Research Publications

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Research Publications

Date Revised: April 18, 2022

Listed below are the scientific publications made possible by your participation in SPARK. Researchers use SPARK data and SPARK Research Match to investigate a wide variety of topics from genetic changes to school services.

A major part of the research process is sharing this knowledge by publishing these findings in peer-reviewed scientific journals. Peer review is a process by which scientific research papers are reviewed by other scientists and published only after they meet certain standards. Most of the articles, below, appear in peer-reviewed journals. We also list preprints. Preprints help scientists get their findings out quickly to other scientists so that they can learn from and comment on the research. Preprints have not gone through the peer-review process.

Click on a year to see the articles published in that year. Peer-reviewed articles link to abstracts that contain brief descriptions. Some have links to related SPARK reports. Preprints link to the articles.

2022 Publications

2022 SPARK Research Match Publications

Measuring subjective quality of life in autistic adults with the PROMIS global–10: Psychometric study and development of an autism-specific scoring method
Williams, Z. J., Cascio, C., J., & Woynaroski, T. G.
Autism, April 2022

Social support and links to quality of life among middle-aged and older autistic adults
Charlton, R. A., McQuaid, G. A., & Wallace, G. L.
Autism, April 2022

Cortical activation during cooperative joint actions and competition in children with and without an autism spectrum condition (ASC): an fNIRS study
Su, W. C., Culotta, M., Tsuzuki, D., & Bhat, A.
Scientific Reports, March 2022

Effect of children’s autism spectrum disorder severity on family strain and sleep quality: a cross-sectional online survey in the U.S.
Durán-Pacheco, G., Silkey, M., Johnson, M., Liu, C., Clinch, S., Law, K., & Loss, G.
Journal of Autism and Developmental Disorders, February 2022

Current and lifetime somatic symptom burden among transition-aged autistic young adults
Williams, Z. J., & Gotham, K. O.
Autism Research, January 2022

2022 SPARK Data Publications

A further study of relations between motor impairment and social communication, cognitive, language, functional impairments, and repetitive behavior severity in children with ASD using the SPARK study dataset
Bhat, A. N., Boulton, A. J., & Tulsky, D. S.
Autism Research, March 2022

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p
Weiner, D. J., Ling, E., Erdin, S., Tai, D. J C., Yadav, et. al.
medRxiv, March 2022

Comorbidities in autism spectrum disorder and their etiologies
Khachadourian, V., Mahjani, B., Sandin, S., Kolevzon, A., Buxbaum, J. D., Reichenberg, A., & Janecka, M.
medRxiv, March 2022

Autism in gifted youth is associated with low processing speed and high verbal ability
Michaelson, J. J., Doobay, A., Casten, L., Schabilion, K., Foley-Nicpon, M., Nickl-Jockschat, T., Abel, T., & Assouline, S.
medRxiv, March 2022

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning
Tan, R. & Shen, Y.
bioRxiv, March 2022

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits
Arenella, M., Cadby, G., De Witte, W., Jones, R. M., Whitehouse, A. J., Moses, E. K., Fornito, A., Bellgrove, M. A., Hawi, Z., Johnson, B., Tiego, J., Buitelaar, J. K., Kiemeney, L. A., Poelmans, G., & Bralten, J.
Autism, February 2022

Enhancing the discriminatory power of ADHD and autism spectrum disorder polygenic scores in clinical and non-clinical samples
Li, J. J., He, Q., Wang, Z., & Lu, Q.
medRxiv, February 2022

Utilization of a Best Practice Alert (BPA) at point-of-care for recruitment into a US-based autism research study
Simon, A. R., Ahmed, K. L., Limon, D. L., Duhon, G. F., Marzano, G., & Goin-Kochel, R. P.
Journal of Autism and Developmental Disorders, January 2022

Use of a Best Practice Alert (BPA) to increase diversity within a US-based autism research cohort
Duhon, G. F., Simon, A. R., Limon, D. L., Ahmed, K. L., Marzano, G., & Goin-Kochel, R. P.
Journal of Autism and Developmental Disorders, January 2022

2021 Publications

2021 SPARK Research Match Publications

The impact of COVID-19 on the mental health and wellbeing of caregivers of autistic children and youth: A scoping review
Lee, V., Albaum, C., Tablon Modica, P., Ahmad, F., Gorter, J. W., Khanlou, N., McMorris, C., Lai, J., Harrison, C., Hedley, T., Johnston, P., Putterman, C., Spoelstra, M., & Weiss, J. A.
Autism Research, December 2021

