, when neurogenesis commences (day in vitro 39), appeared to be a critical timepoint in pathogenesis. In the first month of development, increased size in ASD-derived organoids were detected in comparison to the controls. The size of the organoids correlates with the number of proliferating cells (Ki-67 positive cells). A significant difference in energy metabolism and proteome phenotype was also observed in ASD organoids at this time point, specifically, prevalence of glycolysis over oxidative phosphorylation, decreased ATP production and mitochondrial respiratory chain activity, differently expressed cell adhesion proteins, cell cycle (spindle formation), cytoskeleton, and several transcription factors. Finally, ASD patients and controls derived organoids were clustered based on a differential expression of ten proteins-heat shock protein 27 (hsp27) phospho Ser 15, Pyk (FAK2), Elk-1, Rac1/cdc42, S6 ribosomal protein phospho Ser 240/Ser 244, Ha-ras, mTOR (FRAP) phospho Ser 2448, PKCα, FoxO3a, Src family phospho Tyr 416-at day 39 which could be defined as potential biomarkers and further investigated for potential drug development.

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9. Johnson M, Doherty M, Shaw SC. Overcoming barriers to autistic health care: towards autism-friendly practices. Br J Gen Pract;2022 (Jun);72(719):255-256.

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10. Josol CK, Fisher MH, Athamanah LS. Perspectives of Adults without Disabilities on their Friendships with Individuals with Intellectual and Developmental Disabilities. J Intellect Disabil;2022 (May 27):17446295221104621.

Friendships contribute to positive social outcomes such as the promotion of prosocial behaviors and social well-being and can lead to an overall healthy quality of life. Despite the importance of friendships, little is known about how individuals without disabilities develop and maintain friendships with individuals with intellectual and developmental disabilities. Using a phenomenological research design, the current study explored the lived experiences of 17 adults without disabilities who discussed the development and maintenance of their friendship with an individual with intellectual and developmental disabilities. Semi-structured interviews were conducted and subsequently collaborative, open coding was used to identify codes and themes across participants. Three main themes emerged related to 1) factors that facilitated friendship development; 2) factors that contributed to friendship maintenance; and 3) impacts of the friendship for both individuals with and without intellectual and developmental disabilities. Implications of the results are discussed as well as future directions for research.

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11. Kong HE, Lim J, Linsalata A, Kang Y, Malik I, Allen EG, Cao Y, Shubeck L, Johnston R, Huang Y, Gu Y, Guo X, Zwick ME, Qin Z, Wingo TS, Juncos J, Nelson DL, Epstein MP, Cutler DJ, Todd PK, Sherman SL, Warren ST, Jin P. Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A;2022 (May 31);119(22):e2118124119.

SignificanceExpansion of 55-200 CGG repeats in the 5′ untranslated region of FMR1 predisposes carriers to fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. FXTAS demonstrates incomplete penetrance, which strongly suggests the presence of genetic modifiers. We performed whole-genome sequencing (WGS) on male premutation carriers (CGG(55-200)) followed by a functional screen in Drosophila and identified PSMB5 as a strong suppressor of CGG-associated neurodegeneration, thereby presenting a therapeutic strategy for FXTAS.

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12. Linehan C, Birkbeck G, Araten-Bergman T, Baumbusch J, Beadle-Brown J, Bigby C, Bradley V, Brown M, Bredewold F, Chirwa M, Cui J, Godoy Gimenez M, Gomeiro T, Kanova Š, Kroll T, Li H, MacLachlan M, Narayan J, Nearchou F, Nolan A, O’Donovan MA, Santos FH, Šiška J, Stainton T, Tideman M, Tossebro J. COVID-19 IDD: Findings from a global survey exploring family members’ and paid staff’s perceptions of the impact of COVID-19 on individuals with intellectual and developmental disabilities (IDD) and their caregivers. HRB Open Res;2022;5:27.

