This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback

Structural Connectivity as Imaging Endophenotypes of Autism Spectrum Disorders

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 January 2012 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
National Science Council, Taiwan
Information provided by (Responsible Party):
National Taiwan University Hospital Identifier:
First received: January 16, 2012
Last updated: January 19, 2012
Last verified: January 2012
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.

Autism Spectrum Disorders

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective

Resource links provided by NLM:

Further study details as provided by National Taiwan University Hospital:

Estimated Enrollment: 80
Study Start Date: October 2010
Estimated Study Completion Date: September 2012
Estimated Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   10 Years to 15 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
High-functioning autism group,family group, and neurotypical group

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
  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: NCT01513629

Contact: Wen-Yih Isaac Tseng, MD, PhD 886-2-23123456 ext 88758
Contact: Shur-Fen Susan Gau, MD, PhD 886-2-23123456 ext 66802

Center for Optoelectronic Biomedicine, National Taiwan University College of Medicine Recruiting
Taipei, Taiwan, 10002
Contact: Wen-Yih I Tseng, MD, PhD    886-2-23123456 ext 88758   
Contact: Shur-Fen S Gau, MD, PhD    886-2-23123456 ext 66802   
Principal Investigator: Wen-Yih I Tseng, MD. PhD         
Sponsors and Collaborators
National Taiwan University Hospital
National Science Council, Taiwan
Principal Investigator: Wen-Yih I Tseng, MD, PhD Center for Optoelectronic Biomedicine, National Taiwan University College of Medicine
  More Information

Responsible Party: National Taiwan University Hospital, Wen-Yih Isaac Tseng, MD, PhD Identifier: NCT01513629     History of Changes
Other Study ID Numbers: 20101122
Study First Received: January 16, 2012
Last Updated: January 19, 2012

Keywords provided by National Taiwan University Hospital:
Autism spectrum disorders
structural connectivity
diffusion spectrum imaging

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders processed this record on August 21, 2017