Pubmed du 12/03/23

Pubmed du jour

1. Berloco B, Guerrera S, Fucà E, Menghini D, Valeri G, Nobili L, Vicari S. Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress. J Autism Dev Disord;2023 (Mar 11)

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2. Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C. Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals. Cells;2023 (Feb 27);12(5)

Fragile X syndrome (FXS) is the most common form of monogenic intellectual disability and autism, caused by the absence of the functional fragile X messenger ribonucleoprotein 1 (FMRP). FXS features include increased and dysregulated protein synthesis, observed in both murine and human cells. Altered processing of the amyloid precursor protein (APP), consisting of an excess of soluble APPα (sAPPα), may contribute to this molecular phenotype in mice and human fibroblasts. Here we show an age-dependent dysregulation of APP processing in fibroblasts from FXS individuals, human neural precursor cells derived from induced pluripotent stem cells (iPSCs), and forebrain organoids. Moreover, FXS fibroblasts treated with a cell-permeable peptide that decreases the generation of sAPPα show restored levels of protein synthesis. Our findings suggest the possibility of using cell-based permeable peptides as a future therapeutic approach for FXS during a defined developmental window.

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3. Da Costa IGR, Brugnaro BH, Lima CRG, Kraus de Camargo O, Fumincelli L, Pavão SL, Rocha N. Perceived Social Support and Quality of Life of Children with and without Developmental Disabilities and Their Caregivers during the COVID-19 Pandemic in Brazil: A Cross-Sectional Study. Int J Environ Res Public Health;2023 (Mar 2);20(5)

BACKGROUND: Social support and Quality of life (QoL) are important aspects of life and should be explored during the specific scenario of the pandemic. AIMS: (i) to compare the perceived social support (PSS) in caregivers and the domains of QoL of the caregiver and the child with developmental disabilities (DD) and typical development (TD); (ii) to verify the existence of the association, in each group, between the PSS, and the domain of QoL of the caregiver and the child. METHODS AND PROCEDURES: 52 caregivers of children with DD and 34 with TD participated remotely. We assessed PSS (Social Support Scale), children’s QoL (PedsQL-4.0-parent proxy) and caregivers’ QoL (PedsQL-Family Impact Module). The groups were compared for the outcomes using the Mann-Whitney test, and Spearman’s test evaluated the correlation between the PSS and the QoL (child and caregiver) in each of the groups. OUTCOMES AND RESULTS: There was no difference between groups for PSS. Children with DD presented lower values in PedsQL total, psychosocial health, physical health, social activities, and school activity. Caregivers of children with TD presented lower values in PedsQL family total, physical capacity, emotional aspect, social aspect, daily activities, and higher value in communication. In the DD group, we found a positive relationship between PSS with child: Psychosocial Health (r = 0.350) and Emotional Aspect (r = 0.380), and with family: Total (r = 0.562), Physical Capacity (r = 0.402), Emotional Aspect (r = 0.492), Social Aspect (r = 0.606), Communication (r = 0.535), Concern (r = 0.303), Daily Activities (r = 0.394) and Family Relationships (r = 0.369). In the TD group, we found that PSS was positively associated with Family: Social Aspect (r = 0.472) and Communication (r = 0.431). CONCLUSIONS AND IMPLICATIONS: During the COVID-19 pandemic, despite both groups presenting similar PSS, there are important differences in QoL between them. For both groups, greater levels of perceived social support are associated with greater caregiver-reported in some domains of the child’s and caregiver’s QoL. These associations are more numerous, especially for the families of children with DD. This study provides a unique view into the relationships between perceived social support and QoL during the « natural experiment » of living through a pandemic.

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4. Fu W, Ji C. Application and Effect of Virtual Reality Technology in Motor Skill Intervention for Individuals with Developmental Disabilities: A Systematic Review. Int J Environ Res Public Health;2023 (Mar 6);20(5)

Children and adolescents with developmental disabilities are often impaired with motor function, and motor skills are related to the performance of daily living activities, and their defects may limit social participation and reduce the quality of life. With the progress of information technology, virtual reality is used as an emerging and alternative intervention method for the intervention of its motor skills. However, the application of this field is still limited in our country, so it is of great significance to systematically analyze the foreign intervention in this field. The research used Web of Science, EBSCO, PubMed, and other databases to search the literature published in the past ten years on the application of virtual reality technology in the motor skill intervention of people with developmental disabilities, and analyzed the demographic characteristics, intervention target behavior, intervention time, intervention effect, and statistical methods. The advantages and disadvantages of research in this field are summarized, and on this basis, the reflection and prospects for follow-up intervention research are put forward.