Background: A growing body of evidence attests to the disproportionate impact of COVID-19 on persons with intellectual and developmental disabilities (IDD) during the pandemic. This study asked caregivers about their perceptions of how COVID-19 impacted them and the people they support. Method: An online survey was conducted in 12 countries during August-September 2020 and sought information on demographics, support practices, information and training, experiences of COVID-19, social distancing, and wellbeing, as measured by the DASS12. This study reports on 3,754 family members, direct support professionals, and managers who participated in the survey. Results: Caregivers observed increases in depression/anxiety, stereotyped behaviours, aggression towards others and weight gain in the person(s) they supported. They also reported difficulties supporting the person(s) to access healthcare. Families reported reducing or ceasing employment and absorbed additional costs when supporting their family member. Direct support professionals experienced changes in staff shifts, staff absences, increased workload and hiring of casual staff. Caregivers’ wellbeing revealed high levels of stress, depression, and less so anxiety. The strongest predictor of wellbeing among families was observation of changes in mood in the person(s) they supported, while for direct support professionals, the strongest predictors of wellbeing were reorganisation of staff shifts and increases in new direct support staff. Discussion: Findings support the contention of this population experiencing a disproportionate burden during the COVID-19 pandemic, reflecting historical inequities in access to healthcare and other human rights violations which are now protected under the United Nations Convention on the Rights of Persons with Disabilities.

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13. Liu W, Li L, Xia X, Zhou X, Du Y, Yin Z, Wang J. Integration of Urine Proteomic and Metabolomic Profiling Reveals Novel Insights Into Neuroinflammation in Autism Spectrum Disorder. Front Psychiatry;2022;13:780747.

Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders whose etiology and pathogenesis are not fully understood. To gain insight into the molecular basis of ASD, we performed comparative integrated proteomic and metabolomic analyses of urine samples from children diagnosed with ASD and healthy children. All 160 samples underwent proteomics analysis and 60 were analyzed by liquid chromatography-mass spectrometry to obtain metabolite profiles. We identified 77 differentially expressed proteins (DEPs; 21 downregulated and 56 upregulated) and 277 differentially expressed metabolites; 31 of the DEPs including glutathione, leukocyte antigens, glycoproteins, neural adhesion factors, and immunoglobulins, have been implicated in neuroinflammation. The proteomic analysis also revealed 8 signaling pathways that were significantly dysregulated in ASD patients; 3 of these (transendothelial leukocyte migration, antigen processing and presentation, and graft vs. host disease) were associated with the neuroimmune response. The metabolism of tryptophan, which is also related to the neuroimmune response, has been found to play a potential role in ASD. Integrated proteome and metabolome analysis showed that 6 signaling pathways were significantly enriched in ASD patients, 3 of which were correlated with impaired neuroinflammation (glutathione metabolism, metabolism of xenobiotics by cytochrome P450 and transendothelial migration of leukocyte). We also found a correlation between prostaglandin (PG) E2 levels and the inflammatory response in ASD. These results underscore the prominent role of the neuroimmune response in ASD and provide potential biomarkers that can be used for diagnosis or as targets for early intervention.

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14. Lupattelli A, Nordeng H. Does Intrapartum Epidural Analgesia Increase the Risk of Autism Spectrum Disorder in Offspring? Most Likely Not. JAMA Netw Open;2022 (May 2);5(5):e2214279.

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15. Márquez-García AV, Vakorin VA, Kozhemiako N, Magnuson JR, Iarocci G, Ribary U, Moreno S, Doesburg SM. Children with autism spectrum disorder show atypical electroencephalographic response to processing contextual incongruencies. Sci Rep;2022 (May 27);12(1):8948.

Children with autism spectrum disorder (ASD) experience difficulties with social communication, making it challenging to interpret contextual information that aids in accurately interpreting language. To investigate how the brain processes the contextual information and how this is different in ASD, we compared event-related potentials (ERPs) in response to processing visual and auditory congruent and incongruent information. Two groups of children participated in the study: 37 typically developing children and 15 children with ASD (age range = 6 to 12). We applied a language task involving auditory sentences describing congruent or incongruent images. We investigated two ERP components associated with language processing: the N400 and P600. Our results showed how children with ASD present significant differences in their neural responses in comparison with the TD group, even when their reaction times and correct trials are not significantly different from the TD group.

