Pilot Project to Assess Web-Based Family Recruitment for Autism Genetics Studies

Principal Investigator: Paul Law

The overall goal of this project is to demonstrate that large-scale DNA collection is feasible and cost-effective.

  • Aim 1: Demonstrate the accuracy of a rapid phenotyping paradigm in which affected status is established by a) parent-report Social Communication Questionnaire (SCQ); b) teacher-report Social Responsiveness Scale (SRS); and c) medical record documentation of Autism Spectrum Disorder (ASD) diagnosis among verbal children in the Interactive Autism Network (IAN).
  • Aim 2: Establish the mechanism for participation and ascertain the rate of participation of families enrolled in a volunteer disease registry (in this case IAN) to participate in a DNA collection protocol affected probands, and one discordant sibling, if available.
  • Aim 3: Complete the acquisition of DNA samples from 3000 autism-affected individuals and approximately 1,500 unaffected siblings.

Phase 1:

125 affected children will be selected based on SCQ scores entered into IAN for one 4-hour clinic visit where they will be tested using the ADI-R, ADOS, and Vineland II (45 at KKI, 40 at UCLA, 40 at Washington University). A teacher will completed the teacher-report SRS for each child. Parents will provide documentation of a primary diagnosis of an autism spectrum disorder. De-identified data will be entered into the Internet System for Assessing Autistic Children (ISAAC).

Children will provide a saliva sample (optional) using a home-collection kit during or after the clinic visit and blood sample (optional) at the time of the clinic visit or at LabCorp. This will allow the research team to (a) assess the relative benefit of genomic DNA collection from saliva and blood and (b) determine the best collection approach and develop instructions for home saliva collection for children. [The instructions that are developed for home saliva collected will be submitted to the JHM IRB prior to their being sent out to families.] De-identified saliva and blood samples from all sites will be sent to UCLA for analysis and storage.

IAN will perform the initial recruitment, but separate consent forms will be used at each of the study sites (KKI, UCLA, and Washington University).

Phase 2:

3,000 affected children registered in IAN and an estimated 1,500 unaffected siblings will provide DNA through their preferred method or methods (saliva collection tube and/or saliva cheek sponge and/or blood draw). De-identified samples will be sent to UCLA for analysis and storage.

De-indentified data and sample will be stored indefinitely for future research.