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3. Genomic architecture of autism from comprehensive whole-genome sequence annotation

Author

Trost, Brett, Thiruvahindrapuram, Bhooma, Chan, Ada J.S., Engchuan, Worrawat, Higginbotham, Edward J., Howe, Jennifer L., Loureiro, Livia O., Reuter, Miriam S., Roshandel, Delnaz, Whitney, Joe, Zarrei, Mehdi, Bookman, Matthew, Somerville, Cherith, Shaath, Rulan, Abdi, Mona, Aliyev, Elbay, Patel, Rohan V., Nalpathamkalam, Thomas, Pellecchia, Giovanna, Hamdan, Omar, Kaur, Gaganjot, Wang, Zhuozhi, MacDonald, Jeffrey R., Wei, John, Sung, Wilson W.L., Lamoureux, Sylvia, Hoang, Ny, Selvanayagam, Thanuja, Deflaux, Nicole, Geng, Melissa, Ghaffari, Siavash, Bates, John, Young, Edwin J., Ding, Qiliang, Shum, Carole, D'Abate, Lia, Bradley, Clarrisa A., Rutherford, Annabel, Aguda, Vernie, Apresto, Beverly, Chen, Nan, Desai, Sachin, Du, Xiaoyan, Fong, Matthew L.Y., Pullenayegum, Sanjeev, Samler, Kozue, Wang, Ting, Ho, Karen, Paton, Tara, Pereira, Sergio L., Herbrick, Jo-Anne, Wintle, Richard F., Fuerth, Jonathan, Noppornpitak, Juti, Ward, Heather, Magee, Patrick, Al Baz, Ayman, Kajendirarajah, Usanthan, Kapadia, Sharvari, Vlasblom, Jim, Valluri, Monica, Green, Joseph, Seifer, Vicki, Quirbach, Morgan, Rennie, Olivia, Kelley, Elizabeth, Masjedi, Nina, Lord, Catherine, Szego, Michael J., Zawati, Ma'n H., Lang, Michael, Strug, Lisa J., Marshall, Christian R., Costain, Gregory, Calli, Kristina, Iaboni, Alana, Yusuf, Afiqah, Ambrozewicz, Patricia, Gallagher, Louise, Amaral, David G., Brian, Jessica, Elsabbagh, Mayada, Georgiades, Stelios, Messinger, Daniel S., Ozonoff, Sally, Sebat, Jonathan, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Kushki, Azadeh, Frazier, Thomas W., Vorstman, Jacob A.S., Fakhro, Khalid A., Fernandez, Bridget A., Lewis, M.E. Suzanne, Weksberg, Rosanna, Fiume, Marc, Yuen, Ryan K.C., Anagnostou, Evdokia, Sondheimer, Neal, Glazer, David, Hartley, Dean M., and Scherer, Stephen W.

Published
2022
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6. Trajectories of Autism Symptom Severity Change during Early Childhood

Author

Waizbard-Bartov, Einat, Ferrer, Emilio, Young, Gregory S., Heath, Brianna, Rogers, Sally, Wu Nordahl, Christine, Solomon, Marjorie, and Amaral, David G.

Abstract

Autism symptom severity change was evaluated during early childhood in 125 children diagnosed with autism spectrum disorder (ASD). Children were assessed at approximately 3 and 6 years of age for autism symptom severity, IQ and adaptive functioning. Each child was assigned a change score, representing the difference between ADOS Calibrated Severity Scores (CSS) at the two ages. A Decreased Severity Group (28.8%) decreased by 2 or more points; a Stable Severity Group (54.4%) changed by 1 point or less; and an Increased Severity Group (16.8%) increased by 2 or more points. Girls tended to decrease in severity more than boys and increase in severity less than boys. There was no clear relationship between intervention history and membership in the groups.