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16. Mason D, Taylor H, Ingham B, Finch T, Wilson C, Scarlett C, Urbanowicz A, Nicolaidis C, Lennox N, Moss S, Buckley C, Sally-Ann C, Osborne M, Garland D, Raymaker D, Parr JR. Views about Primary Care health checks for autistic adults: UK survey findings. BJGP Open;2022 (May 26)

BACKGROUND: Compared to the general population, autistic adults experience higher rates of physical and mental health conditions, premature morbidity and mortality, and barriers to healthcare. A health check for autistic people may improve their health outcomes. AIM: To establish the views of autistic people toward a primary care health check for autistic people. DESIGN AND SETTING: Cross-sectional questionnaire study. METHODS: A questionnaire was sent to autistic adults with physical health conditions in England and Wales. 458 people (441 autistic adults and 17 proxy responders) completed the questionnaire. RESULTS: Most respondents (72.9%, n=336) thought a health check is needed for all autistic people. Around half of the participants thought a health check should be offered from childhood and the health check appointment should last between 15 and 30 minutes. Autistic people were positive about providing primary care staff with contextual information regarding their health and the reasonable adjustments they would like prior to their health check appointment. Training about autism and the health check was considered important, alongside adequate time for discussions in the health check appointment (all by over 80% of respondents). Clinician’s autism knowledge, seeing a familiar clinician, environmental adaptations, appropriate information, and accessible appointments were considered particularly important in making a health check accessible. CONCLUSIONS: Autistic people and relatives were supportive of a primary care health check for autistic people. Information gathered was used to support the design of a primary care health check for autistic adults.

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17. McDonald TAM, Lalani S, Chen I, Cotton CM, MacDonald L, Boursoulian LJ, Wang J, Malow BA. Appropriateness, Acceptability, and Feasibility of a Neurodiversity-Based Self-determination Program for Autistic Adults. J Autism Dev Disord;2022 (May 26)

Published self-determination programs do not adequately address the needs of autistic adults. We designed a multi-component self-determination program, grounded in the neurodiversity paradigm, to help autistic adults achieve goals to improve their quality of life. The first phase involved 5 days of psychoeducation, practice, and social events; the second phase included 3 months of telecoaching; and the third phase included follow-up. Thirty-four university students coached 31 autistic adults on three evolving goals. On average, participants completed one goal per week. Most participants were satisfied with the program. We found that the program was appropriate, acceptable, and feasible. This program is a promising approach to helping autistic adults gain self-determination skills and improve their quality of life.

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18. Morsa M, De Andrade V, Alcaraz C, De La Tribonnière X, Rattaz C, Baghdadli A. A scoping review of education and training interventions in Autism Spectrum Disorder. Patient Educ Couns;2022 (May 21)

OBJECTIVE: Autism Spectrum Disorder (ASD) is a chronic neurodevelopmental disorder. Living with ASD requires that individuals and parents develop skills in order to cope with daily life. Education interventions are recommended to support them. This study aims to get an overview of education and training interventions in ASD. METHODS: A scoping review of international literature was conducted. RESULTS: 43 articles were analyzed. Four main types of intervention stand out: support groups, parental training; psychoeducation; therapeutic patient education. However, the majority of publications is focused on the parents rather than on individuals living with ASD, and the needs assessments identified focused on general needs rather than educational needs. CONCLUSION: While educational interventions for parents and individuals with ASD are now encouraged, considerable heterogeneity is observed. But this variety is not based on a reasoned approach to matching supply and needs. Future studies could focus more on the educational needs of individuals with ASD. PRACTICE IMPLICATIONS: Overview of education and training interventions in ASD help health care providers to better understand the strengths and limitations of their interventions.

