Maira Tafolla

All Publications

• Expanding the autism evidence base: Strategies to increase participant representation. Autism : the international journal of research and practice Tafolla, M., Lord, C. 2026; 30 (5): 1380-1390

  Abstract

  There is a lack of representation of racially diverse individuals who are multilingual from low-income households in autism research. This calls into question the generalizability of research findings derived from predominantly White, English-speaking samples. In this article, we bring forth an important argument about why we as an autism field should work to expand representation in research samples. We also discuss strategies that can be used to work toward this goal. We detail the recruitment and retention of 94 Spanish-English bilingual Latinx (primarily Mexican and Central American) families from low-income households across a large urban city and its surrounding communities in the United States for an assessment validation study. We use the method of this study as an example of how to engage and include underrepresented populations in autism research, describing the efforts that were implemented to engage families and community-based organizations serving this population. We conclude the report by summarizing culturally sensitive strategies researchers can use to engage populations of different races and ethnicities from low-income households in their own research studies, in hopes of increasing representation in the autism science field and ensuring that research findings are applicable across populations, including those who have been historically underrepresented.Lay AbstractIndividuals of different races and identities from low-income households and their families are not adequately represented in research. This makes it difficult to know whether autism research findings apply to traditionally underserved individuals of color, since participants included in studies are usually White and speak English. We use our own study, where we successfully recruited 94 Spanish-English bilingual participants who are from Mexico and Central America but are currently living in the United States in low-income households for an assessment study, as an example to describe the strategies that were helpful to recruit participants with these sociodemographic characteristics. We end the article by discussing strategies that are culturally appropriate for researchers to consider when working with autistic populations of color who are from predominantly low-income households and their families.

  View details for DOI 10.1177/13623613251393505

  View details for PubMedID 41332364

• Bridging Languages, Broadening Access: Examining an Observation-Based Autism Assessment with a Latinx Sample. Journal of autism and developmental disorders Tafolla, M., Lerner, J., Kim, S. H., Lord, C. 2026

  Abstract

  Standardized observational tools are part of the gold standard for autism assessment, leading to the most reliable diagnoses. Widely used tools are often costly, require extensive training, and lack validation for use with multilingual and low-income populations, factors that contribute to prolonged diagnostic wait times.This study examined psychometric properties of the Brief Observation of Symptoms of Autism (BOSA), a 12- to 14-min semi-structured observation designed as an autism assessment tool for both virtual and in-person administration. We evaluated the BOSA's sensitivity and specificity in both English and Spanish within a Latinx, predominantly low-income sample (N = 98), among other psychometric properties.Findings indicate that the BOSA is a promising tool that can be used as a screener or as a part of a comprehensive evaluation administered across languages, settings (home, clinic, community), and interactants (caregivers, clinicians) for individuals with limited verbal abilities, though further research is needed to optimize its use with more verbally fluent populations.These results add to the literature, positioning the BOSA as a promising, affordable, and adaptable tool for improving timely access to high-quality autism assessments in culturally and linguistically diverse, underserved communities. Additional research is needed to assess its usefulness in different circumstances while aiming to increase ease and efficiency of coding. The BOSA's suitability for use by non-specialists in intervention and school-based settings could help reduce diagnostic delays that disproportionately affect families of color from non-English-speaking households, making its optimization an important future goal.

  View details for DOI 10.1007/s10803-026-07237-z

  View details for PubMedID 41661526

  View details for PubMedCentralID 8500365

• Respite Support From Adolescence to Adulthood in Families of People With Neurodevelopmental Disorders. Intellectual and developmental disabilities Tafolla, M., Schiltz, H., Lord, C. 2025; 63 (5): 414-427

  Abstract

  Respite is a priority for caregivers of people with neurodevelopmental disabilities across the lifespan. The present study aimed to characterize respite availability and frequency of use among 126 caregivers of young people with neurodevelopmental disabilities (from ages 16-22) using an ongoing longitudinal sample. Results indicated that the availability of respite support was greater and more consistent over time for caregivers of those with lower verbal abilities compared to those with higher verbal abilities. On average, the frequency of respite use from household members declined over time, with overall higher frequency of use reported by caregivers of those with a lower verbal intelligence quotient (VIQ). Our findings indicate that respite remains an important resource for caregivers of young people with neurodevelopmental disabilities well into adulthood, particularly for those caring for higher needs individuals.

