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1. Midwives' Experiences of Transitioning Into Private Practice With Visiting Access in Australia: A Qualitative Descriptive Study

Author

Jenny Gamble, Megan Barker, and Jennifer Fenwick

Subjects
Medical education, 030219 obstetrics & reproductive medicine, Scope of practice, business.industry, Collaborative network, Obstetrics and Gynecology, Small business, 03 medical and health sciences, 0302 clinical medicine, Global issue, Private practice, Maternity and Midwifery, Public hospital, Health care, 030212 general & internal medicine, Sociology, Thematic analysis, business
Abstract

BACKGROUNDA national review of maternity services in Australia in 2009 resulted in legislative changes which provided midwives with an unprecedented opportunity to offer continuity of care as a private practitioner with visiting access to a public maternity hospital. However, very few midwives have taken up this opportunity.AIMTo explore the experiences of midwives who transitioned into private practice with visiting access to a public hospital.METHODUsing a qualitative descriptive approach, six midwives participated in digitally recorded in-depth interviews. Data was analyzed using thematic analysis.FINDINGSTransitioning to private practice enabled midwives to align their core midwifery values with their practice. Midwives reported taking “a leap of faith” by venturing into private practice. Although seeking visiting access and running a small business was initially daunting, midwives were rewarded by being able to practice autonomously and provide continuity of woman centered care within a caseload model. The legislative restrictions, especially around employing other midwives posed significant challenges.DISCUSSION AND CONCLUSIONSPrivate practice with visiting access provided midwives with a service model that aligned their core midwifery values with their clinical practice. The model facilitated their ability to work as lead care professionals, provide woman centered care, and access a collaborative network of healthcare professions. However, the midwives continued to experience structural barriers that threaten the scalability and sustainability of the model. Structural barriers to midwives working to their full scope of practice and in alignment with a midwifery philosophy are a global issue. Further reforms are needed.

Published
2019
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2. Evaluation of Web-Based Continuing Professional Development Courses: Aggregate Mixed-Methods Model

Author

Peter Selby, Rosa Dragonetti, Megan Barker, Myra Fahim, and Arezoo Ebn Ahmady

Subjects
Medical education, Engineering, Original Paper, Internet, Data collection, Knowledge management, learning, 020205 medical informatics, business.industry, 030206 dentistry, 02 engineering and technology, tobacco use, Knowledge acquisition, Education, Formative assessment, 03 medical and health sciences, 0302 clinical medicine, evaluation studies, Summative assessment, 0202 electrical engineering, electronic engineering, information engineering, Web application, The Internet, Relevance (information retrieval), Thematic analysis, business
Abstract

Background: Many continuing professional development (CPD) Web-based programs are not explicit about underlying theory and fail to demonstrate impact. Objective: The aim of this study was to develop and apply an aggregate mixed-methods evaluation model to describe the paradigm, theoretical framework, and methodological approaches used to evaluate a CPD course in tobacco dependence treatment, the Training Enhancement in Applied Cessation Counseling and Health (TEACH) project. Methods: We evaluated the effectiveness of the 5-week TEACH Web-based Core Course in October 2015. The model of evaluation was derived using a critical realist lens to incorporate a dimension of utilitarian to intuitionist approaches. In addition, we mapped our findings to models described by Fitzpatrick et al, Moore et al, and Kirkpatrick. We used inductive and deductive approaches for thematic analysis of qualitative feedback and dependent samples t tests for quantitative analysis. Results: A total of 59 participants registered for the course, and 48/59 participants (81%) completed all course requirements. Quantitative analysis indicated that TEACH participants reported (1) high ratings (4.55/5, where 5=best/excellent) for instructional content and overall satisfaction of the course (expertise and consumer-oriented approach), (2) a significant increase (P ˂.001) in knowledge and skills (objective-oriented approach), and (3) high motivation (78.90% of participants) to change and sustain practice change (management-oriented approach). Through the intuitionist lens, inductive and deductive qualitative thematic analysis highlighted three central themes focused on (1) knowledge acquisition, (2) recommendations to enhance learning for future participants, and (3) plans for practice change in the formative assessment, and five major themes emerged from the summative assessment: (1) learning objectives, (2) interprofessional collaboration, (3) future topics of relevance, (4) overall modification, and (5) overall satisfaction. Conclusions: In the current aggregate model to evaluate CPD Web-based training, evaluators have been influenced by different paradigms, theoretical lenses, methodological approaches, and data collection methods to address and respond to different needs of stakeholders impacted by the training outcomes. [JMIR Med Educ 2017;3(2):e19]

