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1. Ethnic and racial differences in children and young people with respiratory and neurological post-acute sequelae of SARS-CoV-2: an electronic health record-based cohort study from the RECOVER InitiativeResearch in context

Author

Suchitra Rao, Rodrigo Azuero-Dajud, Vitaly Lorman, Jeremy Landeo-Gutierrez, Kyung E. Rhee, Julie Ryu, C. Kim, Megan Carmilani, Rachel S. Gross, Sindhu Mohandas, Srinivasan Suresh, L. Charles Bailey, Victor Castro, Yalini Senathirajah, Shari Esquenazi-Karonika, Shawn Murphy, Steve Caddle, Lawrence C. Kleinman, Leah Castro-Baucom, Carlos R. Oliveira, Jonathan D. Klein, Alicia Chung, Lindsay G. Cowell, Charisse Madlock-Brown, Carol Reynolds Geary, Marion R. Sills, Lorna E. Thorpe, Jacqueline Szmuszkovicz, Kelan G. Tantisira, Ivan Diaz, Rachel Kenny, Parsa Mirhaji, Ravi Jhaveri, Marc Rosenman, Christopher Forrest, Beth Tarini, Hiroki Morizono, Nathan Pajor, W. Schuyler Jones, Kieler Curtis, Rishi Kamaleswaran, Nita Deshpande, Saul Blecker, Claudia Pulgarin, Marion Sills, Erin Hinkman, Dan Fort, Timothy Guthrie, Cynthia Chuang, Wenke Hwang, Dimitri Christakis, Daksha Ranade, Shannon Herring, Aaron Mishkin, Soledad Fernandez, Neena Thomas, Yuriy Bisyuk, Jyotsna Fuloria, Elizabeth Chrischilles, Boyd Knosp, Asa Oxner, Athanasios Tsalatsanis, Lindsay Cowell, Phillip Reeder, Stephen M. Downs, Brian Ostasiewski, Rainu Kaushal, Thomas Campion, Jessica Snowden, Katherine Irby, Paul Darden, Lexie Dixon, Danielle Evans, Connor Garbe, Laura Hobart-Porter, Lee Howard, Kathy Hummel, Hannah Krehbiel, Haley Spradlin, Phaedra Yount, Amy Elliott, Grace Adam, Jyoti Angal, Maria Barber, Katelynne Clark, Clayton Dos Reis, Mandy Freesemann, Christa Friedrich, Christine Hockett, Rachel Johannsen, Emily Johnson-Vonk, Cassidy Kaiser, Alexa Kruse, Jennifer Lang, Peter Lim, Meggie McCoy, Lorie Miller, Shelby Petereit (Cerkovnik), Jaime RiChard (Werpy), Jessica Seiler, Bret Sundleaf, Joshua Svendsen, Billy Trosper, Olivia Vermeulen, Scott Young, Aul Palumbo, Sean Dabney, Marie-Christine Fahrner, Torrey Gallagher, Karilyn Martini, Mary McNally, Sarah Vivensi Stiverson, Jessica Kosut, Venkataraman Balaraman, JoAnn Cheung, Travis K.F. Hong, Shanelle Kalua, Evan Minami, Andrea Siu, Micah Tong, Ronald J. Teufel, II, Andy Atz, Marina Dantas, Tyler Kasmarcak, Kreighton Milks, Judith Ross, Chijoke Ikomi, Marisa Meyer, Connie Nguyen, Gwen Pellicciotti, Thao-Ly Phan, Karen Ravin, Victoria Reynolds, Abigail Strang, Deepika Thacker, Dan Eckrich, Annabelle Goetter, Cheyenne Katz, Karen Kowal, Carol McDevitt, Emily Zimmerman, Genesis Agosto Roman, Akram Alshawabkeh, Ishwara Ayala Ortiz, Virginia Casey, Jose Cordero, Jocelyn De Jesus, Crystal Galan, Gredia Huerta-Montanez, Nilda Otero, Mayra Rivera Robles, Priscilla Roman, Genesis Roman, Zaira Rosario-Pabon, Xiodenis Santiago, Carmen Velez-Vega, Carlos Vergara, Daniel S. Hsia, Baylea Albarado, Tracey Allen, Allison Attuso, Taylor Ayers, Emily Bebler, Grace Bella, Alexa Bennett, John Brown, Alison