  View details for DOI 10.1352/1934-9556-63.5.414

  View details for PubMedID 41016722

• Autism Assessment with English-Spanish Bilingual Individuals in the United States. Journal of autism and developmental disorders Tafolla, M., Benrey, N., Rosen, N., Lerner, J., Lord, C. 2025

  Abstract

  There is limited clinical guidance on best autism assessment practices for bilingual individuals. This study aimed to examine whether Spanish-English bilingual participants display varying levels of autism symptoms on the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) when it is administered in English compared to Spanish, and whether these differences are associated with participants' dominant language. Furthermore, we explored how often participants met the ADOS-2 autism cutoff scores on both the Spanish and English administrations and compared percentages. We then used generalized linear models with random effects to examine whether the language of ADOS-2 administration (English or Spanish) predicted autism severity scores, depending on participants' Spanish exposure or usage [1-99%], while controlling for sex, verbal IQ, and autism diagnosis.A total of 94 community-referred English-Spanish bilingual participants (age range = 1.5 years- 44.6 years) from predominantly low-income households were included, all with existing diagnoses of autism or other neurodevelopmental or mental health conditions.We found that, on average, the ADOS-2 yields similar severity scores when it is administered in Spanish and English with bilingual individuals. Additionally, language of the ADOS-2 administration does not predict severity scores regardless of percentage of Spanish use or exposure.We discuss how findings from this study can inform clinical practice in autism assessment for bilingual individuals, while acknowledging that language is only one aspect of culturally sensitive assessment and must be considered when working with bilingual families.

  View details for DOI 10.1007/s10803-025-06965-y

  View details for PubMedID 40681722

  View details for PubMedCentralID 7012666

• Autism Spectrum Disorder Across the Lifespan. Annual review of clinical psychology Tafolla, M., Singer, H., Lord, C. 2025; 21 (1): 193-220

  Abstract

  Autism is a neurodevelopmental condition that affects individuals worldwide throughout their lives. Copious advances in research have enhanced our understanding of autism significantly since Dr. Leo Kanner's first description of the condition in 1943. This review aims to provide an overview of our current knowledge of autism, examining its manifestations across age, race, gender, and co-occurring conditions (e.g., intellectual disability) from childhood through adulthood. We also focus on the identification and diagnosis of autism, long-term outcomes with a spotlight on adulthood, and appropriate supports and interventions across different developmental stages for autistic individuals and their families. We stress the importance of a lifespan perspective that considers the evolving needs of individuals with autism as they age, and we highlight the role of longitudinal research.

  View details for DOI 10.1146/annurev-clinpsy-081423-031110

  View details for PubMedID 39836874

• Longitudinal Analyses of Mental Health in Autistic Individuals: A Systematic Review. Brain sciences Tafolla, M., Lord, C. 2024; 14 (10)

  Abstract

  Co-occurring mental health conditions affect autistic individuals at high rates, impacting their well-being and quality of life. Mental health conditions are often appropriate treatment targets that can improve the lives of autistic individuals. Because of this, there is growing interest in predictors of mental health and behavioral outcomes. Given the rapidly evolving evidence base and growing literature using longitudinal cohorts, it is unclear which predictors of symptoms of anxiety and depression are consistent, and which are not. Additionally, it is difficult to deduce which predictors of mental health symptoms at a given time also predict change over time. This can be partially due to the different statistical approaches that are implemented, including trajectory vs. non-trajectory methodologies.We conducted a systematic review to evaluate how non-trajectory and trajectory analyses inform our knowledge of how symptoms of anxiety and depression change over time. Additionally, we aimed to identify important predictors of change and later anxiety and depressive symptoms in autistic individuals.There is variability in symptoms of anxiety and depression in autistic individuals. Adaptive skills arose as significant predictors of change and of later symptoms of both anxiety and depression. Peer relationships in school age seem to be particularly important in predicting later symptoms of depression.This review provides evidence that there are different trajectories and different patterns of mental health symptoms over the lifespan, providing further evidence that autism is a developmental condition that changes over time in different ways for different people. Implications and future directions are further discussed.

