Pubmed du 13/10/23

Pubmed du jour

1. Ahlers K, Hugh ML, Tagavi D, Eayrs C, Hernandez AM, Ho T, Locke J. « On an island by myself »: implications for the inclusion of autistic students in self-contained classrooms in public elementary schools. Frontiers in psychiatry. 2023; 14: 1241892.

INTRODUCTION: Autistic students have limited access to inclusive classes and activities in their schools. Principals and special education teachers who directly teach and administer programs for autistic elementary students can offer critical insight into factors, such as educators’ attitudes, that may impact inclusive opportunities in schools. These attitudes may serve as barriers to or facilitators of promoting an inclusive school setting. METHODS: Semi-structured interviews with 26 elementary school principals and 26 special education teachers explored their experiences implementing evidence-based practices for autistic students (pivotal response training, discrete trial training, and visual schedules) in 26 self-contained classrooms in the United States. Autism-specific culture and inclusion emerged as a theme, which was analyzed for this paper. RESULTS: An inductive approach to thematic analysis revealed principals’ and special education teachers’ perspectives regarding the « autism-specific culture » in the school, including attitudes towards and inclusion of autistic students in self-contained classrooms in the broader school environment. Analysis of text related to « autism-specific culture » detailed aspects of inclusion, factors (i.e., barriers and facilitators) affecting inclusion, principals’ and special education teachers’ attitudes towards autistic students placed in self-contained classrooms, attitudes of other school staff towards teachers in self-contained classrooms, and recommendations to support an inclusive school environment for autistic students. DISCUSSION: Results suggest that valuing « equal » access to classes and activities for autistic students in self-contained classrooms may not be sufficient for promoting an inclusive school environment, Educators may benefit from targeted strategies to facilitate inclusion. Strategies range from supporting educators’ attitudes and knowledge of autism to shifting physical aspects of the school environment (e.g., location of classrooms). Additional implications for supporting the true inclusion (i.e., inclusion that goes beyond physical inclusion) involves of autistic students in self-contained classrooms schools are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

2. Alvarez-Mora MI, Garrabou G, Molina-Porcel L, Grillo-Risco R, Garcia-Garcia F, Barcos T, Cantó-Santos J, Rodriguez-Revenga L. Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research. Cells. 2023; 12(19).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in adult FMR1 premutation carriers. The neuropathological hallmark of FXTAS is an intranuclear inclusion in neurons and astrocytes. Nearly 200 different proteins have been identified in FXTAS inclusions, being the small ubiquitin-related modifier 2 (SUMO2), ubiquitin and p62 the most highly abundant. These proteins are components of the protein degradation machinery. This study aimed to characterize SUMO2/3 expression levels and autophagy process in human postmortem brain samples and skin fibroblast cultures from FXTAS patients. Results revealed that FXTAS postmortem brain samples are positive for SUMO2/3 conjugates and supported the idea that SUMO2/3 accumulation is involved in inclusion formation. Insights from RNA-sequencing data indicated that SUMOylation processes are significantly upregulated in FXTAS samples. In addition, the analysis of the autophagy flux showed the accumulation of p62 protein levels and autophagosomes in skin fibroblasts from FXTAS patients. Similarly, gene set analysis evidenced a significant downregulation in gene ontology terms related to autophagy in FXTAS samples. Overall, this study provides new evidence supporting the role of SUMOylation and autophagic processes in the pathogenic mechanisms underlying FXTAS.

Lien vers le texte intégral (Open Access ou abonnement)

3. And Applications BC. Retracted: The Application of Natural Camel Milk Products to Treat Autism-Spectrum Disorders: Risk Assessment and Meta-Analysis of Randomized Clinical Trials. Bioinorganic chemistry and applications. 2023; 2023: 9807391.

[This retracts the article DOI: 10.1155/2022/6422208.].

Lien vers le texte intégral (Open Access ou abonnement)

4. Chen Y, Chen G, Liu Y, Dong GH, Yang BY, Li S, Huang H, Jin Z, Guo Y. Exposure to greenness during pregnancy and the first three years after birth and autism spectrum disorder: A matched case-control study in shanghai, China. Environmental pollution (Barking, Essex : 1987). 2023: 122677.

