1. Aragon-Guevara D, Castle G, Sheridan E, Vivanti G. The Reach and Accuracy of Information on Autism on TikTok. J Autism Dev Disord;2023 (Aug 6)

PURPOSE: Although social media platforms have made information about autism more accessible to the general public, concerns have been raised about the unfiltered nature of the content they host. In the current study, we examined the reach and accuracy of videos providing informational content about autism on TikTok, a popular social media platform. METHODS: We examined engagement indicators (including views and « likes ») for the TikTok videos associated with the #Autism hashtag. Two coders independently fact-checked informational content of the most viewed videos from the #Autism hashtag videos and coded it as either accurate, inaccurate or ‘overgeneralization’ based on the consistency of the information in the videos with current knowledge on autism. RESULTS: Videos associated with the « #Autism » hashtag accrued 11.5 billion views collectively. An examination of the top 133 videos providing informational content on autism, which totaled 198.7 million views and 25.2 million likes, showed that 27% of the videos were classified as accurate, while 41% were classified as inaccurate and 32% as overgeneralized. There were no significant differences in engagement between accurate and inaccurate/overgeneralized videos. Videos created by healthcare professionals were more likely to include accurate information. CONCLUSION: The informational content about autism made available on TikTok reaches a wide number of people. Most of the information provided, however, appears to be misaligned with current knowledge. It is important for healthcare providers and other professionals to be aware of the autism-related content being shared on TikTok so that they can better engage with the large community of TikTok users.

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2. Armitage RC. A primary care model to improve quality of life for older autistic people. Lancet Healthy Longev;2023 (Aug);4(8):e371.

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3. Ehtesham N, Mosallaei M, Beheshtian M, Khoshbakht S, Fadaee M, Vazehan R, Faraji Zonooz M, Karimzadeh P, Kahrizi K, Najmabadi H. Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability. Arch Iran Med;2022 (Dec 1);25(12):788-797.

BACKGROUND: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel-encoding genes: KCNJ10, KCNQ3, KCNK6, CACNA1C, CACNA1G, SCN8A, and GRIN2B. Moreover, the data of 340 previously fully reported ID and/or DD cases with a mutation in any of these seven genes were combined with our patients to clarify the genotype and phenotype spectrum in this group. RESULTS: In total, the most common phenotypes in 354 cases with ID/DD in whom mutation in any of these 7 channel-encoding genes was identified were as follows: ID (77.4%), seizure (69.8%), DD (59.8%), behavioral abnormality (29.9%), hypotonia (21.7%), speech disorder (21.5%), gait disturbance (20.9%), and ataxia (20.3%). Electroencephalography abnormality (33.9%) was the major brain imaging abnormality. CONCLUSION: The results of this study broaden the molecular spectrum of channel pathogenic variants associated with different clinical presentations in individuals with ID and/or DD.

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4. Fu B, Li S, Lao Z, Yuan B, Liang Y, He W, Sun W, He H. Multi-sensor and multi-platform retrieval of water chlorophyll a concentration in karst wetlands using transfer learning frameworks with ASD, UAV, and Planet CubeSate reflectance data. Sci Total Environ;2023 (Aug 4);901:165963.

China has one of the widest distributions of carbonate rocks in the world. Karst wetland is a special and important ecosystem of carbonate rock regions. Chlorophyll-a (Chla) concentration is a key indicator of eutrophication, and could quantitatively evaluate water quality status of karst wetland. However, the spectral reflectance characteristics of the water bodies of karst wetland are not yet clear, resulting in remote sensing retrieval of Chla with great challenges. This study is a pioneer in utilizing field-based full-spectrum hyperspectral data to reveal the spectral response characteristics of karst wetland water body and determine the sensitive spectral bands of Chla. We further evaluated the Chla retrieval performance of multi-platform spectral data between Analytical Spectral Device (ASD), Unmanned aerial vehicle (UAV), and PlanetScope (Planet). We proposed two multi-sensor weighted integration strategies and two transfer learning frameworks for estimating water Chla from the largest karst wetland in China by combing a partial least square with adaptive ensemble algorithms. The results showed that: (1) In the range of 500-850 nm, the spectral reflectance of water bodies in the karst wetland was overall 0.001-0.105 higher than the inland water bodies, and the sensitive spectral ranges of water Chla focus on 603-778 nm; (2) UAV images outperformed ASD and Planet data, and produced the highest inversion accuracy (R(2) = 0.670) for water Chla in karst wetland; (3) Multi-sensor weighted integration retrieval methods improved the Chla estimation accuracy (R(2) = 0.716). Integration retrieval methods with the different weights produced the better Chla estimation accuracy than that of methods with the equal weights; (4) The transfer learning methods from ASD to UAV platform provided the better retrieval performance (the average R(2) = 0.669) than that of methods from UAV to Planet platform. The transfer learning methods obtained the highest estimation accuracy of Chla (R(2) = 0.814) when the ratio of the training and test data in the target domain was 7:3. The transfer learning methods produced the higher estimation accuracies with the distribution of the absolute residuals between predicted and measured values <20.957 mg/m(3) compared to the multi-sensor weighted integration retrieval methods, which demonstrated that transfer learning is more suitable for estimating Chla in karst wetland water bodies using multi-platform and multi-sensor data. The results provide a scientific basis for the protection and sustainable development of karst wetlands.

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5. Gates JA, McNair ML, Richards JK, Lerner MD. Social Knowledge & Performance in Autism: A Critical Review & Recommendations. Clin Child Fam Psychol Rev;2023 (Aug 6)

Autistic social challenges have long been assumed to arise from a lack of social knowledge (« not knowing what to do »), which has undergirded theory and practice in assessment, treatment, and education. However, emerging evidence suggests these differences may be better accounted for by difficulties with social performance (« doing what they may know »). This distinction has important implications for research, practice, policy, and community support of autistic people. This review examines the theoretical and clinical implications and empirical status of the knowledge-performance distinction in autism. Current evidence suggests that social knowledge deficits are neither definitional nor reliably related to outcomes in autism. Prioritizing social knowledge, then, may produce unanticipated, problematic consequences in terms of accuracy of assessment, intervention effectiveness, and promotion of stigma. It may also yield unrealistic expectations around the value of knowledge for autistic people and their families, yielding important ethical considerations. Conversely, recent evidence highlights performance-related factors as being especially promising for better modeling and addressing social challenges in autism. Prioritizing performance, then, may offer new directions for assessment, substantially different intervention opportunities, and novel methods of inclusion and affirmation. This review touches upon each of these domains and implications, integrates these developments with broader models of social competence in youth, and provides direction for future research and practice regarding social competence in autism.

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6. Li Y, Ma L, Deng Y, Du Z, Guo B, Yue J, Liu X, Zhang Y. The Notch1/Hes1 signaling pathway affects autophagy by adjusting DNA methyltransferases expression in a valproic acid-induced autism spectrum disorder model. Neuropharmacology;2023 (Aug 4);239:109682.

As a pervasive neurodevelopmental disease, autism spectrum disorder (ASD) is caused by both hereditary and environmental elements. Research has demonstrated the functions of the Notch pathway and DNA methylation in the etiology of ASD. DNA methyltransferases DNMT3 and DNMT1 are responsible for methylation establishment and maintenance, respectively. In this study, we aimed to explore the association of DNA methyltransferases with the Notch pathway in ASD. Our results showed Notch1 and Hes1 were upregulated, while DNMT3A and DNMT3B were downregulated at the protein level in the prefrontal cortex (PFC), hippocampus (HC) and cerebellum (CB) of VPA-induced ASD rats compared with Control (Con) group. However, the protein levels of DNMT3A and DNMT3B were augmented after treatment with 3,5-difluorophenacetyl-L-alanyl-S-phenylglycine-2-butyl ester (DAPT), suggesting that abnormal Notch pathway activation may affect the expression of DNMT3A and DNMT3B. Besides, our previous findings revealed that the Notch pathway may participate in development of ASD by influencing autophagy. Therefore, we hypothesized the Notch pathway adjusts autophagy and contributes to ASD by affecting DNA methyltransferases. Our current results showed that after receiving the DNA methyltransferase inhibitor 5-Aza-2′-deoxycytidine (5-Aza-2’dc), the VPA + DAPT+5-Aza-2’dc (V + D + Aza) group exhibited reduced social interaction ability and increased stereotyped behaviors, and decreased expression of DNMT3A, DNMT3B and autophagy-related proteins, but did not show changes in Notch1 and Hes1 protein levels. Our results indicated that the Notch1/Hes1 pathway may adjust DNMT3A and DNMT3B expression and subsequently affect autophagy in the occurrence of ASD, providing new insight into the pathogenesis of ASD.