  View details for DOI 10.3390/brainsci14101033

  View details for PubMedID 39452045

  View details for PubMedCentralID PMC11506022

• Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals. Journal of community genetics Tafolla, M., Amador, R., Oyeyemi, M. J., Algaze, Z., Pandey, J., Goin-Kochel, R. P., Sarver, D. E., Gulsrud, A. 2024; 15 (5): 559-572

  Abstract

  Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.

  View details for DOI 10.1007/s12687-024-00724-9

  View details for PubMedID 39136857

  View details for PubMedCentralID PMC11549258

• Return of genetic research results in 21,532 individuals with autism. Genetics in medicine : official journal of the American College of Medical Genetics Wright, J. R., Astrovskaya, I., Barns, S. D., Goler, A., Zhou, X., Shu, C., Snyder, L. G., Han, B., Shen, Y., Volfovsky, N., Hall, J. B., Feliciano, P., Chung, W. K. 2024; 26 (10): 101202

  Abstract

  The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings.We present results from microarray genotyping and exome sequencing of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical Genetics criteria) copy-number variants, chromosomal aneuploidies, and variants in genes with strong evidence of association with autism and intellectual disability.We identified 1903 returnable LP/P variants in 1861 individuals with autism (8.6%). 89.5% of these variants were not known to participants. The diagnostic genetic result was returned to 589 participants (53% of those contacted). Features associated with a higher probability of having a returnable result include cognitive and medically complex features, being female, being White (versus non-White) and being diagnosed more than 20 years ago. We also find results among autistics across the spectrum, as well as in transmitting parents with neuropsychiatric features but no autism diagnosis.SPARK offers an opportunity to assess returnable results among autistic people who have not been ascertained clinically. SPARK also provides practical experience returning genetic results for a behavioral condition at a large scale.

  View details for DOI 10.1016/j.gim.2024.101202

  View details for PubMedID 38958063

• Predictors of Attrition in a Randomized Trial of a Social Communication Intervention for Infant-Toddlers at Risk for Autism. Journal of autism and developmental disorders Sterrett, K., Magaña, M. T., Gulsrud, A., Paparella, T., Kasari, C. 2023; 53 (8): 3023-3033

  Abstract

  Addressing factors that make it more likely for families to attrite from early intervention trials will allow researchers to ensure that families reap the full benefits of participation. This study was an analysis of 78 children (Mage = 18.38 months, SD = 5.78) at risk for autism participating in a university-based randomized controlled trial of two 8-week long early intervention programs. Overall, attrition through 8-weeks was low, approximately 13%, however by the one-year follow-up attrition rates were approximately 50%. The most consistent predictor of attrition was the distance that families had to travel to the university. These data highlight the importance of providing services and support (e.g., financial and logistic) during follow-up to families to maximize their participation. Clincaltrials.gov Identifier: NCT01874327, 6/11/2013.

  View details for DOI 10.1007/s10803-022-05616-w

  View details for PubMedID 35678946

  View details for PubMedCentralID 8118238

• Perceived negative impact of caregiving demands in parents of individuals with autism spectrum disorders from 9 to 25 years of age RESEARCH IN AUTISM SPECTRUM DISORDERS Christopher, K., Tafolla, M., Sterrett, K., Elias, R., Lord, C. 2023; 106