Job loss predicts worsening depressive symptoms for young adults with autism: A COVID-19 natural experiment
Taylor, J. L., Adams, R. E., Pezzimenti, F., Zheng, S., & Bishop, S. L.
Autism Research, October 2021

Investigating the structure of trait rumination in autistic adults: A network analysis
Williams, Z. J., McKenney, E. E., & Gotham, K. O.
Autism, October 2021

Analysis of the SPARK study COVID-19 parent survey: Early impact of the pandemic on access to services, child/parent mental health, and benefits of online services
Bhat, A.
Autism Research, September 2021

Improving the Measurement of Alexithymia in Autistic Adults: A Psychometric Investigation of the 20-item Toronto Alexithymia Scale and Generation of a General Alexithymia Factor Score Using Item Response Theory
Williams, Z. J., & Gotham, K. O.
Molecular Autism, August 2021

“I Don’t Do Much Without Researching Things Myself”: A Mixed Methods Study Exploring the Role of Parent Health Literacy in Autism Services Use for Young Children
Lindly, O. J., Cabral, J., Mohammed, R., Garber, I., Mistry, K. B., & Kuhlthau, K. A.
Journal of Autism and Developmental Disorders, August 2021

Psychological distress among caregivers raising a child with autism spectrum disorder during the COVID-19 pandemic
Kalb, L. G., Badillo-Goicoechea, E., Holingue, C., Riehm, K. E., Thrul, J., Stuart, E. A., Smail, E. J., Law, K., White-Lehman, C., & Fallin, D.
Autism Research, August 2021

Assessing general and autism relevant quality of life in autistic adults: A psychometric investigation using item response theory
Williams Z. J., Gotham K. O.
Autism Research, August 2021

Camouflaging in autism spectrum disorder: Examining the roles of sex, gender identity, and diagnostic timing
McQuaid, G. A., Lee, N. R., & Wallace, G. L.
Autism, August 2021

Self-reported parkinsonism features in older autistic adults: A descriptive study
Geurts, H. M., McQuaid, G. A., Begeer, S., & Wallace, G. L.
Autism, June 2021

Psychometric validation and refinement of the Interoception Sensory Questionnaire (ISQ) in adolescents and adults on the autism spectrum
Suzman, E., Williams, Z. J., Feldman, J. I., Failla, M., Cascio, C. J., Wallace, M. T., Niarchou, M., Sutcliffe, J. S., Wodka, E., & Woynaroski, T. G.
Molecular Autism, June 2021

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts
McKenna, B. G., Huang, Y., Vervier, K., Hofammann, D., Cafferata, M., Al-Momani, S., Lowenthal, F., Zhang, A., Koh, J. Y., Thenuwara, S., Brueggeman, L., Bahl, E., Koomar, T., Pottschmidt, N., Kalmus, T., Casten, L., Thomas, T. R., & Michaelson, J. J.
Molecular Autism, June 2021

Estimating the prevalence and genetic risk mechanisms of ARFID in a large autism cohort
Koomar, T., Thomas, T.R., Pottschmidt, N.R., Lutter, M., & Michaelson, J.J.
Frontiers in Psychiatry, June 2021

Depression in independent young adults on the autism spectrum: Demographic characteristics, service use, and barriers
Zheng, S., Adams, R., Taylor, J. L., Pezzimenti, F., & Bishop, S. L.
Autism: The International Journal of Research and Practice, April 2021

Perceived helpfulness of depression treatments among young adults with autism
Zheng, S., Taylor, J. L., Adams, R., Pezzimenti, F., & Bishop, S. L.
Autism Research, April 2021

Ten weeks in: COVID-19-related distress in adults with autism spectrum disorder
Adams, R. E., Zheng, S., Taylor, J. L., & Bishop, S. L.
Autism: The International Journal of Research and Practice, April 2021

Associations between social camouflaging and internalizing symptoms in autistic and non-autistic adolescents
Bernardin, C. J., Lewis, T., Bell, D., & Kanne, S.
Autism: The International Journal of Research and Practice, March 2021