Carville, Sydnie Darby, Kara Devall, Amber Dragg, Angela Elderedge, Elisabeth Fontenot, Greta Fry, Bethany Gildersleeve, Sara Goff, Lauren Harrington, Lisa Jones, Victoria Kaiser, Yejee Lee, Stephen Lee, Erin LeJeune, Robert Leonhard, Jennifer Levatino, Donald Lewis, Angrielle Lloyd, Ron Monce, Susannah Munro, Meghan Phillips, Blair Pucheu, Emily Rachal, Jennifer Rood, Stacey Roussel, Renee Rumsey, Connor Sanford, Monica Santos, Aryelle Stafford, Amy Thomassie, Celeste Waguespack, Katherine Walgamotte, Meredith Welch, Aubrey Windham, Michelle Stevenson, Tiffany Bell, Jackie Boyd, Soham Dasgupta, Sarah Deans, Katie Harris, Molly Hemmerle, Sarah King, Cameo McGuire, Brie Merten, Sarah Morris, Madison Ray, Brooklyn Reinhardt, Shellese Shemwell, Theresa Simeon, Katherine Walker, Sara Watson, Kathryn Weakley, Russell McCulloh, Johnathon Figliomeni, Laura Fischer, Denise Hoover, Megan Morse, Aleisha Nabower, Evan Roberts, Alice Sato, Joann Von Bon, Hengameh Raissy, David Archuleta, Rebecca Brito, Richard Campbell, Jude Chavez, Walter Dehority, Noella Garcia-Soberanez, Eve Gronert, Matthew Kadish, Jerry Larrabee, Debbie Lovato, Karen Luo, Noah Martinez, Analyse Merlino, Emily Reese, Sarah Ward, Kevin Wilson, Amanda Bogie, Ryan Brown, Ryan Butchee, Gina Fergeson, Ryan McKee, Brandon Mohler, Tiffany Moore, Valorie Owens, Sarah Stubbs, Timothy Van Wagoner, Kelly Cowan, Meghan Bethel, Laurie Chassereau, Thomas Lahiri, Lesley Cottrell, Lauren Lake, Kathy Moffett, Emily Polak, Sarah Stutler, Charlotte Workman, David Warburton, John C. Wood, Emma Carpenter, Isabelle Dhindsa, Samantha Mejia, Nelly Moghadam, Candice Mulder, Sharon O'Neil, Alisha Osornio, Adrian Rios, Sydney Rosen, Andrea Smith, Deeba Tabibi, Sharon Tang, Ariana Teame, Melissa Stockwell, Joshua Milner, Erika B. Rosenzweig, Brett Anderson, Tawanda Aquino, Elizabeth Berg, Marina Catallozzi, Wendy Chung, Tom Connors, Aliva De, Anny Diaz Perez, Michael DiLorenzo, Dani Dumitriu, Kanwal Farooqi, Michael Fremed, Sylvie Goldman, Kayla Kaplan, Usha Krishnan, Aimee Layton, Angela Lignelli-Dipple, Son McClaren, Jonathan Overdevest, Michelle Rodriguez, Jay Selman, Wendy Silver, Raul Silverio, Ana Valdez de Romero, Celibell Vargas, Alan Werzberger, Daniella Caputo, Camille Leggieri, Pamela Pretsch, Lawrence Kleinman, Sunanda Gaur, Lisa Cerracchio, Amber Folnagy, Maria Gennaro, Sherri Gzemski, Yue Hao, Simon Li, Sandee Moroso, Manette Ness-Cochinwala, Akhil Patel, Benjamin Richlin, Harsh Sharma, Damaris Soto, Christian Suarez, Bibiana Vargas Forero, Lynn Olson, Kristin Davis, Alexander Fiks, Miranda Griffith, Donna Harris, Everly Macario, Jennifer Steffes, Alessandra Torres, Rangaraj Selvarangan, Dithi Banerjee, Chris Day, Kelsye Howell, Megan Mains, Juan C. Salazar, William T. Zempsky, Emily Bean, Carlie DeFelice, Hassan El Chebib, Katherine W. Herbst, Stephanie Lesmes, Ian C. Michelow, Melissa Santos, Noah Schulman, Wilson D. Pace, Alicia Brooks-Greien, Karinne Colin, Christina M. Hester, Ariadna Juarez-Colunga, Brian Manning, Joel Shields, Jack