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.
Genetics
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
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
Molecular Mechanisms
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
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
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
Circuits, Cognition & Behavior
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
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
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
Clinical
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
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
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
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
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
Service utilization of minimally verbal individuals with autism*1
S.C. Brandjord and A.N. Esler
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
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
Predictors of parent-reported use of special education or early intervention services among preschool-age children with autism in the SPARK cohort*1
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
Relationship between prematurity, ASD diagnosis, and comorbidities in the SPARK sample*1
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
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
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
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
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
* Uses data and/or resources from 1 SPARK, 2 Simons 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.