Published
2021
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11. Alterations in Retrotransposition, Synaptic Connectivity, and Myelination Implicated by Transcriptomic Changes Following Maternal Immune Activation in Nonhuman Primates

Author

Page, Nicholas F., Gandal, Michael J., Estes, Myka L., Cameron, Scott, Buth, Jessie, Parhami, Sepideh, Ramaswami, Gokul, Murray, Karl, Amaral, David G., Van de Water, Judy A., Schumann, Cynthia M., Carter, Cameron S., Bauman, Melissa D., McAllister, A. Kimberley, and Geschwind, Daniel H.

Published
2021
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13. Transcription factor 4 expression in the developing non-human primate brain: a comparative analysis with the mouse brain.

Author

Burette, Alain C., Vihma, Hanna, Smith, Audrey L., Ozarkar, Siddhi S., Bennett, Jeff, Amaral, David G., and Philpot, Benjamin D.

Subjects
TRANSCRIPTION factors, GENE expression, RHESUS monkeys, DENTATE gyrus, YOUNG adults, MACAQUES
Abstract

Transcription factor 4 (TCF4) has been implicated in a range of neuropsychiatric disorders, including major depressive disorder, bipolar disorder, and schizophrenia. Mutations or deletions in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare neurodevelopmental disorder. A detailed understanding of its spatial expression across the developing brain is necessary for comprehending TCF4 biology and, by extension, to develop effective treatments for TCF4-associated disorders. However, most current knowledge is derived from mouse models, which are invaluable for preclinical studies but may not fully capture the complexities of human neuropsychiatric phenotypes. This study compared TCF4 expression in the developing mouse brain to its regional and cellular expression patterns in normal prenatal, neonatal, and young adult rhesus macaque brains, a species more relevant to human neurodevelopment. While the general developmental expression of TCF4 is largely conserved between macaques and mice, we saw several interspecies differences. Most notably, a distinct layered pattern of TCF4 expression was clear in the developing macaque neocortex but largely absent in the mouse brain. High TCF4 expression was seen in the inner dentate gyrus of adult mice but not in macaques. Conversely, TCF4 expression was higher in the adult macaque striatum compared to the mouse striatum. Further research is needed to show the significance of these interspecies differences. Still, they underscore the importance of integrating rodent and primate studies to comprehensively understand TCF4 function and its implications for human disorders. Moreover, the primate-specific expression patterns of TCF4 will inform genetic and other therapeutic strategies to treat TCF4-associated disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Stereological Analysis of the Rhesus Monkey Perirhinal and Parahippocampal Cortices.

Author

Villard, Justine, Chareyron, Loïc J., Banta Lavenex, Pamela, Amaral, David G., and Lavenex, Pierre

Abstract

The perirhinal and parahippocampal cortices are key components of the medial temporal lobe memory system. Despite their essential roles in mnemonic and perceptual functions, there is limited quantitative information regarding their structural characteristics. Here, we implemented design‐based stereological techniques to provide estimates of neuron number, neuronal soma size, and volume of the different layers and subdivisions of the perirhinal and parahippocampal cortices in adult macaque monkeys (Macaca mulatta, 5–9 years of age). We found that areas 36r and 36c of the perirhinal cortex and areas TF and TH of the parahippocampal cortex exhibit relatively large superficial layers, which are characteristic of the laminar organization of higher order associational cortices. In contrast, area 35 of the perirhinal cortex exhibits relatively large deep layers. Although neuronal soma size varies between subdivisions and layers, neurons are generally larger in the perirhinal cortex than in the parahippocampal cortex and even larger in the entorhinal cortex. These morphological characteristics are consistent with the hierarchical organization of these cortices within the medial temporal lobe. Comparing data in rats, monkeys, and humans, we found species differences in the relative size of these structures, showing that the perirhinal and parahippocampal cortices have expanded in parallel to the cerebral cortex and may play a greater role in the integration of information in the neocortical–hippocampal loop in primates. Altogether, these normative data provide an essential reference to extrapolate findings from experimental studies in animals and create realistic models of the medial temporal lobe memory system. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Genome-wide detection of tandem DNA repeats that are expanded in autism

