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2. Diversity, Dignity, Equity, and Inclusion in the Age of Division, Discord and Disunion: Stereotyping, Sexist, Hegemony in Education

Author

Gupta, Abha

Abstract

The article addresses diversity issues related to language, gender, and culture. Topics include fundamental areas of research essential to the discussion on language diversity in the context of education with respect to equity, poverty, stereotype threat, Pygmalion Effect, non-sexist language, and Matthews Effect. The discussion on diversity and equity creates a space to think about issues of access, opportunity, voice, and equal participation within society and educational settings. Diversity among humans requires thoughtful considerations, accommodations, and differentiations in educational treatment, yet providing equal opportunities for growth and learning for all.

Published
2023

6. Copy Number Variation Informs fMRI-based Prediction of Autism Spectrum Disorder

Author

Dvornek, Nicha C., Sullivan, Catherine, Duncan, James S., and Gupta, Abha R.

Subjects
Quantitative Biology - Quantitative Methods, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Electrical Engineering and Systems Science - Image and Video Processing
Abstract

The multifactorial etiology of autism spectrum disorder (ASD) suggests that its study would benefit greatly from multimodal approaches that combine data from widely varying platforms, e.g., neuroimaging, genetics, and clinical characterization. Prior neuroimaging-genetic analyses often apply naive feature concatenation approaches in data-driven work or use the findings from one modality to guide posthoc analysis of another, missing the opportunity to analyze the paired multimodal data in a truly unified approach. In this paper, we develop a more integrative model for combining genetic, demographic, and neuroimaging data. Inspired by the influence of genotype on phenotype, we propose using an attention-based approach where the genetic data guides attention to neuroimaging features of importance for model prediction. The genetic data is derived from copy number variation parameters, while the neuroimaging data is from functional magnetic resonance imaging. We evaluate the proposed approach on ASD classification and severity prediction tasks, using a sex-balanced dataset of 228 ASD and typically developing subjects in a 10-fold cross-validation framework. We demonstrate that our attention-based model combining genetic information, demographic data, and functional magnetic resonance imaging results in superior prediction performance compared to other multimodal approaches., Comment: Accepted by Machine Learning in Clinical Neuroimaging 2023 (MICCAI workshop), preprint version

Published
2023

8. Making a Difference through Sustained In-Service Teacher Training

Author

Gupta, Abha and Lee, Guang Lea

Abstract

This study is based on collaboration between a school and a university on professional development training of 4th and 5th grade elementary school teachers in a southeastern state in the USA. The study was three-pronged and focused on teacher knowledge, pedagogy, and student achievement. We examined how the building of teacher capacity affected the performance of underachieving students in math and literacy. Underachieving students were targeted with specific strategies, projects, problems solving stories, self-reflection, and higher-level thinking questions. Student performance was measured for literacy achievement, with quantitative and qualitative measures used for data collection purposes. Students showed progress over previous years in reading scores. Teachers' growth in knowledge related to the content area was evidenced by the consistently high mean scores. Teachers' self-ratings on the frequency of using the targeted strategies were indirect evidence of their implementation in the classroom. The results were positive and showed significant progress over previous years concerning student achievement.