Causes of autism spectrum disorder (ASD) have not been fully understood. Previous studies have linked environmental factors with ASD. However, evidence for the greenness-ASD association is limited, especially in China. To fill this gap, we conducted a matched case-control study to examine the association between greenness and ASD in China. Participants in this study were 84,934 children aged 3-12 years in Shanghai, China, selected using a multi-stage cluster sampling method. ASD cases were firstly screened by questionnaires completed by both children’s parents and teachers, and were then confirmed by clinical examinations. Further, 10 healthy controls were randomly selected to match each ASD case by age and sex. The final analyses included 146 ASD cases and 1460 healthy controls. Participants’ exposure to greenness before and after birth was assessed by normalized difference vegetation index (NDVI) and enhanced vegetation index (EVI) from NASA’s Earth Observing System according to their residential locations. We used conditional logistic regression to examine the ASD-greenness association. Per interquartile range (IQR) increase in EVI(500m) and NDVI(500m) during the year before birth were associated with lower risks of ASD with adjusted odds ratios (ORs) and 95% confidence intervals (CIs) of 0.96 (95%CI: 0.946, 0.975, IQR = 0.074) and 0.937 (95%CI: 0.915, 0.959, IQR = 0.101). Exposure to greenness during the first 3 years after birth was also significantly associated with lower risk of ASD [IQR ORs for EVI(500m) and NDVI(500m) were 0.935 (95%CI: 0.91, 0.962, IQR = 0.06) and 0.897 (95%CI: 0.861, 0.935, IQR = 0.09), respectively]. Mediation analyses indicated that greenness has beneficial effects on ASD children by absorbing air pollutants. Greenness was observed to have stronger beneficial effects on children without historical diseases and term birth. More greenness exposure before and after birth were significantly associated with lower risks of ASD in children. Our results highlight the importance of greenness in urban planning.

Lien vers le texte intégral (Open Access ou abonnement)

5. DiPiero M, Cordash H, Prigge MB, King CK, Morgan J, Guerrero-Gonzalez J, Adluru N, King JB, Lange N, Bigler ED, Zielinski BA, Alexander AL, Lainhart JE, Dean DC, 3rd. Tract- and gray matter- based spatial statistics show white matter and gray matter microstructural differences in autistic males. Frontiers in neuroscience. 2023; 17: 1231719.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition commonly studied in the context of early childhood. As ASD is a life-long condition, understanding the characteristics of brain microstructure from adolescence into adulthood and associations to clinical features is critical for improving outcomes across the lifespan. In the current work, we utilized Tract Based Spatial Statistics (TBSS) and Gray Matter Based Spatial Statistics (GBSS) to examine the white matter (WM) and gray matter (GM) microstructure in neurotypical (NT) and autistic males. METHODS: Multi-shell diffusion MRI was acquired from 78 autistic and 81 NT males (12-to-46-years) and fit to the DTI and NODDI diffusion models. TBSS and GBSS were performed to analyze WM and GM microstructure, respectively. General linear models were used to investigate group and age-related group differences. Within the ASD group, relationships between WM and GM microstructure and measures of autistic symptoms were investigated. RESULTS: All dMRI measures were significantly associated with age across WM and GM. Significant group differences were observed across WM and GM. No significant age-by-group interactions were detected. Within the ASD group, positive relationships with WM microstructure were observed with ADOS-2 Calibrated Severity Scores. CONCLUSION: Using TBSS and GBSS our findings provide new insights into group differences of WM and GM microstructure in autistic males from adolescence into adulthood. Detection of microstructural differences across the lifespan as well as their relationship to the level of autistic symptoms will deepen to our understanding of brain-behavior relationships of ASD and may aid in the improvement of intervention options for autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

6. Farrell C, Slaughter V, McAuliffe T, Mulvihill A. Participation and Experiences in Extracurricular Activities for Autistic and Neurotypical Children. Journal of autism and developmental disorders. 2023.

Participation in Organised Extracurricular Social Activities (OESA) can provide positive outcomes for children. This study investigated whether children aged 4 to 12 years diagnosed with autism differ in their OESA participation and experience compared to neurotypical peers. Parents of autistic children (n = 35) and those of neurotypical peers (n = 171) responded to questions that asked them to reflect on their child’s participation and experiences in OESAs. Parents of autistic children reported significantly less OESA participation compared to parents of neurotypical children. Additionally, when evaluating factors that facilitated OESA participation, parents of autistic children rated their child’s individual abilities and behaviour, the OESA’s features, and the social environment less positively, compared to parents of neurotypical children. OESA participation and experiences differ for autistic and neurotypical children. This study identifies factors that can be adjusted to mitigate this difference.

Lien vers le texte intégral (Open Access ou abonnement)

7. Intelligence, Neuroscience C. Retracted: Classification and Detection of Autism Spectrum Disorder Based on Deep Learning Algorithms. Computational intelligence and neuroscience. 2023; 2023: 9893015.

