The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that phenotypic data from 230,936 individuals enrolled in SPARK (Simons Foundation Powering Autism Research for Knowledge)¹ are now available to approved researchers via SFARI Base. This includes data from more than 90,000 individuals with autism spectrum disorder (ASD).

A summary of the available data is listed below:

• 33,146 trios (individuals with ASD and both biological parents)
• 77,017 children (under 18 years of age) with ASD
• 13,762 adults with ASD
• 69,170 males with ASD
• 21,745 females with ASD
• 35,167 unaffected siblings
• 5,771 enrolled twins, triplets and quadruplets
• 12,678 multiplex families

Detailed medical and developmental history, as well as behavioral questionnaires, such as the Developmental Coordination Disorder Questionnaire (DCDQ), Repetitive Behavior Scale-Revised (RBS-R) and Social Communication Questionnaire (SCQ) are available as part of this data release. Note that not all individuals have completed all questionnaires. An overview of the subgroups for whom phenotypic data is currently available, as well as the demographics of the SPARK sample, can be found here.

Additional data from the Vineland Adaptive Behavior Scale (Vineland-3) and IQ data (abstracted from clinical records on a select number of participants) are expected to be released later this year.

“We are extremely grateful to the thousands of individuals with ASD and their families who are participating in SPARK and the significant amount of time they have invested in completing medical history and behavioral surveys online,” says SPARK Scientific Director and SFARI Senior Scientist Pamela Feliciano. “We hope that the release of this new data set will facilitate many different avenues of autism research and ultimately improve outcomes for those in the autism community.”

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 disorders, and there is no publication embargo associated with these 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.

Are any other SPARK data (besides phenotypic data) currently available?

Genomic data (whole-exome sequencing and genome-wide genotyping data) for 27,615 participants (including 5,279 simplex families with 2,785 unaffected siblings and 2,529 parent-child duos) are currently available via SFARI Base.

Genomic data for an additional 19,000 participants, including whole-genome sequencing data from approximately 650 quads, are expected to be available later this year.

What types of research projects are SPARK phenotypic data currently being used for?

SPARK phenotypic data are currently being used in at least 100 research studies. These studies are investigating a variety of different topics relevant to ASD, including genetic and phenotypic correlations, comorbidities, sex differences, motor skills and repetitive behaviors.

For example, one study used SPARK assessments of social communication and repetitive behaviors (as reported via the SCQ and RBS-R, respectively) to validate the Autism Impact Measure (AIM) as a caregiver report of ASD symptom frequency and impact². Another recent study examined medical and psychiatric comorbidities in adults with ASD in the SPARK cohort³. Data from the DCDQ has also been used to show that a large proportion of children with ASD who are enrolled in SPARK are at risk for a motor impairment and that this risk persists into adolescence⁴.

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 matching 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].