Pubmed du 31/05/23
1. Barone R, Colombi C. Editorial: Women in psychiatry 2022: autism. Frontiers in psychiatry. 2023; 14: 1208163.
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2. Carbonell AU, Freire-Cobo C, Deyneko IV, Dobariya S, Erdjument-Bromage H, Clipperton-Allen AE, Page DT, Neubert TA, Jordan BA. Comparing synaptic proteomes across five mouse models for autism reveals converging molecular similarities including deficits in oxidative phosphorylation and Rho GTPase signaling. Frontiers in aging neuroscience. 2023; 15: 1152562.
Specific and effective treatments for autism spectrum disorder (ASD) are lacking due to a poor understanding of disease mechanisms. Here we test the idea that similarities between diverse ASD mouse models are caused by deficits in common molecular pathways at neuronal synapses. To do this, we leverage the availability of multiple genetic models of ASD that exhibit shared synaptic and behavioral deficits and use quantitative mass spectrometry with isobaric tandem mass tagging (TMT) to compare their hippocampal synaptic proteomes. Comparative analyses of mouse models for Fragile X syndrome (Fmr1 knockout), cortical dysplasia focal epilepsy syndrome (Cntnap2 knockout), PTEN hamartoma tumor syndrome (Pten haploinsufficiency), ANKS1B syndrome (Anks1b haploinsufficiency), and idiopathic autism (BTBR+) revealed several common altered cellular and molecular pathways at the synapse, including changes in oxidative phosphorylation, and Rho family small GTPase signaling. Functional validation of one of these aberrant pathways, Rac1 signaling, confirms that the ANKS1B model displays altered Rac1 activity counter to that observed in other models, as predicted by the bioinformatic analyses. Overall similarity analyses reveal clusters of synaptic profiles, which may form the basis for molecular subtypes that explain genetic heterogeneity in ASD despite a common clinical diagnosis. Our results suggest that ASD-linked susceptibility genes ultimately converge on common signaling pathways regulating synaptic function and propose that these points of convergence are key to understanding the pathogenesis of this disorder.
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3. da Frota MA, Resegue RM, Colucci A, Micheletti C. Profile of children assisted in a teaching outpatient clinic of developmental disabilities in São Paulo, Brazil. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo. 2023; 41: e2022005.
OBJECTIVE: To analyze the epidemiological and clinical profile of patients with developmental disabilities followed in a university clinic in Brazil. METHODS: Descriptive, retrospective study, based on medical records. Children aged zero to 18 years with developmental problems, firstly evaluated between 2009 and 2018, were included. Patients with missing data or out of the age and time period established were excluded. There were nine losses and 374 patients constituted the final sample. Linear regression models were performed. RESULTS: The mean age at the first assessment was 52.2±39.7 months and the age when the parents perceived the symptoms was 20.9±23.8 months. The most common impairment was motor associated with language delay (28.3%). The interval between the parents’ perception and the first consultation was associated with the mothers’ education and number of pregnancies. The age at first assessment was associated with the disability type. The number of pregnancies was associated with the child’s age when the parents noticed the symptoms and at the first consultation. CONCLUSIONS: Parents’ recognition of the symptoms occurred early, however, there was a delay until the arrival at the clinic. Higher maternal education was associated with a shorter gap between perception of the developmental disability and consultation. A greater number of pregnancies was associated with a later perception of the developmental delay by the parents as well as a delay in the assessment and a wider interval between them. Motor problems were the most common in younger children, and language complaints in older ones.
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4. Dimachkie Nunnally A, Factor RS, Sturm A, Valluripalli Soorya L, Wainer A, Taylor S, Ponzini M, Abbeduto L, Gulsrud AC. Examining indicators of psychosocial risk and resilience in parents of autistic children. Frontiers in behavioral neuroscience. 2023; 17: 1102516.
