SFARI Abstracts and E-Posters at INSAR 2020 Virtual

July 2, 2020

The International Society for Autism Research (INSAR) 2020 Annual Meeting to be held May 2020 was canceled, but virtual content is now available online. A selection of abstracts and e-Posters by SFARI Investigators, SFARI staff and collaborators are highlighted here.

Autism Research Initiative (SFARI)

The International Society for Autism Research (INSAR) 2020 Annual Meeting to be held May 6–9, 2020, in Seattle, WA, was canceled, but virtual content is now available online.

A selection of abstracts and e-Posters by SFARI Investigators, SFARI scientific staff and collaborators, as well as of studies that use SFARI-funded data and resources, are highlighted below.

All abstracts that were accepted for the INSAR 2020 meeting (including panel, oral and poster presentations) can be found in the INSAR 2020 Virtual abstracts web portal. Links to e-Posters can be found on the abstract pages (where available). The INSAR 2020 Virtual abstract book (PDF) is available here.

Various INSAR Committee Chairs are also developing virtual content from planned INSAR 2020 sessions. Updates regarding additional content and webinars can be found here.

Return of individual genetic results in the largest recontactable cohort of people with autism^*1

J.R. Wright, S. Ganesan, J. Hall, B. Han, C. Diggins, T. Greene, SPARK Consortium, P. Feliciano and W. K. Chung

Genomic analysis of 10,242 individuals with autism spectrum disorder (ASD) recruited online identifies 161 risk genes and new insights into the genetic architecture of multiplex families^*1

X. Zhou, T. Wang, P. Feliciano, J. Hall, S. C. Murali, N. Zhu, S. Bruce, I. Astrovskaya, L. Brueggeman, S. Xu, T. N. Turner, C. Fleisch, L. Green Snyder, W. Harvey, J. R. Wright, A. Nishida, R. N. Doan, A. Soucy, SPARK Consortium, B. J. O’Roak, T. Yu, J. Michaelson, N. Volfovsky, E. E. Eichler, Y. Shen and W. K. Chung

Variation of hnRNP encoding genes and shared neurodevelopmental disorders^*1

M.A. Gillentine, T. Nowakowski, T. Wang, J. Rosenfeld, K. Hoekzema, H. Panjwani, H. Guo, E. Torti, P.S. Atwal, G. Mirzaa, J. Gecz, M. Nordenskjold, C. Romano, F. Kooy, X. Hu, H. Peeters, C. Lajonchere, B. De Vries, X. Mao, C. Zweier, E. Lopez, A. Lehman, G. Vockley, J. Sebastian, C. Christensen, K.M. White, E.J. Espineli, L.M. Bird, M. Wright, M. Iascone, P. Levy, M. Lauridsen, K. Sorensen, S. Srivastava, I. Anselm, K. L. Simpson, T. Feyma, S. Madan-Khetarpal, G.D. Clark, D. Vats, M. Kukolich, S. Maitz, L. McDaneld, E. Zackai, E. Bhoj, M. Harr, G. Cappuccio, N. Brunetti-Pierri, B.K. Murray, S.A. Schrier Vergano, M.S. Marcogliese, S. Syed, R. Stratton, R. Bernier and E.E. Eichler

Abstract | e-Poster

Disentangling autism heterogeneity through multivariate genetic analyses^*1

M.M. van Donkelaar, C. Figaroa, E. Verhoef, S.E. Fisher, D. Rai and B. St. Pourcain

Autism high-risk genes and new genetic subtypes

H. Guo, H. Wu, T. Wang, Y. Quan, M. Chen, M. He, B. Du, E.E. Eichler and X. Kun

Characterizing germline and mosaic mutations and their integrated roles in the biological mechanisms underlying autism risk^*2

A. Nishida, L. Brueggeman, J. Michaelson and B.J. O’Roak

Differences in the genetic background contribute to risk and resilience to autism^*2