Westfall, Daphne York, Judy Aschner, Katharine Clouser, Justine Griswold, Donna Lee, Amanda Nowakowski, Maryellen Riordan, Hulya Bukulmez, David Kaelber, Rozina Aamir, Mohammed Abuzahrieh, Nandini Bangalore, Alexis Brown, Wendy Dalton, Suzanne Fortuna, Judi Minium, Bonnie Rosolowski, Sheila M. Nolan, Amal Ahmed, Suzanne Braniecki, Montserrat Contreras, Allen Dozor, Supriya Jain, Suzanne Kaseta, Sankaran Krishnan, Zachary Messer, Armando Ramirez, Aalok Singh, Randy Williams, Kyung Rhee, Kelan Tantisira, Almary Akerlundh, Natacha Akshoomoff, Maria Arroyo, Wendy Barrientos, Rakesh Bhattacharjee, Bryant Y. Chao, Maricela Diaz, Sergio Garcia, Sonia Garcia, Guadalupe Gomez, Trinidad Herrera, Margarita Holguin, Manaswitha Khare, Elizabeth Kiernan, Jeremy Landeo Gutierrez, Ileana Matta, Sofia Reyes, Cinthia Sanchez, Andrea Schreck, Megan R. Warner, Uzma Hasan, Elizabeth Ricciardi, Vanessa Trespalacios, Vince Faustino, Matthew Kluko, Bryant Chao, Maria Glenn-Arroyo, Elizabeth A. Kiernan, Anika Madan, Lisa Ramos Vallejo, Cinthia E. Sanchez, Maira Suarez, Patricia Kinser, Amy Salisbury, Jocelyn Espinoza, Sara Moyer, Amy Rider, Sally Russell, Michael Schecter, Lindsey Stevenson, Cheryl R. Stein, Stephanie V. Caldas, Thomas Dylan Castro Ovalle, Anthony Chung, Jonathan S. Farkas, Maria Isidoro-Chino, Deniz Kesebir, Eugenia Kim, Ashley Quarless, Alan Schlechter, Ranjini Srinivasan, Viren D'Sa, Fatoumata Barry, Phoebe Burton, Rosa Cano Lorente, Caroline Cummins, Stephanie Wehbe, Sandra Brown, Anders Dale, Terry Jernigan, Susan Tapert, Jose Aguilar, David Benjamin, Natalie C. Buchbinder, Norma Castro, Brandy Emerson, Hugh Garavan, Jennifer Graves, Amanda Guerrero, Janosch Linkersdoerfer, Robert Schooley, Wes Thompson, Thanh Trinh, Ron Yang, Megan Herting, Elizabeth Sowell, Cynthia Cisneros, Lauren Goedde, Cedric Manlhiot, Raul Gonzalez, Angela Laird, Jorge Limia, Robin Aupperle, Martin Paulus, Melanie Curry, Nour S. El-Sabbagh, Kevin Gray, Lindsay Squeglia, Samuel Agbeh, Cori Herring, Brittany Mckenzie, Bonnie Nagel, Abby Espinoza, Anthony Hill, Angie Morales, Fiona Baker, Eva Muller-Oehring, Ian Colrain, Ingrid Durley, Mirella Dapretto, Lucina Uddin, Susan Bookheimer, Christina Caldera, Jennifer Dzul, Cinthia Zarate, Marie Banich, Paola Badilla, Jennifer Keith, G. Kumar, David Messinger, Katie Prazak, Sara Jo Nixon, Melanie Cardoso, Meagan Sullivan, Stephen Villard, Linda Chang, Thomas Ernst, Christine Cloak, Huajun Liang, Meghann C. Ryan, Mary Heitzerg, Jennifer Conley, Leonard Puttler, Monica Luciana, William Iacono, Aaron Schroeder, Duncan Clark, Doyeon (Dan) Kim, Megan Retucci, Edward Freedman, John Foxe, Sile Ni Mhurchu, Samantha Spallina, Erin McGlade, Deborah Yurgelun-Todd, Liz Bell, Kirsten Cline, Lauren Heinrich, Perry Renshaw, Alexandra Potter, Cass Barrett, Sofia Lozon, Samantha Spear, Christine Larson, Krista Lisdahl, Tory Clearwater, Christine Kaiver, Caitlin Nelson, Zach Paltzer, Bridgette Peteet, James Bjork, Mike Neale, Olive Calonge, Noah Slattery, Lisa Straub, Deanna