Published
2017

3. Proceedings of the 8th Annual Conference on the Science of Dissemination and Implementation

Author

Lina Jandorf, Janice Horte, Claire Neely, Christine Hartmann, Jennifer Regan, Lior Turgeman, Laura Wyatt, Avi Aggarwal, Elizabeth Murray, Susan Montgomery, Anne Ray, William Lukesh, Susan Yee, Keng-yen Huang, William L. Miller, Terry Jankowski, Anne E. Sales, Samantha M. Harden, Alexandra B. Morshed, George Valko, Julie Gazmararian, Kristen Schaffner, Marie Paul Nisingizwe, Amy Sadler, Heather Kaplan, Celeste Liebrecht, Jennifer Sharpe Potter, Helen Kales, M. Rashad Massoud, Caity Frail, Christian Rusangwa, Candice Monson, Bernard Le Foll, Gemmae Fix, Justin Presseau, George Sayre, Nicholas A. Rattray, Rebekka Lee, Arne Beck, Vincent Liu, Chris Griffiths, Megan Barker, Thomas Love, Leanne Whiteside-Mansell, Ross Shegog, Susan A. Flocke, Laurie Miller Brotman, Jeffery Pitcock, Moses Mwanza, Kera Mallard, Don McGeary, Rinad S. Beidas, Tara Queen, Thana-Ashley Charles, Toni Pollin, Jennifer Zanowiak, Julie Johnson, Carrie Klabunde, Wendy Lantaff, Martin Guilliford, Sabrina Cheng, Elyse Park, Mary McKay, Patricia Cheung, Marla Gardner, Suellen Hopfer, Julie E Reed, Jamie Park, Sarah M. Nielsen, Andrea Forman, Paul Meissner, Brittany Skiles, Steven B. Zeliadt, Shannon Wiltsey Stirman, Christina D. Economos, Amanda Clark, Rachel Kimerling, Katie Dambrun, Leah Gordon, Wen Wan, Krysttel Stryczek, Shari Bolen, Marc Rosenman, Kimberly K Vesco, Joel Rosenthal, Mona Sarfaty, Lara Gunderson, Hardayal Singh, Ann Donze, Ross A. Hammond, Catherine Michel, Stephanie Taylor, David Au, Rakesh Rao, Chris Shea, Christine Markham, David Smelson, Mary Northridge, K. Joanne Pike, Terra Lucas, Sherri L. Lavela, Mary Wangen, Appathurai Balamurugan, Hope Krebill, Daniel Blonigen, Roman Kislov, Edward J. Miech, Peggy A. Hannon, Myra Fahim, Mary Jo Pugh, Ross C. Brownson, Erika Cottrell, Emmanuela Gakidou, Paul Weiss, Kathryn G. Sapnas, Padra Franks, Shereef Elnahal, Margaret Hargreaves, Candyce Kroenke, Sandra Eldridge, Charles Deutsch, Elizabeth A. Dodson, Mona J. Ritchie, Jennifer Leeman, Barbara Bokhour, Paul Wilson, Christina Seelaus, Gina Kruse, Margaret Handley, Rachelle Chambers, Emily Vall, Norman Giesbrecht, Brian L. Egleston, Ariella R. Korn, Melissa Somma McGivney, Della Thonduparambil, Valerie Caldas, Maggie Wolf, Ashley Stoneburner, David A. Ganz, Patricia Dolan Mullen, Kaelin Rapport, Stephen M. Shortell, Teresa Hudson, John Ferrand, Sarah Ono, Jerome Watts, Allison Rodriguez, Ngoc-Cam Escoffery, Rose McGonigle, Ebony Madden, Donna Shelley, Rachel Sturke, Hillary Peabody, Ned Mossman, Giuseppe Raviola, J. Lucian Davis, Ashley Gray, Antoinette Percy-Laurry, Keith McInnes, Ashley Garcia, Nicole Gesualdo, Benjamin Saunders, Jacqueline J. Fickel, Nilay Shah, Barbara Homoya, Olive Kabajaasi, Amy Kilbourne, Aliya Noormohamed, John Humphreys, Sonya Gabrielian, Jennifer Williamson, Frances K. Barg, Thomas Mackie, Jessica Stoll, Ruben Parra-Cardona, Douglas Einstadter, Neda Laiteerapong, Gary Doolittle, Muin J. Khoury, Nadia Minian, Andrew N Blatt, Sylvia Sax, Edmond Ramly, Arezoo Ebnahmady, Achilles Katamba, Amit Mathur, Celine Hollombe, Christopher Smyser, Brook Watts, Nina Sperber, Sarah Birken, Karina Davidson, Jeffrey Solomon, Rosa Dragonetti, Fern Fitzhenry, Leif Solberg, Megan McCullough, Nina Sayer, Michelle Savage, Ashley Ketterer Gruszkowski, Linda Patrick-Miller, Molly Franke, Nora Mueller, Rachel G. Tabak, Elizabeth Neilson, Tejinder Rakhra-Burris, Laura-Mae Baldwin, Peter Selby, Hal Roberts, F. Sessions Cole, Gerry Melgar, Dianne Ward, Ellie Morris, Jamie Ostroff, Kimberly Hoagwood, Stephanie Mazzucca, Victoria Scott, Katie Halkyard, Jason Egginton, Amy Herschell, Nadia Islam, Danielle McKenna, Erin Lebow-Skelley, Richard J. Wood, Michael F. Murray, Jordan Tompkins, Aleksandra Sasha Milicevic, Lisa R. Hirschhorn, Jo Rycroft-Malone, David W. Lounsbury, Kathleen West, Tanya Olmos, Cassandra Gulden, Shalynn Howard, Stephanie Craig Rushing, Sten Vermund, Margaret M. Farrell, Dominique Fetzer, Linda Fleisher, Lisa Simpson, Michael J. Hall, Lisa M Klesges, Marc S. Williams, Karen Schaepe, Allyson Varley, Wynne E. Norton, Julia Kyle, Rivet Amico, Emily Ahles, Bruce R. Schackman, Erin P. Finley, Kristin Weitzel, Shevin Jacob, Rikki S. Gaber, Pamela Ganschow, Joshua Denny, Victor Montori, JoAnn Kirchner, Lauren Brookman-Frazee, Rhonda BeLue, Zachary Patterson, Jennifer Boggs, Riki Mafune, Sarah J. Shoemaker, Kate Winseck, Joan Smith, Marci Schwartz, Gabriel J. Escobar, Shannon Barrett-Williams, Gary K. C. Chan, Arona Ragins, Beth Ann Petrakis, Liam O’Sulleabhain, David Thornton, Cynthia Vinson, Jacky M. Jennings, Rucha Kavathe, Enrique Torres Hernandez, Elijah Goldberg, Patricia Carreno, Gill Harvey, Nathan Kenya-Mugisha, Brandy Smith, Demietrice Pittman, Enola K. Proctor, Angela Moreland, Kasisomayajula Viswanath, Adam Rose, Jennifer Bacci, Sarah Tubbesing, Kenneth Sherr, Emily Sykes, Shoba Ramanadhan, Nicole A. Stadnick, Amanda Brandt, Abraham Wandersman, Chris Gillespie, R. Chris Sheldrick, Amy Kennedy, Sara Dick, Carolyn M. Clancy, Savio Mwaka, Adithya Cattamanchi, Mahrukh Choudhary, Sruthi Buddai, Mark S Bauer, Generosa Grana, Shamik Trivedi, Gwenda Gorman, Deb Langer, Karissa Fenwick, Darcy A. Freedman, Jason Lind, Cara C. Lewis, Steven Lindley, Deborah O. Erwin, Melissa Peskin, Kristen D. Rosen, Terrence L. Hubert, Michael Ong, Aziz Sheikh, Justeen Hyde, Zachary F. Meisel, Claudina Tami, Greg Zimet, Jennifer Grant, Gerald F. Kominski, Jessica M. Long, Allison Myers, Chris Carpenter, Rachel Ceccarelli, Marla Dearing, Sharon Straus, Stephanie Smith, Michael A. Sanchez, Angela Park, Ellen Jones, Luisa Manfredi, Ravi Shah, Jacquelyn Powers, Cara McCormick, Shusmita Rashid, Victoria Pratt, Miya L. Barnett, Michael Parchman, Elaine Böing, Suzanne Heurtin-Roberts, Anita Patel, Christine Lu, Christi Kay, Jeremy Thomas, Craig Rosen, Gbenga Ogedegbe, Amanda T. Parrish, Diane R Lauver, Lori Orlando, Brian S. Mittman, Hallie Udelson, Rachel Gold, Erica Hamilton, José Salato, Youxu C. Tjader, Benjamin Turk, Giselle Perez, Amber Vaughn, Jeffrey R. Smith, Eric R. Larson, Rohit Ramaswamy, Colleen Payton, Jodie A. Trafton, Elisa M. Torres, Cameo Stanick, Bryan J. Weiner, Beatha Nyirandagijimana, Rachel C. Shelton, Rebecca Lengnick-Hall, Michael W. Kennedy, Madalena Monteban, Megan Roberts, Laurel