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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01582256
Recruitment Status : Completed
First Posted : April 20, 2012
Last Update Posted : September 2, 2021
Information provided by (Responsible Party):
Statistical Center, NTUHCTC, National Taiwan University Hospital

Brief Summary:
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).

Condition or disease

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.

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Study Type : Observational
Actual Enrollment : 132 participants
Observational Model: Other
Time Perspective: Other
Official Title: Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without Copy Number Variation and Their Unaffected Siblings
Actual Study Start Date : August 1, 2012
Actual Primary Completion Date : July 31, 2015
Actual Study Completion Date : July 31, 2015

Unaffected siblings of ASD+CNVs
Unaffected siblings of ASD-CNVs
Neurotypicals for ASD+CNVs comparisons
Neurotypicals for ASD-CNVs comparisons

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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01582256

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National Taiwan Univeristy Hospital
Taipei, Taiwan
Sponsors and Collaborators
National Taiwan University Hospital
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Principal Investigator: Susan Shur-Fen Gau, MD, PhD National Taiwan University Hospital & College of Medicine
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Statistical Center, NTUHCTC, Susan Shur-Fen Gau, National Taiwan University Hospital Identifier: NCT01582256    
Other Study ID Numbers: 201201006RIB
First Posted: April 20, 2012    Key Record Dates
Last Update Posted: September 2, 2021
Last Verified: September 2021
Additional relevant MeSH terms:
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Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders