Search results for " Autism Spectrum Disorder"
showing 10 items of 11 documents
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…
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…
Low Carbohydrate Diet (SCD/GAPS) for Children with Autistic Spectrum Disorder
2019
Objective of the study was to investigate the potential of low carbohydrate diet (SCD/ and supplements in reducing some autistic spectrum disorder ASD symptoms in children.
Boolean Networks: A Primer
2021
Abstract Autism Spectrum Disorders (ASDs) stand out as a relevant example where omics-data approaches have been extensively and successfully employed. For instance, an outstanding outcome of the Autism Genome Project relies in the identification of biomarkers and the mapping of biological processes potentially implicated in ASDs’ pathogenesis. Several of these mapped processes are related to molecular and cellular events (e.g., synaptogenesis and synapse function, axon growth and guidance, etc.) that are required for the development of a correct neuronal connectivity. Interestingly, these data are consistent with results of brain imaging studies of some patients. Despite these remarkable pr…
The Quality of Life among Siblings of Autistic Individuals: A Scoping Review
2023
Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders presenting at a tender age, defined by qualitative deficits in social interactions and communication, thus having a substantial influence on the subject’s family unit. Quality of life (QoL) refers to a person’s perspective of their life situation, cultural and value background, objectives, expectations, and standards. When focusing on childhood and adolescence, age-related changes should be considered. For this scoping review, the authors used three peer-review literature database sources (PubMed/MEDLINE, Scopus, and ERIC) to delve deeper into components of the QoL of non-autistic siblings of autistic indivi…
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 …
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Scurvy as an alarm bell of autistic spectrum disorder in the first world: A case report of a 3-year-old girl
2021
Patient: Female, 3-year-old Final Diagnosis: Scurvy and autistic spectrum disorder Symptoms: Bleeding gums • pain • petechia Medication: — Clinical Procedure: Haematochemical blood examinations • radiographic study Specialty: Endocrinology and Metabolic Objective: Rare disease Background: Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. Case Report: A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ra…
Il Protocollo RE4BES per il potenziamento delle abilità cognitive, emotive e sociali di un bambino con disturbo dello spettro autistico
2020
The study reports an intervention study on a child with Autism Spectrum Disorder. The intervention was conducted using some activities included in the RE4BES protocol, a collection of guidelines for the implementation of educational robots intervention for children and young people with special educational eeeds. To assess the efficacy of the intervention, an A-B-A quasi-experimental design was used, in which the involved child was repeatedly evaluated before, during and after treatment. The results showed that robotics activities produced significant changes in his fine motor skills, verbal and preverbal skills, social reciprocity and emotional expression. Furthermore, it was possible to o…
MATERNAL EXPOSURE TO STRESSFUL/TRAUMATIC EVENTS AND AUTISM SPECTRUM DISORDERS IN OFFSPRING: PRELIMINARY FINDINGS OF A CASE CONTROL PILOT STUDY.
2023
The correlation between maternal exposure to stressful and traumatic events during pregnancy and autism spectrum disorder (ASD) in offspring has been studied in the literature. Fewer studies, however, have considered the mother's exposure to traumatic events during childhood. This work focuses on maternal exposure to these events in childhood and/or adulthood, relating it to autism spectrum disorder in offspring. A questionnaire was used to assess whether and to what type of event the mothers have been exposed, and to assess eventual peri-traumatic dissociation related to the traumatic event. The mothers involved in this study were recruited at the Child Neuropsychiatry Outpatient Clinic of…