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19. Murphy MSQ, Ducharme R, Hawken S, Corsi DJ, Petrcich W, El-Chaâr D, Bisnaire L, McIsaac DI, Fell DB, Wen SW, Walker MC. Exposure to Intrapartum Epidural Analgesia and Risk of Autism Spectrum Disorder in Offspring. JAMA Netw Open;2022 (May 2);5(5):e2214273.

IMPORTANCE: There is conflicting evidence on the association between intrapartum epidural analgesia and risk of autism spectrum disorder (ASD) in offspring. OBJECTIVE: To evaluate the association between intrapartum epidural analgesia and the risk of ASD in offspring. DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study was conducted in Ontario, Canada, using the health and administrative records of singleton live births by vaginal delivery between April 1, 2006, and March 31, 2014. Neonates with less than 24 weeks’ gestation or weighing less than 500 g were excluded. Offspring were followed up from 18 months of age until ASD diagnosis, loss to follow-up, or the end of the study (December 31, 2020), whichever occurred first. Exposure, covariate, and outcome data were obtained using provincial health administrative databases. EXPOSURES: Any intrapartum exposure to epidural or combined spinal-epidural analgesia. MAIN OUTCOMES AND MEASURES: The primary outcome was ASD diagnosis after 18 months of age. Inverse probability of treatment weighting (IPTW) of Cox proportional hazards regression models was used to estimate the hazard ratio (HR) of intrapartum epidural analgesia and ASD in offspring. Offspring head injury was used as a control outcome. Models were adjusted for maternal sociodemographic factors, health behaviors, and medical and obstetrical history as well as labor, delivery, and offspring characteristics. Post hoc analyses included restriction to term neonates, a conditional within-mother analysis, exclusion of records with concomitant intrapartum pain management exposures, a complete case analysis, use of an alternative ASD definition, and estimation of the average treatment effect in the treated group. RESULTS: Among the 650 373 mother-offspring pairs included in the study, 418 761 (64.4%) were exposed to intrapartum epidural analgesia. The mean (SD) maternal age at delivery was 29.7 (5.5) years; the offspring had a mean (SD) gestational age at delivery of 39.1 (1.6) weeks and included 329 808 male newborns (50.7%). The exposed and unexposed groups were similar in all maternal and newborn characteristics after IPTW (standardized difference <0.10). Autism spectrum disorder was diagnosed in 7546 offspring (1.8%) of mothers who received intrapartum epidural analgesia (incidence rate, 18.8 [95% CI, 18.4-19.3] per 10 000 person-years) compared with 3234 offspring (1.4%) who were unexposed (incidence rate, 14.4 [95% CI, 13.9-14.9] per 10 000 person-years). The crude HR for ASD associated with intrapartum epidural analgesia was 1.30 (95% CI, 1.25-1.36), and the IPTW-adjusted HR was 1.14 (95% CI, 1.08-1.21). Results did not qualitatively differ in post hoc analyses. CONCLUSIONS AND RELEVANCE: Results of this study showed that intrapartum epidural analgesia was associated with a small increase in risk for ASD in offspring. The biological plausibility of this association, however, remains unclear, and the finding must be interpreted with caution.

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20. Oomen D, Kaddouri RE, Brass M, Wiersema JR. Neural correlates of own name and own face processing in neurotypical adults scoring low versus high on symptomatology of autism spectrum disorder. Biol Psychol;2022 (May 23):108358.

Previous event-related potential (ERP) research showed reduced self-referential processing in autism spectrum disorder (ASD). As different self-related stimuli were studied in isolation, it is unclear whether findings can be ascribed to a common underlying mechanism. Further, it is unknown whether altered self-referential processing is also evident in neurotypicals scoring high on ASD symptomatology. We compared ERPs in response to one’s own name and face (versus other names/faces) between neurotypical adults scoring high versus low on ASD symptomatology. Conform previous research, the parietal P3 was enhanced, both for own name and face, indicating a self-referential effect. The N250 was only enhanced for one’s own face. However, the self-referential parietal P3 effect did not correlate between the names and faces conditions, arguing against a common underlying mechanism. No group effects appeared, neither for names nor faces, suggesting that reduced self-referential processing is not a dimensional ASD feature in the neurotypical population.