T. Rolland, F. Cliquet, R.J. Anney, A. Mathieu, G. Huguet, A. Vaysse, C. Leblond, E.A. Douard, A. Maruani, F. Amsellem, A. Packer, S. Jacquemont, R. Delorme and T. Bourgeron

Comparing the genetic architecture between high and low-functioning autism spectrum disorder^*2

Z. Schmilovich, Q. He, G. Huguet, S. Jacquemont, B. Chaumette, P.A. Dion and G.A. Rouleau

Rare transmitted variants identify novel genes and pathways contributing to autism spectrum disorder^*1,2

A.B. Wilfert, T.N. Turner, S.C. Murali, T. Wang, A. Sulovari, H. Guo, B.P. Coe, E.E. Eichler and SPARK Consortium

Contrast pattern mining to better understanding complex genomic interactions and their effect on the development of autism^*1

W. Baskett and C.R. Shyu

Special Interest Group: Autism research with the postmortem brain⁺

Chair: D.G. Amaral

Altered cortical development in mice harboring autism-associated TBR1 mutations

M. Co, S. Grindstaff, J.N. Jahncke, R.M. Mulqueen, B.A. DeRosa, R. Barnard, L. Fedorov, K.M. Wright and B. J. O’Roak

Abstract | e-Poster

Loss of Kmt5b results in structural changes at the skeletal muscle neuromuscular junction

J. Hulen, R. Wickramasekara, J. Hallgren, R.L. Black, P. Abel and H.F. Stessman

Abstract | e-Poster

Utilizing forebrain-like organoids to characterize the impact of TBR1 de novo mutations on regulation of deep layer cortical development at a single-cell resolution

B.A. DeRosa, R.M. Mulqueen, A. Nishida, C.A. Thornton, K.A. Torkenczy, A.J. Fields, M. Co, K.M. Wright, F.J. Steemers, A.C. Adey and B.J. O’Roak

Testing the link between cell cycle disruption and ASD: Impacts of Chd8 mutation on cell proliferation dynamics in embryonic and postnatal brain

C.P. Canales, S. Frank, J. Bennett, A.A. Wade, H. Mir, P. Beauregard, D.G. Amaral and A.S. Nord

Changes in the developing and mature brain in Chd8 heterozygous mutant mice

A.A. Wade, C.P. Canales, C.E. Moyer, S. Frank, J. Bennett, Y. Zuo, D.G. Amaral and A.S. Nord

Pre-symptomatic prediction of ASD in high risk infants with scalable EEG methods

S. Jeste and A.H. Dickinson

Regulation of autism-relevant behaviors by distinct cerebellar-prefrontal cortical circuits

E. Kelly, F. Meng, Y. Kazemi and P. Tsai

Sensory and cognitive behavioural characteristics of the Cntnap2 rat model for ASD

K. Scott, R. Mann, K. Kazazian, A. Schormans, B. Allman and S. Schmid

Connecting brain and behavior: Understanding GRIN2B disruptive mutations

C. M. Hudac, T. DesChamps, R. K. Earl, J. Gerdts, E.E. Eichler, S.J. Webb and R. Bernier

Habituation as an ASD biomarker: Capturing distinct genetic profiles in Drosophila and humans

L. Blok, T. DesChamps, M. Fenckova, I. Erdogan, E.E. Eichler, S.J. Webb, R. Bernier, A. Schenck and C.M. Hudac

Characterizing cerebellar-thalamic-cortical structural covariance in 125 mouse models of autism spectrum disorder

F. Morgado, J. Ellegood and J.P. Lerch

Abstract | e-Poster

Thalamic resting-state connectivity mediates the relationship between thalamic GABA and sensory over-responsivity in ASD

E.T. Wood, K.K. Cummings, J. Guo, J. O’Neill, M. Dapretto, S.Y. Bookheimer and S.A. Green

