
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.

Developmental Trajectories in ASD Until Adulthood: A 15 Years Follow-up Study
Autism Spectrum DisordersEpidemiological studies have shown that a wide range of outcome trajectories exist in ASD, but little is known about their determinant in a long-term perspective. The EpiTED cohort was set-up in order to understand the heterogeneity of developmental trajectories among children with a diagnosis of PDD and the role of clinical, biological and environmental factors in their adaptive outcome. It is one of the rare cohorts involving a long term prospective follow-up based on a large set of variables, and precise phenotypes of the entire autism spectrum.

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.

Access to Tailored Autism Integrated Care Pilot Study
Autism Spectrum DisorderMental Health IssueChildren with autism spectrum disorder (ASD) represent a rapidly growing, high-priority clinical population highlighted by the NIMH and Interagency Autism Coordinating Committee due, in part, because they have multiple service needs including access to effective mental health treatment given high rates of psychiatric comorbidities. Pediatric primary care is a critical and ongoing point of health care access for children with ASD and thus represents an ideal setting for identification of mental health service needs and appropriate linkage to care. The proposed study will use implementation science theory and methods and a research-community partnership approach to: 1) identify targets to improve mental health screening and linkage to mental health services in primary care for children with ASD, 2) adapt integrated care procedures into "Access To Tailored Autism INtegrated Care," ATTAIN, to facilitate identification of mental health problems and linkage to evidence-based care for youth with ASD, and 3) conduct an open trial feasibility pilot test of ATTAIN in pediatric primary care.

Choice Switching and Autism
Autism Spectrum Disorder (ASD)The study aims to replicate and clarify a recently observed phenomenon whereby individuals with Autism Spectrum Disorder (ASD) switch between options in a repeated task to a greater extent than healthy controls do. In a meta-analysis a large effect size was found (.37) yet because the effect was noisy in different studies it was not statistically significant. The investigators seek to first examine a very large population through an Internet mediated platform. The sample size will be about the size of all of the previous studies that examined this issue together. Secondly, the investigators wish to understand the discrepancy between this choice switching phenomenon and the recorded tendency of ASD individuals to avoid changing choices. First, the investigators will administer the task in which the effect was found (the Iowa Gambling task) for a longer duration than previously and evaluate whether ASD individuals show increased choice switching in the first blocks of trials but reduced switching following more experience. Secondly, the investigators will administer an additional block of trials without feedback in which participants will not be able to go through a learning process. The investigators predict that this will reduce (and possible flip) the tendency of individuals with ASD to switch choices more often.

Use of an Adaptive Sensory Environment in Autism Spectrum Disorder (ASD) Patients in the Perioperative...
Autism Spectrum DisorderAnesthesia2 moreThe objective of this study is to prospectively examine the preoperative anxiety scores of ASD patients in an adaptive sensory environment. Additionally, the investigators aim to determine the relationship of severity of sensory integration in ASD patients and their preoperative anxiety scores. The study will also study the family satisfaction with tailored care of their ASD child in the peri-operative environment.

Precise Objective Automated Assessment System of Autism Spectrum Disorder From an Existing Big Cohort...
Autism Spectrum DisorderThe project's significance includes a big cohort of Autism spectrum disorder (ASD), originality/novelty (new approaches and technologies including next-generation sequencing, multi-echo functional MRI, metabolomics, microbiomics, and machine learning), and the integration of multi-dimentional measures. With the accomplishment of this project, we will establish the most comprehensive ASD bio-bank in Asia, develop ASD NGS panel, identify several ASD biomarkers, publish at least 15 SCI papers in total, and in the end, have patents registration and technology transfer of our precise objective, automated assessment system for ASD. Our findings will further advance our understanding of ASD, ultimately contribute to the early detection, diagnosis, and treatment of ASD, and be the first step of precise medicine for ASD.

Psychometric Studies of the Chinese Versions of the SRS, CAST, and AQ
Autism Spectrum DisorderAutism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder with prominent reciprocal social and communication impairment and restricted repetitive behavior or interest. ASD is a highly heritable disease with tremendous impact on individuals, families, and society. In addition to the interview instruments, self-administered rating scales are commonly used in screening, assessment of symptoms' change, and evaluation of intervention effects. The Social Responsiveness Scale, the Childhood Asperger's Syndrome Test, and the Autism Spectrum Quotient are internationally widely used rating scales measuring autistic traits in both clinical and community samples in western counties. Establishment of internationally-recognized reliable and valid instruments is not only useful for clinical screening, but also helpful in future functional outcomes, neurocognitive, genetic and brain imaging studies.

Structural and Functional Connectivity in Autism Spectrum Disorders
Autism Spectrum DisorderAutism spectrum disorder (ASD) has been given a high priority for genetic and neurobiological study. There is no such information in Asian population and no study has conducted using Diffusion Spectrum Imaging (DSI) to investigate the connectivity throughout the world. Moreover, no follow-up study has been done to examine the developmental changes of structural and functional connectivity. We anticipate to establishing a cohort of 50 ASD and their siblings with complete clinical, neuropsychological, brain imaging, and genetic data for longitudinal study on ASD. Our findings will contribute to our understanding of the structural and functional dysconnectivity for ASD and whether dysconnectivity can be an endophenotype for ASD and used as a biomarker for early diagnosis of ASD.

A Study to Evaluate Scales for Repetitive and Restricted Behaviors in Children, Adolescents, and...
Autism Spectrum DisorderThis is a non-drug study seeking to characterize different scales to measure repetitive and restrictive behaviors in different ASD sub-populations over time. This study will also explore the use of digital biomarkers.