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21. Ramirez-Celis A, Croen LA, Yoshida CK, Alexeeff SE, Schauer J, Yolken RH, Ashwood P, Van de Water J. Maternal autoantibody profiles as biomarkers for ASD and ASD with co-occurring intellectual disability. Mol Psychiatry;2022 (May 26)

Maternal autoantibody-related ASD (MAR ASD) is a subtype of autism in which pathogenic maternal autoantibodies (IgG) cross the placenta, access the developing brain, and cause neurodevelopmental alterations and behaviors associated with autism in the exposed offspring. We previously reported maternal IgG response to eight proteins (CRMP1, CRMP2, GDA LDHA, LDHB, NSE, STIP1, and YBOX) and that reactivity to nine specific combinations of these proteins (MAR ASD patterns) was predictive of ASD risk. The aim of the current study was to validate the previously identified MAR ASD patterns (CRMP1 + GDA, CRMP1 + CRMP2, NSE + STIP1, CRMP2 + STIP1, LDHA + YBOX, LDHB + YBOX, GDA + YBOX, STIP1 + YBOX, and CRMP1 + STIP1) and their accuracy in predicting ASD risk in a prospective cohort employing maternal samples collected prior to parturition. We used prenatal plasma from mothers of autistic children with or without co-occurring intellectual disability (ASD = 540), intellectual disability without autism (ID = 184) and general population controls (GP = 420) collected by the Early Markers for Autism (EMA) study. We found reactivity to one or more of the nine previously identified MAR ASD patterns in 10% of the ASD group compared with 4% of the ID group and 1% of the GP controls (ASD vs GP: Odds Ratio (OR) = 7.81, 95% Confidence Interval (CI) 3.32 to 22.43; ASD vs ID: OR = 2.77, 95% CI (1.19-7.47)) demonstrating that the MAR ASD patterns are strongly associated with the ASD group and could be used to assess ASD risk prior to symptom onset. The pattern most strongly associated with ASD was CRMP1 + CRMP2 and increased the odds for an ASD diagnosis 16-fold (3.32 to >999.99). In addition, we found that several of these specific MAR ASD patterns were strongly associated with ASD with intellectual disability (ASD + ID) and others associated with ASD without ID (ASD-no ID). Prenatal screening for these MAR patterns may lead to earlier identification of ASD and facilitate access to the appropriate early intervention services based on each child’s needs.

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22. Ribolsi M, Albergo G, Fiori Nastro F, Pelle M, Contri V, Niolu C, Di Lazzaro V, Siracusano A, Di Lorenzo G. Autistic symptomatology in UHR patients: A preliminary report. Psychiatry Res;2022 (May 14);313:114634.

Several studies have evaluated the level of autistic symptomatology in schizophrenia patients (SCZ) and ultra-high risk for psychosis (UHR) patients, but the data are not conclusive. Using the PANSS Autism Severity Score (PAUSS) scale, we found that the degree of autistic symptomatology in UHR patients is significantly lower compared to SCZ patients but higher than in patients with a mood disorder. Moreover, we found a significant correlation between autistic symptomatology and the severity of formal thought disorders, confirming Bleuler’s hypothesis about autism and association disorders as core features of psychosis.

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23. Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med;2022 (May 25)

PURPOSE: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. METHODS: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. RESULTS: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. CONCLUSION: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs.

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24. Rosenberg K. Developmental Surveillance Program Useful in Early Identification of Autism. Am J Nurs;2022 (Jun 1);122(6):58.

According to this study: Results of a community-based study provide strong support for the use of the developmental surveillance program for early identification of autism in the general population.

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25. Rouhandeh AA, Honsberger C, Shanok NA, Lozott EB, Levy T, Kolevzon A, Buxbaum JD, Sotelo M, Foss-Feig J, Siper PM. Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism. J Autism Dev Disord;2022 (May 26):1-9.

