Structural Connectivity as Imaging Endophenotypes of Autism Spectrum Disorders

September 1, 2021 updated by: Statistical Center, NTUHCTC, National Taiwan University Hospital
Autism spectrum disorders (ASD) is a highly hereditary neuropsychiatric disorder. In children and adolescents worldwide, the prevalence of ASD is estimated at 0.6%. Understanding the biological mechanism of this disorder could potentially facilitate prompt, accurate and personalized therapy. The dysfunction of fronto-temporal circuitry may explain language impairment in ASD. In addition, pieces of evidence suggest that the abnormality of the cortico-striato-thalamic circuitry might be related to social deficits. However, very little is known how changes in these two circuitries are related to variation in genotypes. Previous reports on ASD using magnetic resonance imaging (MRI) have demonstrated alteration of brain structure. Recent advance in neuroimaging has shown that structural connectivity of a specific circuitry is superior to regional analysis in terms of higher penetrance of genetic effects and better account for behavioral variance. Therefore, it is plausible that connectivity imaging may serve as effective endophenotypes that link clinical manifestation (phenotypes) and the biological variables (genotypes). In the past five years, our lab has established world leading diffusion spectrum imaging techniques, and applied the techniques to clinical studies on ASD, schizophrenia, stroke and epilepsy. The clinical experience and technical strengths provide a strong basis for us to extend to imaging genetics, aiming to determine effective endophenotypes of ASD. Therefore, the goal of this project is to validate structural connectivity of fronto-temporal and cortico-striato-thalamic circuitries as effective imaging endophenotypes of ASD. Specifically, the investigators will achieve the goal through a series of validation. First, the investigators will demonstrate that structural connectivities in the two targeted circuitries are indeed different among groups of patients with ASD, unaffected siblings, and neurotypicals. Second, the investigators will demonstrate in neurotypicals and unaffected siblings that the altered structural connectivities related to social and language impairments are indeed different in carriers of risk genes, i.e. CNTNAP2 and SLC25A12, respectively. Last, the investigators will demonstrate in all participants that the altered structural connectivities are associated with the corresponding behavioral variances in social and language function. This two-year project is a cohort study consisting of three groups, namely patient, unaffected siblings, and control groups matched in age, gender and handedness. The patient and sibling groups consist of 20 boys each, age 10-15 years old, and the control group consists of 40 boys. The examination includes behavior assessment (IQ test, neuropsychological and clinical assessment), MRI study (structure MRI and diffusion spectrum imaging for structural connectivity) and genome scan(specifically candidate genes related to language function, i.e. SLC25A12, and to social function, i.e. CNTNAP2). In conclusion, this is the first cohort project on imaging genetics in Taiwan. The success of this project will facilitate the progress of translational neuroscience in Taiwan. The methodology of validating endophenotype will be readily extended to other psychiatric diseases.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
80

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Taiwan
      • Taipei, Taiwan, 10002
        • Center for Optoelectronic Biomedicine, National Taiwan University College of Medicine

Participation Criteria

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Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

6 years to 11 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Probability Sample

Study Population

High-functioning autism group,family group, and neurotypical group

Description

Inclusion Criteria:

  • 20 males, right handed, age 10-15 years old. Diagnosis of high-functioning autism is made according to the DSM-IV and ICD-10 criteria by senior child psychiatrists experienced in autism assessments and treatments. The patients should have full-scale IQ ≧ 80 and no comorbid diseases.
  • 20 unaffected (discordant) male siblings of patients with high-functioning autism
  • 40 healthy school boys without any psychiatric disorders in the 1st and 2nd degree relatives. The patient group (N=20) and a neurotypical group (N=20) are matched in age,gender and handedness. The family group (N=20) and another neurotypical group (N=20) are matched in age, gender and handedness.

Exclusion Criteria:

  • full-scale IQ < 80 and with comorbid diseases
  • large imaging motion artifact

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

Collaborators and Investigators

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Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
National Taiwan University Hospital

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
National Science Council, Taiwan

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Wen-Yih I Tseng, MD, PhD, Center for Optoelectronic Biomedicine, National Taiwan University College of Medicine

Study record dates

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Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 1, 2010

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 30, 2012

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 30, 2012

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 16, 2012

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 19, 2012

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 20, 2012

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 2, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 1, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 201006032R

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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