Veille Pubmed

Modifié le 27/05/2024

Cerebral blood flow changes and their genetic mechanisms in autism spectrum disorder: a combined neuroimaging and transcriptome study

Le Tue, 26 Aug 2025 06:00:00 -0400

CONCLUSION: The transcription - neuroimaging associations arising from cerebral perfusion redistribution in ASD are supplemented in an additional way, which helps in enhancing the understanding of the ASD brain.

Self-reported strengths and talents of autistic adults

Le Tue, 26 Aug 2025 06:00:00 -0400

Many adults express dissatisfaction with the autism diagnostic process, and concerns have been cited regarding the lack of neurodiversity-affirming assessment methods. In part, this is due to instruments framing behaviors as symptoms causing impairment, overlooking potential benefits. Systematically measuring strengths and talents during assessment may inform diagnosis and support planning in a more neurodiversity-affirming manner. Historically, research has relied on caregiver-reported...

Elevated autistic features in Parkinson's disease and other motor disorders

Le Tue, 26 Aug 2025 06:00:00 -0400

Biological accounts have suggested an overlap between Parkinson's disease and autism despite their being studied largely at opposite ends of the life course. Characterising this overlap can identify potentially shared aetiologies and care pathways for these conditions. However, this overlap has so far only been tested in older autistic adults who show greater Parkinson's disease traits. The converse has not been directly assayed, that is, if adults with Parkinson's disease have higher autistic...

A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis

Le Tue, 26 Aug 2025 06:00:00 -0400

CONCLUSIONS: We describe a novel neurodevelopmental disorder with spastic paraparesis and a high carrier rate in the Ashkenazi Jewish population. Our results indicate that TBCB has a vital role in CNS development and potentially in axonal function in humans.

Specialists' Perspectives on Social Stories in Managing Individuals With Autism in the Dental Care Setting

Le Tue, 26 Aug 2025 06:00:00 -0400

CONCLUSION: This study showed that both Queensland specialists in pediatric dentistry and SCD find social stories to be a useful tool in the management of patients with autism. Further research would enable greater insights into the perception of social stories among dental specialists across Australia.

Evaluating the impact of labor induction on autism spectrum disorder risk

Le Mon, 25 Aug 2025 06:00:00 -0400

CONCLUSION: Labor induction was associated with a higher ASD incidence but not as an independent risk factor after adjusting for maternal and perinatal factors.

Bcl11a deficiency in cerebellar Purkinje cells causes ataxia and autistic-like behavior by altering Vav3

Le Mon, 25 Aug 2025 06:00:00 -0400

BCL11A encodes a transcription factor essential for brain development, with pathogenic variants causing intellectual disability, autism spectrum disorder (ASD), microcephaly, hypotonia, and behavioral abnormalities. While clinical studies have identified cerebellar pathology in patients with BCL11A variants, the specific roles of this gene in cerebellar function and its relationship to clinical symptoms remain unclear. In this study, we demonstrate that Bcl11a is predominantly expressed in...

Bridging diagnostic safety and mental health: a systematic review highlighting inequities in autism spectrum disorder diagnosis

Le Mon, 25 Aug 2025 06:00:00 -0400

CONCLUSIONS: Diagnostic inequities in ASD and other mental disorders persist across US patient populations. Multiple factors such as parental health literacy, provider bias and limited access interact and impact the diagnostic process. Addressing these interconnected barriers is essential to ensure timely, accurate and equitable care.

Cannabinoid Receptors CB1 and CB2 Activation Restores Hippocampal Lipid Profiles and Alleviates Autism-Like Behaviors in Valproic Acid-Induced ASD Rats

Le Mon, 25 Aug 2025 06:00:00 -0400

CONCLUSIONS: CB1R/CB2R activation ameliorates behavioral abnormalities and rectifies hippocampal lipid dysregulation in VPA-induced ASD models, highlighting cannabinoid receptors as potential therapeutic targets for ASD-associated metabolic disturbances.

Knockdown of CDKN1A Suppresses the IL-17 Pathway to Inhibit Oxidative Stress and Alleviate Autism Spectrum Disorder

Le Mon, 25 Aug 2025 06:00:00 -0400

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social interaction, communication deficits, and repetitive behaviors. However, the underlying molecular mechanisms remain elusive. This study aims to investigate the role of cyclin-dependent kinase inhibitor 1 A (CDKN1A) in ASD. This study integrated multi-omics bioinformatics analysis to identify differentially expressed genes (DEGs) related to oxidative stress in ASD. Hub genes were screened...

The relationship between autism spectrum disorder and screen time in children: a literature review

Le Mon, 25 Aug 2025 06:00:00 -0400

CONCLUSION: Although there is evidence suggesting a link between screen time and ASD, the relationship remains unclear; further research is needed to better understand these connections and develop effective interventions for children with this disorder.

BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients

Le Mon, 25 Aug 2025 06:00:00 -0400

CONCLUSION: The diagnosis of BCKDK deficiency should be suspected in patients with NDD and autism, and BCAA supplementation should be initiated as soon as diagnosis confirmation to prevent irreversible brain damage. The results emphasize that early diagnosis and dietary intervention by regulating plasma BCAA levels lead to the prevention of irreversible neurodevelopmental implications.

Beyond FACS: Data-driven Facial Expression Dictionaries, with Application to Predicting Autism

Le Mon, 25 Aug 2025 06:00:00 -0400

The Facial Action Coding System (FACS) has been used by numerous studies to investigate the links between facial behavior and mental health. The laborious and costly process of FACS coding has motivated the development of machine learning frameworks for Action Unit (AU) detection. Despite intense efforts spanning three decades, the detection accuracy for many AUs is considered to be below the threshold needed for behavioral research. Also, many AUs are excluded altogether, making it impossible...

Perinatal Air Pollution Exposure and Autism spectrum disorder Severity: The Intertwined Roles of Green Space, Grey Space and Healthcare Accessibility - A Cohort Study

Le Sun, 24 Aug 2025 06:00:00 -0400

CONCLUSIONS: These findings highlight the critical role of healthcare accessibility and environmental factors in shaping the relationship between air pollution and ASD severity. Integrating geographic and environmental contexts is crucial when evaluating the environmental determinants of ASD outcomes.

Association Between Joint Attention and Autism Traits in Young Adults: A Gaze-Contingent Eye-Tracking Study

Le Fri, 22 Aug 2025 06:00:00 -0400

CONCLUSIONS: Findings advance our understanding of JA linked with autism traits in adulthood and showcase the feasibility of interactive eye-tracking methodologies in JA research. Limitations and implications for research are discussed.

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