Somer Lauren Bishop

All Publications

• Remote Infant Studies of Early Learning (RISE): Scalable online replications of key findings in infant cognitive development. Developmental psychology Tenenbaum, E. J., Stone, C., Vu, M. H., Hare, M., Gilyard, K. R., Arunachalam, S., Bergelson, E., Bishop, S. L., Frank, M. C., Hamlin, J. K., Kline Struhl, M., Landa, R. J., Lew-Williams, C., Libertus, M. E., Luyster, R. J., Markant, J., Sabatos-DeVito, M., Sheinkopf, S. J., Wagner, J. B., Park, K., Soderling, A. I., Waterman, A. K., Grapel, J. N., Bermano, A., Erel, Y., Jeste, S. 2024

  Abstract

  The current article describes the Remote Infant Studies of Early Learning, a battery intended to provide robust looking time measures of cognitive development that can be administered remotely to inform our understanding of individual developmental trajectories in typical and atypical populations, particularly infant siblings of autistic children. This battery was developed to inform our understanding of early cognitive and language development in infants who will later receive a diagnosis of autism. Using tasks that have been successfully implemented in lab-based paradigms, we included assessments of attention, memory, prediction, word recognition, numeracy, multimodal processing, and social evaluation. This study reports results on the feasibility and validity of administration of this task battery in 55 infants who were recruited from the general population at age 6 months (n = 29; 14 female, 15 male) or 12 months (n = 26; 14 female, 12 male; 62% White, 13% Asian, 1% Black, 1% Pacific Islander, 22% more than one race; 6% Hispanic). Infant looking behavior was recorded during at-home administration of the battery on the family's home computer and automatically coded for attention to stimuli using iCatcher+, an open-access software that assesses infant gaze direction. Results indicate that while some tasks replicated lab-based findings (attention, memory, prediction, and numeracy), others did not (word recognition, multimodal processing, and social evaluation). These findings will inform efforts to refine the battery as we continue to develop a robust set of tasks to improve the understanding of early cognitive development at the individual level in general and clinical populations. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

  View details for DOI 10.1037/dev0001849

  View details for PubMedID 39531700

• Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders NATURE GENETICS Weiner, D. J., Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., Okbay, A., Bybjerg-Grauholm, J., Werge, T., Hougaard, D. M., Taylor, J., Skuse, D., Devlin, B., Anney, R., Sanders, S. J., Bishop, S., Mortensen, P., Borglum, A. D., Smith, G., Daly, M. J., Robinson, E. B., Baekvad-Hansen, M., Dumont, A., Hansen, C., Hansen, T. F., Howrigan, D., Mattheisen, M., Moran, J., Mors, O., Nordentoft, M., Norgaard-Pedersen, B., Poterba, T., Poulsen, J., Stevens, C., Anttila, V., Holmans, P., Huang, H., Klei, L., Lee, P. H., Medland, S. E., Neale, B., Weiss, L. A., Zwaigenbaum, L., Yu, T. W., Wittemeyer, K., Willsey, A., Wijsman, E. M., Wassink, T. H., Waltes, R., Walsh, C. A., Wallace, S., Vorstman, J. A. S., Vieland, V. J., Vicente, A. M., van Engeland, H., Tsang, K., Thompson, A. P., Szatmari, P., Svantesson, O., Steinberg, S., Stefansson, K., Stefansson, H., State, M. W., Soorya, L., Silagadze, T., Scherer, S. W., Schellenberg, G. D., Sandin, S., Saemundsen, E., Rouleau, G. A., Roge, B., Roeder, K., Roberts, W., Reichert, J., Reichenberg, A., Rehnstrom, K., Regan, R., Poustka, F., Poultney, C. S., Piven, J., Pinto, D., Pericak-Vance, M. A., Pejovic-Milovancevic, M., Pedersen, M. G., Pedersen, C. B., Paterson, A. D., Parr, J. R., Pagnamenta, A. T., Oliveira, G., Nurnberger, J. I., Nordentoft, M., Murtha, M. T., Mouga, S., Mors, O., Morrow, E. M., De Luca, D., Monaco, A. P., Minshew, N., Merikangas, A., McMahon, W. M., McGrew, S. G., Mattheisen, M., Martsenkovsky, I., Martin, D. M., Mane, S. M., Magnusson, P., Magalhaes, T., Maestrini, E., Lowe, J. K., Lord, C., Levitt, P., Martin, C., Ledbetter, D. H., Leboyer, M., Le Couteur, A. S., Ladd-Acosta, C., Kolevzon, A., Klauck, S. M., Jacob, S., Iliadou, B., Hultman, C. M., Hertz-Picciotto, I., Hendren, R., Hansen, C. S., Haines, J. L., Guter, S. J., Grice, D. E., Green, J. M., Green, A., Goldberg, A. P., Gillberg, C., Gilbert, J., Gallagher, L., Freitag, C. M., Fombonne, E., Folstein, S. E., Fernandez, B., Fallin, M., Ercan-Sencicek, A., Ennis, S., Duque, F., Duketis, E., Delorme, R., De Rubeis, S., De Jonge, M. V., Dawson, G., Cuccaro, M. L., Correia, C. T., Conroy, J., Conceicao, I. C., Chiocchetti, A. G., Celestino-Soper, P. B. S., Casey, J., Cantor, R. M., Cafe, C., Brennan, S., Bourgeron, T., Bolton, P. F., Boelte, S., Bolshakova, N., Betancur, C., Bernier, R., Beaudet, A. L., Battaglia, A., Bal, V. H., Baird, G., Bailey, A. J., Baekvad-Hansen, M., Bader, J. S., Bacchelli, E., Anagnostou, E., Amaral, D., Almeida, J., Buxbaum, J. D., Chakravarti, A., Cook, E. H., Coon, H., Geschwind, D. H., Gill, M., Hakonarson, H., Hallmayer, J., Palotie, A., Santangelo, S., Sutcliffe, J. S., Arking, D. E., iPSYCH-Broad Autism Grp, Psychiat Genomics Consortium 2017; 49 (7): 978-+