Author

Trost, Brett, Engchuan, Worrawat, Nguyen, Charlotte M., Thiruvahindrapuram, Bhooma, Dolzhenko, Egor, Backstrom, Ian, Mirceta, Mila, Mojarad, Bahareh A., Yin, Yue, Dov, Alona, Chandrakumar, Induja, Prasolava, Tanya, Shum, Natalie, Hamdan, Omar, Pellecchia, Giovanna, Howe, Jennifer L., Whitney, Joseph, Klee, Eric W., Baheti, Saurabh, Amaral, David G., Anagnostou, Evdokia, Elsabbagh, Mayada, Fernandez, Bridget A., Hoang, Ny, Lewis, M. E. Suzanne, Liu, Xudong, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Glazer, David, Hartley, Dean, Stewart, A. Keith, Eberle, Michael A., Sato, Nozomu, Pearson, Christopher E., Scherer, Stephen W., and Yuen, Ryan K. C.

Published
2020
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18. Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.

Author

Ramirez, Chavely Gonzalez, Salvador, Sarah G., Rekha Patel, Ridthi Kartik, Clark, Sarah, Miller, Noah W., James, Lucas M., Ringelberg, Nicholas W., Simon, Jeremy M., Bennett, Jeffrey, Amaral, David G., Burette, Alain C., and Philpot, Benjamin D.

Subjects
RHESUS monkeys, REGIONALISM (International organization), ANGELMAN syndrome, NEURON development, NEUROGLIA, GENE silencing, GESTATIONAL age
Abstract

Angelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited UBE3A allele, leading to a loss of UBE3A protein expression in neurons. The paternally-inherited UBE3A allele is epigenetically silenced in neurons during development by a noncoding transcript (UBE3A-ATS). The absence of neuronal UBE3A results in severe neurological symptoms, including speech and language impairments, intellectual disability, and seizures. While no cure exists, therapies aiming to restore UBE3A function--either by gene addition or by targeting UBE3A-ATS--are under development. Progress in developing these treatments relies heavily on inferences drawn from mouse studies about the function of UBE3A in the human brain. To aid translational efforts and to gain an understanding of UBE3A and UBE3A-ATS biology with greater relevance to human neurodevelopmental contexts, we investigated UBE3A and UBE3A-ATS expression in the developing brain of the rhesus macaque, a species that exhibits complex social behaviors, resembling aspects of human behavior to a greater degree than mice. Combining immunohistochemistry and in situ hybridization, we mapped UBE3A and UBE3A-ATS regional and cellular expression in normal prenatal, neonatal, and adolescent rhesus macaque brains. We show that key hallmarks of UBE3A biology, well-known in rodents, are also present in macaques, and suggest paternal UBE3A silencing in neurons--but not glial cells--in the macaque brain, with onset between gestational day 48 and 100. These findings support proposals that early-life, perhaps even prenatal, intervention is optimal for overcoming the maternal allele loss of UBE3A linked to AS. [ABSTRACT FROM AUTHOR]

Published
2024
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22. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Author

