Clinical and Genetic Study of Autism Spectrum Disorder
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|ClinicalTrials.gov Identifier: NCT00494754|
Recruitment Status : Completed
First Posted : July 2, 2007
Last Update Posted : May 7, 2021
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|Condition or disease|
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:
- to establish the psychometric properties of three Chinese versions of rating scales for ASD: SCQ, SRS, and ABC;
- 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 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.
|Study Type :||Observational|
|Actual Enrollment :||300 participants|
|Official Title:||Clinical and Genetic Study of Autism Spectrum Disorder|
|Study Start Date :||May 2007|
|Actual Primary Completion Date :||April 2011|
|Actual Study Completion Date :||April 2011|
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|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|
- 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;
- their ages range from 3 to 18 when we conduct the study;
- subjects have at least one biological parent;
- 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
- if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.
- if they completely cannot cooperate with blood withdrawal, collection of saliva, or buccal swabs.
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 ClinicalTrials.gov identifier (NCT number): NCT00494754
|National Taiwan University Hospital|
|Taipei, Taiwan, 10002|
|Taipei City Psychiatric Center|
|Chang Gung Children's Hospital|
|Taoyuan Mental Hospital|
|Principal Investigator:||Susan Shur-Fen Gau, MD, PhD||Dept of Psychiatry, National Taiwan University Hospital|
|Responsible Party:||National Taiwan University Hospital|
|Other Study ID Numbers:||
|First Posted:||July 2, 2007 Key Record Dates|
|Last Update Posted:||May 7, 2021|
|Last Verified:||May 2021|
autism spectrum disorder
family genetic study
Autism Spectrum Disorder
Child Development Disorders, Pervasive