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Clinical and Genetic Study of Autism Spectrum Disorder

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 December 2009 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
National Science Council, Taiwan
Information provided by:
National Taiwan University Hospital Identifier:
First received: June 29, 2007
Last updated: December 14, 2009
Last verified: December 2009
The purpose of this study is to prepare instruments for Autism Spectrum Disorder (ASD), to collect clinical, neuropsychological, and genetic data of ASD probands and their family, and to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample


Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Clinical and Genetic Study of Autism Spectrum Disorder

Resource links provided by NLM:

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: 300
Study Start Date: May 2007
Estimated Study Completion Date: January 2010
Detailed Description:

Autism is a pervasive neurodevelopmental disorder with prominent reciprocal social and communication impairment and restricted repetitive behavior or interest. Based on the number of symptoms and functional impairment, autistic disorder, Asperger disorder, and atypical autism (or PDDNOS) are conceptualized as the autism spectrum disorder (ASD). Most recent survey estimated the prevalence of narrow diagnosis of autistic disorder to be around 0.1% to 0.2%, and 0.59 % to 0.63% for ASD, with a four-fold male predominance. Due to high heritability (> 0.9), high family recurrence risk (λ = 60), and severe impairment without effective prevention and treatment available for ASD, this disastrous disease has been prioritized for molecular genetic study from public health perspective. The proposed research is the first systematic approach combining clinical and molecular genetic study of ASD involving multi-sites and three research cores: assessment core (by Gau SS and Wu YY), molecular genetics core (by Chen CH), and data/statistics core (by Gau SS).

The long-term objective of this study is to establish clinical and genetic database of autism and their family for etiology study, exploration of pathogenesis, and developing new treatment. The specific aims are:

  1. to establish the psychometric properties of three Chinese versions of rating scales for ASD: SCQ, SRS, and ABC;
  2. to collect clinical, neuropsychological, and genetic data of ASD probands and their family and
  3. to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample using candidate gene case-control association study design (e.g., Neuroligin gene family, MeCP2 gene, and FOXP2 gene, parent trio and population-based studies) and whole genome linkage analysis for multiplex families.

After well-preparation of instruments, DNA collection procedure, and assessor's training in the first 6 months, we will recruit 40, 170, and 90 ASD families in the first, second, and third year of the project, respectively. The instruments include the ADI-R, ADOS, K-SADS-E, SCQ, SRS, and ABC for measuring autistic psychopathology; WISC-III, MSEL and PPVT for cognitive ability; CPT, CANTAB, and WCST for neuropsychological functioning, and MRI, MRS, and DSI for brain imaging study.

We anticipate the establishment of the database of 300 ASD families, completion of the mutation screening of several candidate genes, and determination of their association with ASD and its intermediate phenotype in our sample. The identification of susceptible genes for ASD would be a major breakthrough in child psychiatry because this revelation would facilitate the scientific diagnosis of autism and as a result, it would shed light on the pathogenesis of autism and contribute to the development of the novel, specific and effective treatment of this devastating disease.


Ages Eligible for Study:   3 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The sample will consist of 300 children and adolescents with ASD, aged 3-18.

Inclusion Criteria:

  1. subjects have a clinical diagnosis of autistic disorder, Asperger disorder, or atypical autism defined by the DSM-IV and ICD-10, which was made by a full-time board-certificated child psychiatrist at the first visit and following visits;
  2. their ages range from 3 to 18 when we conduct the study;
  3. subjects have at least one biological parent;
  4. both parents are Han Chinese; and (5) subjects and their biological parents (and siblings if any) consent to participate in this study for complete phenotype assessments and blood withdraw for genetic study

Exclusion Criteria:

  1. if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.
  2. if they completely cannot cooperate with blood withdrawal, collection of saliva, or buccal swabs.
  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: NCT00494754

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

National Taiwan University Hospital Not yet recruiting
Taipei, Taiwan, 10002
Contact: Susan Shur-Fen Gau, MD, PhD    +886-2-23123456 ext 66802   
Principal Investigator: Susan Shur-Fen Gau, MD, PhD         
Sub-Investigator: Yen-Nan Chiu, MD         
Taipei City Psychiatric Center Not yet recruiting
Taipei, Taiwan
Contact: Liang-Yin Lin, MD    886-9-68955330   
Principal Investigator: Liang-Yin Lin, MD         
Chang Gung Children's Hospital Recruiting
Taoyuan, Taiwan
Contact: Yu-Yu Wu, MD    +886-968372759   
Sub-Investigator: Yu-Su Huang, MD         
Principal Investigator: Yu-Yu Wu, MD         
Taoyuan Mental Hospital Not yet recruiting
Taoyuan, Taiwan
Contact: Shih-Kai Liu, MD    886-9-38537833   
Principal Investigator: Shih-Kai Liu, MD         
Sponsors and Collaborators
National Taiwan University Hospital
National Science Council, Taiwan
Principal Investigator: Susan Shur-Fen Gau, MD, PhD Dept of Psychiatry, National Taiwan University Hospital
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):

Responsible Party: Susan Shur-Fen Gau, National Taiwan University Hospital Identifier: NCT00494754     History of Changes
Other Study ID Numbers: 9561709027
Study First Received: June 29, 2007
Last Updated: December 14, 2009

Keywords provided by National Taiwan University Hospital:
autism spectrum disorder
family genetic study

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders processed this record on September 20, 2017