Leslie, Autumn Harnish, Ann Wu, Janet Carpenter, Alexander Fiks, Carol R. Horowitz, Michael Hecht, Andriy V. Samokhvalov, Amanda Gaston, Olufunmilayo I. Olopade, Elizabeth A. Stuart, Dan Berlowitz, Matthew Weber, Amanda Vogel, Yinfei Kong, Rochelle Hanson, Lee Fleisher, Stephen Gloyd, Jay Carruthers, Melissa Courvoisier, Kim Rainey, Carmel Nichols, Christie M Bartels, Gregory A. Aarons, Kristin Mattie, Jonathan Scaccia, Vilma Martinez-Dominguez, Charlene Gaw, Christina Rybak, Nancy Zoellner, Leighann Kimble, Xinxin Shirley Yao, Kandamurugu Manickam, Caitlin Dorsey, Nathalie Moise, Marguerite Fleming, Meghan Lane-Fall, Michael Leo, Carolyn Audet, Stefanie Ferreri, Laura J. Damschroder, Kate McGraw, Colleen Walsh, Ross Brownson, Lindsey Zimmerman, Teresa M. Damush, Lori Christiansen, Hildegarde Mukasakindi, Mary B. Daly, Itzhak Yanovitzky, Laura Di Taranti, Mary Middendorf, Ashley Scudder, Diane Korngiebel, Kimberly Bess, Sarah Valentine, Erick G. Guerrero, Jennifer N. Hill, Sally K. Holmes, Hector P. Rodriguez, Sarah Greene, Joanna Bulkley, Theodore Levin, Cory Hamata, Michelle Barbaresso, Melanie Barwick, Margie Snyder, Sonja K. Schoenwald, Sara Locatelli, Jeffrey R. Harris, Laurie Zawertailo, Adam H. Buchanan, Erin Staab, Isomi Miake-Lye, Emily Lanier, Eva Woodward, David A. Chambers, Dolly Baliunas, Rachel Gruver, Amanda Elsey, Rahul Bhargava, Amy E. Green, Emmeline Chuang, Larissa Myaskovsky, Gemma Pearce, Megan Smith, Melinda Dye, Emily Rentschler Drobek, Lauren Peccoralo, Louise Dixon, Kassy Alia, Daniel Polsky, NithyaPriya Ramalingam, Byron J. Powell, Taren Swindle, Molly M. Simmons, Derri Shtasel, Brian Hackett, Lloyd Sederer, Michelle Miller-Day, Tasoula Masina, Kathleen M. Mazor, Gilo Thomas, Andrea Nevedal, Kaitlyn Sevarino, Julia E. Moore, Susan Essock, Patricia Kipnis, Gila Neta, Kyle Bigham, Christian Helfrich, Peter Hovmand, Sarah Gimbel, Luana Marques, Rendelle Bolton, Yue Guan, Benjamin Teeter, Angela R. Bradbury, Kristen Hammerback, Susan M. Domchek, Heather Baily, Dana F. Clark, Geoffrey M. Curran, Randall Cebul, Anna S. Lau, Shirley Beresford, Larisa Cavallari, Gonzalo Grandes-Odriozola, Eve-Lynn Nelson, Matthew Cummings, Ashley Spaulding, Bijal Balasubramanian, Brooke Ike, Arwen Bunce, Deborah J. Cohen, Jennifer Torres, Heather Halko, Karen Fullerton, Erin Hennessy, Benjamin Crabtree, Carol VanDeusen Lukas, Shawna Smith, Todd Molfenter, Gareth Parry, Kea Turner, Laura Gibson, Patricia Escobar, Becky Yano, Sobia Khan, Shreshtha Madaan, Teis Kristensen, Stuart Cowburn, Allen L. Gifford, Judith Katzburg, Kate Beadle, Maria E. Fernandez, Hilary Pinnock, Alanna Kulchak Rahm, Robert Lieberthal, Sarah Taber-Thomas, Daniel Eisenberg, Regan Burney, Amy Jones, Andrea Ippolito, Donald R. Miller, Christine Timko, Deborah Delevan, Marlana Kohn, Sara Minsky, Wylie Burke, Ulrica von Thiele Schwarz, Megan E. Branda, Alison Tovar, Corrine Voils, Kristen Matlack, Holly Swan, Vera Yakovchenko, Brian Austin, Benjamin Henwood, Mari-Lynn Drainoni, R. Ryanne Wu, Sandy Kuhlman, Jenita Parekh, Jennifer Myers, Aaron Leppin, Julia Mitchell, Robert J. Monte, Cornelia Jessen, Robert Orazem, Diane Cowper, Mary Hook, Jill Stopfer, and Molly Landau

