Pubmed du 09/11/24
1. Durbagula S, Parambath SV, Siddappa Niranjana Murthy A, Rameshraju KM, Ghati Kasturirangan C, Udupi GA, Ramachandra NB, Huligerepura Sosalegowda A, Raman V, Korlimarla A, Gowda NKC. Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing. Gen Psychiatr. 2024; 37(6): e101606.
Lien vers le texte intégral (Open Access ou abonnement)
2. Eliopulos E, de la Roche L, Chen YJ, McPhee P, Kata A, Duku E, Roncadin C, Hoult L, Singal D, Georgiades S. Brief Report: Positive Caregiver Perceptions on Receiving Research Summary Reports in Autism Longitudinal Research. J Autism Dev Disord. 2024.
PURPOSE: Although participating in research is often presented as something that can ‘help others in the future’, research participants may also benefit from accessing and understanding their own research data. However, participant attitudes toward receiving individual data via research reports are under researched. This study examined participant perceptions of research reports within the context of the pilot phase of the Pediatric Autism Research Cohort (PARC) Study. PARC Study participants included caregivers of children with a recent diagnosis of autism, completing questionnaires on their child’s symptoms and behaviours at six-month intervals for two years. Following completion of each timepoint, participants received a research summary report with information on their own child’s developmental progress. Participants were invited to give feedback on their use of the reports after the pilot study. METHODS: An online questionnaire developed by the PARC Study research team to assess the use of PARC Study research summary reports was emailed to participants who received a report. Responses to the questionnaire (n = 39) were evaluated using descriptive analyses. RESULTS: Most participants reported that the reports improved their knowledge of autism and management/awareness of their child’s needs. Reports were shared with professionals, leading to opportunities for dialogue and shared decision-making around intervention, social, and educational goals. Overall, participants expressed a preference for receiving such reports. CONCLUSIONS: This work demonstrates positive perceptions and experiences with using research summary reports among participants in autism research. The provision of feedback/summary reports can enrich participant knowledge and serve as a resource to open dialogue with professionals.
Lien vers le texte intégral (Open Access ou abonnement)
3. Erdoğan MA, Tunç KC, Daştan A, Tomruk C, Uyanıkgil Y, Erbaş O. Therapeutic effects of pentoxifylline in propionic acid-induced autism symptoms in rat models: A behavioral, biochemical, and histopathological study. Int J Dev Neurosci. 2024.
OBJECTIVE: The role of propionic acid (PPA) in eliciting behaviors analogous to autism in rat models is a documented phenomenon. This study examines the therapeutic implications of pentoxifylline-an agent traditionally used for peripheral vascular diseases-on these autism-like behaviors by modulating brain proteins and reducing pro-inflammatory cytokines like tumor necrosis factor-α (TNF-α) in a rat model. METHODS: This research involved 30 male Wistar albino rats, which were divided into three distinct groups: a baseline control set, a PPA-treated cluster receiving a 250 mg/kg/day dose of PPA via intraperitoneal injection for a span of five days followed by saline orally, and a PPA group administered an oral dose of pentoxifylline at 300 mg/kg/day over 15 days. Subsequent to the treatment phase, euthanasia was carried out for the extraction of brain and blood samples, which were then analyzed for histopathological and biochemical markers. RESULTS: The pentoxifylline-treated subjects demonstrated a significant mitigation in the manifestation of autistic-like behaviors, as assessed through a triad of social interaction tests. A noteworthy decline in TNF-α levels was observed, alongside a significant rise in the concentration of adenosine triphosphate and nerve growth factor in brain tissue (p < 0.05). Histopathological analysis underscored a reduction in oxidative stress and a significant preservation of neuronal cell types, specifically pyramidal neurons in the hippocampal CA1 and CA3 regions and Purkinje cells in the cerebellum (p < 0.001). CONCLUSION: Pentoxifylline treatment has been found to effectively reduce the behavioral symptoms associated with autism, as well as biochemical and histopathological disruptions induced by PPA in rat models, highlighting its potential as a neurotherapeutic agent.
Lien vers le texte intégral (Open Access ou abonnement)
4. Harstad E, Golden M, Sideridis G, Brewster SJ, Barbaresi W. Developmental and Psychiatric Conditions Among 5-7 Year Old Children with Non-persistent and Persistent Autism. J Autism Dev Disord. 2024.