  View details for DOI 10.1016/j.rasd.2023.102203

  View details for Web of Science ID 001034488000001

• Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature genetics Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., Brueggeman, L., Thomas, T. R., Marchenko, O., Fleisch, C., Barns, S. D., Snyder, L. G., Han, B., Chang, T. S., Turner, T. N., Harvey, W. T., Nishida, A., O'Roak, B. J., Geschwind, D. H., SPARK Consortium, Michaelson, J. J., Volfovsky, N., Eichler, E. E., Shen, Y., Chung, W. K., Adams, A., Amatya, A., Andrus, A., Bashar, A., Berman, A., Brown, A., Camba, A., Gulsrud, A. C., Krentz, A. D., Shocklee, A. D., Esler, A., Lash, A. E., Fanta, A., Fatemi, A., Fish, A., Goler, A., Gonzalez, A., Gutierrez, A. J., Hardan, A., Hess, A., Hirshman, A., Holbrook, A., Ace, A. J., Griswold, A. J., Gruber, A. J., Jarratt, A., Jelinek, A., Jorgenson, A., Juarez, A. P., Kim, A., Kitaygorodsky, A., Luo, A., Rachubinski, A. L., Wainer, A. L., Daniels, A. M., Mankar, A., Mason, A., Miceli, A., Milliken, A., Morales-Lara, A., Stephens, A. N., Nguyen, A. N., Nicholson, A., Paolicelli, A. M., McKenzie, A. P., Gupta, A. R., Raven, A., Rhea, A., Simon, A., Soucy, A., Swanson, A., Sziklay, A., Tallbull, A., Tesng, A., Ward, A., Zick, A., Hilscher, B. A., Bell, B., Enright, B., Robertson, B. E., Hauf, B., Jensen, B., Lobisi, B., Vernoia, B. M., Schwind, B., VanMetre, B., Erickson, C. A., Sullivan, C. A., Albright, C., Anglo, C., Buescher, C., Bradley, C. C., Campo-Soria, C., Cohen, C., Colombi, C., Diggins, C., Edmonson, C., Rice, C. E., Fassler, C., Gray, C., Gunter, C., Walston, C. H., Klaiman, C., Leonczyk, C., Martin, C. L., Lord, C., Taylor, C. M., McCarthy, C., Ochoa-Lubinoff, C., Ortiz, C., Pierre, C., Rosenberg, C. R., Rigby, C., Roche, C., Shrier, C., Smith, C., Van Wade, C., White-Lehman, C., Zaro, C., Zha, C., Bentley, D., Correa, D., Sarver, D. E., Giancarla, D., Amaral, D. G., Howes, D., Istephanous, D., Coury, D. L., Li, D., Limon, D., Limpoco, D., Phillips, D., Rambeck, D., Rojas, D., Srishyla, D., Stamps, D., Montes, D. V., Cho, D., Cho, D., Fox, E. A., Bahl, E., Berry-Kravis, E., Blank, E., Bower, E., Brooks, E., Courchesne, E., Dillon, E., Doyle, E., Given, E., Grimes, E., Jones, E., Fombonne, E. J., Kryszak, E., Wodka, E. L., Lamarche, E., Lampert, E., Butter, E. M., O'Connor, E., Ocampo, E., Orrick, E., Perez, E., Ruzzo, E., Singer, E., Matthews, E. T., Pedapati, E. V., Fazal, F., Miller, F. K., Aberbach, G., Baraghoshi, G., Duhon, G., Hooks, G., Fischer, G. J., Marzano, G., Schoonover, G., Dichter, G. S., Tiede, G., Cottrell, H., Kaplan, H. E., Ghina, H., Hutter, H., Koene, H., Schneider, H. L., Lechniak, H., Li, H., Morotti, H., Qi, H., Richardson, H., Zaydens, H., Zhang, H., Zhao, H., Arriaga, I., Tso, I. F., Acampado, J., Gerdts, J. A., Beeson, J., Brown, J., Comitre, J., Cordova, J., Delaporte, J., Cubells, J. F., Harris, J. F., Gong, J., Gunderson, J., Hernandez, J., Judge, J., Jurayj, J., Law, J. K., Manoharan, J., Montezuma, J., Neely, J., Orobio, J., Pandey, J., Piven, J., Polanco, J., Polite, J., Rosewater, J., Scherr, J., Sutcliffe, J. S., McCracken, J. T., Tjernagel, J., Toroney, J., Veenstra-Vanderweele, J., Wang, J., Ahlers, K., Schweers, K. A., Baalman, K., Beard, K., Callahan, K., Coleman, K., Fitzgerald, K. D., Dent, K., Diehl, K., Gonring, K., Pawlowski, K. G., Hirst, K., Pierce, K. L., Murillo, K., Murray, K., Nowell, K., O'Brien, K., Pama, K., Real, K., Singer, K., Smith, K., Stephenson, K., Tsai, K., Abbeduto, L., Cartner, L. A., Beeson, L., Carpenter, L., Casten, L., Coppola, L., Cordiero, L., DeMarco, L., Pacheco, L. D., Corzo, L. F., Shulman, L. H., Walsh, L. K., Lesher, L., Herbert, L. M., Prock, L. M., Malloch, L., Mann, L., Grosvenor, L. P., Simon, L., Soorya, L. V., Wasserburg, L., Yeh, L., Huang-Storms, L. Y., Alessandri, M., Popp, M. A., Baer, M., Beckwith, M., Casseus, M., Coughlin, M., Currin, M., Cutri, M., Mallardi, M. D., DuBois, M., Dunlevy, M., Butler, M. E., Frayne, M., Gwynette, M. F., Ghaziuddin, M., Haley, M., Heyman, M., Hojlo, M., Jordy, M., Morrier, M. J., Kowanda, M., Koza, M., Lopez, M., McTaggart, M., Norris, M., Hale, M. N., O'Neil, M., Printen, M., Rayos, M., Sabiha, M., Sahin, M., Sarris, M., Shir, M., Siegel, M., Steele, M., Sweeney, M., Tafolla, M., Valicenti-McDermott, M., Verdi, M., Dennis, M. Y., Alvarez, N., Bardett, N., Berger, N., Calderon, N., Decius, N., Gonzalez, N., Harris, N., Lawson, N., Lillie, N., Lo, N., Long, N., Russo-Ponsaran, N. M., Madi, N., Mccoy, N., Nagpal, N., Rodriguez, N., Russell, N., Shah, N., Takahashi, N., Targalia, N., Newman, O., Ousley, O. Y., Heydemann, P., Manning, P., Carbone, P. S., Bernier, R. A., Gordon, R. A., Shaffer, R. C., Annett, R. D., Clark, R. D., Jou, R., Landa, R. J., Earl, R. K., Libove, R., Marini, R., Doan, R. N., Goin-Kochel, R. P., Rana, R., Remington, R., Shikov, R., Schultz, R. T., Aberle, S., Birdwell, S., Boland, S., Booker, S., Carpenter, S., Chintalapalli, S., Conyers, S., D'Ambrosi, S., Eldred, S., Francis, S., Ganesan, S., Hepburn, S., Horner, S., Hunter, S., Brewster, S. J., Lee, S. J., Jacob, S., Jean, S., Hyun, S., Kramer, S., Friedman, S. L., Licona, S., Littlefield, S., Kanne, S. M., Mastel, S., Mathai, S., Melnyk, S., Michaels, S., Mohiuddin, S., Palmer, S., Plate, S., Qiu, S., Randall, S., Sandhu, S., Santangelo, S., Shah, S., Skinner, S., Thompson, S., White, S., White, S., Xiao, S., Xu, S., Xu, S., Chen, T., Greene, T., Ho, T., Ibanez, T., Koomar, T., Pramparo, T., Rutter, T., Shaikh, T., Tran, T., Yu, T. W., Galbraith, V., Gazestani, V., Myers, V. J., Ranganathan, V., Singh, V., Weaver, W. C., CaI, W., Chin, W., Yang, W. S., Choi, Y. B., Warren, Z. E. 2022