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5. Hernández Lara M, Caro K, Martínez-García AI. Technology for supporting emotion regulation of individuals with developmental disabilities: A scoping review. Res Dev Disabil;2023 (Mar 9);136:104467.

BACKGROUND: Emotional competencies are skills necessary to adequately understand, express, and regulate emotional phenomena. Among the emotional competencies is emotion regulation. Not having adequate development of this emotional competence is related to psychological problems such as depression. One of the characteristics of individuals with developmental disabilities is the presence of difficulties with emotion regulation. These difficulties can affect an individual’s autonomy, social competence, and the development of independent life. AIMS: This paper presents a scoping review to identify the technology designed and developed to support the emotion regulation of individuals with developmental disabilities. METHODS AND PROCEDURES: We combined the guidelines for a systematic literature review in computer science and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. The process resulted in twelve stages through which we conducted this scoping review. First, a search query was defined and executed in computer science’s five most representative search engines. We used different inclusion, exclusion, and quality criteria for selecting the works included in this review. OUTCOMES AND RESULTS: Thirty-nine papers aimed at supporting the emotional competencies of individuals with developmental disabilities were included, of which nine support emotion regulation. As a result, different areas of opportunity in developing technology to support the emotion regulation of individuals with developmental disabilities are discussed. CONCLUSIONS AND IMPLICATIONS: Technology supporting emotion regulation in individuals with developmental disabilities is a growing but little-explored field. For the literature supporting emotion regulation, we detected opportunities for study. Some of them aimed at investigating whether we could use technologies developed for other emotional competencies to support emotion regulation and how the characteristics of this technology can support individuals with developmental disabilities.

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6. Kacimi FE, Ed-Day S, Didou L, Azzaoui FZ, Ramchoun M, Arfaoui A, Boulbaroud S. Narrative Review: The Effect of Vitamin A Deficiency on Gut Microbiota and Their Link with Autism Spectrum Disorder. J Diet Suppl;2023 (Mar 11):1-19.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders defined by a lack of social behaviors, repetitive behaviors and nonverbal interactions, such as limited eye contact, facial expression, and body gesturing. It is not a single condition, but rather a multi-factorial disorder caused by hereditary and non-genetic risk factors, as well as their interaction. According to several studies, the gut microbiota may have a role in the pathophysiology of autism spectrum disorder. Various studies have found differences in the composition of the gastrointestinal (GI) microbiota in children with ASD compared to unaffected siblings and/or healthy unrelated controls. The processes that relate the gut microbiota to brain dysfunctions (the gut-brain axis) in ASD are yet to be fully understood. However, the differences in the gastrointestinal composition might be due to vitamin A deficiency because vitamin A (VA) plays a role in the regulation of the intestinal microbiota. This narrative review discusses the impact of vitamin A deficiency on the gut microbiota composition and tries to understand how this may contribute for the development and severity of ASD.

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7. Li X, Nie Y, Qiu Z, Wang S. Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability. Biochem Biophys Res Commun;2023 (Mar 12);648:28-35.