To describe the types and frequency of developmental and psychiatric conditions (DPCs) in early school-age children who were diagnosed with ASD as toddlers and to compare rates of DPCs in children whose ASD persists (« persistent ASD ») versus those in whom it does not (« non-persistent ASD »). Children with a clinical ASD diagnosis at 12-36 months old underwent a research assessment at 5-7 years old. Research assessments included measures of ASD symptoms and cognitive and adaptive functioning. A research psychologist assigned an ASD diagnosis (yes or no) based on the child’s current functioning. Information about DPCs was obtained from parent and/or research psychologist report. Intellectual disability was defined as cognitive standard score < 70. Of the 213 children diagnosed with ASD at initial clinical assessment, at the research assessment 134 (62.6%) had persistent ASD and 79 (37%) had non-persistent ASD. Overall, the most common DPCs were ADHD (n = 58; 27.2%); speech disorder (n = 46; 21.6%); and intellectual disability (n = 46; 21.6%). Of children with non-persistent ASD, 29.1% had ≥ 1 DPC, and 19% had ADHD. Children with persistent ASD were over 5 times more likely (OR = 5.72) to have an additional DPC, compared to those with non-persistent ASD. Children with non-persistent ASD may manifest several different DPCs, with an increased rate of ADHD compared to population norms. Children with persistent ASD have higher rates of DPCs than those with non-persistent ASD. Follow-up care for children diagnosed with ASD at a young age should include assessment for other DPCs.
Lien vers le texte intégral (Open Access ou abonnement)
5. Jiang W, Shi H, Gu T, Cai Z, Li Q. Prediction of Postoperative Mechanical Complications in ASD Patients Based on Total Sequence and Proportional Score of Spinal Sagittal Plane. SLAS Technol. 2024: 100222.
This article aimed to predict the occurrence of postoperative mechanical complications in adult spinal deformity (ASD) patients through the total sequence and proportional score of the spinal sagittal plane, to improve the quality of life of patients after surgery. The study adopted a comprehensive evaluation and data analysis method, including data collection and preprocessing, feature selection, model construction and training, and constructed a prediction model based on the Random Forest (RF) algorithm. The experimental results showed that the model significantly reduced the risk of complications in randomized controlled trials. The incidence of mechanical complications in the experimental group was 10%, while that in the control group was 25%, with statistical significance (P<0.05). In addition, in retrospective data analysis, the accuracy of the article's model on five datasets ranged from 89% to 93%, outperforming logistic regression and support vector machine models, and performing well on other performance data. In prospective studies, the model's predictions showed good consistency with the actual occurrence of complications. Sensitivity analysis shows that the model has low sensitivity to changes in key parameters and exhibits stability, indicating that the model proposed in this article is suitable for uncertain medical environments. The expert rating further confirmed the effectiveness and practicality of the model in predicting postoperative mechanical complications in ASD patients, with the highest score reaching 4.9. These data demonstrate the high accuracy and clinical potential of the model in predicting postoperative complications of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
6. Santinele Martino A, Moumos E, Ulicki N, Robbins M. The Experiences of 2SLGBTQ+ Adults Labeled with Intellectual and/or Developmental Disabilities When Navigating Mainstream Queer Social Spaces. J Homosex. 2024; 71(13): 3078-97.
Drawing on interviews with 31 2SLGBTQ+ people labeled with developmental and/or intellectual disabilities, this exploratory study focuses on participants’ experiences navigating mainstream queer social spaces. The current study is an explorative qualitative view at the intersection of the 2SLGBTQ+ and disability community. There is a call for more inclusive spaces for people with disabilities within queer social areas. Although queer spaces attempt to be free and inclusive, many have inaccessible activities and locations. The findings depict that individuals with lived experiences are not often represented in the 2SLGBTQ+ community due to a lack of inclusion. Participants highlighted feelings of rejection as people with disabilities were not represented in many 2SLGBTQ+ focused groups or organizations. The current paper calls attention to creating more inclusive intersectional spaces to promote inclusivity and ensure people with disabilities have the opportunity to contribute through an active role in the 2SLGBTQ+ community.