[This retracts the article DOI: 10.1155/2022/8709145.].

Lien vers le texte intégral (Open Access ou abonnement)

8. International OT. Retracted: Behavioral Training of High-Functioning Autistic Children by Music Education of Occupational Therapy. Occupational therapy international. 2023; 2023: 9852579.

[This retracts the article DOI: 10.1155/2022/6040457.].

Lien vers le texte intégral (Open Access ou abonnement)

9. Jacinto M, Matos R, Gomes B, Caseiro A, Antunes R, Monteiro D, Ferreira JP, Campos MJ. Physical Fitness Variables, General Health, Dementia and Quality of Life in Individuals with Intellectual and Developmental Disabilities: A Cross-Sectional Study. Healthcare (Basel, Switzerland). 2023; 11(19).

The average life expectancy of individuals with intellectual and developmental disabilities (IDDs) is increasing. However, living more years does not mean living better, leading to the need for research on comorbidities associated with the aging process. Associated with this process are the physical characteristics most prevalent in an individual with IDD: low levels of all physical capacities, the accumulation of central fat, hyperglycemia, dyslipidemia, and hypertension, variables considered to be some of the main risk factors of the onset of metabolic and cardiovascular diseases, and variables that can negatively impact quality of life (QoL). Therefore, the aim of this study is to evaluate a sample of 21 institutionalized adults with IDD (42.81 ± 10.99 years old) in terms of their anthropometric characteristics, body composition, general health status, functional capacity, neuromuscular capacity, and dementia/cognitive function, and the possible associations with QoL. All assessments were performed in the laboratory of the Faculty of Sport Sciences and Physical Education-University of Coimbra. Participants, in the present study, have low levels of physical fitness and high metabolic and cardiovascular markets, which need to be improved. On the other hand, functional and neuromuscular ability seems to be associated with QoL (p ≤ 0.05). This study highlights the role of primary and secondary care providers in diagnosis, prevention, and supporting individuals with IDDs to promote QoL.

Lien vers le texte intégral (Open Access ou abonnement)

10. Jawed A, Graham H, Smith J. Digital trends in autism: a scoping review exploring coverage of autism across YouTube, Twitter, and Facebook. Frontiers in digital health. 2023; 5: 1222187.

Autism continues to be a leading neurodevelopmental disorder across adult and pediatric populations that transcends racial, ethnic, age, and socioeconomic groups worldwide. Autism care and treatment also exerts immense costs on the healthcare system and lost productivity which are partly attributed to the existing resource limitations globally. Organizations, campaigns, and policies exist worldwide in increasing equity and accessibility of resources and services to individuals with autism. In the context of our digital era, a wealth of information is also more readily available on autism through electronic communication including social media platforms. As YouTube, Twitter and Facebook are ever-growing and among the leading social media platforms in contemporary times, examination of content covered on autism across these communication mediums is timely and warranted. This review consolidates findings from 32 sources on the sources, formats, and nature of content covered on YouTube, Twitter, and Facebook pertaining to a wealth of dimensions surrounding autism. Strengths and limitations of the studies and endeavors are presented. Implications for future campaign development, health equity, health policy, neurodiversity, and patient care are also delineated. Lastly, recommendations for future research and practice are discussed which present directions for tapping into the potential of YouTube, Twitter, and Facebook as health communication mediums across the ever-changing autism landscape.

Lien vers le texte intégral (Open Access ou abonnement)

11. Jia H, Wu X, Zhang X, Guo M, Yang C, Wang E. Resting-state EEG Microstate Features Can Quantitatively Predict Autistic Traits in Typically Developing Individuals. Brain topography. 2023.

Autism spectrum disorder (ASD) is not a discrete disorder and that symptoms of ASD (i.e., so-called « autistic traits ») are found to varying degrees in the general population. Typically developing individuals with sub-clinical yet high-level autistic traits have similar abnormities both in behavioral performances and cortical activation patterns to individuals diagnosed with ASD. Thus it’s crucial to develop objective and efficient tools that could be used in the assessment of autistic traits. Here, we proposed a novel machine learning-based assessment of the autistic traits using EEG microstate features derived from a brief resting-state EEG recording. The results showed that: (1) through the Least Absolute Shrinkage and Selection Operator (LASSO) algorithm and correlation analysis, the mean duration of microstate class D, the occurrence rate of microstate class A, the time coverage of microstate class D and the transition rate from microstate class B to D were selected to be crucial microstate features which could be used in autistic traits prediction; (2) in the support vector regression (SVR) model, which was constructed to predict the participants’ autistic trait scores using these four microstate features, the out-of-sample predicted autistic trait scores showed a significant and good match with the self-reported scores. These results suggest that the resting-state EEG microstate analysis technique can be used to predict autistic trait to some extent.