Testing 1/f as a proxy marker of E/I ratio in EEG using arbaclofen: Evidence from adults with and without autism spectrum condition (ASC)

C.L. Ellis, J. Ahmad, A. Zoumpoulaki, H.E. Velthuis, A.C. Pereira, N.M. Wong, M. Dimitrov, L. Kowalewski, E. Daly, E. McGregor, P. Garces, D.G. Murphy and G.M. McAlonan

Pip’s world: An adaptive tablet battery to assess preschoolers with autism spectrum disorder across five behavioural domains

A.N. de Rothschild, P.F. da Costa, O. Smart, A. Goodwin, M. Leverington, T.A. Chang, J. Koziel, A. Pilkington, E.J. Jones, R. Leech and E. Loth

Abstract | e-Poster

The Autism Biomarkers Consortium for Clinical Trials: Study design and progress to biomarker qualification

J. C. McPartland, S.J. Webb, F. Shic, A. Naples, C. Sugar, M. Murias, G. Hellemann, D. Senturk, J. Dziura, C. Brandt, R. Bernier, K. Chawarska, G. Dawson, S. Faja, S. Jeste and C. A. Nelson

Validating the Beck Depression Inventory–II in adults with autism spectrum disorder^*1

Z.J. Williams and K.O. Gotham

Abstract | e-Poster

Improving biosensor prediction of aggression in youth with autism using support vector machines^*4

M.S. Goodwin, T. Imbiriba, D.C. Cumpanasoiu, J. Heathers, S. Ioannidis, D. Erdogmus, A. Stedman, C. Peura, C.A. Mazefsky and M. Siegel

Psychiatric and medical characteristics of independent adults with autism in SPARK^*1

B. Vernoia, L. Green Snyder and W.K. Chung

Context modulates attention to faces in dynamic social scenes in children and adults with autism spectrum disorder

G.J. Pandina, D. Kaliukhovich, N.V. Manyakov, A. Bangerter, S. Ness, A. Skalkin, M. Boice and F. Shic

Abstract | e-Poster

Markers of risk for autism in early infancy: Cry acoustics and neurobehavioral responses at 1-month of age predict later autism diagnoses

S.J. Sheinkopf, T.P. Levine, G. Puggioni, H. Silverman and B.M. Lester

SPARK research match: A national registry for clinical trial recruitment^*1

J. Toroney, J.K. Law, C.W. Lehman, B. Vernoia, S. Xiao, P. Feliciano and W.K. Chung

Cluster analysis of extremely high ability autism reveals heterogeneity in cognitive performance and behavioral phenotypes in a gifted/talented clinical cohort

L.G. Casten, T.C. Kalmus, J. Michaelson, S. Assouline, T. Nickl-Jockschat and T. Abel

Abstract | e-Poster

Service utilization of minimally verbal individuals with autism^*1

S.C. Brandjord and A.N. Esler

Abstract | e-Poster

Longitudinal change in core symptoms of autism spectrum disorder in children: Online survey of caregivers^*1

C. Liu, G. Durán-Pacheco, M. Silkey, M. Johnson, J.K. Law and G. Loss

Abstract | e-Poster

Towards a data driven approach to screen for autism risk at 12 months of age

S.S. Meera, K. Donovan, J. Wolff, L. Zwaigenbaum, J.T. Elison, K. Truong, M.D. Shen, H.C. Hazlett, A. Estes, L.R. Watson, G.T. Baranek, M. Swanson, T. St. John, C.A. Burrows, R.T. Schultz, S.R. Dager, K. Botteron, J. Pandey and J. Piven

GEARS: Gene-Environment Autism Research Study through collaboration with SPARK research match^*1

L.P. Grosvenor, H.E. Volk, L. Song, J.I. Feinberg, J. Daniels, M. Landrum, B. Vernoia, C.W. Lehman, J.K. Law, C. Ladd-Acosta, K.S. Benke and M.D. Fallin