Published
2022

11. Return of genetic research results in 21,532 individuals with autism

Author

Aarrestad, Alexandria, Abbeduto, Leonard, Aberbach, Gabriella, Aberle, Shelley, Adegbite, Adediwura, Adeniji, Debbie, Aguilar, Maria, Ahlers, Kaitlyn, Albright, Charles, Alessandri, Michael, Algaze, Zach, Alkazi, Jasem, Amador, Raquel, Amaral, David, Amon, Logan, Amundsen, Leonor, Andrus, Alicia, Anglo, Claudine, Annett, Robert, Arar, Adam, Arnold, Jonathan, Arriaga, Ivette, Arzate, Eduardo, Ashley, Raven, Aslamy, Leilemah, Baalman, Kelli, Baer, Melissa, Bahi, Ethan, Bailey, Joshua, Baldlock, Zachary, Banks, Grabrielle, Baraghoshi, Gabriele, Bardett, Nicole, Barrett, Mallory, Bartholomew, Yan, Bates, Heidi, Beard, Katie, Becerra, Juana, Beckwith, Malia, Beechan, Paige, Beeson, Landon, Beeson, Josh, Bell, Brandi, Belli, Monica, Bentley, Dawn, Berger, Natalie, Berman, Anna, Bernier, Raphael, Berry-Kravis, Elizabeth, Berwanger, Mary, Birdwell, Shelby, Blank, Elizabeth, Bond, Rebecca, Booker, Stephanie, Bordofsky, Aniela, Bower, Erin, Bowers, Lukas, Bradley, Catherine, Brayer, Heather, Brewster, Stephanie, Brown, Hallie, Brown, Alison, Brown, Melissa, Buck, Catherine, Buescher, Cate, Bullon, Kayleigh, Buraima, Joy, Butter, Eric, Caamano, Amalia, Cacciato, Nicole, CaI, Wenteng, Calderon, Norma, Callahan, Kristen, Camba, Alexies, Campo-Soria, Claudia, Caprara, Giuliana, Carbone, Paul, Carpenter, Laura, Carpenter, Sarah, Casseus, Myriam, Casten, Lucas, Catherine, Sullivan, Chappo, Ashley, Chavez, Kimberly, Cheathem-Johnson, Randi, Chen, Tia, Chintalapalli, Sharmista, Cho, Daniel, Choi, Y.B., Clark, Nia, Clark, Renee, Coffman, Marika, Coleman, Laura, Coleman, Kendra, Collins, Alister, Columbi, Costanza, Comitre, Joaquin, Constant, Stephanie, Contra, Arin, Conyers, Sarah, Cooper, Lindsey, Cooper, Cameron, Coppola, Leigh, Corlett, Allison, Corrales, Lady, Correa, Dahriana, Cottrell, Hannah, Coughlin, Michelle, Courchesne, Eric, Coury, Dan, Crocetti, Deana, Croson, Carrie, Crowell, Judith, Cubells, Joseph, Cunningham, Sean, Currin, Mary, Cutri, Michele, D'Ambrosi, Sophia, David, Giancarla, Davis, Ayana, Davis, Sabrina, Decius, Nickelle, Delaporte, Jennifer, DeMarco, Lindsey, Dennis, Brandy, Deronda, Alyssa, Dhawan, Esha, Dichter, Gabriel, Doan, Ryan, Dominick, Kelli, Ortega, Leonardo Dominquez, Doyle, Erin, Drayton, Andrea, DuBois, Megan, Dudley, Johnny, Duhon, Gabrielle, Duncan, Grabrielle, Duncan, Amie, Dunlevy, Megan, Dyer, Meaghan, Earl, Rachel, Edmonson, Catherine, Eldred, Sara, Elliott, Nelita, Emery, Brooke, Enright, Barbara, Erb, Sarah, Erickson, Craig, Esler, Amy, Estevez, Liza, Fanta, Anne, Fassler, Carrie, Fatemi, Ali, Fazal, Faris, Featherston, Marilyn, Ferguson, Jonathan, Fish, Angela, Fitzgerald, Kate, Flores, Kathleen, Fombonne, Eric, Foster, Margaret, Fowler, Tiffany, Fox, Emma, Fox, Emily, Francis, Sunday, Frayne, Margot, Froman, Sierra, Fuller, Laura, Galbraith, Virginia, Gallimore, Dakota, Gambrell, Ariana, Gazestani, Vahid, Geisheker, Madeleine R., Gerdts, Jennifer, Geschwind, Daniel, Ghaziuddin, Mohammad, Ghina, Haidar, Given, Erin, Goetz, Mykayla, Gong, Jared, Gonring, Kelsey, Gonzalez, Natalia, Gonzalez, Antonio, Goodwill, Ellie, Gordon, Rachel, Graham, Carter, Gray, Catherine, Grimes, Ellen, Griswold, Anthony, Gu, Pan, Guilfoyle, Janna, Gulsrud, Amanda, Gunderson, Jaclyn, Gunter, Chris, Gupta, Sanya, Gupta, Abha, Gutierrez, Anibal, Gwynette, Frampton, Haidar, Ghina, Hale, Melissa, Haley, Monica, Hall, Lauren K., Hamer, Kira, Hamilton, Piper, Hanna, Nathan, Hardan, Antonio, Harkins, Christina, Harrell, Eldric, Harris, Jill, Harris, Nina, Hayes, Caitlin, Hayse, Braden, Heckers, Teryn, Heerwagen, Kathryn, Hennelly, Daniela, Herbert, Lynette, Hermle, Luke, Hernandez, Briana, Herrera, Clara, Hess, Amy, Heyman, Michelle, Higgins, Lorrin, Phillips, Brittani Hilscher, Hirst, Kathy, Ho, Theodore, Hoffman, Emily, Hojlo, Margaret, Honaker, Makayla, Hong, Michael, Hooks, Gregory, Horner, Susannah, Horton, Danielle, Hounchell, Melanie, Howes, Dain, Huang-Storm, Lark, Hunter, Samantha, Hutter, Hanna, Hyde, Emily, Ibanez, Teresa, Ingram, Kelly, Istephanous, Dalia, Jacob, Suma, Jarratt, Andrea, Jelinek, Anna, Johnson, Mary, Jones, Mya, Jones, Garland, Jones, Mark, Jorgenson, Alissa, Judge, Jessyca, Kalb, Luther, Kalmus, Taylor, Kang, Sungeun, Kangas, Elizabeth, Kanne, Stephen, Kaplan, Hannah, Khan, Sara, Kim, Sophy, Kim, Annes, Kitaygordsky, Alex, Klaiman, Cheryl, Klever, Adam, Koene, Hope, Koomar, Tanner, Koza, Melinda, Kramer, Sydney, Krushena, Meghan, Kurtz-Nelson, Eva, Lamarche, Elena, Lampert, Erica, Lamy, Martine, Landa, Rebecca, Lebron-Cruz, Alexa, Lechniak, Holly, Lee, Soo, Leight, Bruce, Lerner, Matthew, Lesher, Laurie, Lewis, Courtney, Li, Hai, Li, Deana, Libove, Robin, Lillie, Natasha, Limon, Danica, Limpoco, Desi, Lin, Melody, Littlefield, Sandy, Lobisi, Brandon, Locarno, Laura, Long, Nancy, Long, Bailey, Long, Kennadie, Lopez, Marilyn, Lovering, Taylor, Lozano, Ivana, Lucio, Daniella, Luo, Addie, Luu, My-Linh, Lyon, Audrey, Ma, Julia, Madi, Natalie, Malloch, Lacy, Mankaryous, Reanna, Manning, Patricia, Mantey, Alvin, Marini, Richard, Marsden, Alexandra, Marwali, Clarissa, Marzano, Gabriela, Mason, Andrew, Mastel, Sarah, Mathai, Sheena, Matthews, Emily, Matusoff, Emma, Maxim, Clara, McCarthy, Caitlin, McClellen, Lynn, Mccoy, Nicole, McCullough, Kaylen, McDonald, Brooke, McGalliard, Julie, McIntyre, Anne-Marie, McKenna, Brooke, McKenzie, Alexander, McTaggart, Megan, Meinen, Hannah, Melnyk, Sophia, Miceli, Alexandra, Michaels, Sarah, Michaelson, Jacob, Milan, Estefania, Miller, Melissa, Milliken, Anna, Minton, Kyla, Mitchell, Terry, Gunn, Amanda Moffitt, Mohiuddin, Sarah, Money, Gina, Montezuma, Jessie, Mooney, Lindsey, Moore, Margo, Morales-Lara, Amy, Morgan, Kelly, Morotti, Hadley, Morrier, Michael, Munoz, Maria, Lavanderos, Ambar Munoz, Murali, Shwetha, Murillo, Karla, Murray, Kailey, Myhre, Erin, Neely, Jason, Neuhaus, Emily, Newman, Olivia, Nguyen, Richard, Nguyen, Victoria, Nichols, Evelyn, Nicholson, Amy, Niederhauser, Melanie, Norris, Megan, Norton, Shai, Nowell, Kerri, O’Brien, Kaela, O’Meara, Mitchell, O’Neil, Molly, O'Roak, Brian, Ocampo, Edith, Ochoa-Lubinoff, Cesar, Oft, Anna, Orobio, Jessica, Ortiz, Crissy, Ousley, Opal, Oyeyemi, Motunrayo, Pacheco, Lillian, Palacios, Valeria, Palmer, Samiza, Palmeri, Isabella, Pama, Katrina, Pandey, Juhi, Paolicelli, Anna Marie, Parker, Jaylaan, Patterson, Morgan, Pawlowski, Katherine, Pedapati, Ernest, Pepper, Michah, Perrin, Jeremy, Peura, Christine, Phillips, Diamond, Pierce, Karen, Piven, Joseph, Plate, Juhi, Polanco, Jose, Pott-Schmidt, Natalie, Pramparo, Tiziano, Pratt, Taleen, Prock, Lisa, White, Stormi Pulver, Qi, Hongjian, Qiu, Shanping, Queen, Eva, Questel, Marcia, Quinones, Ashley, Rambeck, Desiree, Randall, Shelley, Ranganathan, Vaikunt, Raymond, Laurie, Rayos, Madelyn, Real, Kelly, Rhea, Anna, Rice, Catherine, Richardson, Harper, Riffle, Stacy, Robertson, Tracy, Roby, Erin, Rocha, Ana, Roche, Casey, Rodriguez, Nicki, Rodriguez, Bianca, Roeder, Katherine, Rojas, Daniela, Rosewater, Jacob, Rosselott, Hilary, Runyan, Payton, Russo, Nicole, Rutter, Tara, Ruzzo, Elizabeth, Sahin, Mustafa, Salem, Fatima, Sanchez, Rebecca, Sanders, Muave, Sanderson, Tayler, Sandhu, Sophie, Sanford, Katelyn, Santangelo, Susan, Santulli, Madeline, Sarver, Dustin, Savage, Madeline, Scherr, Jessica, Schneider, Hoa, Schools, Hayley, Schoonover, Gregory, Schultz, Robert, Sebolt, Cheyanne, Shaffer, Rebecca, Shameen, Sana, Sherard, Curry, Shikov, Roman, Shillington, Amelle, Shir, Mojeeb, Shocklee, Amanda, Shrier, Clara, Shulman, Lisa, Siegel, Matt, Simon, Andrea, Simon, Laura, Singh, Arushi, Singh, Vini, Smalley, Devin, Smith, Kaitlin, Smith, Chris, Smith, Ashlyn, Soorya, Latha, Soscia, Julia, Soucy, Aubrie, Stchur, Laura, Steele, Morgan, Srishyla, Diksha, Stamps, Danielle, Sussman, Nicole, Swanson, Amy, Sweeney, Megan, Sziklay, Anthony, Tafolla, Maira, Taiba, Jabeen, Takahashi, Nicole, Terroso, Sydney, Strathearn, Camilla, Thomas, Taylor, Thompson, Samantha, Touchette, Ellyn, Townsend, Laina, Trog, Madison, Tsai, Katherine, Tseng, Angela, Tshering, Paullani, Tso, Ivy, Valicenti-Mcdermott, Maria, VanMetre, Bonnie, VanWade, Candace, Turecki, Samuel, Vargo, Kerrigan, Vattuone, Cristiana, Veenstra-Vanderweele, Jeremy, Vehorn, Alison, Benitez Velazquez, Alan Jesus, Verdi, Mary, Villalobos, Michele, Vrittamani, Lakshmi, Wainer, Allison, Wallace, Jermel, Walston, Corrie, Wang, Jiayaho, Ward, Audrey, Warren, Zachary, Washington, Katherine, Westerkamp, Grace, White, Sabrina, Wink, Logan, Winoto, Fiona, Winters, Sarah, Wodka, Ericka, Xavier, Samantha, Xu, Sidi, Yang, Yi, Yang, WhaJames, Yang, Amy, Yinger, Meredith, Yu, Timothy, Zaro, Christopher, Zha, Cindy, Zhang, Haicang, Zhao, Haoquan, Zick, Allyson, Salmon, Lauren Ziegelmayer, Wright, Jessica R., Astrovskaya, Irina, Barns, Sarah D., Goler, Alexandra, Zhou, Xueya, Shu, Chang, Snyder, LeeAnne Green, Han, Bing, Shen, Yufeng, Volfovsky, Natalia, Hall, Jacob B., Feliciano, Pamela, and Chung, Wendy K.