Feliciano, Pamela, Daniels, Amy M., Green Snyder, LeeAnne, Beaumont, Amy, Camba, Alexies, Esler, Amy, Gulsrud, Amanda G., Mason, Andrew, Gutierrez, Anibal, Nicholson, Amy, Paolicelli, Anna Marie, McKenzie, Alexander P., Rachubinski, Angela L., Stephens, Alexandra N., Simon, Andrea R., Stedman, Amy, Shocklee, Amanda D., Swanson, Amy, Finucane, Brenda, Hilscher, Brittani A., Hauf, Brenda, O’Roak, Brian J., McKenna, Brooke, Robertson, Beverly E., Rodriguez, Barbara, Vernoia, Brianna M., Van Metre, Bonnie, Bradley, Catherine, Cohen, Cheryl, Erickson, Craig A., Harkins, Christina, Hayes, Caitlin, Lord, Catherine, Martin, Christa Lese, Ortiz, Crissy, Ochoa-Lubinoff, Cesar, Peura, Christine, Rice, Catherine E., Rosenberg, Cordelia R., Smith, Christopher J., Thomas, Carrie, Taylor, Cora M., White, Loran Casey, Walston, Corrie H., Amaral, David G., Coury, Daniel Lee, Sarver, Dustin E., Istephanous, Dalia, Li, Deana, Nugyen, Dzung Cong, Fox, Emily A., Butter, Eric M., Berry-Kravis, Elizabeth, Courchesne, Eric, Fombonne, Eric J., Hofammann, Eugenia, Lamarche, Elena, Wodka, Ericka L., Matthews, Emily T., O’Connor, Eirene, Palen, Emily, Miller, Fiona, Dichter, Gabriel S., Marzano, Gabriela, Stein, Gail, Hutter, Hanna, Kaplan, Hannah E., Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Gerdts, Jennifer A., Cubells, Joseph F., Cordova, Jeanette M., Gunderson, Jaclyn, Lillard, Joseph, Manoharan, Julie, McCracken, James T., Michaelson, Jacob J., Neely, Jason, Orobio, Jessica, Pandey, Juhi, Piven, Joseph, Scherr, Jessica, Sutcliffe, James S., Tjernagel, Jennifer, Wallace, Jermel, Callahan, Kristen, Dent, Katherine, Schweers, Kathryn A., Hamer, Kira E., Law, J. Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G., Pierce, Karen L., Roeder, Katherine, Abbeduto, Leonard J., Berry, Leandra N., Cartner, Lindsey A., Coppola, Leigh A., Carpenter, Laura, Cordeiro, Lisa, DeMarco, Lindsey, Grosvenor, Luke P., Higgins, Lorrin, Huang-Storms, Lark Y., Hosmer-Quint, Landon, Herbert, Lynette M., Kasparson, Lauren, Prock, Lisa M., Pacheco, Lillian D., Raymond, Laurie, Simon, Laura, Soorya, Latha V., Wasserburg, Lucy, Lazar, Maya, Alessandri, Michael, Brown, Melissa, Currin, Mary Hannah, Gwynette, McLeod F., Heyman, Michelle, Hale, Melissa N., Jones, Mark, Jordy, Michelle, Morrier, Michael J., Sahin, Mustafa, Siegel, Matthew S., Verdi, Mary, Parlade, Meaghan Venezia, Yinger, Meredith, Bardett, Nicole, Hanna, Nathan, Harris, Nina, Pottschmidt, Natalie, Russo-Ponsaran, Nicole, Takahashi, Nicole, Ousley, Opal Y., Juarez, A. Pablo, Manning, Patricia, Annett, Robert D., Bernier, Raphael A., Clark, Renee D., Landa, Rebecca J., Goin-Kochel, Robin P., Remington, Rick, Schultz, Robert T., Brewster, Stephanie J., Booker, Stephanie, Carpenter, Sarah, Eldred, Sara, Francis, Sunday, Friedman, Sandra L., Horner, Susannah, Hepburn, Susan, Jacob, Suma, Kanne, Stephen, Lee, Soo J., Mastel, Sarah A., Plate, Samantha, Qiu, Shanping, Sandhu, Sophia, Thompson, Samantha, White, Sabrina, Myers, Vincent J., Singh, Vini, Yang, Wha S., Warren, Zachary, Amatya, Alpha, Ace, Andrea J., Chatha, Ahmad S., Lash, Alex E., Negron, Ben, Rigby, Chris, Ridenour, Curtis, Stock, Colleen M., Schmidt, Danielle, Fisk, Ian, Acampado, John, Nestle, Jay L., Nestle, Jay A., Layman, Kevin, Butler, Martin E., Kent, Matt, Mallardi, Malcolm D., Carriero, Nicholas, Lawson, Noah, Volfovsky, Natalia, Edgar, Ron, Marini, Richard, Rana, Rishiraj, Ganesan, Swami, Shah, Swapnil, Ramsey, Tyler, Chin, Wubin, Jensen, William, Krentz, Anthony D., Gruber, Angela J., Sabo, Aniko, Salomatov, Andrei, Eng, Christine, Muzny, Donna, Astrovskaya, Irina, Gibbs, Richard A., Han, Xinwei, Shen, Yufeng, Reichardt, Louis F., and Chung, Wendy K.