Understanding barriers to minority and underrepresented populations’ participation in autism research^*1

S. Palmer, V. Ranganathan, M. Tafolla Magana, K. Murillo, A. Gulsrud, K. Diehl, N. Nagpal, A. Daniels, R.T. Schultz, J. Pandey and SPARK Consortium

Cross-cultural differences in vaccine hesitancy and attributions for autism in parents of children with autism^*1

J. Chang and R.P. Goin-Kochel

Abstract | e-Poster

Predictors of parent-reported use of special education or early intervention services among preschool-age children with autism in the SPARK cohort^*1

S. Xiao, A. Daniels, L. Green Snyder, J.K. Law and W.K. Chung

Abstract | e-Poster

Anxiety problems mediate associations between sleep and gastrointestinal problems in hospitalized children with autism spectrum disorder (ASD)^*4

B.J. Taylor, K.A. Pedersen and M. Siegel

Abstract | e-Poster

Relationship between prematurity, ASD diagnosis, and comorbidities in the SPARK sample^*1

E. Brooks, L. Green Snyder and W.K. Chung

Sleep disruptions in individuals with 16p11.2 copy number variants^*3

H.E. Reed, A. Jutla, J. Veenstra-Vander Weele and W.P. Fifer

Seizure onset, intractability, and developmental outcomes among individuals with SCN2A or DYRK1A mutations

A.C. Petriceks, C.P. Haensli, E. Kurtz-Nelson, R.K. Earl, E.E. Eichler and R. Bernier

Abstract | e-Poster

Social activity monitoring among carriers of disruptive mutations to DYRK1A

T. DesChamps, M.M. Mahony, F. Shic, R.K. Earl, T.M. Rutter, J. Gerdts, S. Trinh, E.E. Eichler, R. Bernier and C.M. Hudac

Variability in externalizing behavior problems among individuals with ASD-associated disruptive mutations^*3

E. Kurtz-Nelson, R.K. Earl, A.S. Wallace, E.E. Eichler and R. Bernier

Abstract | e-Poster

Examining specific aversions and aggressive behaviors in children with autism spectrum disorder^*2

D.L. Limon, A.C. Ramirez, K. Ahmed, J. Dempsey, Z. Liu, T.N. Takahashi, S.M. Kanne and R.P. Goin-Kochel

Abstract | e-Poster

Evaluating registration location on sample quality and survey completion of participants in the SPARK study^*1

L.M. Herbert, N. Decius, G. David, D. Correa, M.N. Hale, A. Gutierrez, M. Alessandri and M.K. Rayos

Abstract | e-Poster

Evaluating the efficacy of home visits on participant enrollment in SPARK^*1

V. Ranganathan, M. Alessandri, C. Bradley, A. Brown, C. Buescher, L. Carpenter, K. Coleman, SPARK Consortium, S. Conyers, D. Correa, H. Cottrell, A. Daniels, G. David, N. Decius, K. Diehl, R. A. Gordon, A. Gutierrez, M.N. Hale, L.M. Herbert, S. Hunter, T.C. Kalmus, S. Kanne, R. Landa, H. Lechniak, A. McKenzie, M. McTaggart, J. Michaelson, N. Nagpal, S. Palmer, J. Pandey, K. Pierce, R. Shikov, M. Shir, A. Shocklee, V. Singh, R.T. Schultz, C.J. Smith, B. Van Metre and E.L. Wodka

The relationship between age of diagnosis and core deficits in autism spectrum disorder (ASD)^*1

L.R. Ketcheson, E.A. Pitchford and C. Wentz

Abstract | e-Poster

^*Uses data and/or resources from ¹ SPARK, ²Simons Simplex Collection, ³ Simons Searchlight, ⁴ Autism Inpatient Collection.

⁺This will be broadcast as a webinar (INSAR membership required); date and time to be announced soon. Discussants will mention resources available from Autism BrainNet.

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