Search results for " Autism"
showing 10 items of 65 documents
Autism spectrum disorders in children affected by Duchenne muscular dystrophy
2018
Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…
Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain
2020
Genetic disruption of synaptic proteins results in a whole variety of human neuropsychiatric disorders including intellectual disability, schizophrenia or autism spectrum disorder (ASD). In a wide range of these so-called synaptopathies a sex bias in prevalence and clinical course has been reported. Using an unbiased proteomic approach, we analyzed the proteome at the interaction site of the pre- and postsynaptic compartment, in the prefrontal cortex, hippocampus, striatum and cerebellum of male and female adult C57BL/6J mice. We were able to reveal a specific repertoire of synaptic proteins in different brain areas as it has been implied before. Additionally, we found a region-specific set…
Semaphorins in Adult Nervous System Plasticity and Disease
2021
Semaphorins, originally discovered as guidance cues for developing axons, are involved in many processes that shape the nervous system during development, from neuronal proliferation and migration to neuritogenesis and synapse formation. Interestingly, the expression of many Semaphorins persists after development. For instance, Semaphorin 3A is a component of perineuronal nets, the extracellular matrix structures enwrapping certain types of neurons in the adult CNS, which contribute to the closure of the critical period for plasticity. Semaphorin 3G and 4C play a crucial role in the control of adult hippocampal connectivity and memory processes, and Semaphorin 5A and 7A regulate adult neuro…
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…
2021
Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…
Do Brincar do Bebê ao Brincar da Criança: Um Estudo sobre o Processo de Subjetivação da Criança Autista
2018
RESUMO O brincar primitivo do bebê poderia nos revelar traços precoces de uma provável organização autística em curso na criança pequena? Em que medida o investimento do bebê face aos objetos do mundo externo e do ambiente poderia ser associado a suas primeiras experiências com o objeto materno? Tais questões são levantadas neste artigo, cujo principal objetivo é abordar o processo de subjetivação da criança autista a partir da correlação entre o brincar primitivo do bebê e o brincar simbólico da criança. Por meio de um estudo longitudinal de bebês com risco de autismo, constatou-se que, desde uma idade precoce, é possível detectar particularidades na maneira como eles investem e interagem …
Duplication 12q21 in a patient with autistic disorder
2009
Avantatges i desavantatges de l'educació biblingüe en xiquets amb trastorn de l'espectre autista
2013
Aquest treball exposa una revisió de la literatura científica centrada en els efectes de l'educació bilingüe en escolars amb trastorns de l'espectre autista (TEA), duta a terme per tal d'explorar els possibles avantatges i desavantatges de proporcionar educació en més d'un idioma per a aquests xiquets amb necessitats especials. Malgrat que desaconsellar l'educació bilingüe és una pràctica bastant comuna entre alguns professionals de l'educació i de la salut, tots els estudis empírics moderns donen suport a la idea que l'educació bilingüe no sols no produeix cap desavantatge específic, sinó que fins i tot facilita l'adquisició futura d'algunes destreses.
Sexuality in autism: hypersexual and paraphilic behavior in women and men with high-functioning autism spectrum disorder
2017
Like nonaffected adults, individuals with autism spectrum disorders (ASDs) show the entire range of sexual behaviors. However, due to the core symptoms of the disorder spectrum, including deficits in social skills, sensory hypo- and hypersensitivities, and repetitive behaviors, some ASD individuals might develop quantitatively above-average or nonnormative sexual behaviors and interests. After reviewing the relevant literature on sexuality in high-functioning ASD individuals, we present novel findings on the frequency of normal sexual behaviors and those about the assessment of hypersexual and paraphilic fantasies and behaviors in ASD individuals from our own study. Individuals with ASD see…
Lack of institutional support entails disruption in cortisol awakening response in caregivers of people with high-functioning autism.
2013
Several studies have found disruptions in cortisol awakening response in informal caregivers. Institutional support may modulate these effects, and this study analyses how the health of caregivers is affected when institutional support is provided for families of people with high-functioning autism. Self-reported health, depression and cortisol awakening response were analysed in three groups: supported caregivers, non-supported caregivers and non-caregivers. Non-supported caregivers presented higher somatic symptoms and lower cortisol awakening response than the supported caregiver and non-caregiver groups. A high number of somatic symptoms and low functionality of offspring were related …
Using ‘Ambient Intelligence’ for Compensating Intellectual Difficulties of People with Severe Learning Difficulties and/or Autistic Spectrum Disorders
2004
This paper describes a set of services and software created so that what is called ‘ambient intelligence’ would compensate for the ‘intellectual difficulties’ that people from this collective have. Existing concepts and standards of ambient intelligence are strongly reinforced through the use of the exact current user’s position as a key factor to calculate how the ‘digital home’ or any ‘digital environment’ behaves at every moment. This will be obtained using both Wi-Fi personal locators (embedded in necklaces or bracelets) and Wi-Fi communication from the PDA. This mix, together with individual capabilities and preferences, makes the development of a wide range of services possible when c…