Published
2024
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12. Paediatric strategy forum for medicinal product development of PI3-K, mTOR, AKT and GSK3β inhibitors in children and adolescents with cancer

Author

Pearson, Andrew DJ, DuBois, Steven G., Macy, Margaret E., de Rojas, Teresa, Donoghue, Martha, Weiner, Susan, Knoderer, Holly, Bernardi, Ronald, Buenger, Vickie, Canaud, Guillaume, Cantley, Lewis, Chung, John, Fox, Elizabeth, Friend, John, Glade-Bender, Julia, Gorbatchevsky, Igor, Gore, Lia, Gupta, Abha, Hawkins, Douglas S., Juric, Dejan, Lang, Leigh Anna, Leach, Danielle, Liaw, Danny, Lesa, Giovanni, Ligas, Franca, Lindberg, Gavin, Lindberg, Wendy, Ludwinski, Donna, Marshall, Lynley, Mazar, Andrew, McDonough, Joe, Nysom, Karsten, Ours, Christopher, Pappo, Alberto, Parsons, D.William, Rosenfeld, Amy, Scobie, Nicole, Smith, Malcolm, Taylor, Danielle, Weigel, Brenda, Weinstein, Amy, Karres, Dominik, and Vassal, Gilles

Published
2024
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14. Controlled in vivo intrinsic detrimental effect of d-Limonene channelized by influential proximal interaction through apoptosis and steatosis in embryonic zebrafish (Danio rerio)

Author

Choudhury, Anmol, Lenka, Sudakshya S., Gupta, Abha, Mandal, Deepa, Sinha, Adrija, Saha, Utsa, Naser, Shaikh Sheeran, Singh, Dibyangshee, Simnani, Faizan Zarreen, Ghosh, Aishee, Kumari, Shalini, Kirti, Apoorv, Parija, Tithi, Chauhan, Raghuraj Singh, Kaushik, Nagendra Kumar, Suar, Mrutyunjay, and Verma, Suresh K.

Published
2024
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15. The Effects of a Site-Based Teacher Professional Development Program on Student Learning

Author

Gupta, Abha and Lee, Guang-Lea

Abstract

A mixed methods study is used to investigate the effectiveness of a professional development program intended to enhance teacher knowledge and student learning so as to systematically improve student achievement in elementary literacy. In this study, a large urban school district partnered with a local university to provide intervention in a Title 1, low-performing elementary school. Measures included teacher knowledge and practices based on surveys, classroom observation, and student achievement data. Teachers self-reported their perspectives on school-based teacher training in terms of its significance, requirements, challenges, and possible solutions to teacher training. Schools were selected based on their Adequate Yearly Progress (AYP) in reading/ language arts' status. Adequate Yearly Progress (AYP) is a measurement defined by the federal No Child Left Behind Act that allows the U.S. Department of Education to assess the academic performance of every public school and school district in the country by using the results on standardized tests. The collaboration effort involved supporting the school's goal of enhancing reading, language arts, and math achievement of students by providing interventions targeted toward grades four and five.

Published
2020

16. Addition of temsirolimus to chemotherapy in children, adolescents, and young adults with intermediate-risk rhabdomyosarcoma (ARST1431): a randomised, open-label, phase 3 trial from the Children's Oncology Group

Author

Gupta, Abha A, Xue, Wei, Harrison, Douglas J, Hawkins, Douglas S, Dasgupta, Roshni, Wolden, Suzanne, Shulkin, Barry, Qumseya, Amira, Routh, Jonathan C, MacDonald, Tamara, Feinberg, Shari, Crompton, Brian, Rudzinski, Erin R, Arnold, Michael, and Venkatramani, Raj

Published
2024
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20. Impact of autism genetic risk on brain connectivity: a mechanism for the female protective effect.