BACKGROUND: Parents of autistic children experience increased levels of caregiver strain and adverse mental health outcomes, even in comparison to parents of children with other neurodevelopmental disabilities. Previous studies have largely attributed these increased levels of mental health concerns to their child behavioral concerns and autism symptomatology, but less attention has been given to other potential child factors, such as child adaptive functioning. Additionally, little is known about potential protective factors, such as parents’ emotion regulation (ER) abilities, that may ameliorate the experience of caregiver strain, anxiety, and depression. OBJECTIVE: The current study examined the impact of child characteristics (restricted and repetitive behaviors, adaptive functioning and behavioral concerns) on parent mental health outcomes (caregiver strain, anxiety, depression and wellbeing). Additionally, we explore parents’ ER abilities as a moderator of the impact of child characteristic on parents’ mental health outcomes. RESULTS: Results of linear mixed effect models indicated a significant relationship between parents’ ER abilities and all four parent outcomes. Additionally, children’s adaptive functioning abilities and repetitive behaviors (RRBs) were significant predictors of caregiving strain. Parents’ ER abilities were a significant moderator of the effect of children’s repetitive behaviors and adaptive functioning challenges on caregiver strain, such that better ER abilities mitigated the impact of child clinical factors on caregiver strain. Finally, a significant difference was detected for mothers’ and fathers’ mental health, with mothers reporting higher caregiver strain, and more symptoms of anxiety and depression than did fathers. CONCLUSION: This study leveraged a large sample of autistic children and their biological parents to examine the relationship between children’s clinical characteristics and parents’ psychological wellbeing. Results indicate that, although parents of autistic children do experience high rates of internalizing mental health concerns that relate to child adaptive functioning and RRBs, parent ER abilities act as a protective factor against parents’ adverse mental health outcomes. Further, mothers in our sample reported significantly higher rates of depression, anxiety, and caregiver strain, as compared with fathers.
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5. McLay L, Emerson LM, Waddington H, van Deurs J, Hunter J, Blampied N, Hapuku A, Macfarlane S, Bowden N, van Noorden L, Rispoli M. Telehealth-delivered naturalistic developmental behavioural intervention with and without caregiver acceptance and commitment therapy for autistic children and their caregivers: protocol for a multi-arm parallel group randomised clinical trial. BMJ open. 2023; 13(5): e071235.
INTRODUCTION: Timely access to early support that optimises autistic children’s development and their caregiver’s mental health is critical. Naturalistic developmental behavioural interventions (NDBIs) and acceptance and commitment therapy (ACT) are evidence-based supports that can enhance child learning and behaviour, and adult well-being, respectively. The traditional face-to-face delivery of these approaches is resource intensive. Further, little is known about the benefit of parallel child-focused and caregiver-focused supports. The aims of this trial are to evaluate the effectiveness and social validity of telehealth-delivered, caregiver-implemented, child-focused NDBI and caregiver-focused ACT when delivered alone and in parallel, on autistic children’s social communication and caregiver well-being. METHODS AND ANALYSIS: The study will use a randomised, single-blind clinical trial with three parallel arms: NDBI; ACT and ACT+NDBI. We will recruit a minimum of 78, 2-5-year-old autistic children and their families throughout Aotearoa New Zealand. Support will be delivered over 13 weeks using a combination of culturally enhanced web-based modules and online group coaching. Primary outcome variables include children’s social communication/engagement with their caregiver as well as caregiver stress and will be evaluated using a repeated measures multivariate analysis of variance. Outcome variables are assessed at baseline (before randomisation), immediately postparticipation and at 3-month follow-up. ETHICS AND DISSEMINATION: The trial is approved by the Health and Disability Ethics Committee (2022 FULL 12058). The findings of this trial will be disseminated through peer-reviewed journals and national and international conference proceedings regardless of the magnitude/direction of effect. Additionally, data will be shared with stakeholder groups, service providers and health professionals. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry (ACTRN12622001134718).
