“Is All Autism Local?" the Value of Functional Regional Registries and Data Systems

Background:  The inherent, profound genetic and behavioral heterogeneity of ASD highlights the potential value, and likely necessity, of evaluating and following extremely large samples of children and families with ASD over time.  Numerous research initiatives have attempted to acquire larger samples either through consortiums or accumulating larger numbers from many different sites on similar protocols (AGRE, AGP, ATN, SSC).  More recently, online registries have been developed (IAN) and implemented, yielding very large numbers of registrants, across a geographical range, based primarily on self-report information.  Despite successes, such registries face significant challenges related to infrastructure maintenance, variability and reliance on parent report, as well as cost-efficient methods for detailed and rigorous longitudinal follow-up.   

Objectives:  The Vanderbilt Kennedy Center / Treatment and Research Institute for Autism Spectrum Disorders (VKC/TRIAD) regional autism registry was initiated as an attempt to create a large-scale functional regional database capable of providing and following large numbers of well-indexed families in future investigations, as well as an efficient system for linking unique families across varied protocols.  Specifically, the registry was designed to utilize resources from our local CTSA (Vanderbilt Institute for Clinical and Translational Research) and IDDRC (VKC) to offer simple and fluid entry to families participating across all affiliated autism networks and ATN, BSRC, SSC, clinical programs of the Vanderbilt Children’s Hospital Division of Developmental Medicine.

Methods:  The regional autism registry is an online database developed using REDCap, a secure web-based application which allows for initial data entry to occur across the university, individuals to be followed longitudinally, and specific surveys to be created and electronically sent out to targeted participants.  Communication about projects and IRB consent for future research can be presented in person across programs, as well generated and dispersed electronically, allowing for efficient re-contacting for both the researcher and families.  Unique identifiers (both NDAR GUIDs and local GUIDs) are generated for all registry participants with the capabilities of connecting and communicating across local and national database structures. 

Results:  From September 2010 to October 2011, 1290 families consented to have their clinical data added to the registry and to be contacted for future research. This number includes 965 children with ASD and 113 “baby” siblings. The database has aided in targeted recruitment for studies in genetics, neurology, imaging, engineering, special education and psychiatry, representing 10 investigative teams during the past year.  All research studies requesting targeted recruitment make a commitment to add updated clinical information as well as any new families back into the database.  The database continues to grow at a rate of 10 -15 new individuals per week.  Tracking of recontacting yield and percentages are under way.  In addition, a formal annual recontacting initiative is also in process.

Conclusions:  Given concerns about diagnostic heterogeneity and accuracy in self-report databases, as well as resource limitations for consortium projects in terms of effectively indexing and recontacting families, functional regional registries may provide an important vehicle for advancing our understanding of the causes and optimal treatments of ASD over time.