“You must become a chameleon to survive”: adolescent experiences of camouflaging
Bernardin, C. J., Mason, E., Lewis, T., & Kanne, S.
Journal of Autism and Developmental Disorders, February 2021

Early pandemic experiences of autistic adults: predictors of psychological distress
Bal, V. H., Wilkinson, E., White, L. C., Law, J. K., SPARK Consortium, Feliciano, P., & Chung, W. K.
Autism Research, February 2021

Brief report: Impact of COVID-19 on individuals with ASD and their caregivers: A perspective from the SPARK cohort
White, L. C., Law, J. K., Daniels, A. M., Toroney, J., Vernoia, B., Xiao, S., SPARK Consortium, Feliciano, P., & Chung, W. K.
Journal of Autism and Developmental Disorders, January 2021

2021 SPARK Data Publications

Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders
Baker, B. H., Zhang, S., Simon, J. M. McLarnan, S. M., Chung, W. K., & Pearson, B. L.
bioRxiv, December 2021

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., et. al.
medRxiv, December 2021

Sex differences in autism: examining intrinsic and extrinsic factors in children and adolescents enrolled in a national ASD cohort
Dillon, E. F., Kanne, S., Landa, R. J., Annett, R., Bernier, R., Bradley, C., Carpenter, L., Kim, S. H., Parish-Morris, J., Schultz, R., Wodka, E. L., & SPARK Consortium
Journal of Autism and Developmental Disorders, December 2021

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh-Karoleski, C., Krishnan, U. S., Khlevner, J., De, A., Zygmunt, A., Crombleholme, T., Lim, F. Y., Needelman, H., Cusick, R. A., Mychaliska, G. B., Warner, B. W., Wagner, A. J., Danko, M. E., Chung, D., … Chung, W. K.
American Journal of Human Genetics, October 2021

Imputing cognitive impairment in SPARK, a large autism cohort
Shu, C., Green Snyder, L., Shen, Y., Chung, W. K., & SPARK Consortium
Autism Research, October 2021

SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Zhang, Y., Lu, Q., Ye, Y., Huang, K., Liu, W., Wu, Y., Zhong, X., Li, B., Yu, Z., Travers, B. G., Werling, D. M., Li, J. J., & Zhao, H.
Genome Biology, September 2021

Integrated gene analyses of de novo mutations from 46,612 trios with autism and developmental disorders
Wang, T., Kim, C., Bakken, T. E., Gillentine, M. A., Henning, B., Mao, Y., Gilissen, C., The SPARK Consortium, Nowakowski, T. J., & Eichler, E. E.
bioRxiv, September 2021

Clinical autism subscales have common genetic liability that is heritable, pleiotropic, and generalizable to the general population
Thomas, T. R., Koomar, T., Casten, L., Tener, A., Bahl, E., & Michaelson, J. J.
medRxiv, September 2021

“Guilt by association” is not competitive with genetic association for identifying autism risk genes
Gunning, M., & Pavlidis, P.
Scientific Reports, August 2021

Genetic correlates of phenotypic heterogeneity in autism
Warrier, V., Zhang, X. Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, et. al.
medRxiv, August 2021

Advancing methodologies to improve RRB outcome measures in autism research: Evaluation of the RBS-R
Sturm, A., Huang, S., & Kuhfeld, M.
Psychological Assessment, August 2021

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries. Journal of child psychology and psychiatry, and allied disciplines
Wickstrom, J., Farmer, C., Green Snyder, L., Mitz, A. R., Sanders, S. J., Bishop, S., & Thurm, A.
Journal of Child Psychology and Psychiatry, August 2021

Recent ultra-rare inherited variants implicate new autism candidate risk genes
Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., Winterkorn, L. H., Evani, U. S., Byrska-Bishop, M., Earl, R. K., Bernier, R. A., SPARK Consortium, Zody, M. C., & Eichler, E. E.
Nature Genetics, August 2021

Co-occurring attention-deficit/hyperactivity disorder and anxiety disorders differentially affect males and females with autism
Wodka, E. L., Parish-Morris, J., Annett, R. D., Carpenter, L., Dillon, E., Michaelson, J., Kim, S. H., Landa, R., SPARK Consortium, & Kanne, S.
The Clinical Neuropsychologist, July 2021

Validation of autism diagnosis and clinical data in the SPARK cohort
Fombonne, E., Coppola, L., Mastel, S., & O’Roak, B.
Journal of Autism and Developmental Disorders, July 2021