Barch, Andrew Heath, Pamela Madden, Taylor Powell, Denise Schmitz, Dylan Gee, Boris Epie, Rebekah Hobbs, Alex Williams, Zhouran (Rick) Xiang, Julie Miller, Jane Newburger, Felicia Trachtenberg, Ayesha Amarnath, James Ambrosoli, Denise Artis, Sachin Bandari, Emily Birmingham, Lozan Eyob, Kerri Hayes, Chenwei Hu, Melissa Joyce, Valentina Kazlova, Iris Liu, Amanda Marshall, Devine Mbizdenyuy, P.J. Mu, Robin Rowe, Brooke Sayles, Mo Zhang, Pei-Ni Jone, Michael Carr, Lauren Goodell, Wantanabe Kar, Kathleen Van't Hof, Kristin Sexson, Elias Moussi, David Olukayode, Sandra Pena, Ricardo Pignatelli, Faridis Serrano, Sara Sexson Tejtel, Lara Shekerdemian, Audrey Dionne, Annette Baker, Sarah DeFerrantini, Thomas Giorgio, Numaira Khan, Simran Mahanta, MaryBeth Son, Matt Oster, Melissa Burnett, Kolby Sanders-Lewis, Sonia Chavez, Georgia Reis, Jackie Szmuszkovicz, Fariborz Behzadian, Carla Canas, Andrew Cheng, Mike Gawad, Paige Johnson, Alicia Kazarians, Anastasia Sarkissian, Brandi Scott, Consuelo Secules, Jennifer Su, Crystal Vargas, Jodie Votava-Smith, Sharon Wagner-Lees, Shuo Wang, Pierre Wong, Yamuna Sanil, Sanjeev Aggarwal, Aiman Almasnaah, Nirupama Kannikeswaran, Kathleen Meert, Gautam Singh, Priya Spencer, Nancy Sullivan, Sureja Sundaralingam, Vishnu Undyala, Emily Ward, Amanda Weber, Charmaine Williams Farr, Tamara Bradford, Marla Johnston, Matthew Elias, Alex Fiks, Chris Forrest, Dana Albizem, Susan Coffin, Therese Giglia, Katherine Lupton, Grace Marks, Tonia Morrison, Shawn O'Connor, Daniel Forsha, Jennifer Nelson, Rachel Sachdeva, Dara Watkins, Ashraf S. Harahsheh, Jordyn Britton, Alix Fetch, Anita Krishnan, Onais Tariq, Sean Lang, Marisa Almaguer, Jim Cnota, Lauryn Dugan, Elise Pickering, Kathleen Rathge, Elizabeth Mitchell, Christine Capone, Nilanjana Misra, Olga Shamailova, Mark Russell, Tammy Doman, Lori Harris, Keren Hasbani, Sagar Jani, Brian McCrindle, Jessica Bainton, Maryanne Chrisant, Doris Alaby, Norma Barton, Danielle Katz, Paulette Smith, Stephanie Handler, Joe Block, Regina Cole, Jennifer Maldonado, Kim McHugh, Andrew Atz, Megan Bickford, Jason Buckley, John Costello, Delany Dennis, Elizabeth Emrath-Zwick, Mary Freeman, Lanier Jackson, Madison Johnson, Elizabeth Mack, Scott Pletzer, Natasha Ruth, Carolyn Taylor, Sinai Zyblewski, Katrina Golub, Chanel Rojas, Korsin Rosalind, Chantal Sanchez, Shubhika Srivastava, Carol Prospero, Ed Williams, Varsha Zadokar, Arash Sabati, Kylie Domian, Ashley Herzberg, Sanjana Khanna, Todd Nowlen, Susan Park, Jade Porche, Samantha Stack, Dongngan Truong, Andrea Dunn, Lilly Fagatele, Emma Joyce, Linda Lambert, Kirsten Dummer, Sherrie Bandy, Jane Burns, Katheryn Crane, Sanjeet Hedge, Joan Pancheri, Adriana Tremoulet, Ronald Mark Payne, Mary Stumpf, Michael Portman, Hidemi Kajimoto, Camden Hebson, Krissie Hock, Onyekachukwu Osakwe, Jemylle Morato, Divya Shakti, Matt Kadish, Kavita Sharma, William Anguiano, Catherine Ikemba, Alejandra Lozano, Maria Martinez, Wendy Rojas, Lerraughn Morgan, Isaura Macias, Carl Owada, Mayra Rangel, and Michelle Sykes

