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Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without CNVs

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified April 2012 by National Taiwan University Hospital.
Recruitment status was:  Not yet recruiting
Information provided by (Responsible Party):
National Taiwan University Hospital Identifier:
First received: April 18, 2012
Last updated: April 19, 2012
Last verified: April 2012
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).


Study Type: Observational
Official Title: Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without Copy Number Variation and Their Unaffected Siblings

Further study details as provided by National Taiwan University Hospital:

Biospecimen Retention:   Samples With DNA
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.

Estimated Enrollment: 132
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

Detailed Description:

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.

Specific aims:

  1. 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);
  2. To validate the neuropsychological functioning (particularly set-shifting and executive function) as effective neuropsychological endophenotypes by demonstrating the differences among the six groups;
  3. To validate the electrophysiological functioning assessed by ERP as effective neurophysiological endophenotypes by demonstrating the differences among the 6 groups; and
  4. 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.


Ages Eligible for Study:   10 Years to 25 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The sample (6 groups) consists of 44 individuals with clinical diagnosis of ASD confirmed by the ADI-R and ADOS assessments (22 with CNVs and 22 without CNVs), their unaffected siblings (n=22 for each group) and age-, sex-, handedness-, and IQ-matched school comparison groups (22 for each group).

Inclusion Criteria:

  1. subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV and ICD-10 criteria, which was made by a board-certificated child psychiatrists at the first visit and following visits (probands only, exclusion criteria for unaffected siblings and school controls);
  2. their ages range from 10 to 25 (because all the probands with CNV aged > 10);
  3. both parents are Han Chinese; and
  4. subjects and their parents consent to participate in this study for complete phenotype assessments (3 visits of assessments).

Exclusion Criteria:

  • if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01582256

Contact: Susan Shur-Fen Gau, MD, PhD 886-2-23123456 ext 66802

National Taiwan Univeristy Hospital Not yet recruiting
Taipei, Taiwan
Contact: Susan Shur-Fen Gau, MD, PhD    886-2-23123456 ext 66802   
Principal Investigator: Susan Shur-Fen Gau, MD, PhD         
Sub-Investigator: Wen-Yih Isaac Tseng, MD, PhD         
Sub-Investigator: Ming-Hsien Hsieh, MD         
Sponsors and Collaborators
National Taiwan University Hospital
Principal Investigator: Susan Shur-Fen Gau, MD, PhD National Taiwan University Hospital & College of Medicine
  More Information

Responsible Party: National Taiwan University Hospital, Susan Shur-Fen Gau Identifier: NCT01582256     History of Changes
Other Study ID Numbers: 201201006RIB
Study First Received: April 18, 2012
Last Updated: April 19, 2012 processed this record on September 21, 2017