Interpreting polygenic score effects in sibling analysis
Fletcher, J., Wu, Y., Li, T., & Lu, Q.
bioRxiv, July 2021

Moderators of age of diagnosis in > 20,000 females with autism in two large US studies
Kavanaugh, B.C., Schremp, C. A., Jones, R. N., Best, C. R., Sheinkopf, S. J., & Morrow, E. M.
Journal of Autism and Developmental Disorders, May 2021

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu, N., Swietlik, E. M., Welch, C. L., Pauciulo, M. W., Hagen, J. J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K. A., Martin, J. M., Treacy, C. M., Rosenzweig, E. B., Krishnan, U., Coleman, A. W., Gonzaga-Jauregui, C., Lawrie, A., Trembath, R. C., Wilkins, M. R., … Chung, W. K.
Genome Medicine, May 2021

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B., Vissers, L., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., … Eichler, E. E.
Genome Medicine, April 2021

Milestone development in genetic conditions from SFARI registries
Wickstrom, J., Farmer, C., Green Snyder, L., Mitz, A.R., Sanders, S., Bishop, S., & Thurm, A.

medRxiv, April 2021

The female protective effect against autism spectrum disorder
Wigdor, E., Weiner, D. J., Grove, J., Fu, J. M., Thompson, W. K., Carey, C. E., Baya, N., van der Merwe, C., Walters, R. K., Satterstrom, F. K., Palmer, D. S., Rosengren, A., Bybjerg-Grauholm, J., iPSYCH Consortium, Hougaard, D. M., Mortensen, P. B., Daly, M. J., Talkowski, M. E., Sanders, S. J., Bishop, S. L., Børglum, A. D., & Robinson, E. B.
medRxiv, March 2021

Towards a gene-level map of resilience to genetic variants associated with autism
Rolland, T., Cliquet, F., Anney, R.J.L., Traut, N., Mathieu, A., Huguet, G., Leblond, C.S., Douard, E., Amsellem, F., Malesys, S., Maruani, A., Toro, R., Packer, A., Chung, W., Jacquemont, S., Delorme, R., & Bourgeron, T.
medRxiv, February 2021

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts
McKenna, B.G., Huang, Y., Vervier, K., Hofamman, D., Cafferata, M., Al-Momani, S., Lowenthal, F., Zhang, A., Koh, J.-Y., Thenuwara, S., Brueggeman, L., Bahl, E., Koomar, T., Pottschmidt, N., Kalmus, T., Casten, L., Thomas, T.R., & Michaelson, J.
medRxiv, February 2021

Large mosaic copy number variations confer autism risk
Sherman, M. A., Rodin, R. E., Genovese, G., Dias, C., Barton, A. R., Mukamel, R. E., Berger, B., Park, P. J., Walsh, C. A., & Loh, P. R.
Nature Neuroscience, February 2021

The relationship between developmental coordination disorder and concurrent deficits in social communication and repetitive behaviors among children with autism spectrum disorder
Ketcheson, L. R., Pitchford, E. A., & Wentz, C. F.
Autism Research, January 2021

Motor impairment increases in children with autism spectrum disorder as a function of social communication, cognitive and functional impairment, repetitive behavior severity, and comorbid diagnoses: a SPARK study report
Bhat A. N.
Autism Research, January 2021

2020 Publications

2020 SPARK Research Match Publications

Social camouflaging in autistic and neurotypical adolescents: a pilot study of differences by sex and diagnosis
Jorgenson, C., Lewis, T., Rose, C., & Kanne, S.
Journal of Autism and Developmental Disorders, December 2020

Characterization of special interests in autism spectrum disorder: A brief review and pilot study using the Special Interests Survey
Nowell, K. P., Bernardin, C. J., Brown, C., & Kanne, S.
Journal of Autism and Developmental Disorders, October 2020

Measuring depression in autistic adults: psychometric validation of the Beck Depression Inventory-II
Williams, Z. J., Everaert, J., & Gotham, K. O.
Assessment, August 2020

Beliefs about causes of autism and vaccine hesitancy among parents of children with autism spectrum disorder
Goin-Kochel, R. P., Fombonne, E., Mire, S. S., Minard, C. G., Sahni, L. C., Cunningham, R. M., & Boom, J. A.
Vaccine, July 2020

