This document describes the creation of a large autism registry using data from multiple health care organizations to study the prevalence, characteristics, treatments, and causes of autism spectrum disorders. The registry will utilize existing electronic health records, surveys, and biosamples to establish a diverse population for investigating autism interventions and genetic/causal factors through rapid identification and enrollment in large studies. Initial results found an overall autism prevalence of 1.2% with variations across sites and more males than females diagnosed.

1. A Diverse Autism Registry for
Etiologic and Effectiveness
Studies: Prevalence and
Demographic Characteristics

2. Background
• Prevalence of Autism Spectrum Disorders (ASD) is
rising
• Current estimate: 1 in 88 children
• Little is known about causes
• Very limited evidence-base on treatments
• Locating, characterizing, and enrolling sufficiently
large and representative ASD patient samples is a
major limitation

3. Objective
• Create a large, comprehensive, and dynamic
ASD registry to enable rapid identification and
enrollment of patients into large-scale studies
investigating treatment interventions as well
as pharmacogenomic and etiologic
hypotheses

4. Participating MHRN sites
• KPNC - Division of Research
• KPSC - Dept. of Research and Evaluation
• KPNW - Center for Health Research
• KPGA - Center for Health
Research, Southeast
• Harvard Pilgrim Health Care

5. Specific Aims
1. Refine and validate case-finding algorithms to
identify children with ASD from EMR and health
claims databases.
2. Harmonize existing data on children and adolescents
with ASD into an ASD registry database.
3. Conduct a web-based survey of parents of children
affected by ASD to obtain information that is not
available in health plan databases.
4. Obtain and store biosamples from registry
participants and their family members for future
studies

6. Diagnostic Validation Process
• Records sampled based on:
- Gender (M/F)
- Age of Child (1-4, 5-11, 12-17)
- Specialty of Provider (specialist/generalist)
- Number of diagnoses (1 dx/2+ dx)
• ASD diagnoses are validated using structured
record review followed by expert review
• Develop algorithm based on findings to assign
reliability score to all ASD diagnoses in EMR

7. Harmonize existing data
• Birth Certificates
• Department of Developmental Services
• Standardized assessments
– ADOS (Autism Diagnostic Observation Scale)
– CBCL (Child Behavior Checklist)
– Mullen (cognitive measure)
– Vineland (adaptive measure)

8. Web-based Survey
• What are the different treatment approaches used by
children with ASD?
• What are the treatment burdens (financial, time) for
families of children with ASD?
• What is the decision process used by families to select
therapies for their children?
• What are parental perceptions of the efficacy of different
treatments
• To what extent do families access and use recommended
treatments for ASD and how is this related to perceptions
of burden and efficacy?

9. Survey Content
• Diagnosis
• Satisfaction with care
• Services and treatments
• Caregiver Strain Questionnaire
• Pediatric Quality of Life Inventory (Peds QL)
• The effect of child’s ASD on parent’s career
• Demographics
• Educational resources for family
• Willingness to participate in future research
• Saliva/Blood samples for future research

10. Treatments and Services
• Provided by a medical or other professional
• Complementary and alternative medical
(CAM) treatments
• Prescription medications
• Vitamins/herbs/supplements
• Provided at school
• Provided at home

11. Preliminary Results Prevalence
• 0-17 year olds
• Data recorded in EMR from 1995-2010
• Health plan members as of December 2010
– Overall Prevalence: 1.2%
Total Total Site 1 Site 2 Site 3 Site 4 Site 5
Children ASD
Cases
2,049,442 23,811 1.5% 1.0% 1.6% 1.1% 0.86%

12. Age Distribution: ASD Population
Age Site 1 Site 2 Site 3 Site 4 Site 5
0-4 7.26% 11.4% 10.1% 12.0% 9.95%
5-9 30.3% 34.3% 34.8% 35.6% 37.3%
10-14 40.7% 34.9% 37.1% 36.0% 35.9%
15-17 21.7% 19.3% 18.0% 16.4% 16.9%

13. Sex Distribution: ASD Population
Overall male to female ratio: 4.29 (range: 3.71-5.11)
Sex Site 1 Site 2 Site 3 Site 4 Site 5
Male 82.1% 81.3% 78.8% 81.4% 83.6%
Female 17.9% 18.7% 21.2% 18.6% 16.4%

14. Summary
• Large and diverse patient population
• Extensive information in electronic medical records
• Survey data
• Genetic material
• Ideal environment for studying variation in
care, comparing effectiveness and cost of treatments
across practice environments, and studying
dissemination of information and health policies
related to autism

15. Acknowledgements
• KPNC • KPGA
– Lisa Croen – Ashli Owen-Smith
– Vincent Yau – Robert Davis
– Marta Lutsky – Janet Cummings
– Yinge Qian • Harvard Pilgrim
• KPNW – Jeanne Madden
– Frances Lynch – Matthew Lakoma
– Kathy Pearson
• KPSC
– Karen Coleman
– Virginia Quinn
– Karen Schenk