Lien vers le texte intégral (Open Access ou abonnement)

12. Jiang M, Chen G. Investigation of LncRNA PVT1 and MiR-21-5p Expression as Promising Novel Biomarkers for Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2023.

The characteristics of ncRNA in children with autism spectrum disorder (ASD) were observed to disclose a theoretical basis for further research on molecular markers for early warning of ASD. Children with ASD and normal control children were recruited to collect peripheral blood RNA samples. The concentration of PVT1 and miR-21-5p was quantitatively analyzed by qRT-PCR. Pearson correlation coefficient method was used to evaluate the link between PVT1 level and miR-21-5p level of the children. Receiver operating characteristic (ROC) curves were applied to reckon the predictive value of PVT1, miR-21-5p, and their combination in ASD. The interconnection of PVT1 with miR-21-5p was represented by luciferase reporter assay. The targeted genes of miR-21-5p were predicted. The enrichment and protein interaction analysis of these genes was carried out to find the important core genes and analyze their value in ASD. In the disease group, the level of PVT1 was downregulated, while the content of miR-21-5p was upregulated. The expression level of serum miR-21-5p was negatively correlated with the level of PVT1. Luciferase reporter gene assay documented that PVT1 directly targeted miR-21-5p. ROC curve showed that PVT1, miR-21-5p, and their combination showed clinical value for disease diagnosis. The functional enrichment analysis showed that the targets of miR-21-5p participated in ASD by regulating related functions and pathways. Reduced expression of PVT1 and raised miR-21-5p were good diagnostic markers for ASD, which would provide a basis for effective prevention, early diagnosis, and early intervention of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

13. Li Q, Li Y, Zheng J, Yan X, Huang J, Xu Y, Zeng X, Shen T, Xing X, Chen Q, Yang W. Prevalence and trends of developmental disabilities among US children and adolescents aged 3 to 17 years, 2018-2021. Scientific reports. 2023; 13(1): 17254.

Developmental disabilities prevalence seem to be high in countries around the world. It’s worth understanding the most recent prevalence and trends of developmental disabilities. The objective of this study is to examine the prevalence and trends of developmental disabilities of US children and adolescents. A total of 26,422 individuals aged 3-17 years were included. Annual data were examined from the National Health Interview Survey (2018-2021). Weighted prevalence for each of the selected developmental disabilities were calculated. The prevalence of any developmental disabilities in individuals was 16.65% (95% CI 16.03-17.26%), prevalence of attention deficit/hyperactivity disorder (ADHD), learning disability (LD), autism spectrum disorder (ASD), intellectual disability (ID), and other developmental delay were 9.57% (95% CI 9.09-10.06%), 7.45% (95% CI 7.00-7.89%), 2.94% (95% CI 2.67-3.21%), 1.72% (95% CI 1.51-1.93%), and 5.24% (95% CI 4.89-5.59%), respectively. Significant increases were observed for other developmental delay (4.02-6.05%) and co-occurring LD & ID (1.03-1.82%). Findings form this study highlight a high prevalence of any developmental disabilities, although no significant increase was observed. The prevalence of other developmental delay and co-occurring LD & ID were significantly increased. Further investigation is warranted to assess potentially modifiable risk factors and causes of developmental disabilities.

Lien vers le texte intégral (Open Access ou abonnement)

14. Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. Journal of neurodevelopmental disorders. 2023; 15(1): 33.

OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders. METHODS: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2. RESULTS: The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features. CONCLUSION: The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers.

Lien vers le texte intégral (Open Access ou abonnement)

15. Owen TM, Rodriguez NM. Toward establishing a qualifying autoclitic repertoire in children with autism spectrum disorder. Journal of applied behavior analysis. 2023.

Autoclitics are secondary verbal operants that are controlled by a feature of the conditions that occasion or evoke a primary verbal operant such as a tact or mand. Qualifying autoclitics extend, negate, or assert a speaker’s primary verbal response and modify the intensity or direction of the listener’s behavior. Howard and Rice (1988) established autoclitics that indicated weak stimulus control (e.g., « like a [primary tact] ») with four neurotypical preschool children. However, generalization to newly acquired tacts was limited. In Experiment 1, we addressed similar behavior as in Howard and Rice but with autistic children while using simultaneous teaching procedures, and we observed generalization across sets and with newly acquired tacts. In Experiment 2, we evaluated the effects of multiple-exemplar training on generalization of autoclitics across sets of naturalistic stimuli. Across participants, gradual increases in the frequency of autoclitics occurred with untaught stimuli after teaching with one or more sets.