Author

Lawrence, Katherine E, Hernandez, Leanna M, Fuster, Emily, Padgaonkar, Namita T, Patterson, Genevieve, Jung, Jiwon, Okada, Nana J, Lowe, Jennifer K, Hoekstra, Jackson N, Jack, Allison, Aylward, Elizabeth, Gaab, Nadine, Van Horn, John D, Bernier, Raphael A, McPartland, James C, Webb, Sara J, Pelphrey, Kevin A, Green, Shulamite A, Bookheimer, Susan Y, Geschwind, Daniel H, Dapretto, Mirella, Nelson, Charles A, Ankenman, Katy, Corrigan, Sarah, Depedro-Mercier, Dianna, Guilford, Desiree, Gupta, Abha R, Jacokes, Zachary, Jeste, Shafali, Keifer, Cara M, Libsack, Erin, Kresse, Anna, MacDonnell, Erin, McDonald, Nicole, Naples, Adam, Neuhaus, Emily, Sullivan, Catherine AW, Tsapelas, Heidi, Torgerson, Carinna M, Ventola, Pamela, Welker, Olivia, and Wolf, Julie

Subjects
Pediatric, Neurosciences, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Genetics, Serious Mental Illness, Behavioral and Social Science, Brain Disorders, Prevention, Aetiology, 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Mental health, Adolescent, Autism Spectrum Disorder, Autistic Disorder, Brain, Brain Mapping, Child, Female, Humans, Magnetic Resonance Imaging, Male, autism spectrum disorder, female protective effect, functional connectivity, imaging genetics, polygenic risk, GENDAAR Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The biological mechanisms underlying the greater prevalence of autism spectrum disorder in males than females remain poorly understood. One hypothesis posits that this female protective effect arises from genetic load for autism spectrum disorder differentially impacting male and female brains. To test this hypothesis, we investigated the impact of cumulative genetic risk for autism spectrum disorder on functional brain connectivity in a balanced sample of boys and girls with autism spectrum disorder and typically developing boys and girls (127 youth, ages 8-17). Brain connectivity analyses focused on the salience network, a core intrinsic functional connectivity network which has previously been implicated in autism spectrum disorder. The effects of polygenic risk on salience network functional connectivity were significantly modulated by participant sex, with genetic load for autism spectrum disorder influencing functional connectivity in boys with and without autism spectrum disorder but not girls. These findings support the hypothesis that autism spectrum disorder risk genes interact with sex differential processes, thereby contributing to the male bias in autism prevalence and proposing an underlying neurobiological mechanism for the female protective effect.

Published
2022

27. Principles and Practices of Teaching English Language Learners

Author

Gupta, Abha

Abstract

This conceptual paper presents diverse approaches and strategies for preparing competent teachers who work with either English Language Learners (ELLs) or students who speak English as a Second Language (ESL). The pedagogical approaches discussed herein include practical and hands-on activities for teachers at any level. Bilingual learning improves ELL's cognitive development as well as their self-esteem. The paper outlines underlying principles for the best practices with an emphasis on ESL students and also to other learning situations and students. Teachers can modify their instructional methods to adjust ELL's learning needs. Specifically, even though the discussion is framed in the context of ESL students in U.S. classrooms, it is applicable to TEFL (Teaching English as a Foreign Language) environments in schools and other centers of learning.

Published
2019

29. A neurogenetic analysis of female autism

Author

Jack, Allison, Sullivan, Catherine AW, Aylward, Elizabeth, Bookheimer, Susan Y, Dapretto, Mirella, Gaab, Nadine, Van Horn, John D, Eilbott, Jeffrey, Jacokes, Zachary, Torgerson, Carinna M, Bernier, Raphael A, Geschwind, Daniel H, McPartland, James C, Nelson, Charles A, Webb, Sara J, Pelphrey, Kevin A, Gupta, Abha R, Ventola, Pamela, Kresse, Anna, Neuhaus, Emily, Corrigan, Sarah, Wolf, Julie, McDonald, Nicole, Ankenman, Katy, Jeste, Shafali, Naples, Adam, Libsack, Erin, Guilford, Desiree, Torgerson, Carinna, Welker, Olivia, Lowe, Jennifer K, MacDonnell, Erin, Tsapelas, Heidi, Depedro-Mercier, Dianna, and Keifer, Cara M