  Abstract

  To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P<2.5*10-6), including five new risk genes (NAV3, ITSN1, MARK2, SCAF1 and HNRNPUL2). The association of NAV3 with autism risk is primarily driven by rare inherited loss-of-function (LoF) variants, with an estimated relative risk of 4, consistent with moderate effect. Autistic individuals with LoF variants in the four moderate-risk genes (NAV3, ITSN1, SCAF1 and HNRNPUL2; n=95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes (CHD8, SCN2A, ADNP, FOXP1 and SHANK3) (59% vs 88%, P=1.9*10-6). Power calculations suggest that much larger numbers of autism cases are needed to identify additional moderate-risk genes.

  View details for DOI 10.1038/s41588-022-01148-2

  View details for PubMedID 35982159

• Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort. Journal of autism and developmental disorders White, L. C., Law, J. K., Daniels, A. M., Toroney, J., Vernoia, B., Xiao, S., Feliciano, P., Chung, W. K. 2021; 51 (10): 3766-3773

  Abstract

  The impact of the 2019 coronavirus pandemic (COVID-19) in the United States is unprecedented, with unknown implications for the autism community. We surveyed 3502 parents/caregivers of individuals with an autism spectrum disorder (ASD) enrolled in Simons Powering Autism Research for Knowledge (SPARK) and found that most individuals with ASD experienced significant, ongoing disruptions to therapies. While some services were adapted to telehealth format, most participants were not receiving such services at follow-up, and those who were reported minimal benefit. Children under age five had the most severely disrupted services and lowest reported benefit of telehealth adaptation. Caregivers also reported worsening ASD symptoms and moderate family distress. Strategies to support the ASD community should be immediately developed and implemented.