Lien vers le texte intégral (Open Access ou abonnement)

16. Roy R, Leadbitter K, Shields G, Taylor C, Aldred C, Juneja M, Gulati S, Vajaratkar V, Davies L, Emsley R, Patel V, Divan G, Green J. A randomised controlled trial of clinical and cost-effectiveness of the PASS Plus intervention for young children with autism spectrum disorder in New Delhi, India: study protocol for the COMPASS trial. Trials. 2023; 24(1): 667.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disability affecting at least 5 million children in South Asia. Majority of these children are without access to evidence-based care. The UK Pre-school Autism Communication Therapy (PACT) is the only intervention to have shown sustained impact on autism symptoms. It was systematically adapted for non-specialist community delivery in South Asia, as the ‘Parent-mediated Autism Social Communication Intervention for non-Specialists (PASS)’ and extended ‘PASS Plus’ interventions. RCTs of both showed feasibility, acceptability and positive effect on parent and child dyadic outcomes. METHODS: The Communication-centred Parent-mediated treatment for Autism Spectrum Disorder in South Asia (COMPASS) trial is now a scale-up two-centre, two-arm single (rater) blinded random allocation parallel group study of the PASS Plus intervention in addition to treatment as usual (TAU) compared to TAU alone, plus health economic evaluation embedded in the India health system. Two hundred forty children (approximately 120 intervention/120 TAU) with ASD aged 2-9 years will be recruited from two tertiary care government hospitals in New Delhi, India. Accredited Social Health Activists will be one of the intervention delivery agents. Families will undertake up to 12 communication sessions over 8 months and will be offered the Plus modules which address coexisting problems. The trial’s primary endpoint is at 9 months from randomisation, with follow-up at 15 months. The primary outcome is autism symptom severity; secondary outcomes include parent-child communication, child adaptation, quality of life and parental wellbeing. Primary analysis will follow intention-to-treat principles using linear mixed model regressions with group allocation and repeated measures as random effects. The cost-effectiveness analysis will use a societal perspective over the 15-month period of intervention and follow-up. DISCUSSION: If clinically and cost-effective, this programme will fill an important gap of scalable interventions delivered by non-specialist health workers within the current care pathways for autistic children and their families in low-resource contexts. The programme has been implemented through the COVID-19 pandemic when restrictions were in place; intervention delivery and evaluation processes have been adapted to address these conditions. TRIAL REGISTRATION: ISRCTN; ISRCTN21454676 ; Registered 22 June 2018.

Lien vers le texte intégral (Open Access ou abonnement)

17. Williamson HJ, Chico-Jarillo TM, Sasse S, Rennie L, Etcitty JR, Howe CL, Lee MS, Armin JS. A Scoping Review of Health Research with Racially/Ethnically Minoritized Adults with Intellectual and Developmental Disabilities. Developmental disabilities network journal. 2023; 3(2).

Living with intersectional identities, having a disability, and being a member of a racial or ethnic minoritized group in the U.S., contributes to marginalization that may result in health disparities and health inequities. The purpose of this scoping review is to describe health research regarding adult racial/ethnic minoritized individuals in the U.S with intellectual and developmental disabilities (I/DD). Eight electronic databases were searched to identify literature on the topic published since 2000. Of the 5,229 records, 35 articles were included in the review. Eligible studies included research conducted in the U.S., published in English, and research focused on adults with I/DD with race and/or ethnicity information. The 35 articles included racial/ethnic minoritized individuals who were Black, Latinx/Hispanic, American Indian, and Asian. Twenty-nine of the 35 articles identified health disparities experienced by adults with I/DD from racial/ethnic minoritized groups. Many health disparities were demonstrated in the articles, where adult racial/ethnic minoritized individuals with I/DD fared worse compared to White adults with I/DD. Additionally, four articles describe differences in health experiences by those from racial or ethnic minoritized backgrounds. Results of this scoping review highlight the need for research that incorporates intentional inclusion of racial/ethnic minoritized people with I/DD and include novel methodologies that allow for the contributions of historically marginalized voices. Future research with an intersectionality approach is recommended to promote equity.

Lien vers le texte intégral (Open Access ou abonnement)