Subjects
medicine.medical_specialty, education.field_of_study, business.industry, Health Policy, Public health, Population, Public Health, Environmental and Occupational Health, Health services research, Library science, Health Informatics, General Medicine, Population health, Health equity, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Community health, Health care, medicine, 030212 general & internal medicine, business, education, 030217 neurology & neurosurgery, Health policy
Abstract

A1 Introduction to the 8th Annual Conference on the Science of Dissemination and Implementation: Optimizing Personal and Population Health David Chambers1, Lisa Simpson2 1Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Rockville, MD, 20850, USA; 2AcademyHealth, Washington, DC, 20036, USA For the second year in a row, we are pleased to be able to share the proceedings of the Annual Conference on the Science of Dissemination and Implementation in Health, a large meeting reflecting the expanding and evolving research field that seeks to optimize the use of evidence, interventions, and tools from health research within the myriad of settings where people receive health care, make health-related decisions, and increase knowledge of influences on the health of the population. We once again benefitted from a strong partnership, co-led by AcademyHealth and the National Institutes of Health (NIH), with co-sponsorship from the Agency for Healthcare Research and Quality (AHRQ), the Patient Centered Outcomes Research Institute (PCORI), the Robert Wood Johnson Foundation (RWJF), the US Department of Veterans Affairs (VA), and the WT Grant Foundation. In addition, we benefitted from the collaboration of staff from the Centers for Disease Control and Prevention (CDC) and the World Health Organization (WHO). NIH and AcademyHealth again co-led the program planning committee, which focused on the development of the plenary sessions, and convened a scientific advisory panel to suggest speakers and advise on the overall conference development. The planning committee identified four key areas around which to focus the plenary panels and keynote address. Dr. America Bracho, M.D., M.P.H., Executive Director of Latino Health Access in Orange County, California, spoke about the opportunities for implementation science to inform efforts to improve community health and engage underserved populations. The three plenary panels each focused on a significant future direction for dissemination and implementation (D & I) research: the interface between D&I science and population health, emerging opportunities for global implementation science, and the challenges around implementation of precision medicine. The plenary sessions were complemented by facilitated lunchtime discussions on the same three topics, which offered participants an opportunity to identify key research questions for each and brainstorm next steps. Synopses of the lunchtime discussions are included in this supplement. Given the overwhelming success of the 2014 conference and the large number of abstracts received in 2014 (660), the program planning committee identified eight program tracks for abstract submitters to respond to, and through which the concurrent sessions of the conference would be organized. These tracks—Behavioral Health, Big Data and Technology for Dissemination and Implementation Research, Clinical Care Settings, Global Dissemination and Implementation, Promoting Health Equity and Eliminating Disparities, Health Policy Dissemination and Implementation, Prevention and Public Health, and Models, Measures and Methods— were designed to enable conference participants to follow a consistent theme across the multiple sessions of the conference and form the structure of this supplement. The call for abstracts, including individual paper presentations, individual posters and panel presentations, resulted in 515 submissions, spread across the eight thematic tracks. Over one hundred reviewers devoted their time to ensuring a comprehensive and expert review, and reviews were conducted within each track and coordinated by the track leads. For the final program, 64 oral presentations, 12 panels, and 263 posters were presented over the two-day meeting. Slides for the oral presentations and panels (with the agreement of the authors) were posted on the conference website (http://diconference.academyhealth.org/archives/2015archives) and all abstracts were included on the conference webapp (https://academyhealth.confex.com/academyhealth/2015di/meetingapp.cgi). This supplement has compiled the abstracts for presented papers, panel sessions, and lunchtime discussions from the 8th Annual Meeting on the Science of Dissemination and Implementation in Health: Optimizing Personal and Population Health. We are pleased to have the abstracts from the conference together in one volume once again, and look forward to the 9th Annual meeting, scheduled for December in Washington, D.C.