  View details for DOI 10.1007/s10803-020-04816-6

  View details for PubMedID 33387233

  View details for PubMedCentralID PMC7775834

• Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 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., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B., Vandeweyer, G., Van Dijck, A., Van der Aa, N., McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., SPARK Consortium, Nordenskjold, M., Romano, C., Peeters, H., Bernier, R. A., Gecz, J., Xia, K., Eichler, E. E., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michaelson, J. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L., Eichler, E. E., Siegel, M., Abbeduto, L., Amaral, D. G., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., McCracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Wang, T., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., DeMarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., McKenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J. 2020; 11 (1): 5398

  Abstract

  An amendment to this paper has been published and can be accessed via a link at the top of the paper.

  View details for DOI 10.1038/s41467-020-19289-5

  View details for PubMedID 33087701

• Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. Journal of autism and developmental disorders Fombonne, E., Green Snyder, L., Daniels, A., Feliciano, P., Chung, W., SPARK Consortium, Abbeduto, L., Aberbach, G., Acampado, J., Ace, A. J., Albright, C., Alessandri, M., Amaral, D. G., Amatya, A., Anglo, C., Annett, R. D., Arriaga, I., Ashley, R., Astrovskaya, I., Baalman, K., Baer, M., Bahl, E., Balasubramanian, A., Baraghoshi, G., Bardett, N., Barnard, R. A., Bashar, A., Beaudet, A., Beckwith, M., Beeson, L., Bentley, D., Bernier, R. A., Berry-Kravis, E., Boland, S., Booker, S., Bradley, C., Brewster, S. J., Brooks, E., Brown, M., Brueggeman, L., Butler, M. E., Butter, E. M., Callahan, K., Camba, A., Carbone, P., Carpenter, L., Carpenter, S., Carriero, N., Cartner, L. A., Casten, L., Chatha, A. S., Chin, W., Chintalapalli, S., Cho, D., Chung, W. K., Clark, R. D., Cohen, C., Coleman, K., Columbi, C., Coppola, L., Courchesne, E., Cubells, J. F., Currin, M. H., Daniels, A. M., David, G., DeMarco, L., Dennis, M. Y., Dent, K., Dichter, G. S., Ding, Y., Dinh, H., Doan, R., Doddapaneni, H., Eichler, E. E., Eldred, S., Eng, C., Erickson, C. A., Esler, A., Fatemi, A., Feliciano, P., Fischer, G., Fish, A., Fisk, I., Fombonne, E. J., Foster, M., Fox, E. A., Francis, S., Friedman, S. L., Ganesan, S., Garrett, M., Gazestani, V., Geisheker, M. R., Gerdts, J. A., Geschwind, D. H., Ghaziuddin, M., Gibbs, R. A., Goin-Kochel, R. P., Gonzalez, N., Goudreau, L., Griswold, A. J., Grosvenor, L. P., Gruber, A. J., Gulsrud, A. C., Gunderson, J., Gunter, C., Gupta, A., Gutierrez, A., Hale, M. N., Haley, M., Hall, J. B., Hamer, K. E., Han, B., Hanna, N., Hardan, A., Harkins, C., Harrington, G., Harris, J., Harris, N., Hauf, B., Hayes, C., Heerwagen, K., Hepburn, S. L., Herbert, L. M., Heyman, M., Higgins, L., Hilscher, B. A., Hofammann, E., Hojlo, M., Horner, S., Hsieh, A., Hu, J., Huang-Storms, L. Y., Hunter, S., Hutter, H., Istephanous, D., Jacob, S., Jaramillo, N., Jelinek, A., Jensen, W., Jones, M., Jordy, M., Jorgenson, A., Jou, R., Pablo Juarez, A., Judge, J., Jurayj, J., Kalmus, T., Kanne, S., Kaplan, H. E., Kasparson, L., Kent, M., Kim, S. H., Kitaygorodsky, A., Koene, H., Koomar, T., Korchina, V., Krentz, A. D., Schneider, H. L., Lamarche, E., Lampert, E., Landa, R. J., Lash, A. E., Law, J. K., Lawson, N., Layman, K., Lechniak, H., Lee, S., Lee, S. J., Coury, D. L., Martin, C. L., Lesher, L., Li, H., Li, D., Lillie, N., Liu, X., Lopez, M., Lord, C., Lowe, K., Mallardi, M. D., Manning, P., Manoharan, J., Marini, R., Martin, C., Marzano, G., Mason, A., Mastel, S., Matthews, E. T., McCracken, J. T., McKenzie, A. P., Miceli, A., Michaelson, J. J., Milliken, A., Mohiuddin, S., Momin, Z., Morrier, M. J., Mostofsky, S., Murali, S., Muzny, D., Myers, V. J., Neely, J., Nessner, C., Nicholson, A., Niederhouser, M., O'Brien, K., O'Connor, E., O'Neil, M., O'Roak, B. J., Ochoa-Lubinoff, C., Orobio, J., Orrick, L., Ortiz, C., Ousley, O. Y., Pacheco, L. D., Palmer, S., Pandey, J., Paolicelli, A. M., Pawlowski, K. G., Pierce, K. L., Piven, J., Plate, S., Polanco, J., Popp, M., Pottschmidt, N., Pramparo, T., Prock, L. M., Qi, H., Qiu, S., Rachubinski, A. L., Rajbhandari, K., Rana, R., Ranganathan, V., Raymond, L., Remington, R., Rice, C. E., Rigby, C., Robertson, B. E., Rodriguez, N., Rodriguez, B., Roeder, K., Rosenberg, C. R., Russo-Ponsaran, N., Ruzzo, E., Sabo, A., Sahin, M., Salomatov, A., Sandhu, S., Santangelo, S., Sarver, D. E., Scherr, J., Schultz, R. T., Schweers, K. A., Shaffer, R., Shah, S., Shaikh, T., Shen, Y., Shocklee, A. D., Shulman, L., Siegel, M., Simon, A. R., Simon, L., Singh, V., Skinner, S., Smith, C. J., Smith, K., Green Snyder, L., Soorya, L. V., Soucy, A., Stamps, D., Steele, M., Stephens, A. N., Stock, C. M., Sullivan, C., Sutcliffe, J. S., Sutcliffe, J. S., Swanson, A., Tafolla, M., Takahashi, N., Taylor, C., Thomas, C., Thomas, T., Thompson, S., Tjernagel, J., Turner, T. N., Valicenti-McDermott, M., Van Metre, B., Van Wade, C., Veenstra-Vanderweele, J., Verdi, M., Vernoia, B. M., Volfovsky, N., Wallace, J., Walston, C. H., Wang, J., Wang, T., Warren, Z., Wasserburg, L., White, S., Casey White-Lehman, L., Wodka, E. L., Xu, S., Yang, W. S., Yinger, M., Youngkin, S., Yu, T., Zang, L., Zaydens, H., Zhang, H., Zhao, H., Zhou, X., Zick, A. 2020