Subjects
PEDSnet, PCORnet, Long COVID, Chronic COVID-19 syndrome, Late sequelae of COVID-19, Long-haul COVID, Medicine (General), R5-920
Abstract

Summary: Background: Children from racial and ethnic minority groups are at greater risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but it is unclear whether they have increased risk for post-acute sequelae of SARS-CoV-2 (PASC). Our objectives were to assess whether the risk of respiratory and neurologic PASC differs by race/ethnicity and social drivers of health. Methods: We conducted a retrospective cohort study of individuals

Published
2025
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2. Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening [version 2; peer review: 2 approved]

Author

Steve Sturdy, Fiona Miller, Stuart Hogarth, Natalie Armstrong, Pranesh Chakraborty, Celine Cressman, Mark Dobrow, Kathy Flitcroft, David Grossman, Russell Harris, Barbara Hoebee, Kelly Holloway, Linda Kinsinger, Marlene Krag, Olga Löblová, Ilana Löwy, Anne Mackie, John Marshall, Jane O'Hallahan, Linda Rabeneck, Angela Raffle, Lynette Reid, Graham Shortland, Robert Steele, Beth Tarini, Sian Taylor-Phillips, Bernie Towler, Nynke van der Veen, and Marco Zappa

Subjects
Medicine, Science
Abstract

Background: In their landmark report on the “Principles and Practice of Screening for Disease” (1968), Wilson and Jungner noted that the practice of screening is just as important for securing beneficial outcomes and avoiding harms as the formulation of principles. Many jurisdictions have since established various kinds of “screening governance organizations” to provide oversight of screening practice. Yet to date there has been relatively little reflection on the nature and organization of screening governance itself, or on how different governance arrangements affect the way screening is implemented and perceived and the balance of benefits and harms it delivers. Methods: An international expert policy workshop convened by Sturdy, Miller and Hogarth. Results: While effective governance is essential to promote beneficial screening practices and avoid attendant harms, screening governance organizations face enduring challenges. These challenges are social and ethical as much as technical. Evidence-based adjudication of the benefits and harms of population screening must take account of factors that inform the production and interpretation of evidence, including the divergent professional, financial and personal commitments of stakeholders. Similarly, when planning and overseeing organized screening programs, screening governance organizations must persuade or compel multiple stakeholders to work together to a common end. Screening governance organizations in different jurisdictions vary widely in how they are constituted, how they relate to other interested organizations and actors, and what powers and authority they wield. Yet we know little about how these differences affect the way screening is implemented, and with what consequences. Conclusions: Systematic research into how screening governance is organized in different jurisdictions would facilitate policy learning to address enduring challenges. Even without such research, informal exchange and sharing of experiences between screening governance organizations can deliver invaluable insights into the social as well as the technical aspects of governance.

Published
2020
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3. The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey

Author

Norma-Jean Simon, Anne Atkins, Brianne Miller, Natasha Bonhomme, and Beth Tarini

Subjects
newborn screening, survey development, cognitive interviews, Pediatrics, RJ1-570
Abstract

Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, an uncommon practice, and few recalled knowing results would be provided to them or their pediatrician in the first few weeks of life. Thorough explanations regarding NBS procedures and expectations were embedded within the survey to enhance and improve interpretation of survey questions. Future NBS experience surveys should utilize cognitive pretesting to capture divergent experiences and improve response validity.

Published
2021
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6. Measuring <scp>high‐risk</scp> parents' opinions about <scp>direct‐to‐consumer</scp> genetic testing for <scp>adult‐onset</scp> inherited cancer syndromes in their adolescent and young adult children

Author

Emily Hasser, Beth N. Peshkin, Jada G. Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Sarah Vittone, Marcelo Sleiman, Claudine Isaacs, Sarah Knerr, Benjamin S. Wilfond, and Kenneth P. Tercyak

Subjects
Genetics (clinical)
Published
2023
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7. Acute care utilization disparities among publicly insured preterm infants

Author

DeWayne M. Pursley, Jonathan M. Davis, Beth Tarini, Tina Cheng, Monika Goyal, Sherin U. Devaskar, Lois K. Lee, Matt Mariani, Shetal Shah, Lisa A. Robinson, Shale L. Wong, James Baumberger, Mona Patel, Joyce R. Javier, Jean L. Raphael, and Mary B. Leonard

Subjects
medicine.medical_specialty, business.industry, Acute care, Pediatrics, Perinatology and Child Health, Emergency medicine, Medicine, business
Published
2021
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10. The american pediatric society and society for pediatric research joint statement against racism and social injustice