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6. Murphy GH, Sinclair N, Melvin C, Langdon PE. Group CBT for men with intellectual disabilities and/or autism who have harmful sexual behaviour. The British journal of clinical psychology. 2023.
OBJECTIVES: Men with intellectual disabilities and/or autism sometimes engage in harmful sexual behaviour (HSB), but it may be harder for them to access treatment, than it is for non-disabled men. The aim of this study was to evaluate the effect of attending an adapted CBT group, known as SOTSEC-ID, on men with intellectual disabilities and/or autism who had HSB. METHOD: Ninety-eight men from intellectual disability services, who had ID and/or autism and a history of HSB were recruited, and they received group CBT for a year (46 of these men have been previously reported). Harmful sexual behaviour, sexual knowledge, distorted cognitions and victim empathy were measured before and after treatment, and at 6 month follow-up. RESULTS: There were low levels of further harmful sexual behaviour: 12% of men engaged in further HSB during the 1-year period of the group, and 8% engaged in further HSB in the 6-month follow-up period. There were also significant improvements in sexual knowledge, distorted cognitions and victim empathy following treatment, maintained at 6-month follow-up. Men with autism showed significantly more non-contact HSB, were less likely to have been interviewed by police and had higher rates of further HSB, compared to men without autism. CONCLUSIONS: It is concluded that SOTSEC-ID is a promising treatment for men with ID/autism and HSB. Nevertheless, the study had a number of limitations and lacked a control group, so there is now an urgent need for a proper controlled study.
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7. Scahill L, Sharp WG, Gillespie S, Pickard K, Brasher S, Buckley D, Scahill L. A Survey of Community Providers on Feeding Problems in Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023.
PURPOSE: Feeding problems, ranging from mild to severe, are common in children with autism spectrum disorder. We conducted a 15-item online survey of community providers to gather information on service demand and current treatment approaches for this clinical population. METHODS: Respondents, speech-language pathologists, occupational therapists, registered dietitians, and Board-Certified Behavior Analysts, were recruited via e-mail listservs, professional conferences, continuing education programs, social media and electronic newsletters. The survey included questions about professional discipline, years in practice, patient population served, feeding problem types, therapeutic approaches, and level of interest in parent-mediated interventions. RESULTS: A total of 541 community practitioners responded to the survey; 419 provided usable data. Across all providers, 97% (n = 406) reported seeing children with ASD and feeding problems. Of these, 90% (n = 367) offered treatment. Providers (n = 23) who did not treat feeding problems cited « insufficient training. » Most common presenting problems included limited dietary variety, texture sensitivity, and disruptive mealtime behavior. Although treatment approaches varied across disciplines, 89.3% indicated openness to parent-mediated treatment. CONCLUSIONS: These results indicate a high demand for treatment of children with ASD and feeding problems across disciplines. Food selectivity was the most common problem. Treatment approaches varied across disciplines. Dissemination and implementation of evidence-based, parent-mediated intervention is warranted.
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8. Sierakowska A, Roszak M, Lipińska M, Bieniasiewicz A, Łabuz-Roszak B. AUTISM SPECTRUM DISORDER AND SCHIZOPHRENIA – SIMILARITIES BETWEEN THE TWO DISORDERS WITH A CASE REPORT OF A PATIENT WITH DUAL DIAGNOSIS. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego. 2023; 51(2): 172-7.
This paper presents the genetic, molecular and neuroanatomical similarities between autism spectrum disorder (ASD) and schizophrenia using the case report of a 34-year-old female patient with a previous diagnosis of schizophrenia as an example. As a result of repeat hospitalization, expanded history, psychological testing and verification of persistent symptoms of psychopathology, a cooccurring diagnosis of autism spectrum disorder was made.
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9. Taveira M, Correia DS, Coelho J, Miranda CT. Autism spectrum disorders: students’ view of medicine and nursing courses at a public university. Ciencia & saude coletiva. 2023; 28(6): 1853-62.