Subjects
Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Genetics, Clinical Research, Brain Disorders, Autism, Human Genome, Mental Health, Mental health, Adolescent, Autism Spectrum Disorder, Child, Corpus Striatum, DNA Copy Number Variations, Female, Genotype, Humans, Magnetic Resonance Imaging, Male, Neuroimaging, Sex Characteristics, autism spectrum disorder, functional MRI, genetics, striatum, social perception, GENDAAR Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Females versus males are less frequently diagnosed with autism spectrum disorder (ASD), and while understanding sex differences is critical to delineating the systems biology of the condition, female ASD is understudied. We integrated functional MRI and genetic data in a sex-balanced sample of ASD and typically developing youth (8-17 years old) to characterize female-specific pathways of ASD risk. Our primary objectives were to: (i) characterize female ASD (n = 45) brain response to human motion, relative to matched typically developing female youth (n = 45); and (ii) evaluate whether genetic data could provide further insight into the potential relevance of these brain functional differences. For our first objective we found that ASD females showed markedly reduced response versus typically developing females, particularly in sensorimotor, striatal, and frontal regions. This difference between ASD and typically developing females does not resemble differences between ASD (n = 47) and typically developing males (n = 47), even though neural response did not significantly differ between female and male ASD. For our second objective, we found that ASD females (n = 61), versus males (n = 66), showed larger median size of rare copy number variants containing gene(s) expressed in early life (10 postconceptual weeks to 2 years) in regions implicated by the typically developing female > female functional MRI contrast. Post hoc analyses suggested this difference was primarily driven by copy number variants containing gene(s) expressed in striatum. This striatal finding was reproducible among n = 2075 probands (291 female) from an independent cohort. Together, our findings suggest that striatal impacts may contribute to pathways of risk in female ASD and advocate caution in drawing conclusions regarding female ASD based on male-predominant cohorts.

Published
2021

30. The impact of surgical resection margins on outcomes for adults with head and neck osteosarcomas: A Canadian sarcoma research and Clinical Collaboration (CanSaRCC) study

Author

Tzelnick, Sharon, Soroka, Hagit Peretz, Tasnim, Najifah, Gilbert, Ralph W., Irish, Jonathan C., Goldstein, David P., Brown, Dale, Gullane, Patrick, Chepeha, Douglas B., Yao, Christopher M.K.L., Sahovaler, Axel, Witterick, Ian J., Monteiro, Eric, Davies, Joel, Huang, Shao Hui, O'Sullivan, Brian, Hahn, Ezra, Hosni, Ali, Razak, Albiruni Abdul, Gupta, Abha A., and de Almeida, John R.

Published
2023
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31. Identification of amygdala-expressed genes associated with autism spectrum disorder

Author

Herrero, Maria Jesus, Velmeshev, Dmitry, Hernandez-Pineda, David, Sethi, Saarthak, Sorrells, Shawn, Banerjee, Payal, Sullivan, Catherine, Gupta, Abha R, Kriegstein, Arnold R, and Corbin, Joshua G

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Genetics, Human Genome, Pediatric, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric Research Initiative, Autism, Behavioral and Social Science, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Mental health, Alleles, Amygdala, Animals, Autism Spectrum Disorder, Biomarkers, Brain, Computational Biology, Databases, Genetic, Disease Susceptibility, Gene Expression, Gene Expression Profiling, Gene Ontology, Gene Regulatory Networks, Genetic Predisposition to Disease, Humans, Mice, Signal Transduction, Transcriptome, Single nucleus RNA sequencing, Brain development, Autism spectrum disorder, ASD genes, Clinical Sciences, Clinical sciences, Biological psychology
Abstract

BackgroundStudies of individuals with autism spectrum disorder (ASD) have revealed a strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD is characterized by social deficits and a range of other phenotypes, implicating complex genetics and involvement of a variety of brain regions. However, how mutations and mis-expression of select gene sets are associated with the behavioral components of ASD remains unknown. We reasoned that for genes to be associated with ASD core behaviors they must be: (1) expressed in brain regions relevant to ASD social behaviors and (2) expressed during the ASD susceptible window of brain development.MethodsFocusing on the amygdala, a brain region whose dysfunction has been highly implicated in the social component of ASD, we mined publicly available gene expression databases to identify ASD-susceptibility genes expressed during human and mouse amygdala development. We found that a large cohort of known ASD susceptibility genes is expressed in the developing human and mouse amygdala. We further performed analysis of single-nucleus RNA-seq (snRNA-seq) data from microdissected amygdala tissue from five ASD and five control human postmortem brains ranging in age from 4 to 20 years to elucidate cell type specificity of amygdala-expressed genes and their dysregulation in ASD.ResultsOur analyses revealed that of the high-ranking ASD susceptibility genes, 80 are expressed in both human and mouse amygdala during fetal to early postnatal stages of development. Our human snRNA-seq analyses revealed cohorts of genes with altered expression in the ASD amygdala postnatally, especially within excitatory neurons, with dysregulated expression of seven genes predicted from our datamining pipeline.LimitationsWe were limited by the ages for which we were able to obtain human tissue; therefore, the results from our datamining pipeline approach will require validation, to the extent possible, in human tissue from earlier developmental stages.ConclusionsOur pipeline narrows down the number of amygdala-expressed genes possibly involved in the social pathophysiology of ASD. Our human single-nucleus gene expression analyses revealed that ASD is characterized by changes in gene expression in specific cell types in the early postnatal amygdala.

