A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder
Autism Spectrum DisorderThis 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to conduct CNV experiments and the genotype-phenotype correlations. Based on our previous findings, probands with CNVs larger than 500kb has been identified and their families will be newly recruit in the present project to reveal the origin of the CNVs and reveal the clinical feature of the families. The significant findings in specific genes will conduct pathway analysis to reveal the etiology in ASD, providing further understanding in the disease.
Hyperthermia and the Amelioration of Autism Symptoms
Autism Spectrum DisorderThe febrile hypothesis of Autism Spectrum Disorder (ASD) stems from the observation that clinical symptoms improve during fever. This fever induced amelioration of symptoms could be due to one of three possible causes, (1) the direct effect of temperature; (2) a resulting change in the immune inflammatory system function associated with the infection or fever; and/or (3) and increase in the functionality of a previously dysfunctional Locus Coeruleus-Noradrenerigic (LC-NA) system. Little has been done to explore the potential direct effect an increased body temperature may have on autism symptomology. Parental reports have demonstrated that during febrile episodes children with ASD have improved social cognition and language skills, and decreased disruptive behaviors. In order to further explore the direct temperature effect, further investigation is needed, which the investigators propose below. The investigators propose to complete a one year double blind crossover study with 15 children with ASD between the ages of 5 and 17 years old. Five children with ASD will complete a control protocol prior to beginning the full protocol with 10 additional ASD children. This will allow for any needed amendment of protocol parameters prior to completion of the full protocol.
Study to Evaluate the Janssen Autism Knowledge Engine in Children and Adults With Autism Spectrum...
Autism Spectrum DisorderThe purpose of this study is to assess the usability of the Janssen Autism Knowledge Engine (JAKE) as a system to monitor clinical outcomes in autism spectrum disorder (ASD) (severe abnormalities in the development of many basic psychological functions that are not normal for any stage in development. These abnormalities are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements).
Improving Hospitalizations for Children With ASD
Autism Spectrum DisorderAutistic DisorderThis study aims to implement and test a specific brief Applied Behavior Analysis model for assessing and responding to severe challenging behavior during acute medical and behavioral hospitalization for children with ASD. The investigators will evaluate the impact of this program by conducting a randomized trial across both medical and psychiatric hospital settings.
Emotion Regulation in Preschoolers With Autism and Their Parents
Autism Spectrum DisordersIn the proposed study, the investigators would like to investigate the emotion regulation (ER) strategies children with Autism Spectrum Disorders (ASD) demonstrate, and the influence parents have on their children's ER. More specifically, the investigators would like to examine what are the ER mechanisms that parents use, what mechanisms of self regulation children with autism internalize, and how parents support and improve the ER capabilities of their child with ASD. These will be studied in a behavioral level, using micro-analysis of parent-child interaction, and in a physiological level, using indexes of stress control and affiliation. In addition, in order for parental ER support to be effective, it is important to consider more innate neuro-developmental difficulties children with ASD demonstrate that strongly affect their ability to regulate themselves. These include sensory regulation difficulties, temperament, attention disorders and poor executive functioning. Hypotheses: ER strategies used by children with ASD will be more poorly developed and less effective, compared to those of children in the control groups. Difficult temperament and sensory regulation difficulties will hamper ER in children with ASD. ER strategies of parents of children with ASD will be more poorly developed and less effective than those of parents in the control groups. Good parental self-ER and parental attunement to the child will be predictive of improved ER in children with ASD, and in parent-child synchrony, both in the behavioral and in the physiological levels.
Social Interactions: Ocular Explorations and Pupillometry in Autism
Autism Spectrum DisordersThe primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to evaluate these markers in children with autism. The second objective of this work will be to achieve in a population of children with autism a longitudinal evaluation of these markers during development and therapeutics.
ASD-specific Induced Pluripotent Stem Cells for Disease Modeling
Autism Spectrum DisorderSpecific Aims: To generate induced-pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) isolated from whole blood of ASD probands and healthy controls. To derive neural progenitor cells (NPCs) and neurons from iPSCs of ASD probands and healthy controls and compare differences between patients and healthy controls to investigate the cellular phenotype of ASD and uncover the pathophysiology of the disease.
Build-up of Action Representation in Autism Spectrum Disorders
HealthyAutism Spectrum DisorderAutistic spectrum disorders (ASD) are highly debilitating developmental syndromes which core feature is social and communications disorders. Motor skill impairments are frequently described in autism, but few studies have addressed the question of their origin and their specificity. Furthermore, it is not clear whether motor problems encountered in autism are related to dyspraxia, or if they present with specific features. This project aims at deciphering the origin of motor problems encountered by children who grow-up with autism in order to propose early interventions that could influence the other developmental trajectories, such as the social one. Brain dynamics during sensori-motor learning is explored by applying magnetoencephalography (MEG) during the Bimanual Load-Lifting paradigm. Different motor processes namely: proprioceptive monitoring, use and update of a sensori-motor representation, anticipatory executive control will be correlated to brain oscillation modulation, both topographically and temporally. Two groups of children (aged between 7 and 12) are compared: a group of children with ASD and a control group of typically developing children.
Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in...
Autism Spectrum DisorderSpecific Aims of this study: To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV; To perform the analysis of gene expression; To investigate the HDAC4 protein level expression; To investigate the correlation of clinical/cognitive features with HDAC4 CNV, RNA and protein expression in ASD patients, and compare with their unaffected family members.
Early Intervention, Supervision, Quality and Outcome in ASD
Autism Spectrum DisorderThe objective of this study is to examine the significance of knowledge of autism spectrum disorder (ASD), and early intensive behavioral intervention, as well as trust in EIBI, adequate assessment of EIBI quality, and EIBI supervision on EIBI intervention outcome in ASD.