Methylated CpG binding protein 2 (MeCP2) plays an important role in the development and normal function of the neural system. Abnormally high expression of MECP2 leads to a subtype of autism called MECP2 duplication syndrome and MECP2 is considered one of the key pathogenic genes for autism spectrum disorders. However, the effect of MECP2 overexpression on neural activity is still not fully understood. Thus, transgenic (TG) animals that abnormally overexpress MeCP2 are important disease models in research on neurological function and autism. To create an animal model with a stronger and more stable autism phenotype, this study established a human MECP2 TG rat model and evaluated its movement ability, anxiety, and social behavior through behavioral tests. The results showed that MECP2 TG rats had an abnormally increased anxiety phenotype and social deficits in terms of abnormal social approach and social novelty preference, but no movement disorder. These autism-like behavioral phenotypes suggest that human MECP2 TG rats are suitable models for studying autism as they show more severe social deficit phenotypes and without interference from movement disorders affecting other phenotypes, which is an issue for mouse models with MECP2 duplication. In addition, this study performed preliminary exploration of the influence of the human MECP2 transgene on neural oscillation stability of the medial prefrontal cortex (mPFC), which is an important brain region for social interactions. Oscillation stability in MECP2 TG rats showed abnormal responses to social conditions. Overall, the results of this study provide a new research tool for understanding the mechanism of social impairment and treatment of autism. The results also provide evidence for the influence of MECP2 duplication on mPFC neural activity.

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8. Lin X, Lin L, Wang X, Li X, Cao M, Jing J. Association between Mothers’ Emotional Problems and Autistic Children’s Behavioral Problems: The Moderating Effect of Parenting Style. Int J Environ Res Public Health;2023 (Mar 5);20(5)

Mothers’ emotional problems are associated with autistic children’s behavioral problems. We aim to test whether parenting styles moderate associations between mothers’ mood symptoms and autistic children’s behavioral problems. A sample of 80 mother-autistic child dyads were enrolled at three rehabilitation facilities in Guangzhou, China. The Social Communication Questionnaire (SCQ) and the Strengths and Difficulties Questionnaire (SDQ) were used to collect the autistic symptoms and behavioral problems of the children. Mothers’ depression and anxiety symptoms were measured using the Patient Health Questionnaire 9 (PHQ-9) and the General Anxiety Disorder 7-item (GAD-7) scale, respectively, and parenting styles were measured using the Parental Behavior Inventory (PBI). Our results show that mothers’ anxiety symptoms were negatively associated with their children’s prosocial behavior scores (β = -0.26, p < 0.05) but positively related to their social interaction scores (β = 0.31, p < 0.05). Supportive/engaged parenting styles positively moderated the effects of mothers' anxiety symptoms on their prosocial behavior score (β = 0.23, p = 0.026), whereas hostile/coercive parenting styles had a negative moderation (β = -0.23, p = 0.03). Moreover, hostile/coercive parenting styles positivity moderated the effects of mothers' anxiety symptoms on social interaction problems (β= 0.24, p < 0.05). The findings highlight, where mothers adopted a hostile/coercive parenting style while experiencing high anxiety, their autistic child may have more serious behavioral problems.

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9. Mbatha NL, Mokwena KE. Parental Stress in Raising a Child with Developmental Disabilities in a Rural Community in South Africa. Int J Environ Res Public Health;2023 (Feb 23);20(5)

Although acceptable levels of parental stress are experienced by all parents who raise children, this stress is substantially higher among parents who raise children with developmental disabilities. Sociodemographic determinants further exacerbate parental stress among parents in rural communities, which are disadvantaged in many ways. This study aimed to quantify parental stress among mothers and female caregivers of children with developmental disorders and investigate factors associated with such stress in rural Kwa-Zulu Natal, South Africa. A cross-sectional quantitative survey was used, in which the Parenting Stress Index-Short Form (PSI-SF) and a sociodemographic questionnaire was administered to mothers and caregivers who were raising children aged 1 to 12 years old who were living with developmental disabilities. The PSI-SF scores were used, where a total score of ≤84 percentile was categorised as normal/no parenting stress, 85-89 percentile was categorised as high parental stress, and scores of ≥90 were classified as clinically significant. The sample of 335 participants consisted of 270 (80.6%) mothers and 65 (19.4%) caregivers. Their ages ranged from 19 to 65 years, with a mean of 33.9 (±7.8) years. The children were mostly diagnosed with delayed developmental milestones, communication difficulties, epilepsy, cerebral palsy, autism, ADHD, cognitive impairment, sensory impairments, and learning difficulties. The majority (52.2%) of the participants reported very high-clinically significant stress levels (≥85%ile). The four factors that independently and significantly predicted high parental stress were the advanced age of mothers and caregivers (p = 0.002, OR 2.3, 95% CI 1.34-3.95), caring for a child with multiple diagnoses (p = 0.013, OR 2.0, 95% CI 1.16-3.50), non-school enrolment of the child (p = 0.017, OR 1.9, 95% CI 1.13-3.46), and frequent hospital visits (p = 0.025, OR 1.9, 95% CI 1.09-3.44). At the subscale level, child non-enrolment in a school was found to independently predict parent distress (PD) and parent-child dysfunctional interaction (P-CDI). Frequent hospital visits were statistically and significantly associated with the difficult child (DC) and P-CDI subscales. The study established high parental stress in mothers and caregivers raising children with developmental disabilities. Lack of access to school was an independent factor that consistently increased parental stress. There is a need for support and directed intervention programs aimed at supporting mothers and caregivers of children with developmental disabilities, which will enhance their parenting abilities.