As early identification of autism improves, there is a critical need for interventions to support the development of social communication skills in toddlers. Caregiver coaching and parental involvement is crucial for improving outcomes and providing children with adequate hours of planned active engagement. This pilot study assessed a 4-week intervention for individual caregiver-child dyads. Eight toddlers 21- to 45-months of age participated. Standardized assessments were collected at four study visits to assess autism symptomatology, language development, and both caregiver knowledge and engagement. Results demonstrated the feasibility of the intervention. Social communication, receptive and expressive language all improved as measured by direct assessment. Caregiver knowledge and caregivers’ subjective feelings of engagement with their toddlers also improved.

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26. Silva EADJ, Medeiros WMB, Santos J, Sousa JMM, Costa FBD, Pontes KM, Borges TC, Espínola CNS, Andrade ESAH, Nunes ELG, Torro N, Rosa MDD, Albuquerque K. Evaluation of the efficacy and safety of cannabidiol-rich cannabis extract in children with autism spectrum disorder: randomized, double-blind and controlled placebo clinical trial. Trends Psychiatry Psychother;2022 (May 26);44

INTRODUCTION: Autism Spectrum Disorder is characterized by persistent deficits in social communication, social interaction, and restricted and repetitive patterns of behavior. Some studies have shown that substances derived from Cannabis sativa improve the quality of life of autistic children without causing serious adverse effects, thus providing a therapeutic alternative. METHOD: This was a randomized, double-blind, placebo-controlled clinical trial to evaluate the efficacy and safety of a cannabis extract rich in cannabidiol (CBD) in autistic children. Sixty children, aged between 5 and 11 years, were selected and divided into two groups: the treatment group, which received the CBD-rich cannabis extract, and the control group, which received the placebo, both used the product for a period of 12 weeks. Statistical analysis was done by two-factor mixed analysis of variance (ANOVA two way). RESULTS: Significant results were found for social interaction [F(1,116)=14.13, p=0.0002)], anxiety [F(1,116)=5.99, p=0.016], psychomotor agitation [F(1,116)=9.22, p=0.003)], number of meals a day [F(1,116)=4.11, p=0.04)] and concentration [F (1,48)=6.75, p=0.01], the latter being significant only in mild autism spectrum disorder. Regarding safety, it was found that only three children in the treatment group (9.7%) had adverse effects, namely dizziness, insomnia, colic and weight gain. CONCLUSION: CBD-rich cannabis extract was found to improve one of the diagnostic criteria for ASD (social interaction), as well as often co-existing features, and to have few serious adverse effects.

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27. Souza C, Garrido MV, Horchak OV, Barahona-Correa JB, Carmo JC. The Distinctive Pattern of Declarative Memories in Autism Spectrum Disorder: Further Evidence of Episodic Memory Constraints. J Autism Dev Disord;2022 (May 26)

This study examines declarative memory retrieval in ASD depending on the availability and access to stored conceptual knowledge. Fifteen autistic participants and a matched control group of 18 typically-developed (TD) volunteers completed a Remember-Know paradigm manipulated by encoding-type (categorical, perceptual) and item-typicality (high-typical, low-typical). The autistic group showed worse and slower recognition and less recollection but equivalent familiarity-based memories compared to TDs. Notably, low-typical items did not improve their memories as they did for TDs, likely due to difficulties in matching low-fit information to the stored schema. Results suggest that memory decline in ASD may derive from the episodic system and its dynamics with the semantic system. These findings may inform interventional strategies for enhancing learning abilities in ASD.