Vaccine hesitancy and attributions for autism among racially and ethnically diverse groups of parents of children with autism spectrum disorder: a pilot study
Chang, J., & Kochel, R.
Autism Research, July 2020

2020 SPARK Data Publications

Psychiatric and medical profiles of autistic adults in the SPARK cohort
Fombonne, E., Green Snyder, L., Daniels, A., Feliciano, P., Chung, W., & SPARK Consortium
Journal of Autism and Developmental Disorders, October 2020

Gamete simulation improves polygenic transmission disequilibrium analysis
Chen, J., You, J., Zhao, Z., Ni, Z., Huang, K., Wu, Y., Fletcher, J.M., Lu, Q.
bioRxiv, October 2020

Estimating genetic nurture with summary statistics of multi-generational genome-wide association studies
Wu, Y., Zhong, X., Lin, Y., Zhao, Z., Chen, J., Zheng, B., Li, J.J., Fletcher, J.M., Lu, Q
bioRxiv, October 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., … Eichler, E. E.
Nature Communications, October 2020

Evaluating two common strategies for research participant recruitment Into autism studies: observational study
Ahmed, K. L., Simon, A. R., Dempsey, J. R., Samaco, R. C., & Goin-Kochel, R. P.
Journal of medical internet research, September 2020

Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism
Matoba, N., Liang, D., Sun, H., Aygün, N., McAfee, J. C., Davis, J. E., Raffield, L. M., Qian, H., Piven, J., Li, Y., Kosuri, S., Won, H., & Stein, J. L.
Translational Psychiatry, August 2020

Local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Zhang, Y., Lu, Q., Ye, Y., Huang, K., Liu, W., Wu Y., Zhong, X., Li, B., Yu, Z., Travers, B.G., Werling, D., Li, J.J., Zhao ,H
bioRxiv, May 2020

Insufficient evidence for “autism-specific” genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., Zoghbi, H. Y., Martin, C. L., & Ledbetter, D. H.
American Journal of Human Genetics, May 2020

N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells
Venkatasubramani, J. P., Subramanyam, P., Pal, R., Reddy, B. K., Srinivasan, D. J., Chattarji, S., Iossifov, I., Klann, E., & Bhattacharya, A.
Neurobiology of Learning and Memory, May 2020

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH
Zhu, N., Swietlik, E.M., Welch, C.L., Pauciulo, M.W., Hagen, J.J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K.A., Rosenzweig, E., Krishnan, U., Coleman, A.W., Gonzaga,-Juaregiu C., Lawrie, A., Trembath, R.C., Wilkins, M.R., Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research – Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Morrell, N.W., Shen, Y., Gräf S., Nichols, W.C., Chung, W.
bioRxiv, May 2020

Is motor impairment in autism spectrum disorder distinct from developmental coordination disorder? A report from the SPARK study
Bhat A. N.
Physical Therapy, April 2020

Forecasting risk gene discovery in autism with machine learning and genome-scale data
Brueggeman, L., Koomar, T., & Michaelson, J. J.
Scientific Reports, March 2020

Beliefs in vaccine as causes of autism among SPARK cohort caregivers
Fombonne, E., Goin-Kochel, R. P., O’Roak, B. J., & SPARK Consortium
Vaccine, February 2020

2019 Publications

2019 SPARK Research Match Publications

Psychometric validation of the Autism Impact Measure (AIM)
Houghton, R., Monz, B., Law, K., Loss, G., Le Scouiller, S., de Vries, F., & Willgoss, T.
Journal of Autism and Developmental Disorders, June 2019

Treatment patterns in children with autism in the United States
Monz, B. U., Houghton, R., Law, K., & Loss, G.
Autism Research, March 2019

2019 SPARK Data Publications

Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder
Huang, K., Wu, Y., Shin, J., Zheng, Y., Siahpirani, A.F., Lin, Y., Ni, Z., Chen, J., You, J., Keles, S., Wang, D., Roy, S., Lu, Q.
bioRxiv, November 2019

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., Sabo, A., SPARK Consortium, Gibbs, R. A., Eichler, E. E., O’Roak, B. J., Michaelson, J. J., Volfovsky, N., Shen, Y., & Chung, W. K.
NPJ Genomic Medicine, August 2019

2018 Publications

2018 SPARK Data Publications

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK Consortium
Neuron, February 2018