SPARK December 2021 update: New phenotypic and genomic data available

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 and genomic data for use in research studies to approved investigators. The data can be accessed through SFARI Base.

Phenotypic data

Phenotypic data from 283,520 individuals enrolled in SPARK are now available, including data from 111,870 individuals with autism spectrum disorder (ASD).

A summary of the available data is listed below:

  • 94,116 children with ASD (under 18 years of age)
  • 17,604 adults with ASD
  • 83,897 males with ASD
  • 27,973 females with ASD
  • 43,518 unaffected siblings
  • 7,074 enrolled twins, triplets and quadruplets
  • 16,951 multiplex families

Detailed medical and developmental history that are available as part of this data release include behavioral questionnaires such as the Developmental Coordination Disorder Questionnaire (DCDQ), the Child Behavior Checklist (CBCL), Repetitive Behavior Scale-Revised (RBS-R), Social Communication Questionnaire (SCQ) and Vineland Adaptive Behavior Scale (Vineland-3). Also available for a subset of ASD adults and children are Intelligence Quotient (IQ) data abstracted from medical records and data collected from research match studies (standardized questionnaires as well as nonstandard measures such as impact from COVID-19). A summary of the available records is listed below:

  • 4,156 clinical IQ records
  • 16,900 Vineland-3 records
  • 5,612 CBCL/6-18 records

This data release also contains a number of additional assessments such as clinical lab reports for every individual with a confirmed and returned genetic result, data from ‘baby siblings’ in multiplex families, an Area Deprivation Index (ADI) for each available proband and a new experimental, imputed cognitive impairment variable created using machine learning for more than 50,000 people in the SPARK database.

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.

Genomic data

Genomic data (whole-exome sequencing and genome-wide genotyping data) are available for 72,262 participants overall (including 11,545 genomes and 61,382 exomes). Of these, 3,227 genomes and 31,641 exomes are from individuals with ASD.

A newly released data set, WGS4, contains 3,684 samples, belonging to 1,053 families (528 quads, 519 trios, 2 duos and 3 single-parent families.) Of these, 1,061 are individuals with ASD, and 2,623 are unaffected individuals.

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, 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.

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

SPARK phenotypic and genomic data are currently being used in at least 100 research studies. These studies are investigating a variety of different topics relevant to autism, including genetic risk factors, sex differences, clinical assessment measures, special interests and beliefs about causes of ASD, as well as the impact of the COVID-19 pandemic on individuals with ASD and their families.

For example, several studies used data from the SPARK cohort to assess the effects of COVID-19 on access to care for persons with ASD and the mental health of parents and children2, 3, 4. Another study developed machine-learning models to predict measures of cognitive challenges from parent-reported online survey, with the goal to provide accurate ‘guesses’ when clinical data on IQ are unavailable5. Other recent studies looked at to validate and refine a questionnaire for assessing interoception (i.e., an individual’s sense of the internal state of their body) in individuals with ASD6 and to compare motor and language delays between individuals with idiopathic ASD and other genetic conditions7. Additional studies investigated the role of the HNRNP gene family in neurodevelopmental disorders8 and de novo and inherited contributions to autism genetic risk9, 10.

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.

Through a new initiative that aims to promote diversity, equity and inclusion in autism research, SPARK is now also providing support to research match studies that recruit Black or African American participants. Funding provides per-person incentive (e-gift cards) for participation in online surveys or remote projects (e.g., phone interview, focus group).

More information about SPARK Research Match Diversity, Equity and Inclusivity request for applications can be found here.

The SPARK Recruitment Process Document provides answers to many frequently asked questions about the research matching program.

Additional information

For more information, please contact collections@sfari.org.

References

  1. SPARK Consortium. Neuron 97, 488-493 (2018) PubMed
  2. Bhat A. Autism Res. 14, 2454-2470 (2021) PubMed
  3. Kalb L.G. et al. Autism Res. 14, 2183-2188 (2021) PubMed
  4. Bal V.H. et al. Autism Res. 14, 1209-1219 (2021) PubMed
  5. Chang S. et al. Autism Res. Epub ahead of print (2021) PubMed
  6. Suzman E. et al. Mol. Autism 12, 42 (2021) PubMed
  7. Wickstrom J. et al. J. Child Psychol. Psychiatry 62, 1297-1307 (2021) PubMed
  8. Gillentine M.A. et al. Genome Med. 13, 63 (2021) PubMed
  9. Zhou X. et al. medRxiv (2021) Preprint
  10. Wilfert A.B. et al. Nat. Genet. 53, 1125-1134 (2021) PubMed
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