Pubmed du 26/05/22

Pubmed du jour

1. Bosch R, Chakhssi F, Noordzij ML. Acceptance and potential clinical added value of biocueing in forensic psychiatric patients with autism spectrum disorder and/or intellectual disability. Psychiatry Res;2022 (May 19);313:114645.

Autism spectrum disorder (ASD) and intellectual disability (ID) are prevalent in forensic psychiatric samples. People with ASD and/or ID often experience difficulties in emotion processing which can lead to aggressive or self-harming behavior. The use of biocueing (using wearable technology to constantly monitor and provide feedback on bodily changes) shows promise for improving emotion processing and, thus, potentially reducing aggressive behavior in this population. Both qualitative and quantitative methods were used to examine the feasibility and acceptance of Sense-IT, a biocueing application, in a sample of forensic psychiatric patients with ASD and/or ID and their forensic psychiatric nurses. To our knowledge, the current study is the first to examine first-person experiences with biocueing in forensic psychiatric patients with ASD and/or ID. Results show that, in general, participants experienced the biocueing application as positive and are willing to use biocueing. This is an important finding since forensic patients are often unmotivated to engage with therapeutic techniques. An exploration of trends in aggression and self-harm prior to and during the use of biocueing showed no significant changes. Future research should focus on the way biocueing can be implemented in clinical practice.

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2. 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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3. 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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4. Jain V, Selvaraj A, Mittal R, Rani P, Kilpattu Ramaniharan A, Agastinose Ronickom JF. Automated Diagnosis of Autism Spectrum Disorder Condition Using Shape Based Features Extracted from Brainstem. Stud Health Technol Inform;2022 (May 25);294:53-57.

Alterations to the brainstem can hamper cognitive functioning, including audiovisual and behavioral disintegration, leading to individuals with Autism Spectrum Disorder (ASD) face challenges in social interaction. In this study, a process pipeline for the diagnosis of ASD has been proposed, based on geometrical and Zernike moments features, extracted from the brainstem of ASD subjects. The subjects considered for this study are obtained from publicly available data base ABIDE (300 ASD and 300 typically developing (TD)). Distance regularized level set (DRLSE) method has been used to segment the brainstem region from the midsagittal view of MRI data. Similarity measures were used to validate the segmented images against the ground truth images. Geometrical and Zernike moments features were extracted from the segmented images. The significant features were used to train Support vector machine (SVM) classifier to perform classification between ASD and TD subjects. The similarity results show high matching between DRLSE segmented brainstem and ground truth with high similarity index scores of Pearson Heron-II (PH II) = 0.9740 and Sokal and Sneath-II (SS II) = 0.9727. The SVM classifier achieved 70.53% accuracy to classify ASD and TD subjects. Thus, the process pipeline proposed in this study is able to achieve good accuracy in the classification of ASD subjects.

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5. 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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6. 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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7. Vilanova JRS, Carneiro CT, Rocha KNS, Brito MA, Rocha RC, Costa AC, Bezerra MAR. Burden of mothers of children diagnosed with autism spectrum disorder: mixed method study. Rev Gaucha Enferm;2022;43:e20210077.

OBJECTIVE: To analyze the maternal burden related to the care of children diagnosed with autism spectrum disorder. METHOD: Study with a mixed-method sequential explanatory design held at the Association of Friends and Families of Special Children and in a WhatsApp® Messenger group, with 51 (quantitative phase) and six (qualitative phase) mothers, between January and October 2019. For data collection, in the quantitative phase, a sociodemographic, economic and child care characterization form and a Zarit Burden Interview instrument were used. Semi-structured interview was used in the qualitative phase. Descriptive bivariate and multivariate analysis (quantitative) and Bardin analysis (qualitative) were performed. RESULTS: A total of 64.7% mothers felt burdened, with mild to moderate burden (52.9%). Four analytical categories on elements that trigger maternal burden emerged. CONCLUSIONS: There is an urgent need to identify maternal burden related to the care of children with autism spectrum disorder, during assistance in Primary Health Care.

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8. Hamblin MR. Could Photobiomodulation Treat Autism Spectrum Disorder?. Photobiomodul Photomed Laser Surg;2022 (May 25)

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9. 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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10. 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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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. 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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13. 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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14. 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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15. 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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16. 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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17. Shea LL, Becker A, Lee BK, Miller KK, Cooper D, Anderson K, Salzer MS, Vanness DJ. Self-reported COVID-19 vaccination acceptance and hesitancy among autistic adults. Vaccine;2022 (May 26);40(24):3288-3293.

Identifying factors associated with COVID-19 vaccination acceptance among vulnerable groups, including autistic individuals, can increase vaccination rates and support public health. The purpose of this study was to determine differences among autistic adults who reported COVID-19 vaccination acceptance from those who did not. In this study we describe COVID-19 vaccination status and self-reported preferences among autistic adults and identify related factors. Vaccine accepters were more likely to report increased loneliness during COVID-19, lived in more populous counties (p = 0.02), and lived in counties won by President Biden in the 2020 US presidential election (p < 0.001). Positive correlations were found between desire to protect others, concern about contracting COVID-19, and trusting vaccine safety (p < 0.001). Concern about vaccine safety was common among the vaccine hesitant, while lack of concern about COVID-19 overall was not. Identifying health promotion strategies based on self-reported, lived experiences about COVID-19 among vulnerable groups is key for public health impact.

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18. 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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19. Christiansen A. Uniquely Human: A Different Way of Seeing Autism. J Dev Behav Pediatr;2022 (May 26)

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20. 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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