Published
2020

32. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism

Author

Cappi, Carolina, Oliphant, Melody E, Péter, Zsanett, Zai, Gwyneth, Conceição do Rosário, Maria, Sullivan, Catherine AW, Gupta, Abha R, Hoffman, Ellen J, Virdee, Manmeet, Olfson, Emily, Abdallah, Sarah B, Willsey, A Jeremy, Shavitt, Roseli G, Miguel, Euripedes C, Kennedy, James L, Richter, Margaret A, and Fernandez, Thomas V

Subjects
Biological Sciences, Genetics, Mental Health, Pediatric, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Biotechnology, Prevention, Intellectual and Developmental Disabilities (IDD), Serious Mental Illness, Autism, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Autistic Disorder, Calcium-Binding Proteins, Child, DNA, DNA-Binding Proteins, Humans, Mutation, Obsessive-Compulsive Disorder, Tourette Syndrome, Transcription Factors, CHD8, Obsessive-compulsive disorder, SCUBE1, Tourette, Whole-exome sequencing, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology
Abstract

BackgroundObsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants.MethodsWe performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios. We estimated the contribution of DN mutations to OCD risk and the number of genes involved. Finally, we looked for gene enrichment in other datasets and canonical pathways.ResultsDN likely gene disrupting and predicted damaging missense variants are enriched in OCD probands (rate ratio, 1.52; p = .0005) and contribute to risk. We identified 2 high-confidence risk genes, each containing 2 DN damaging variants in unrelated probands: CHD8 and SCUBE1. We estimate that 34% of DN damaging variants in OCD contribute to risk and that DN damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring DN damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette's disorder and autism spectrum disorder. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways, biological processes, and disease networks.ConclusionsOur findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants. Sequencing larger cohorts of OCD parent-child trios will reveal more OCD risk genes and will provide needed insights into underlying disease biology.

Published
2020

33. The role of chemotherapy and radiotherapy in localized extraskeletal osteosarcoma.

Author

Heng, Marilyn, Gupta, Abha, Chung, Peter, Healey, John, Vaynrub, Max, Rose, Peter, Houdek, Matthew, Lin, Patrick, Bishop, Andrew, Chen, Yen-Lin, Lozano-Calderon, Santiago, Holt, Ginger, Han, Ilkyu, Biau, David, Niu, Xiaohui, Ferguson, Peter, Wunder, Jay, Bernthal, Nicholas, and Hornicek, Francis

Subjects
Chemotherapy, Extraskeletal osteosarcoma, Radiation therapy, Radiotherapy, Soft-tissue osteosarcoma, Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Osteosarcoma, Prognosis, Retrospective Studies, Risk Factors, Survival Analysis, Young Adult
Abstract

PURPOSE: The role of chemotherapy (CT) and radiotherapy (RT) for management of extraskeletal osteosarcoma (ESOS) remains controversial. We examined disease outcomes for ESOS patients and investigated the association between CT/RT with recurrence and survival. PATIENTS AND METHODS: Retrospective review at 25 international sarcoma centers identified patients ≥18 years old treated for ESOS from 1971 to 2016. Patient/tumour characteristics, treatment, local/systemic recurrence, and survival data were collected. Kaplan-Meier survival and Cox proportional-hazards regression and cumulative incidence competing risks analysis were performed. RESULTS: 370 patients with localized ESOS treated definitively with surgery presented with mainly deep tumours (n = 294, 80%). 122 patients underwent surgical resection alone, 96 (26%) also received CT, 70 (19%) RT and 82 (22%) both adjuvants. Five-year survival for patients with localized ESOS was 56% (95% CI 51%-62%). Almost half of patients (n = 173, 47%) developed recurrence: local 9% (35/370), distant 28% (102/370) or both 10% (36/370). Considering death as a competing event, there was no significant difference in cumulative incidence of local or systemic recurrence between patients who received CT, RT, both or neither (local p = 0.50, systemic p = 0.69). Multiple regression Cox analysis showed a significant association between RT and decreased local recurrence (HR 0.46 [95% CI 0.26-0.80], p = 0.01). CONCLUSION: Although the use of RT significantly decreased local recurrences, CT did not decrease the risk of systemic recurrence, and neither CT, nor RT nor both were associated with improved survival in patients with localized ESOS. Our results do not support the use of CT; however, adjuvant RT demonstrates benefit in patients with locally resectable ESOS.

Published
2020

34. Parenting Stress and Its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation

Author

Voliovitch, Yair, Leventhal, John M., Fenick, Ada M., Gupta, Abha R., Feinberg, Emily, Hickey, Emily J., Shabanova, Veronika, and Weitzman, Carol

Abstract

Parents of children with autism spectrum disorder (ASD) show increased levels of parenting stress, but only one study has examined this association before a diagnostic evaluation. We conducted a cross-sectional study of parenting stress in 317 low SES parents with children at-risk for ASD before a diagnostic evaluation. Multiple regression modeling evaluated the associations between parenting stress and parent and child factors. Parenting stress was negatively associated with social support and positively associated with active avoidance coping and parental worry. However, parenting stress was not associated with the child's ASD symptom severity or adaptive functioning, except for self-direction. Findings suggest parenting stress among parents of children at risk of ASD should be assessed prior to diagnosis. [This study was conducted in collaboration with the Developmental and Behavioral Pediatrics Research Network (DBPNet).]