Published
2016
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4. Callosal agenesis and congenital mirror movements : outcomes associated with DCC mutations

Author

Emmanuelle Lacaze, Gail Robinson, Jacquelyn L. Knight, Christel Depienne, Delphine Héron, Richard J. Leventer, Paul J. Lockhart, Megan Spencer-Smith, Linda J. Richards, Monash University [Melbourne], Murdoch Children's Research Institute (MCRI), University of Queensland [Brisbane], Institut des Nanosciences de Paris (INSP), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Duisburg-Essen, University of Melbourne, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Royal Alexandra Children's Hospital, Irc5 Consortium: Amelia Ceslis, Emily Gibson, Kim Giraudat, Alissandra McIlroy, Lynn K Paul, Vanessa Siffredi, Melanie Bahlo, Megan Barker, Eleonore Blondiaux, Timothy J Edwards, Catherine Garel, Solveig Heide, Boris Keren, Simone A Mandelstam, Ashley Pl Marsh, George McGillivray, Cyril Mignot, Marie-Laure Moutard, Caroline Nava, Kate Pope, Agnès Rastetter, Sarah Em Stephenson, Stéphanie Valence, Thierry Billette de Villemeur, Amanda Wood, Vicki Anderson, Elliott H Sherr, and univOAK, Archive ouverte

Subjects
Adult, Male, 030506 rehabilitation, Adolescent, Deleted in Colorectal Cancer, Medizin, [SDV.GEN] Life Sciences [q-bio]/Genetics, Neuropsychological Tests, Mirror movements, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuroimaging, medicine, Humans, Young adult, Child, Agenesis of the corpus callosum, Callosal agenesis, [SDV.GEN]Life Sciences [q-bio]/Genetics, Movement Disorders, medicine.diagnostic_test, business.industry, Neuropsychology, Magnetic resonance imaging, Middle Aged, DCC Receptor, Prognosis, medicine.disease, Magnetic Resonance Imaging, nervous system, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Agenesis of Corpus Callosum, 0305 other medical science, business, Neuroscience, 030217 neurology & neurosurgery
Abstract

Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror movements only (n=2), ACC only (n=3), or neither ACC nor mirror movements (n=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and/or mirror movements are associated with low functioning in select neuropsychological domains and a DCC pathogenic variant alone is not sufficient to explain the disability. WHAT THIS PAPER ADDS: Neuropsychological impairment severity is related to presence of mirror movements and/or agenesis of the corpus callosum. A DCC pathogenic variant in isolation is associated with the best prognosis.

Published
2020
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