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10. McConkey R, O’Hagan P, Corcoran J. Parental Perceptions of Family-Centred Supports for Children with Developmental Disabilities. Int J Environ Res Public Health;2023 (Feb 27);20(5)

Family-centred interventions have long been advocated in paediatric practice and in public health, but their implementation is rarer with children experiencing developmental disabilities. Moreover, the uptake is lower in families from more socially deprived backgrounds. Yet there is robust evidence that such interventions bring benefits to the family caregivers as well as to the affected children. The present study emerged from a support service that had been located in a rural county in Ireland in which nearly 100 families of children with intellectual and developmental disabilities had participated. Using a qualitative research methodology, interviews were conducted with 16 parents who had taken part in the service with the aim of gaining insights into the ways a family-centred service had been of value to them. The themes identified in their responses were validated in two ways. All parents were given the opportunity to provide their perceptions using a self-completion questionnaire, and nearly 50% responded. In addition, seven health and social care staff who had referred families to the project were asked their views through personal interviews. The core theme to emerge was the focus placed on family engagement by the service, with four subthemes emerging: parental confidence boosted; children developed; community connections were made; and supportive staff. These insights should help existing health and social care services to become more family-centred and inform the development of new support services in response to the high levels of unmet needs among marginalized families in even the most affluent countries.

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11. Moghaddam AH, Eslami A, Jelodar SK, Ranjbar M, Hasantabar V. Preventive effect of quercetin-Loaded nanophytosome against autistic-like damage in maternal separation model: The possible role of Caspase-3, Bax/Bcl-2 and Nrf2. Behav Brain Res;2023 (Mar 12);441:114300.

The autism is an abnormality in the neuronal advance which starts before age 3 recognized by defective behaviors. This study aimed to make quercetin-loaded nanophytosomes (QNP) on behavioral deficits, cerebellar oxidative stress and apoptosis in an autistic-like model caused by maternal separation (MS). The newborn rats are randomly categorized into seven groups, including control, positive control, disease, and diseases treated with quercetin (10 and 40 mg/kg) and QNP (10 and 40 mg/kg). Pups exposed to MS for 3 h per day from postnatal days (PND) 1-9 showed behavioral impairment in adult rats compared to control group. The oral administration of quercetin and QNP was constantly started after the lactation period (21 postnatal days) for three weeks. Autistic-like behaviors, antioxidant parameters, and Nrf2, Bax/Bcl-2, and Caspase-3 expressions were surveyed in the cerebellum. Quercetin (40 mg/kg) treated improved some behavioral disorders. Also, the improvement of oxidative stress parameters, Nrf2 and apoptotic factors gene expression was observed in the cerebellum of quercetin (40 mg/kg) treated (p < 0.01). QNP treatment (10 and 40 mg/kg) significantly ameliorated anxiety-like behaviors, line crossing, and grooming index (p < 0.001), lipid peroxidation (p < 0.001), and increased catalase (CAT) (p < 0.001), superoxide dismutase (SOD) (p < 0.001), glutathione peroxidase (GPx) (p < 0.001) activity, and glutathione (GSH) levels (p < 0.05). Moreover, QNP significantly reduced Caspase-3 and Bax expression (p < 0.001), but increased Bcl-2, and Nrf2 expressions (p < 0.001). These findings indicated that QNP due to its high bioavailability was more effective than quercetin can be reduced autistic-like behavior, oxidative and apoptotic damages in the model of MS rats.