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7. Sheth F, Shah J, Jain D, Shah S, Patel H, Patel K, Solanki DI, Iyer AS, Menghani B, Mhatre P, Mehta S, Bajaj S, Patel V, Pandya M, Dhami D, Patel D, Sheth J, Sheth H. Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test. BMC Neurol;2023 (Aug 5);23(1):292.

BACKGROUND: Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the genetic architecture of ASD in India and to assess the use of whole exome sequencing (WES) as a first-tier test instead of chromosomal microarray (CMA) for genetic diagnosis. METHODS: Between 2020 and 2022, 101 patient-parent trios of Indian origin diagnosed with ASD according to the Diagnostic and Statistical Manual, 5th edition, were recruited. All probands underwent a sequential genetic testing pathway consisting of karyotyping, Fragile-X testing (in male probands only), CMA and WES. Candidate variant validation and parental segregation analysis was performed using orthogonal methods. RESULTS: Of 101 trios, no probands were identified with a gross chromosomal anomaly or Fragile-X. Three (2.9%) and 30 (29.7%) trios received a confirmed genetic diagnosis from CMA and WES, respectively. Amongst diagnosis from WES, SNVs were detected in 27 cases (90%) and CNVs in 3 cases (10%), including the 3 CNVs detected from CMA. Segregation analysis showed 66.6% (n = 3 for CNVs and n = 17 for SNVs) and 16.6% (n = 5) of the cases had de novo and recessive variants respectively, which is in concordance with the distribution of variant types and mode of inheritance observed in ASD patients of non-Hispanic white/ European ethnicity. MECP2 gene was the most recurrently mutated gene (n = 6; 20%) in the present cohort. Majority of the affected genes identified in the study cohort are involved in synaptic formation, transcription and its regulation, ubiquitination and chromatin remodeling. CONCLUSIONS: Our study suggests de novo variants as a major cause of ASD in the Indian population, with Rett syndrome as the most commonly detected disorder. Furthermore, we provide evidence of a significant difference in the diagnostic yield between CMA (3%) and WES (30%) which supports the implementation of WES as a first-tier test for genetic diagnosis of ASD in India.

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8. Valenti D, Vacca RA. Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes. Int J Mol Sci;2023 (Aug 6);24(15)

Mitochondria, far beyond their prominent role as cellular powerhouses, are complex cellular organelles active as central metabolic hubs that are capable of integrating and controlling several signaling pathways essential for neurological processes, including neurogenesis and neuroplasticity. On the other hand, mitochondria are themselves regulated from a series of signaling proteins to achieve the best efficiency in producing energy, in establishing a network and in performing their own de novo synthesis or clearance. Dysfunctions in signaling processes that control mitochondrial biogenesis, dynamics and bioenergetics are increasingly associated with impairment in brain development and involved in a wide variety of neurodevelopmental disorders. Here, we review recent evidence proving the emerging role of mitochondria as master regulators of brain bioenergetics, highlighting their control skills in brain neurodevelopment and cognition. We analyze, from a mechanistic point of view, mitochondrial bioenergetic dysfunction as causally interrelated to the origins of typical genetic intellectual disability-related neurodevelopmental disorders, such as Down, Rett and Fragile X syndromes. Finally, we discuss whether mitochondria can become therapeutic targets to improve brain development and function from a holistic perspective.

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9. Wang W, Wang X. Non-suicidal self-injury in Chinese college students with elevated autistic traits: Associations with anxiety, rumination and experiential avoidance. Compr Psychiatry;2023 (Aug 6);126:152407.

Although existing studies have proved that autistic traits (AT) may have relations to non-suicidal self-injury (NSSI) behaviors, its associations with anxiety, rumination and experiential avoidance (EA) are still unclear. The current study, based on a sample of 1317 Chinese college students, explored the associations between AT, anxiety and NSSI, and the possible modulating roles of rumination and EA in these associations. The results shows that 1) a total of 334 (25.36%) students reported a history of NSSI and 30 (2.28%) students were categorized as high AT; 2) Students with high AT reported higher rates of NSSI than those with low AT (36.67% vs. 25.10%); 3) AT, anxiety, rumination and EA have positive relations with NSSI; 4) AT predicted NSSI indirectly through anxiety; 5) Rumination and EA significantly moderated the effects of AT on NSSI via anxiety. In conclusion, this study confirms the indirect effect of AT on NSSI through anxiety in Chinese college students, and further clarifies the reinforcing effects of rumination and EA on the associations between AT, anxiety and NSSI. These findings suggest that developing adaptive emotion-regulating strategies and positive coping styles might promote the prevention and treatment of NSSI behaviors among autistic individuals.

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