Search results for "AUTISM"
showing 10 items of 457 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…
Lost in the Social World: How Social Cognitive Deficits Affect Social Functioning of People with Asperger Syndrome
2012
Were we to visualise autism spectrum disorders as a continuum, Asperger syndrome (AS) would be situated at one of its extremes. What appears to determine each individual’s position in this continuum is his or her symptomatology. In the case of AS symptomatology presents itself more discretely. According to Barthelemy (2000), the abovementioned symptomatology can be grouped in three major areas: a) difficulties in development of social interaction; b) difficulties in verbal and nonverbal communication; and c) presence of fixated interests, routines or rituals and repetitive behaviours. Being a developmental disorder, symptoms vary according to age. While some features tend to disappear with …
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: …
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients
2003
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients
On the Development of VR and AR Learning Contents for Children on the Autism Spectrum
2018
Autism spectrum disorder (ASD) is an umbrella term used to group a range of brain development disorders. The learning profile of most people with ASD is mainly visual, and VR and AR technologies offer important advantages to provide a visually based mean for gaining access to educational contents. The prices of VR and AR glasses and helmets have fallen. Also, a number of tools that facilitate the development and publication of AR and VR contents have recently appeared. Therefore, a scenario of opportunity for new developments has appeared in this field. This chapter offers guidelines for developing AR and VR learning contents for people on the autism spectrum and analyses those guidelines f…
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 …
Immunological and psychological responses to psychosocial stress in caregivers of autistic offspring
2011
IntroductionCaregivers of relatives with chronic diseases has shown lower rest levels of immunoglobulin A than non-caregivers (Gallagher et al., 2008). In response to mental stress, IgA levels used to be increased in healthy population (Okamura et al. 2010). Scarce studies have been focused on immunological effects of caregiving in response to stress, and the results are controversial. To our knowledge, there are no studies stressing this field in chronically stressed populations such as caregivers of autistic offspring.Objectives and aimsEvaluate whether caregivers present different psychosocial and immunological responses to acute stress than non-caregivers, as well as what is the role of…
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…
Perfiles en comprensión lectora y en composición escrita de niños con autismo de alto funcionamiento
2020
La investigación sobre el perfil académico de los estudiantes con Trastorno del Espectro Autista (TEA) refiere un desempeño variable, generalmente inferior a lo esperado para la capacidad cognitiva. En el marco escolar, la lectura y la escritura constituyen aprendizajes instrumentales cruciales que vertebran el éxito en distintas áreas curriculares y tienen implicaciones importantes a lo largo de la vida, no solo académica, sino también social y ocupacional. En este artículo se realiza una breve revisión de las principales dificultades que presentan los estudiantes con TEA en la lectura y la escritura. Con respecto a la lectura, los estudios coinciden en señalar un buen dominio de los proce…