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12. Rouphael M, Gerges P, Andres C, Sacre Y, Bitar T, Hleihel W. Evaluation of the Lebanese Adults’ Knowledge Regarding Autism Spectrum Disorder. Int J Environ Res Public Health;2023 (Mar 6);20(5)

The daily functioning and overall well-being of people with ASD depends largely on understanding how the wider public views ASD. Indeed, an increased level of ASD knowledge in the general population may result in earlier diagnosis, earlier intervention, and better overall outcomes. The present study aimed to examine the current state of ASD knowledge, beliefs, and sources of information in a Lebanese general population sample, to identify the factors that could influence this knowledge. A total of 500 participants were involved in this cross-sectional study, which was conducted in Lebanon between May 2022 and August 2022 using the Autism Spectrum Knowledge scale, General Population version (ASKSG). Overall, the participants’ understanding of autism spectrum disorder was low, with a mean score of 13.8 (6.69) out of 32, or 43.1%. The highest knowledge score was found for items related to knowledge of the symptoms and associated behaviors (52%). However, the level of knowledge regarding the etiology and prevalence, assessment and diagnosis, treatment, outcomes, and prognosis of the disease was low (29%, 39.2%, 46%, and 43.4%, respectively). Moreover, age, gender, place of residence, sources of information, and ASD case were all statistically significant predictors of ASD knowledge (p < 0.001, p < 0.001, and p = 0.012, p < 0.001, p < 0.001, respectively). The general public in Lebanon perceive a lack of awareness and insufficient knowledge regarding ASD. This results in delayed identification and intervention, leading to unsatisfactory outcomes in patients. Raising awareness about autism among parents, teachers, and healthcare professionals should be a top priority.

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13. Rutherford M, Baxter J, Johnston L, Tyagi V, Maciver D. Piloting a Home Visual Support Intervention with Families of Autistic Children and Children with Related Needs Aged 0-12. Int J Environ Res Public Health;2023 (Mar 1);20(5)

Visual supports are an important intervention for autistic individuals and others with neurodevelopmental differences. However, families often report limited access to visual supports and lack of information and confidence in their use at home. This pilot study aimed to evaluate the feasibility and effectiveness of a home-based visual supports intervention. METHODS: 29 families with children (n = 20 males; mean age 6.59 years [Range 3.64-12.21 years SD 2.57]) receiving support for autism or related needs participated in the study. Parents engaged in an individualised assessment and intervention process through home visits, completing pre- and post-measures. Qualitative methods were used to explore the parents’ experiences of the intervention. RESULTS: The intervention led to a statistically significant improvement in parent-reported quality of life (t28 = 3.09, p = 0.005) and parent-reported perception of autism-specific difficulties (t28 = 2.99, p = 0.006). Parents also reported improved access to resources and relevant information and increased confidence in using visual supports at home. The home visit model was strongly supported by the parents. CONCLUSION: The results provide initial evidence of the acceptability, practicality, and utility of the home-based visual supports intervention. These findings suggest that outreach into the family home may be a beneficial mechanism for delivering interventions related to visual supports. This study highlights the potential of home-based interventions to improve access to resources and information for families and the importance of visual supports in the home setting.

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14. Skórzyńska-Dziduszko KE, Makarewicz A, Błażewicz A. Peripubertal Alterations of Leptin Levels in Patients with Autism Spectrum Disorder and Elevated or Normal Body Weight. Int J Mol Sci;2023 (Mar 2);24(5)