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28. Stewart GR, Corbett A, Ballard C, Creese B, Aarsland D, Hampshire A, Charlton RA, Happé F. Self-harm and Suicidality Experiences of Middle-Age and Older Adults With vs. Without High Autistic Traits. J Autism Dev Disord;2022 (May 26)

Suicide has been identified as a leading cause of premature death in autistic populations. Elevated autistic traits have also been associated with higher rates of self-harm, suicidal ideation, and suicidal self-harm in the general population, but this has yet to be examined in older age. Using baseline cross-sectional data from the PROTECT study, middle-age and older adults with high autistic traits (n = 276) had significantly higher rates of suicidal ideation, deliberate self-harm, and suicidal self-harm than an age/sex-matched comparison group (n = 10,495). These differences represented a 5- to 6-fold increase in likelihood for self-harming and suicidality. These findings, which remained when controlling for depression symptoms, suggest that middle-age and older adults with high autistic traits may be particularly at risk of self-harm and suicidal behaviours.

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29. Webb SJ, Emerman I, Sugar C, Senturk D, Naples AJ, Faja S, Benton J, Borland H, Carlos C, Levin AR, McAllister T, Santhosh M, Bernier RA, Chawarska K, Dawson G, Dziura J, Jeste S, Kleinhans N, Murias M, Sabatos-DeVito M, Shic F, McPartland JC. Identifying Age Based Maturation in the ERP Response to Faces in Children With Autism: Implications for Developing Biomarkers for Use in Clinical Trials. Front Psychiatry;2022;13:841236.

Recent proposals have suggested the potential for neural biomarkers to improve clinical trial processes in neurodevelopmental conditions; however, few efforts have identified whether chronological age-based adjustments will be necessary (as used in standardized behavioral assessments). Event-related potentials (ERPs) demonstrate early differences in the processing of faces vs. objects in the visual processing system by 4 years of age and age-based improvement (decreases in latency) through adolescence. Additionally, face processing has been proposed to be related to social skills as well as autistic social-communication traits. While previous reports suggest delayed latency in individuals with autism spectrum disorder (ASD), extensive individual and age based heterogeneity exists. In this report, we utilize a sample of 252 children with ASD and 118 children with typical development (TD), to assess the N170 and P100 ERP component latencies (N170L and P100L, respectively), to upright faces, the face specificity effect (difference between face and object processing), and the inversion effect (difference between face upright and inverted processing) in relation to age. First, linear mixed models (LMMs) were fitted with fixed effect of age at testing and random effect of participant, using all available data points to characterize general age-based development in the TD and ASD groups. Second, LMM models using only the TD group were used to calculate age-based residuals in both groups. The purpose of residualization was to assess how much variation in ASD participants could be accounted for by chronological age-related changes. Our data demonstrate that the N170L and P100L responses to upright faces appeared to follow a roughly linear relationship with age. In the ASD group, the distribution of the age-adjusted residual values suggest that ASD participants were more likely to demonstrate slower latencies than would be expected for a TD child of the same age, similar to what has been identified using unadjusted values. Lastly, using age-adjusted values for stratification, we found that children who demonstrated slowed age-adjusted N170L had lower verbal and non-verbal IQ and worse face memory. These data suggest that age must be considered in assessing the N170L and P100L response to upright faces as well, and these adjusted values may be used to stratify children within the autism spectrum.

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30. Weir E, Allison C, Baron-Cohen S. Autistic adults have poorer quality healthcare and worse health based on self-report data. Mol Autism;2022 (May 26);13(1):23.