Published
2018
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23. Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism

Author

Shen, Mark D., Kim, Sun Hyung, McKinstry, Robert C., Gu, Hongbin, Hazlett, Heather C., Nordahl, Christine W., Emerson, Robert W., Shaw, Dennis, Elison, Jed T., Swanson, Meghan R., Fonov, Vladimir S., Gerig, Guido, Dager, Stephen R., Botteron, Kelly N., Paterson, Sarah, Schultz, Robert T., Evans, Alan C., Estes, Annette M., Zwaigenbaum, Lonnie, Styner, Martin A., Amaral, David G., Piven, Joseph, Piven, J., Hazlett, H.C., Chappell, C., Dager, S., Estes, A., Shaw, D., Botteron, K., McKinstry, R., Constantino, J., Pruett, J., Schultz, R., Zwaigenbaum, L., Elison, J., Evans, A.C., Collins, D.L., Pike, G.B., Fonov, V., Kostopoulos, P., Das, S., Gerig, G., Styner, M., and Gu, H.

Published
2017
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26. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, and Eichler, Evan E.

Published
2020
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27. Changes in the severity of autism symptom domains are related to mental health challenges during middle childhood.

Author

Waizbard-Bartov, Einat, Ferrer, Emilio, Heath, Brianna, Andrews, Derek S, Rogers, Sally, Kerns, Connor M, Wu Nordahl, Christine, Solomon, Marjorie, and Amaral, David G

Subjects
MENTAL health, ATTENTION-deficit hyperactivity disorder, RESEARCH funding, AUTISM, INTERVIEWING, QUESTIONNAIRES, SEVERITY of illness index, ANXIETY, BEHAVIOR, PARENT attitudes, DESCRIPTIVE statistics, COMMUNICATION, SOCIAL skills, COGNITION, COMORBIDITY, SYMPTOMS, CHILDREN
Abstract

Many autistic children experience changes in core symptom severity across middle childhood, when co-occurring mental health conditions emerge. We evaluated this relationship in 75 autistic children from 6 to 11 years old. Autism symptom severity change was evaluated for total autism symptoms using the autism diagnostic observation schedule calibrated severity score, as well as social-communication symptoms calibrated severity score, and restricted/repetitive behaviors calibrated severity score. Children were grouped based on their symptom severity change patterns. Mental health symptoms (attention-deficit hyperactivity disorder, anxiety, disruptive behavior problems) were assessed via parental interview and questionnaire and compared across the groups. Co-occurring mental health symptoms were more strongly associated with change in social-communication symptom or restricted/repetitive behavior severity than with total autism symptom severity. Two relevant groups were identified. The social-communication symptom-increasing-severity-group (21.3%) had elevated and increasing levels of anxiety, attention-deficit hyperactivity disorder, and disruptive behavior problems compared with children with stable social-communication symptom severity. The restricted/repetitive behavior-decreasing-severity-group (22.7%) had elevated and increasing levels of anxiety; 94% of these children met criteria for an anxiety disorder. Autism symptom severity change during middle childhood is associated with co-occurring mental health symptoms. Children that increase in social-communication symptom severity are also likely to demonstrate greater psychopathology, while decreases in restricted/repetitive behavior severity are associated with higher levels of anxiety. For many autistic children, the severity of their autism symptoms changes during middle childhood. We studied whether these changes are associated with the emergence of other mental health challenges such as anxiety and attention-deficit hyperactivity disorder. Children who had increased social-communication challenges had more anxiety and attention-deficit hyperactivity disorder symptoms and disruptive behavior problems than other children. Children who decreased their restricted and repetitive behaviors, on the contrary, had more anxiety. We discuss why these changes in autism symptoms may lead to increases in other mental health concerns. [ABSTRACT FROM AUTHOR]