Author

Larry W Markham, Lina F. Chalak, Susan S. Baker, Joel N. Hirschhorn, Leslie R Walker-Harding, Beth Tarini, Candice D. Fike, Lauren C. Frazer, Monika Goyal, Michael R. DeBaun, Clifford W. Bogue, Keisha Gibson, Nathalie L. Maitre, Michelle A. Gill, Linda McAllister-Lucas, Sarah C. Armstrong, Jordan S. Orange, David A. Hunstad, Hannah C. Glass, Stephanie D. Davis, Catherine M. Gordon, Stephen R. Daniels, Waldemar A. Carlo, Robin H. Steinhorn, Tamara Simon, Prachi E. Shah, Steven H. Abman, Mary B. Leonard, and Lori R. Holtz

Subjects
medicine.medical_specialty, Statement (logic), media_common.quotation_subject, Pediatric research, Published Erratum, MEDLINE, Pediatrics, Racism, United States, Special Article, Social injustice, Social Justice, Family medicine, Pediatrics, Perinatology and Child Health, Pediatric surgery, medicine, Joint (building), Psychology, Societies, Medical, media_common
Abstract

Although the coronavirus disease 2019 pandemic has served as a flashlight, illuminating and unmasking deep socio-economic and health care divides in our country, the terrible events surrounding the horrific murder of Mr. George Floyd in Minneapolis has spawned even greater outrage. As we all know, Mr. Floyd’s death is not an isolated incident, as there have been a tragic string of such deaths in recent years that further reflect deep issues regarding racism and systemic underlying causes of injustice. Unfortunately, the country’s inability to fully address these systemic foundations of injustice persists.

Published
2020
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11. Correction: The american pediatric society and society for pediatric research joint statement against racism and social injustice

Author

Steven H. Abman, Sarah Armstrong, Susan Baker, Clifford W. Bogue, Waldemar Carlo, Lina Chalak, Stephen R. Daniels, Stephanie Davis, Michael R. Debaun, Candice Fike, Lauren Frazer, Keisha Gibson, Michelle Gill, Hannah Glass, Catherine M. Gordon, Monika Goyal, Joel Hirschhorn, Lori Holtz, David A. Hunstad, Mary B. Leonard, Nathalie Maitre, Larry Markham, Linda McAllister-Lucas, Jordan Orange, Prachi Shah, Tamara Simon, Robin H. Steinhorn, Beth Tarini, and Leslie R. Walker-Harding

Subjects
Pediatrics, Perinatology and Child Health
Published
2021
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12. Health Supervision for Children With Marfan Syndrome

Author

Beth Tarini, James Perrin, and Howard Saal

Subjects
Marfan syndrome, medicine.medical_specialty, business.industry, Disease Management, medicine.disease, Marfan Syndrome, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Humans, Heritable connective tissue disorder, Child, business, Intensive care medicine, Organ system
Abstract

Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.

Published
2013
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13. Health Supervision for Children With Down Syndrome

Author

Beth Tarini, James Perrin, and Howard Saal

Subjects
Down syndrome, Pediatrics, medicine.medical_specialty, Genetic counseling, MEDLINE, Genetic Counseling, Prenatal diagnosis, Chromosome analysis, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Child, business.industry, Academies and Institutes, Age Factors, Aortic Valve Insufficiency, medicine.disease, United States, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Female, Down Syndrome, business
Abstract

These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.

Published
2011
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14. Health Supervision for Children With Prader-Willi Syndrome

Author

Beth Tarini, James Perrin, and Howard Saal

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Prader-Labhart-Willi Syndrome, business.industry, MEDLINE, nutritional and metabolic diseases, medicine.disease, Uniparental disomy, nervous system diseases, Clinical report, Pediatrics, Perinatology and Child Health, medicine, Young adult, business, Genetic testing
Abstract

This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders.

Published
2011
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15. Health supervision for children with fragile X syndrome

Author

Beth Tarini, James Perrin, and Howard Saal

Subjects
Male, medicine.medical_specialty, Ataxia, Genetic counseling, Developmental Disabilities, Genetic Counseling, Pediatrics, Risk Assessment, Severity of Illness Index, Fragile X Mental Retardation Protein, Sex Factors, Intellectual Disability, medicine, Humans, Behavior management, Genetic Testing, Family history, Psychiatry, Child, Societies, Medical, Monitoring, Physiologic, business.industry, Public health, Infant, Newborn, Infant, medicine.disease, Prognosis, Long-Term Care, United States, Premature ovarian failure, Pedigree, Fragile X syndrome, Developmental disorder, Early Diagnosis, Child, Preschool, Fragile X Syndrome, Pediatrics, Perinatology and Child Health, Practice Guidelines as Topic, Female, medicine.symptom, business
Abstract

Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected children but also potentially has significant health consequences for multiple generations in each family.

Published
2011

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