The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that SPARK (Simons Foundation Powering Autism Research for Knowledge)1 has released new phenotypic data for use in research studies. Approved investigators can request the data via SFARI Base.
Phenotypic data
Phenotypic data from 328,973 individuals enrolled in SPARK are now available, including data from 132,138 individuals with autism spectrum disorder (ASD).
Summary of the cohort:
- Total number of adults with ASD: 22,811
- Total number of children under 18 with ASD: 109,161*
- Total number of female probands: 34,874
- Total number of male probands: 97,264
- Total number of unaffected siblings: 49,674
- Total number of enrolled twins, triplets, and quadruplets: 8,092
- Total number of multiplex families: 20,686
(* 166 age unknown)
Data include the following standardized behavioral measures:
- Adult Self Report (ASR)
- Child Behavior Checklist (CBCL)
- Developmental Coordination Disorder Questionnaire (DCDQ)
- Repetitive Behavior Scale-Revised (RBS-R)
- Social Communication Questionnaire (SCQ)
- Social Responsiveness Scale-2 Adult Self Report (SRS-2)
- Vineland Adaptive Behavior Scales (Vineland-3)
- From medical records: ADOS (Autism Diagnostic Observation Schedule) and IQ
Other available data:
- Clinical ASD and intellectual disability (ID) diagnostic confirmations from medical records for a subset of individuals
- Basic medical screening
- Co-morbid psychiatric history and developmental history
- Self-reported and clinically confirmed genetic diagnoses
- Calculated ID estimates
- Area Deprivation Index
An overview of demographics and core characteristics of the SPARK sample can be found here.
Who can use the data?
The data are available for use by all approved researchers, regardless of SFARI funding. Research projects are not restricted to autism or other neurodevelopmental conditions. There is a six-month embargo on the genomic data, but there is no embargo on phenotypic data.
How can the data be accessed?
Researchers can log in to SFARI Base and apply to use the data. The application will be reviewed by SFARI staff, and once approved, researchers will be provided with information on how to download the data.
Researchers who have previously applied and been approved to access SPARK phenotypic data (i.e., from an earlier SPARK data release) will automatically have access to this latest data release. Simply log in to SFARI Base to view and download the latest data set.
What types of research projects are SPARK phenotypic and genomic data being used for?
SPARK phenotypic and genomic data are being used in more than 100 research studies. These studies are investigating a variety of different topics relevant to autism, including genetic risk factors, sex differences, and new assessments. Studies have contributed normative developmental data in autism2, and awareness of the mental health needs of autistic adults3. A large number of studies used data from the SPARK cohort for new insights into the genetics of autism4-6, including the discovery of new de novo variants, and inherited variants of moderate effect7.
Can investigators recruit SPARK families for new research studies?
In addition to accessing phenotypic and genomic data, researchers can submit an application via SFARI Base to recruit SPARK participants into investigator-initiated research studies through the SPARK Research Match program.
Applications are reviewed by a standing committee on a quarterly basis (application deadlines are March 31, June 30, September 30 and December 31). Researchers will receive further information about how to contact SPARK families once their application is approved.
The SPARK Recruitment Process Document provides answers to many frequently asked questions about the research matching program.
Additional information
For more information, please contact [email protected].
References
- SPARK Consortium. Neuron 97, 488-493 (2018) PubMed
- Kuo S.S. et al. JAMA Pediatrics 176, 915-923 (2022) PubMed
- Jadav N. and Bal V. H., Autism Res. 15, 2112-2125 (2022) PubMed
- Wang T. et al. Proc. Natl. Acad. Sci. U. S. A. 119, e2203491119 (2022) PubMed
- Fu J.M. et al. Nat. Genet. 54, 1320-1331 (2022) PubMed
- Warrier V. et al. Nat. Genet. 54, 1293-1304 (2022) PubMed
- Zhou X. et al. Nat. Genet. 54, 1305-1319 (2022) PubMed
- SPARK December 2021 update: New phenotypic and genomic data available
- Study using SPARK data uncovers new inherited genetic risks for autism
- SPARK: Five years accelerating autism gene discovery and research
- SFARI announces recipients of SPARK Research Match DEI initiative
- Two studies using SPARK’s research matching program attest to its effectiveness for rapid and large-scale testing of research questions
- SPARK pilot study identifies novel candidate autism risk genes