Published
2024
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32. The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository

Author

Jernigan, Terry L., Brown, Timothy T., Hagler, Donald J., Jr., Akshoomoff, Natacha, Bartsch, Hauke, Newman, Erik, Thompson, Wesley K., Bloss, Cinnamon S., Murray, Sarah S., Schork, Nicholas, Kennedy, David N., Kuperman, Joshua M., McCabe, Connor, Chung, Yoonho, Libiger, Ondrej, Maddox, Melanie, Casey, B.J., Chang, Linda, Ernst, Thomas M., Frazier, Jean A., Gruen, Jeffrey R., Sowell, Elizabeth R., Kenet, Tal, Kaufmann, Walter E., Mostofsky, Stewart, Amaral, David G., and Dale, Anders M.

Published
2016
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34. The analysis of H.M.'s brain: A brief review of status and plans for future studies and tissue archive.

Author

Amaral, David G., Augustinack, Jean, Barbas, Helen, Frosch, Matthew, Gabrieli, John, Luebke, Jennifer, Rakic, Pasko, Rosene, Douglas, and Rushmore, Richard J.

Subjects
*HISTOLOGY, *MAGNETIC resonance imaging, *MICROSCOPY, *TISSUES, *ARCHIVES
Abstract

The famous amnesic patient Henry Molaison (H.M.) died on December 2, 2008. After extensive in situ magnetic resonance imaging in Boston, his brain was removed at autopsy and transported to the University of California San Diego. There the brain was prepared for frozen sectioning and cut into 2401, 70 μm coronal slices. While preliminary analyses of the brain sections have been reported, a comprehensive microscopic neuroanatomical analysis of the state of H.M.'s brain at the time of his death has not yet been published. The brain tissue and slides were subsequently moved to the University of California Davis and the slides digitized at high resolution. Initial stages of producing a website for the public viewing of the images were also carried out. Recently, the slides, digital images, and tissue have been transferred to Boston University for permanent archiving. A new steering committee has been established and plans are in place for completion of a freely accessible H.M. website. Research publications on the microscopic anatomy and neuropathology of H.M.'s brain at the time of his death are also planned. We write this commentary to provide the hippocampus and memory neuroscience communities with a brief summary of what has transpired following H.M.'s death and outline plans for future publications and a tissue archive. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Author

Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, and Eichler, Evan E.

Published
2014
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39. Brief Report: Antibodies Reacting to Brain Tissue in Basque Spanish Children with Autism Spectrum Disorder and Their Mothers

Author

Rossi, Christy C., Fuentes, Joaquin, Van de Water, Judy, and Amaral, David G.

Abstract

Previous investigations found that a subset of children with autism spectrum disorder (ASD) in California possessed plasma autoantibodies that reacted intensely with brain interneurons or other neural profiles. Moreover, for several cohorts of American women, maternal autoantibody reactivity to specific fetal brain proteins was highly specific to mothers of children with ASD. We sought to determine whether children and their mothers from a regionally specific cohort from the Basque Country of Spain demonstrated similar reactivity. Some children's plasma reacted to interneurons, beaded axons or other neural profiles with no difference in the occurrence of these antibodies in children with or without ASD. Findings on the maternal antibodies confirmed previous research; plasma reactivity to fetal brain a combination of proteins at 37 and 73 kDa or 39 and 73 kDa was found exclusively in mothers of children with ASD.

Published
2014
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41. Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.

Author

Smith, Alan M., Donley, Elizabeth L. R., Ney, Denise M., Amaral, David G., Burrier, Robert E., and Natowicz, Marvin R.

