Search results for "Autism spectrum"
showing 10 items of 239 documents
The K63 deubiquitinase CYLD modulates autism-like behaviors and hippocampal plasticity by regulating autophagy and mTOR signaling.
2021
Nondegradative ubiquitin chains attached to specific targets via Lysine 63 (K63) residues have emerged to play a fundamental role in synaptic function. The K63-specific deubiquitinase CYLD has been widely studied in immune cells and lately also in neurons. To better understand if CYLD plays a role in brain and synapse homeostasis, we analyzed the behavioral profile of CYLD-deficient mice. We found that the loss of CYLD results in major autism-like phenotypes including impaired social communication, increased repetitive behavior, and cognitive dysfunction. Furthermore, the absence of CYLD leads to a reduction in hippocampal network excitability, long-term potentiation, and pyramidal neuron s…
Dental care protocol based on visual supports for children with autism spectrum disorders
2015
Background : Subjects with Autism Spectrum Disorders (ASDs) have often difficulties to accept dental treatments. The aim of this study is to propose a dental care protocol based on visual supports to facilitate children with ASDs to undergo to oral examination and treatments. Material and Methods : 83 children (age range 6-12 years) with a signed consent form were enrolled; intellectual level, verbal fluency and cooperation grade were evaluated. Children were introduced into a four stages path in or der to undergo: an oral examination (stage 1), a professional oral hygiene session (stage 2), sealants (stage 3), and, if necessary, a restorative treatment (stage 4). Each stage came after a vi…
Pragmatic competence of children with autism spectrum disorder. Impact of theory of mind, verbal working memory, ADHD symptoms, and structural langua…
2017
The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children's Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence). The second objective is to analyze whether theory of…
Communication deficits and avoidance of angry faces in children with autism spectrum disorder.
2017
Abstract Background Understanding how emotional faces are processed is important to help characterize the social deficits in Autism Spectrum Disorder (ASD). Aims We examined: (i) whether attention is modulated by emotional facial expression; (ii) the time course of the attentional preferences (short vs. long stimulus presentation rates); and (iii) the association between attentional biases and autistic symptomatology. Method and procedures We applied a dot-probe experiment with emotional faces (happy, sad, and angry). The sample was composed of ASD children without additional language and/or intellectual impairments (n = 29) and age-matched Typically Developing (TD) children (n = 29). Outco…
The role of linguistic and cognitive factors in emotion recognition difficulties in children with ASD, ADHD or DLD.
2018
Background Many children with neurodevelopmental disorders such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) or developmental language disorder (DLD) have difficulty recognizing and understanding emotions. However, the reasons for these difficulties are currently not well understood. Aims To compare the emotion recognition skills of children with neurodevelopmental disorders as well as those children's skills with the skills of their typically developing (TD) age peers. Also, to identify the role of underlying factors in predicting emotion recognition skills. Methods & procedures The 6-10-year-old children (n = 50) who participated in the study had eith…
Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology
2015
International audience; Autism spectrum disorder (ASD) is a neurodevelopmental disorder with no clinical biomarker. The aims of this study were to characterize a metabolic signature of ASD and to evaluate multiplatform analytical methodologies in order to develop predictive tools for diagnosis and disease follow-up. Urine samples were analyzed using (1)H and (1)H-(13)C NMR-based approaches and LC-HRMS-based approaches (ESI+ and ESI- on HILIC and C18 chromatography columns). Data tables obtained from the six analytical modalities on a training set of 46 urine samples (22 autistic children and 24 controls) were processed by multivariate analysis (orthogonal partial least-squares discriminant …
Emotional–Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders
2020
Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being. As some authors suggest, siblings build their idea of &ldquo
Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…
2010
Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
2013
Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, includi…
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…
2021
Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…