Search results for "Autism spectrum disorder"
showing 10 items of 237 documents
Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment
2021
Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin abnormalities, heart disease and facial dysmorphisms. Less well studied are the neuropsychiatric symptoms such as ASD. Here, we assess the relevance of these signalopathies in ASD reviewing genetic, human cell model, rodent studies and clinical trials. We conclude that signalopathies have an increased liability for ASD and that, in particular, ASD individuals with dysmorphic features and intellectual disability (ID) have a higher chance for disrup…
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence
2016
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…
Influence of a Specific Aquatic Program on Social and Gross Motor Skills in Adolescents with Autism Spectrum Disorders: Three Case Reports
2019
Swimming pool activities revealed to be efficacious to train psychomotor skills and increase adaptive behaviors in children with Autism Spectrum Disorders (ASD). Therefore, the purpose of this study was to investigate the efficacy of a specific multi-systemic aquatic therapy (CI-MAT) on gross motor and social skills in three adolescents with Autism Spectrum Disorders (ASD). Methods: three adolescents with ASD of which two boys (M1 with a chronological age of 10.3 years and a mental age of 4.7 years; M2 with a chronological age of 14.6 and a mental age inferior to 4 years) and one girl (chronological age of 14.0 and a mental age inferior to 4 years). The study was divided into three phases: …
Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project
2021
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed …
Pedagoģiskie risinājumi pieaugušo ar autismu iekļaušanai darba tirgū
2016
Mūsdienu sabiedrībā ir īpaši svarīgi zināt un izprast nodarbinātības situāciju cilvēkiem ar autisma spektra traucējumiem un viņu iekļaušanās darba tirgū nosacījumus, kā arī izcelt darba mediatoru lomu un darba svarīgumu. Diemžēl šie jautājumi bieži netiek risināti. Šī darba teorētiskajā sadaļā raksturoti autisma spektra traucējumi pieaugušo vecumā un izklāstīti principi, kas sekmē cilvēku ar autisma spektra traucējumiem iekļaušanos darba tirgū. Tiek arī vērsta uzmanība uz citiem aspektiem, kas ar to saistīti, piemēram, sociāli emocionālo attīstību, patstāvību un brīvā laika organizēšanas principiem. Empīriskajā daļā, izmantojot anketas, nestrukturētas intervijas un novērošanu, tiek identifi…
Symbolic play among children with autism spectrum disorder: a scoping review
2021
Symbolic play is considered an early indicator in the diagnosis of autism spectrum disorder (ASD) and its assessment. The objective of this study was to analyze the difficulties in symbolic play experienced by children with ASD and to determine the existence of differences in symbolic play among children with ASD, children with other neurodevelopmental disorders and children with typical development. A scoping review was carried out in the Web of Science (WoS), Scopus, ERIC, and PsycInfo databases, following the extension for scoping reviews of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. The number of papers included in the review was 22. The r…
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
2017
International audience; Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC …
Homocysteine Levels in Autism Spectrum Disorder: A Clinical Update
2017
Background and objective Homocysteine (Hcy) is a non-protein α-amino acid, which plays several important roles in human physiology and in the central nervous system. Although Hcy has several known biological properties in one-carbon metabolism, its overproduction might be harmful, and could add to the pathophysiology associated with ASD. We reviewed the current evidence about changes in Hcy concentration in ASD and tried to correlate its changes with the clinical profile Discussion: The concentration of the amino acid in biological fluids (blood and urine) in children/ youngs with ASD is increased in the majority of studies when comparing to typically developing control subjects. Some repor…
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
2017
AbstractGenetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. We systematically evaluated PMMs by leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection. We found evidence that 11% of published single nucleotide variant (SNV)de novomutations are potentially PMMs. We then developed a robust SNV PMM calling approach that leverages complementary callers, logistic regression modeling, and additional heuristics. Using this approach, we recalled SNVs and found that 22% ofde novomutations like…