Published
2021
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41. Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation

Author

Voliovitch, Yair, Leventhal, John M., Fenick, Ada M., Gupta, Abha R., Feinberg, Emily, Hickey, Emily J., and Shabanova, Veronika

Subjects
Pervasive developmental disorders -- Diagnosis -- Risk factors, Parenting -- Psychological aspects -- Health aspects, Stress (Psychology) -- Demographic aspects -- Health aspects, Health
Abstract

Parents of children with autism spectrum disorder (ASD) show increased levels of parenting stress, but only one study has examined this association before a diagnostic evaluation. We conducted a cross-sectional study of parenting stress in 317 low SES parents with children at-risk for ASD before a diagnostic evaluation. Multiple regression modeling evaluated the associations between parenting stress and parent and child factors. Parenting stress was negatively associated with social support and positively associated with active avoidance coping and parental worry. However, parenting stress was not associated with the child's ASD symptom severity or adaptive functioning, except for self-direction. Findings suggest parenting stress among parents of children at risk of ASD should be assessed prior to diagnosis., Author(s): Yair Voliovitch [sup.1] [sup.5] , John M. Leventhal [sup.1] , Ada M. Fenick [sup.1] , Abha R. Gupta [sup.1] , Emily Feinberg [sup.2] [sup.3] , Emily J. Hickey [sup.2] [...]

Published
2021
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43. Retroperitoneal and Extremity Soft Tissue Sarcomas

Author

Callegaro, Dario, Fasih, Samir, Catton, Charles, Dickson, Brendan C., Ferguson, Peter C., Gupta, Abha A., Gladdy, Rebecca A., Wright, Frances C., editor, Escallon, Jaime M., editor, Cukier, Moises, editor, Tsang, Melanie E., editor, and Hameed, Usmaan, editor

Published
2020
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48. Cultivating Cross‐Cultural Connections through Language Learning Circles in Early Childhood Programs.

Author

Hernandez, Joy and Gupta, Abha

Subjects
*CHILDREN'S language, *EARLY childhood education, *PRESCHOOL education, *SECOND language acquisition, *SPANISH language, *CULTURAL relations, *CULTURAL studies
Abstract

Spanish is the second most common language among US children aged 5–17, with 26.8% speaking it at home. To foster cultural understanding and promote positive relationships, it's crucial to introduce young children to different languages and cultures. Preschool language education can cultivate respect and empathy, building more inclusive communities. Culturally responsive education equips children with skills to value diversity, creating a harmonious cultural climate. This article highlights the importance of learning another language (e.g., Spanish) and introduces Language Learning Circles (LCC) for preschoolers. Research indicates ages 3–6 are optimal for language acquisition, emphasizing the need for early exposure to enhance learning, and cultural appreciation. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Tazemetostat in advanced epithelioid sarcoma with loss of INI1/SMARCB1: an international, open-label, phase 2 basket study

Author

Gounder, Mrinal, Schöffski, Patrick, Jones, Robin L, Agulnik, Mark, Cote, Gregory M, Villalobos, Victor M, Attia, Steven, Chugh, Rashmi, Chen, Tom Wei-Wu, Jahan, Thierry, Loggers, Elizabeth T, Gupta, Abha, Italiano, Antoine, Demetri, George D, Ratan, Ravin, Davis, Lara E, Mir, Olivier, Dileo, Palma, Van Tine, Brian A, Pressey, Joseph G, Lingaraj, Trupti, Rajarethinam, Anand, Sierra, Laura, Agarwal, Shefali, and Stacchiotti, Silvia

Published
2020
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50. Addressing the Rising Trend in Early-Age-Onset Cancers in Canada.

Author

Wildgoose, Petra, Servidio-Italiano, Filomena, Raphael, Michael J., Slovinec D'Angelo, Monika, Macaulay, Cassandra, Kassam, Shaqil, Nixon, Nancy, Perea, José, Hamilton, Sarah, Ramjeesingh, Ravi, Gill, Sharlene, Pollett, Aaron, Ogino, Shuji, Ugai, Tomotaka, and Gupta, Abha

Subjects
PATIENT participation, EARLY detection of cancer, SUPPORT groups, PATIENTS' families, SELF-efficacy
Abstract

A multi-disciplinary symposium on early-age onset cancer (EAOC) was held in October 2023 to explore challenges experienced by this rapidly growing population. A major outcome of the symposium was recognition of the remarkable similarities of EAOC patients' journeys across cancer sites. Prevention and early detection of cancer are hindered by a lack of awareness among patients and family doctors that cancer can and does occur in younger persons. Distinct characteristics of the disease—such as a later stage at diagnosis and more aggressive tumor biology—require more potent treatments, which result in profound physical and psychosocial consequences that are unique to this age group. EAOC patient empowerment emerged as another key theme of the symposium. The development of a greater number of specialized clinics was called for, and patient support groups were recognized for the vital role they play in empowering patients and their families. Leading-edge medical advancements hold tremendous hope across the spectrum of EAOC care. New technologies based on genomic profiling, immunotherapy and microbiome alteration contribute to the development of highly effective, personalized approaches to treatment. All symposium participants expressed their commitment to speak with one resounding voice to advocate for equitable access to leading care practices for EAOC patients; thus, a fourth symposium is planned for November 2024. [ABSTRACT FROM AUTHOR]

Published
2024
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