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Duchenne muscular dystrophy: recent insights in brain related comorbidities
Published 2025-02-01“…Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. …”
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Rett syndrome complicated by diabetes mellitus type 1
Published 2025-02-01“…A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. …”
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Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling
Published 2025-02-01“…Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disability condition arising from a combination of genetic and environmental factors. …”
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Assessing the Impact of Inclusive Education on Children with Disabilities in Kisoro Municipality.
Published 2024“…Very few respondents (1-5%) could mention other types of disability like autism, or mental disabilities. The study concluded that the concept of all-inclusive education means welcoming all children, without discrimination, into regular or ordinary schools. …”
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The language use Inventory-Persian: report of the psychometric properties
Published 2025-02-01“…Then, 348 parents/caregivers of three groups of children consisting of typically developing (TD), late-talking children, and ones with autism spectrum disorders (ASD) 18-47-month-old Persian-speaking children completed the adapted version of the LUI. …”
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Exploring Inhibitory Control Processes in Highly Superior Autobiographical Memory (HSAM): A Single Case Study
Published 2025-01-01“…Participants also completed a screening for obsessive compulsive disorder and autism. Results indicate that DT’s inhibitory functioning is comparable to that of the typical population, and thus not exceptional. …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi...
Published 2024-07-01“…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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