The term stigma comes from Greek, being related to the identification of people through a physical mark, which can generate marginalization. The literature points out four types of stigmas: public, institutional, self-esteem, and courtesy. People with Autistic Spectrum Disorders are stigmatized in various cultures and societies. This study describes the view on stigma regarding Autistic Spectrum Disorder among undergraduate medical and nursing students. This is a cross-sectional study of a qualitative approach, whose data were collected through two focus groups, one with medical and another with nursing students, from a public university in Alagoas, Brazil. A script with eight questions for discussion in the focus groups was used. The speeches were recorded, transcribed, and analyzed with the IRAMUTEQ software, based on content analysis. The Descending Hierarchical Classification showed five categories related to the disorder, which were: 1 – Approach to the person with the disorder; 2 – Experience of Stigma; 3 – Segregation of People with Disorders; 4 – Care of the Person with the Disorder and Class; 5 – Challenges faced by the people affected.
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10. Wu X, Deng H, Jian S, Chen H, Li Q, Gong R, Wu J. Global trends and hotspots in the digital therapeutics of autism spectrum disorders: a bibliometric analysis from 2002 to 2022. Frontiers in psychiatry. 2023; 14: 1126404.
INTRODUCTION: Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder that has become a major cause of disability in children. Digital therapeutics (DTx) delivers evidence-based therapeutic interventions to patients that are driven by software to prevent, manage, or treat a medical disorder or disease. This study objectively analyzed the current research status of global DTx in ASD from 2002 to 2022, aiming to explore the current global research status and trends in the field. METHODS: The Web of Science database was searched for articles about DTx in ASD from January 2002 to October 2022. CiteSpace was used to analyze the co-occurrence of keywords in literature, partnerships between authors, institutions, and countries, the sudden occurrence of keywords, clustering of keywords over time, and analysis of references, cited authors, and cited journals. RESULTS: A total of 509 articles were included. The most productive country and institution were the United States and Vanderbilt University. The largest contributing authors were Warren, Zachary, and Sarkar, Nilanjan. The most-cited journal was the Journal of Autism and Developmental Disorders. The most-cited and co-cited articles were Brian Scarselati (Robots for Use in Autism Research, 2012) and Ralph Adolphs (Abnormal processing of social information from faces in autism, 2001). « Artificial Intelligence, » « machine learning, » « Virtual Reality, » and « eye tracking » were common new and cutting-edge trends in research on DTx in ASD. DISCUSSION: The use of DTx in ASD is developing rapidly and gaining the attention of researchers worldwide. The publications in this field have increased year by year, mainly concentrated in the developed countries, especially in the United States. Both Vanderbilt University and Yale University are very important institutions in the field. The researcher from Vanderbilt University, Warren and Zachary, his dynamics or achievements in the field is also more worth our attention. The application of new technologies such as virtual reality, machine learning, and eye-tracking in this field has driven the development of DTx on ASD and is currently a popular research topic. More cross-regional and cross-disciplinary collaborations are recommended to advance the development and availability of DTx.
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11. Zhou R, Xie X, Wang J, Ma B, Hao X. Why do children with autism spectrum disorder have abnormal visual perception?. Frontiers in psychiatry. 2023; 14: 1087122.
Autism spectrum disorder (ASD) is associated with severe impairment in social functioning. Visual information processing provides nonverbal cues that support social interactions. ASD children exhibit abnormalities in visual orientation, continuous visual exploration, and visual-spatial perception, causing social dysfunction, and mechanisms underlying these abnormalities remain unclear. Transmission of visual information depends on the retina-lateral geniculate nucleus-visual cortex pathway. In ASD, developmental abnormalities occur in rapid expansion of the visual cortex surface area with constant thickness during early life, causing abnormal transmission of the peak of the visual evoked potential (P100). We hypothesized that abnormal visual perception in ASD are related to the abnormal visual information transmission and abnormal development of visual cortex in early life, what’s more, explored the mechanisms of abnormal visual symptoms to provide suggestions for future research.