  Abstract

  This study examined lifetime medical and psychiatric morbidity reported by caregivers of 2917 autistic adults participating in the US research cohort SPARK. Participants were 78.4% male, 47.3% had intellectual disability, and 32.1% had persistent language impairments. Childhood language disorders (59.7%), speech/articulation problems (32.8%), sleep (39.4%) and eating problems (29.4%), motor delays (22.8%) and history of seizure (15.5%) were the most frequently reported clinical features. Over two thirds (67.2%) had been diagnosed with at least one psychiatric disorder (anxiety disorders: 41.1%; ADHD: 38.7%). Compared to verbally fluent participants, those with language impairments had lower frequencies of almost all psychiatric disorders. Female sex and older age were associated with higher medical and psychiatric morbidity.

  View details for DOI 10.1007/s10803-020-04414-6

  View details for PubMedID 32096123

• Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine Fombonne, E., Goin-Kochel, R. P., O'Roak, B. J. 2020; 38 (7): 1794-1803

  Abstract

  Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunization schedule.To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) developmental and clinical profiles of their children.Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, developmental regression, co-occurring psychiatric disorders, seizures, and current levels of functioning.Participants with ASD were 80.4% male with a mean age of 8.1 years (SD = 4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced developmental regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes.One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child developmental features (regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.

  View details for DOI 10.1016/j.vaccine.2019.12.026

  View details for PubMedID 31924427

  View details for PubMedCentralID PMC10515441