  Abstract

  Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.

  View details for DOI 10.1038/ng.3863

  View details for Web of Science ID 000404253300005

  View details for PubMedID 28504703

  View details for PubMedCentralID PMC5552240

• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., Goldberg, A. P., Jinlu, C., Keaney, J. F., Klei, L., Mandell, J. D., Moreno-De-Luca, D., Poultney, C. S., Robinson, E. B., Smith, L., Solli-Nowlan, T., Su, M. Y., Teran, N. A., Walker, M. F., Werling, D. M., Beaudet, A. L., Cantor, R. M., Fombonne, E., Geschwind, D. H., Grice, D. E., Lord, C., Lowe, J. K., Mane, S. M., Martin, D. M., Morrow, E. M., Talkowski, M. E., Sutcliffe, J. S., Walsh, C. A., Yu, T. W., Ledbetter, D. H., Martin, C. L., Cook, E. H., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., State, M. W. 2015; 87 (6): 1215-1233

  Abstract

  Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1).

  View details for DOI 10.1016/j.neuron.2015.09.016

  View details for PubMedID 26402605

  View details for PubMedCentralID PMC4624267

• Dr. Frazier et al. reply. Journal of the American Academy of Child and Adolescent Psychiatry Frazier, T. W., Georgiades, S., Bishop, S. L., Hardan, A. Y. 2014; 53 (6): 700-701

  View details for DOI 10.1016/j.jaac.2014.04.002

  View details for PubMedID 24839891

• Behavioral and cognitive characteristics of females and males with autism in the simons simplex collection. Journal of the American Academy of Child and Adolescent Psychiatry Frazier, T. W., Georgiades, S., Bishop, S. L., Hardan, A. Y. 2014; 53 (3): 329-340 e3

  Abstract

  To examine differences in behavioral symptoms and cognitive functioning between males and females with autism spectrum disorder (ASD).We analyzed data from 2,418 probands with autism (304 females and 2,114 males) included in the Simons Simplex Collection. Sex differences were evaluated across measures of autism symptoms, cognitive and motor functioning, adaptive behavior, and associated behavior problems. Measurement bias was examined using latent variable models of symptoms. Unadjusted and propensity-adjusted analyses were computed to ensure that sex differences were not due to unbalanced sampling. Moderator and mediator analyses evaluated whether sex differences were modified by clinical characteristics or were driven by cognitive ability.Females with ASD had greater social communication impairment, lower levels of restricted interests, lower cognitive ability, weaker adaptive skills, and greater externalizing problems relative to males. Symptom differences could not be accounted for by measurement differences, indicating that diagnostic instruments captured autism similarly in males and females. IQ reductions mediated greater social impairment and reduced adaptive behavior in females with ASD, but did not mediate reductions in restricted interests or increases in irritability.A specific female ASD phenotype is emerging that cannot be accounted for by differential symptom measurement. The present data suggest that the relatively low proportion of high-functioning females may reflect the effect of protective biological factors or may be due to under-identification. Additional carefully accrued samples are needed to confirm the present pattern and to evaluate whether observed sex ratios in high-functioning cases are reduced if female-specific indicators of restricted interests are included.

  View details for DOI 10.1016/j.jaac.2013.12.004

  View details for PubMedID 24565360

  View details for PubMedCentralID PMC3935179