Leptin, which plays a key role in energy homeostasis, is known as a neurotrophic factor possibly linking nutrition and neurodevelopment. Available data on the association between leptin and autism spectrum disorder (ASD) are confusing. The aim of this study was to explore whether plasma levels of leptin in pre- and post-pubertal children with ASD and/or overweightness/obesity differ from those of BMI- and age-matched healthy controls. Leptin levels were determined in 287 pre-pubertal children (mean age 8.09 years), classified as follows: ASD with overweightness/obesity (ASD+/Ob+); ASD without overweightness/obesity (ASD+/Ob-); non-ASD with overweightness/obesity (ASD-/Ob+); non-ASD without overweightness/obesity (ASD-/Ob-). The assessment was repeated in 258 of the children post-pubertally (mean age 14.26 years). There were no significant differences in leptin levels either before or after puberty between ASD+/Ob+ and ASD-/Ob+ or between ASD+/Ob- and ASD-/Ob-, although there was a strong trend toward significance for higher pre-pubertal leptin levels in ASD+/Ob- than in ASD-/Ob-. Post-pubertal leptin levels were significantly lower than pre-pubertal levels in ASD+/Ob+, ASD-/Ob+, and ASD+/Ob- and higher in ASD-/Ob-. Leptin levels, elevated pre-pubertally in the children with overweightness/obesity as well as in children with ASD and normal BMI, decrease with age, in contrast to the increasing leptin levels in healthy controls.

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15. Tateno M, Horie K, Shirasaka T, Nanba K, Shiraishi E, Tateno Y, Kato TA. Clinical Usefulness of a Short Version of the Internet Addiction Test to Screen for Probable Internet Addiction in Adolescents with Autism Spectrum Disorder. Int J Environ Res Public Health;2023 (Mar 6);20(5)

Internet addiction (IA) is defined as the condition of being addicted to all sorts of activities on the Internet. Individuals with neurodevelopmental disorders, including autism spectrum disorder (ASD), may be susceptible to IA. Early detection and intervention for probable IA are important to prevent severe IA. In this study, we investigated the clinical usefulness of a short version of the Internet Addiction Test (s-IAT) for the screening of IA among autistic adolescents. The subjects were 104 adolescents with a confirmed diagnosis of ASD. They were requested to answer 20 questions from the original Internet Addiction Test (IAT). In the data analysis process, we comparatively calculated the sum of scores to the 12 questions of s-IAT. In total, 14 of the 104 subjects were diagnosed as having IA based on the face-to-face clinical interview that was regarded as the gold standard. Statistical analysis suggested that the optimal cut-off for s-IAT was at 35. When we applied the cut-off of 70 on the IAT, only 2 of 14 subjects (14.3%) with IA were screened positive, whereas 10 (71.4%) of them were screened by using the cut-off point of 35 on s-IAT. The s-IAT might be useful for the screening of IA in adolescents with ASD.

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16. Wen J, He S, Yi L. Easily readable? Examining the readability of lay summaries published in Autism Research. Autism Res;2023 (Mar 10)

Communicating science to the general public could sometimes be problematic partly because the language used in scientific writing was difficult to understand for people outside the scientific community. Against this backdrop, lay summaries were introduced to the research community. Lay summaries are short, non-technical summaries of scientific articles that are aimed at a lay audience. Despite the increasing attention on the roles that lay summaries play in scientific communication, it remains unclear whether they are comprehensible to the lay audience. To address the foregoing concerns, this study examines the readability of lay summaries published in Autism Research. It was found that lay summaries were more readable than traditional abstracts but were not easy enough to read for the lay audience. Possible explanations for these findings are discussed.

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17. Wodziński M, Moskalewicz M. Mental Health Experts as Objects of Epistemic Injustice-The Case of Autism Spectrum Condition. Diagnostics (Basel);2023 (Mar 1);13(5)

This theoretical paper addresses the issue of epistemic injustice with particular reference to autism. Injustice is epistemic when harm is performed without adequate reason and is caused by or related to access to knowledge production and processing, e.g., concerning racial or ethnic minorities or patients. The paper argues that both mental health service users and providers can be subject to epistemic injustice. Cognitive diagnostic errors often appear when complex decisions are made in a limited timeframe. In those situations, the socially dominant ways of thinking about mental disorders and half-automated and operationalized diagnostic paradigms imprint on experts’ decision-making processes. Recently, analyses have focused on how power operates in the service user-provider relationship. It was observed that cognitive injustice inflicts on patients through the lack of consideration of their first-person perspectives, denial of epistemic authority, and even epistemic subject status, among others. This paper shifts focus toward health professionals as rarely considered objects of epistemic injustice. Epistemic injustice affects mental health providers by harming their access to and use of knowledge in their professional activities, thus affecting the reliability of their diagnostic assessments.

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