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Investigating Neuroimaging Endophenotypes for Autism Spectrum Disorder

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: NCT02720588
Recruitment Status : Unknown
Verified March 2016 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
First Posted : March 28, 2016
Last Update Posted : March 28, 2016
Information provided by (Responsible Party):
National Taiwan University Hospital

Brief Summary:
Specific Aims: This study aims to examine the hypothesis that individuals with Autism spectrum disorder (ASD) and their unaffected siblings shared alterations in gray and white matter volume and their associated intrinsic functional connectivity, to build upon limited literature about neuroimaging endophenotypes of ASD. The investigators also aim to test whether these shared differences are associated with behavioral autistic traits.

Condition or disease
Autism Spectrum Disorder

Detailed Description:

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for genes with a definitive role in its etiology has remained elusive. Deconstructing the disorder with endophenotypic approach should boost the statistical power of genetic studies and clarify the pathophysiology of autism. Neuroimaging data provides evidence for atypical trajectories of brain growth in ASD, which result in differences in neuroanatomy and connectivity in the widespread neural systems. As genetic factors are responsible for a significant amount of variation in neuroanatomy and intrinsic functional connectivity, shared alterations in brain morphology and associated functional connectivity between individuals with ASD and their unaffected siblings is likely a useful endophenotype. Nonetheless, such multi-modal approach has never been tested in study on endophenotypic markers for ASD. The study aims to fill in the gap.

The investigators plan to recruit 90 participants (30 adults with ASD, 30 unaffected siblings, and 30 healthy controls), without current and past history of any systemic physical illness, neither any major psychiatric disorder other than ASD. All the participants will receive psychiatric interviews (the Chinese version of the Autism Diagnostic Interview-Revised, ADI-R; the Chinese Version of the Kiddie Epidemiologic version of the Schedule for Affective Disorders and Schizophrenia, K-SADS-E). They will receive the Wechsler Adult Intelligence Scale-3rd edition(WAIS-III) first to ensure their full-scale IQ greater than 70. The MRI assessments (T1 imaging, single-echo echo planar imaging(EPI) resting-state fMRI) will be subsequently arranged within 2 weeks after psychiatric/neuropsychological assessments.

The investigators anticipate that this study (1) will be the first report in Taiwan to report neuroimaging endophenotypes for ASD; (2) will be the first report in the world on the shared structural and functional connective differences by ASD and their unaffected siblings; (3) will provide further evidence about the mechanism underpinning the broad autism phenotype.

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Study Type : Observational
Estimated Enrollment : 90 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Investigating Neuroimaging Endophenotypes for Autism Spectrum Disorder
Study Start Date : January 2016
Estimated Primary Completion Date : December 2016

Resource links provided by the National Library of Medicine

ASD group
Subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV criteria
Sibling group
Sex-matched unaffected siblings of ASD probands
TD group
Typically developing controls without lifetime ASD or a family history of ASD

Primary Outcome Measures :
  1. Psychiatric Interview [ Time Frame: 1 hour ]
    Subjects will be interviewed by Chinese Version of the Kiddie Epidemiologic version of the Schedule for Affective Disorders and Schizophrenia (K-SADS-E)

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 35 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The sample consists of 30 adults with ASD, and 30 sex-matched unaffected siblings, and 30 healthy volunteers.

Inclusion Criteria:

1. Subjects who have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV criteria

Exclusion Criteria:

  1. Systemic medical illness
  2. Current symptoms or lifetime history of DSM-5 diagnosis of mood disorder, any psychotic disorder, substance use disorder, learning disorder, anxiety disorder, claustrophobia, obsessive compulsive disorder, or mental retardation.
  3. With neurodegenerative disorder, epilepsy, involuntary movement disorder, congenital metabolic disorder, brain tumor, history of severe head trauma, and history of craniotomy;
  4. Full-scale IQ < 70.

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): NCT02720588

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Contact: Hsiang-Yuan Lin, MD 886-2-23123456 ext 67991

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National Taiwan Univeristy Hospital Recruiting
Taipei, Taiwan
Contact: Susan Shur-Fen Gau, MD, PhD    886-2-23123456 ext 66802   
Sponsors and Collaborators
National Taiwan University Hospital
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Principal Investigator: Hsiang-Yuan Lin, MD Dept of Psychiatry, National Taiwan University Hospital
Study Director: Susan Shur-Fen Gau, MD, PhD National Taiwan University Hospital & College of Medicine
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Responsible Party: National Taiwan University Hospital Identifier: NCT02720588    
Other Study ID Numbers: 201505142RINC
First Posted: March 28, 2016    Key Record Dates
Last Update Posted: March 28, 2016
Last Verified: March 2016
Additional relevant MeSH terms:
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Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders