Phenotypic Data
Phenotypic data is collected for the SPARK cohort to enrich our understanding of the way autism presents, both within and across individuals. These data can be linked with genomic data to understand how genetic changes impact development, symptoms, and behavior. They can also be used to answer other questions about topics such as diagnostic timing and accuracy, symptom presentation, co-occurring conditions, or sex differences.
The phenotyping datasets associated with the SPARK cohort includes both basic demographic variables (age, sex, race, ethnicity) as well as a range of other information covering:
- developmental, family, and medical history
- symptom expression
- adaptive functioning
- co-occurring behavioral and psychiatric conditions
Alongside these measures is additional data about family members, including biological parents and siblings. Information is reported by caregivers for children and dependent adults with autism and self-reported by independent adults with autism. Cognitive and diagnostic testing data, extracted from in-person clinical visits, are available for a subset of the cohort, and many phenotypic datasets with a range of different measures and collected on subsets of the cohort via Research Match are also available.
Phenotypic data from 390,466 individuals (including more than 100,000 individuals with autism) is currently available. Many individuals with phenotypic data also have genomic data available through SFARI Base. Individuals with phenotypic data include:
- Total number of children under 18 with autism: 129,355
- Total number of adults with autism:32,883
- Total number of female probands: 48,771
- Total number of male probands: 113,655
- Total number of unaffected siblings: 54,976
- Total number of enrolled twins, triplets, and quadruplets: 9,331
- Total number of multiplex families: 26,289
A summary of key phenotypic data types is available below:
| Instrument Name and Publisher | Measure Format | Measure Description | Administrations available by role |
|---|---|---|---|
| ADOS ADOS (original version), modules 1-4 ADOS-2, modules T-4 WPS |
Medical record upload by SPARK clinical site staff members | ASD diagnostic test | Available on select ASD participants from select clinical sites |
| Area Deprivation Index Kind AJH, Buckingham W. University of Wisconsin School of Medicine and Public Health, 2019 |
Systematically generated based on parent/guardian/ self-report of physical address |
Rank of socioeconomic disadvantage by neighborhood
Both version 2015 and 2020 are included in the file |
All SPARK participants |
| Adult Self-Report ASEBA 2003 |
Online, self-report | Adaptive functioning, problems, and substance use |
Independent ASD adults 18-59 years Non-ASD adults, 18-59 years |
| Background History Questionnaire-Adult SPARK |
Online, self-report | Demographics, treatment, and social history | Independent ASD adults |
| Background History Questionnaire-Child/Dependent SPARK |
Online, parent/guardian report | Demographics, treatment, and social history |
ASD children Dependent ASD Adults |
| Background History Questionnaire-Sibling SPARK |
Online, parent/guardian report | Demographics, treatment, and social history | Non-ASD siblings < 18 years |
| Basic Medical Screening Questionnaire SPARK |
Online, self or parent/guardian report | Medical history |
All ASD individuals Non-ASD Parents Non-ASD Siblings |
| Child Behavior Checklist for ages 1.5 to 5 years (CBCL/1-5) ASEBA 2000 |
Online, parent/guardian report | Problem behavior | ASD children, 1.5-5 years |
| Child Behavior Checklist for ages 6 to 18 years (CBCL/6-18) ASEBA 2001 |
Online, parent/guardian report | Problem behavior | ASD children, 6-18 years |
| Developmental Coordination Disorder Questionnaire (DCDQ) B.N. Wilson |
Online, parent/guardian report | Motor Delays | ASD children, 5-15 years |
| Intellectual Quotient data (IQ) various |
Medical record upload by SPARK clinical site staff members | IQ scores and classifications from a variety of IQ tests and batteries. Please review the data dictionary for a full list of possible test types | Available on select ASD participants from select clinical sites |
| Predicted Cognitive Impairment SPARK |
Machine learning and human-derived calculations | Machine learning and human-derived calculations of intellectual disability | ASD children and dependent adults with enough data points for the calculation to be used |
| Repetitive Behavior Scale- Revised (RBS-R) Bodfish |
Online, parent/guardian report | Repetitive behaviors |
ASD children, 3 years and older Dependent ASD adults |
| Social Communication Questionnaire (SCQ) – Lifetime WPS 2003 |
Online, parent/guardian report | Screen of ASD markers |
ASD children, 2-17 years 11 months Non-ASD siblings, 2-17 years 11 months |
| Social Responsiveness Scale, Second Edition (SRS-2) – Adult Self Report WPS 2012 |
Online, self-report | Screen of ASD markers |
Independent ASD adults, 19 years and older Non-ASD adults, 19 years and older |
| Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Pearson Assessments 2016 |
Online, parent/guardian report | Adaptive behaviors |
ASD children Dependent ASD adults |
All phenotypic data, both centrally collected through SPARK and shared by Research Match investigators, are available to approved researchers via SFARI Base.