BACKGROUND: Recent research suggests that autistic individuals have shorter lifespans and experience worse health (greater health burden) than non-autistic individuals. Small, qualitative studies suggest that autistic adults also experience poor self-reported healthcare quality. METHODS: An anonymized, cross-sectional, self-report questionnaire was administered to n = 4158 individuals. The study assessed prevalence of chronic health conditions, healthcare quality, differences in overall health inequality score, and effects of the coronavirus pandemic on healthcare quality. We used Fisher’s exact tests, binomial logistic regression, and predictive machine learning tools, as appropriate. RESULTS: The final sample included n = 2649 participants (n = 1285 autistic) aged 16-96 years. Autistic adults reported lower quality healthcare than non-autistic adults across 50/51 items, including poorer access to healthcare and poorer communication, alongside increased anxiety, sensory sensitivity, system-level problems, shutdowns, and meltdowns. Differences between groups were stark: aggregated health inequality scores predicted autism diagnosis, even after stratifying by sex. Autistic adults were also more likely to have chronic health conditions than non-autistic adults. There were no significant differences in healthcare quality for autistic adults before and during the pandemic, although they received relatively poorer quality healthcare than non-autistic adults across both periods. LIMITATIONS: The study’s sampling methods are not likely to capture the perspectives of all autistic individuals, especially those with intellectual disability. Both the autistic and control samples are biased towards UK residents, white individuals, those assigned female at birth, and those who completed an undergraduate degree or higher education. As such, these results may limit their generalizability to other groups. Finally, these results relate to self-reported differences in healthcare quality between autistic and non-autistic adults. The observed group differences may in part reflect differences in perception and communication rather than differences in actual healthcare quality. CONCLUSIONS: Autistic adults are more likely to have chronic health conditions alongside self-reported lower quality healthcare than others. Health inequalities between these groups are widespread and dramatic; unfortunately, they existed before and have persisted after the onset of the coronavirus pandemic.

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31. Xuan B, Li S, Li P, Yang L. Time perception of individuals with subthreshold autistic traits: the regulation of interpersonal information associations. BMC Psychiatry;2022 (May 27);22(1):362.

BACKGROUND: People with high subthreshold autistic traits usually share behavioral patterns similar to those of individuals on the autism spectrum, but with fewer social and cognitive changes. The effect of autistic traits on time perception and the role of interpersonal information in this effect remain unexplored. METHODS: This study used a temporal bisection task between 400 and 1600 ms to compare the time perception of individuals with higher and lower autistic traits, and to explore the regulation of interpersonal information on their time perception by establishing associations between identities and geometric shapes. Thirty-two participants with high autistic traits and thirty-one participants with low autistic traits participated in this study. RESULTS: In the absence of identity information, people with high autistic traits tended to judge short durations as longer. Their subjective bisection point was lower, and the Weber ratio was higher than for those with low autistic traits, suggesting that their overestimation of short duration was due to decreased temporal sensitivity. With the involvement of interpersonal information, the proportion of long responses for no identity was significantly lower than for self, friends, and strangers, which seemed more obvious in individuals with low autistic traits although there was no significant interaction between identity and group. The Weber ratio of no identity was lower than that for other identities. CONCLUSION: The results suggest that individuals with high autistic traits have more conservative responses that are relatively shorter in duration, and this change is related to a decline in perceptual sensitivity. Compared to individuals with high autistic traits, the time perception of individuals with low autistic traits seemed more susceptible to interpersonal information.

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32. Yao Y, Uddin MN, Manley K, Lawrence DA. Improvements of autism-like behaviors but limited effects on immune cell metabolism after mitochondrial replacement in BTBR T(+)Itpr3(tf)/J mice. J Neuroimmunol;2022 (May 19);368:577893.

Mitochondria-mediated metabolic impairment and dysfunction are highly related with autism. Herein, the mitochondria-mediated metabolism of BTBR T(+)Itpr3(tf)/J (BTBR) mice with autistic-like behaviors was investigated. A new BTBR-mt(B6) strain generated by deriving BTBR mice with C57BL/6J (B6) mitochondria was used to determine the role of the mitochondrial genome. The BTBR-mt(B6) mice had improved social behaviors, higher levels of glutamate and astrocytes in the brain and less neuroinflammation than the BTBR mice; however, many of the metabolic parameters of BTBR mice such as enhanced fatty acid β-oxidation and lower glycolysis and glutaminolysis in immune cells compared to B6 mice were not or only partial improved in the BTBR-mt(B6) strain. The BTBR and BTBR-mt(B6) mice also had equivalent ETC (enhanced electron transport chain) activity of mitochondria, with an increase of reactive oxygen species (ROS) and decreased mitochondrial membrane potential compared to the B6 mice. The results suggest that the mitochondrial replacement with its metabolic alterations affect brain functions more than peripheral immune cell activities.

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