Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without CNVs
The study aims to investigate whether neuropsychological function (particularly cognitive flexibility and executive function), functional (assessed by resting functional MRI, rfMRI) and structural connectivity (assessed by DSI), and electrophysiological function (assessed by event-related potential [ERP]: mismatch negativity, MMN and P50) can be effective cognitive endophenotypes (biomarkers) for Autism spectrum disorders (ASD).
|Official Title:||Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without Copy Number Variation and Their Unaffected Siblings|
The subjects will receive blood withdrawal. The blood sample will be used for establishing lymphoblastoid cell lines, which will be used for molecular genetic experiments.
|Study Start Date:||August 2012|
|Estimated Study Completion Date:||July 2015|
|Unaffected siblings of ASD+CNVs|
|Unaffected siblings of ASD-CNVs|
|Neurotypicals for ASD+CNVs comparisons|
|Neurotypicals for ASD-CNVs comparisons|
Autism spectrum disorders (ASD) is a common severe, multi-factorial, highly heritable, clinically and genetically heterogeneous, life-long impairing childhood-onset neurodevelopmental disorder. Due to its high prevalence and severe lifelong impairment without effective prevention and pharmacological treatment, this disastrous disease has been prioritized for epidemiological, molecular genetic and biomarker studies in the world.
- To validate the structural and functional connectivity in fronto-temporal, and cortico-striato-thalamic circuitry as effective imaging endophenotypes by demonstrating the differences between ASD probands with CNVs findings (n=22) and their unaffected siblings (n=22), probands without CNVs and known genetic markers related to ASD (n=22) and their unaffected siblings (n=22), and matched neurotypicals (n=22 for each);
- To validate the neuropsychological functioning (particularly set-shifting and executive function) as effective neuropsychological endophenotypes by demonstrating the differences among the six groups;
- To validate the electrophysiological functioning assessed by ERP as effective neurophysiological endophenotypes by demonstrating the differences among the 6 groups; and
- To correlate the data from structural and functional connectivity, neuropsychology, and electrophysiology involving altered brain functioning.
The investigators anticipate that probands with CNVs may have higher level of decreased structural and functional connectivity, impaired ERP and neuropsychological functioning than probands without CNVs. The alterations in the structural and functional connectivity, neurophysiological and neuropsychological functioning would be observed in the unaffected siblings as compared to neurotypical participants. If CNV in the probands is proved to be de novo mutation and their unaffected siblings did not have such results, the likelihood of different functioning between their unaffected siblings and neurotypical participants would be decreased. The genetic dosage (CNV, rare mutation with moderate to large clinical effect, versus multiple common variants with very small effects, with regards to unaffected siblings, and neurotypicals) is anticipated to pose the strongest effects on the microstructural integrity of white matter, followed by functional connectivity and electrophysiological function, and neuropsychological function with the least effect.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01582256
|Contact: Susan Shur-Fen Gau, MD, PhD||886-2-23123456 ext firstname.lastname@example.org|
|National Taiwan Univeristy Hospital||Not yet recruiting|
|Contact: Susan Shur-Fen Gau, MD, PhD 886-2-23123456 ext 66802 email@example.com|
|Principal Investigator: Susan Shur-Fen Gau, MD, PhD|
|Sub-Investigator: Wen-Yih Isaac Tseng, MD, PhD|
|Sub-Investigator: Ming-Hsien Hsieh, MD|
|Principal Investigator:||Susan Shur-Fen Gau, MD, PhD||National Taiwan University Hospital & College of Medicine|