Subjects
LIQUID chromatography-mass spectrometry, METABOLOMICS, AUTISM spectrum disorders, AUTISM, METABOLIC regulation, BIOENERGETICS
Abstract

Autism Spectrum Disorder (ASD or autism) is a phenotypically and etiologically heterogeneous condition. Identifying biomarkers of clinically significant metabolic subtypes of autism could improve understanding of its underlying pathophysiology and potentially lead to more targeted interventions. We hypothesized that the application of metabolite-based biomarker techniques using decision thresholds derived from quantitative measurements could identify autism-associated subpopulations. Metabolomic profiling was carried out in a case-control study of 499 autistic and 209 typically developing (TYP) children, ages 18-48 months, enrolled in the Children's Autism Metabolome Project (CAMP; ClinicalTrials. gov Identifier: NCT02548442). Fifty-four metabolites, associated with amino acid, organic acid, acylcarnitine and purine metabolism as well as microbiomeassociated metabolites, were quantified using liquid chromatography-tandem mass spectrometry. Using quantitative thresholds, the concentrations of 4 metabolites and 149 ratios of metabolites were identified as biomarkers, each identifying subpopulations of 4.5-11% of the CAMP autistic population. A subset of 42 biomarkers could identify CAMP autistic individuals with 72% sensitivity and 90% specificity. Many participants were identified by several metabolic biomarkers. Using hierarchical clustering, 30 clusters of biomarkers were created based on participants' biomarker profiles. Metabolic changes associated with the clusters suggest that altered regulation of cellular metabolism, especially of mitochondrial bioenergetics, were common metabolic phenotypes in this cohort of autistic participants. Autism severity and cognitive and developmental impairment were associated with increased lactate, many lactate containing ratios, and the number of biomarker clusters a participant displayed. These studies provide evidence that metabolic phenotyping is feasible and that defined autistic subgroups can lead to enhanced understanding of the underlying pathophysiology and potentially suggest pathways for targeted metabolic treatments. [ABSTRACT FROM AUTHOR]

Published
2023
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42. Structural plasticity in the entorhinal and perirhinal cortices following hippocampal lesions in rhesus monkeys.

Author

Villard, Justine, Chareyron, Loïc J., Piguet, Olivia, Lambercy, Pauline, Lonchampt, Gianni, Banta Lavenex, Pamela, Amaral, David G., and Lavenex, Pierre

Subjects
ENTORHINAL cortex, RHESUS monkeys, HIPPOCAMPUS (Brain), NEURONS, TEMPORAL lobe, AMYGDALOID body
Abstract

Immature neurons expressing the Bcl2 protein are present in various regions of the mammalian brain, including the amygdala and the entorhinal and perirhinal cortices. Their functional role is unknown but we have previously shown that neonatal and adult hippocampal lesions increase their differentiation in the monkey amygdala. Here, we assessed whether hippocampal lesions similarly affect immature neurons in the entorhinal and perirhinal cortices. Since Bcl2‐positive cells were found mainly in areas Eo, Er, and Elr of the entorhinal cortex and in layer II of the perirhinal cortex, we also used Nissl‐stained sections to determine the number and soma size of immature and mature neurons in layer III of area Er and layer II of area 36 of the perirhinal cortex. We found different structural changes in these regions following hippocampal lesions, which were influenced by the time of the lesion. In neonate‐lesioned monkeys, the number of immature neurons in the entorhinal and perirhinal cortices was generally higher than in controls. The number of mature neurons was also higher in layer III of area Er of neonate‐lesioned monkeys but no differences were found in layer II of area 36. In adult‐lesioned monkeys, the number of immature neurons in the entorhinal cortex was lower than in controls but did not differ from controls in the perirhinal cortex. The number of mature neurons in layer III of area Er did not differ from controls, but the number of small, mature neurons in layer II of area 36 was lower than in controls. In sum, hippocampal lesions impacted populations of mature and immature neurons in discrete regions and layers of the entorhinal and perirhinal cortices, which are interconnected with the amygdala and provide major cortical inputs to the hippocampus. These structural changes may contribute to some functional recovery following hippocampal injury in an age‐dependent manner. [ABSTRACT FROM AUTHOR]

