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Molecular Autism
Scopus
ISSN 2040-2392 · BMC · 651 artikel di indeks
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Artikel Jurnal
Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity
Abstract Background The MECP2 gene is located on the X chromosome and encodes a methyl-CpG-binding protein 2 involved in transcriptional regulation. Loss-of-function mutations in the MECP2 gene lead to Rett syndrome, a severe neurodevelopmental disorder. The clinical picture of Rett syndrome…
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Artikel Jurnal
Large-scale neural network compensation associated with camouflaging in trait autism and its potential mental health costs
Abstract Background Social camouflaging refers to strategies to hide or compensate for social difficulties, often at significant mental health costs, and is particularly prevalent in autism. The large-scale neural network associated with this adaptation remains poorly understood. This study aimed…
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Artikel Jurnal
Cerebellar purkinje cell dysfunction contributes to gait impairments in Shank3-mutant mice
Abstract Background Complex motor dysfunction is a common comorbidity of autism spectrum disorder (ASD) and may be attributed to the perturbation of cerebellar function. Purkinje cells (PCs), which serve as the primary output neurons of the cerebellum, are integral to various aspects of cerebellar…
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Artikel Jurnal
Cholecystokinin upregulation in mPFC leads to social defeat-induced anxiety susceptibility in neuroligin 3 R451C knockin mice
Abstract Background Anxiety is a prevalent and clinically debilitating comorbidity in autism spectrum disorder (ASD), yet its underlying neurobiological mechanisms remain incompletely elucidated. This study aimed to investigate the role of dysregulated cholecystokinin (CCK) signaling within the…
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Artikel Jurnal
Sub-groups of spoken language and broader communication skills in a large heterogenous cohort of minimally verbal school-age children: evidence of discrepant profiles
Abstract Background Communication and language profiles in neurodevelopmental conditions are characterised by enormous phenotypic heterogeneity. We sought to identify subgroups of Minimally Verbal (MV) children in a school-age transdiagnostic sample. We hypothesised that a cluster with a discrepant…
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Artikel Jurnal
Priorities for change for autistic people across Europe
Abstract Background Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world. Methods We conducted the 10 Points for Change survey to identify the 10 most important areas that require improvement for…
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Artikel Jurnal
Reduced inter-subject functional connectivity during movies in autism: replicability across cross-national fMRI datasets
Abstract Background Autism is a neurodevelopmental disorder characterized by repetitive behaviors and difficulties in social communication and interaction. Previous research has shown that these symptoms are linked to idiosyncratic behavioral and brain activity patterns while viewing natural social…
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Artikel Jurnal
Association of glymphatic dysfunction, free water, white matter integrity and long-term memory performance in aging autistic adults
Abstract Background Autistic adults are at elevated risk of accelerated cognitive aging and Alzheimer’s disease and related dementias (ADRD), yet the underlying neurobiological mechanisms remain poorly understood. Dysfunction in the glymphatic system—a brain-wide network responsible for clearing…
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Artikel Jurnal
From cognitive abstraction to adaptive behavior: neural bases of concept learning in autistic adolescents
Abstract Background Learned knowledge does not consistently generalize to new contexts in autistic individuals, limiting potential for adapting to real-world demands. This challenge is hypothesized to stem from difficulties with forming abstract representations, potentially arising from perceptual…
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Artikel Jurnal
JUND-driven stress-responsive astrocytes promote neuronal apoptosis via enhanced gap junction signaling in autism spectrum disorder
Abstract Background Dysregulated stress responses are increasingly implicated in the pathophysiology of autism spectrum disorder (ASD). Astrocytes, which are highly vulnerable to stress, critically support neuronal survival; however, their specific role in ASD remains poorly defined. Methods We…
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Artikel Jurnal
A transdiagnostic AI-based measure of interpersonal coordination in autism and other conditions
Abstract Background Interpersonal coordination is a fundamental social behavior that has been shown to be reduced in autism, though less is known about other psychiatric conditions. An automated quantitative measure of interpersonal coordination would enhance assessment, diagnosis, and monitoring…
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Artikel Jurnal
Predicting early intervention outcomes in autism via individual participant data mega-analysis
Abstract Background Autism early intervention meta-analyses have yielded important insights into questions such as ‘what works’ and ‘for what’ outcomes. However, because these studies primarily rely on study-level summary statistics, they may be limited with regard to more individualized insights…
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Artikel Jurnal
Predicting emotional valence in autism: a preregistered study in the Bayesian Brain framework
Abstract Background Autism spectrum disorder (ASD) affects social interaction, communication and behavioural flexibility. Recent theories grounded in the Bayesian Brain Framework propose that autistic individuals process environmental uncertainty differently, overweighting volatility when updating…
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Artikel Jurnal
Nuances of double empathy in autistic and non-autistic people: examination using the empathic accuracy paradigm
Abstract Background Social communication difficulties in autism were traditionally attributed to deficits in empathy, that is, understanding others’ mental states and responding to these with a similar or appropriate emotion, within autistic individuals. The double empathy problem theory proposes…
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Artikel Jurnal
Social enhancement of associative learning in neurotypical, speaking autistic, and minimally speaking autistic preschoolers
Abstract Background Associative learning, defined as the ability to form connections between events based on temporal or spatial contiguity, is typically enhanced by social stimuli. Whether social stimuli similarly enhance associative learning in autism, particularly among minimally speaking…
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Artikel Jurnal
Developing a consensus research definition for profound autism using a modified Delphi method
Abstract Background The diagnostic term, autism spectrum disorder, encompasses the full range of impairments associated with the autism spectrum, a significant change from earlier DSM definitions that identified various subtypes of autism. However, the majority of autism-related research and…
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Artikel Jurnal
Serum and cerebral folate are normal in Down Syndrome Regression Disorder
Abstract Background Neuropsychiatric regression in individuals with Down syndrome (DS), termed Down Syndrome Regression Disorder (DSRD), has been reported to occur in the 2nd and 3rd decade of life. Symptoms of DSRD include acute onset of encephalopathy, catatonia, hallucinations, obsessive…
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Artikel Jurnal
Mapping sensory sensitivity in autism
Abstract Background Sensory perception in autism is strikingly heterogeneous, with individuals showing both hypo- and hypersensitivity across different sensory domains. While sensory differences are widely recognized as a core feature of autism, the structure and underlying patterns of this…