Published
2023
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43. Anxiety is related to indices of cortical maturation in typically developing children and adolescents

Author

Newman, Erik, Thompson, Wesley K., Bartsch, Hauke, Hagler, Jr., Donald J., Chen, Chi-Hua, Brown, Timothy T., Kuperman, Joshua M., McCabe, Connor, Chung, Yoonho, Libiger, Ondrej, Akshoomoff, Natacha, Bloss, Cinnamon S., Casey, B. J., Chang, Linda, Ernst, Thomas M., Frazier, Jean A., Gruen, Jeffrey R., Kennedy, David N., Murray, Sarah S., Sowell, Elizabeth R., Schork, Nicholas, Kenet, Tal, Kaufmann, Walter E., Mostofsky, Stewart, Amaral, David G., Dale, Anders M., and Jernigan, Terry L.

Published
2016
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45. Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children

Author

Eicher, John D., Montgomery, Angela M., Akshoomoff, Natacha, Amaral, David G., Bloss, Cinnamon S., Libiger, Ondrej, Schork, Nicholas J., Darst, Burcu F., Casey, B. J., Chang, Linda, Ernst, Thomas, Frazier, Jean, Kaufmann, Walter E., Keating, Brian, Kenet, Tal, Kennedy, David, Mostofsky, Stewart, Murray, Sarah S., Sowell, Elizabeth R., Bartsch, Hauke, Kuperman, Joshua M., Brown, Timothy T., Hagler, Jr., Donald J., Dale, Anders M., Jernigan, Terry L., Gruen, Jeffrey R., and on behalf of the Pediatric Imaging Neurocognition Genetics study

Published
2016
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47. Long-term influence of normal variation in neonatal characteristics on human brain development

Author

Walhovd, Kristine B., Fjell, Anders M., Brown, Timothy T., Kuperman, Joshua M., Chung, Yoonho, Hagler,, Donald J., Roddey, J. Cooper, Erhart, Matthew, McCabe, Connor, Akshoomoff, Natacha, Amaral, David G., Bloss, Cinnamon S., Libiger, Ondrej, Schork, Nicholas J., Darst, Burcu F., Casey, B. J., Chang, Linda, Ernst, Thomas M., Frazier, Jean, Gruen, Jeffrey R., Kaufmann, Walter E., Murray, Sarah S., van Zijl, Peter, Mostofsky, Stewart, and Dale, Anders M.

Published
2012

48. Multimodal imaging of the self-regulating developing brain

Author

Fjell, Anders M., Walhovd, Kristine Beate, Brown, Timothy T., Kuperman, Joshua M., Chung, Yoonho, Hagler,, Donald J., Venkatraman, Vijay, Roddey, J. Cooper, Erhart, Matthew, McCabe, Connor, Akshoomoff, Natacha, Amaral, David G., Bloss, Cinnamon S., Libiger, Ondrej, Darst, Burcu F., Schork, Nicholas J., Casey, B. J., Chang, Linda, Ernst, Thomas M., Gruen, Jeffrey R., Kaufmann, Walter E., Kenet, Tal, Frazier, Jean, Murray, Sarah S., Sowell, Elizabeth R., van Zijl, Peter, Mostofsky, Stewart, Jernigan, Terry L., and Dale, Anders M.

Published
2012

49. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans

Author

Bakken, Trygve E., Roddey, J. Cooper, Djurovic, Srdjan, Akshoomoff, Natacha, Amaral, David G., Bloss, Cinnamon S., Casey, B. J., Chang, Linda, Ernst, Thomas M., Gruen, Jeffrey R., Jernigan, Terry L., Kaufmann, Walter E., Kenet, Tal, Kennedy, David N., Kuperman, Joshua M., Murray, Sarah S., Sowell, Elizabeth R., Rimol, Lars M., Mattingsdal, Morten, Melle, Ingrid, Agartz, Ingrid, Andreassen, Ole A., Schork, Nicholas J., and Dale, Anders M.

Published
2012

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