全球唐氏综合征成人医疗指南
The new GLOBAL Medical Care Guidelines for Adults with Down Syndrome (GLOBAL Adult Guideline) provide first in-kind, evidence-based medical recommendations to support clinicians in their care of adults with Down syndrome and was supported by generous donations from the Down syndrome community. To ensure this life-changing resource is kept up-to-date, please consider making a donation today!
As Published in JAMA

The first in-kind GLOBAL Adult Guideline was peer reviewed, edited, and published in the Special Communication section of the print and online October 2020 issue of JAMA, the Journal of the American Medical Association. Exclusive access to the full article here!
“We are so pleased that the quality of our guideline rose to the occasion of being published in JAMA, and we are deeply grateful to our families and self-advocates for pushing us to work on this difficult project,” says Michelle Sie Whitten, President & CEO of the Global Down Syndrome Foundation.
Full GLOBAL Guideline




The GLOBAL Adult Guideline provides an important tool in a primary care setting, augmenting both evaluation and care previously based solely on a person’s age, gender, clinical symptoms, or the presence of known risk factors and other comorbidities.
Copying, posting, or altering this document is prohibited. However, providing a link to the full guidelines on GLOBAL’s website is permissible. Free individual downloads and printing is also permissible.
Family-Friendly GLOBAL Adult Guideline




The Family-Friendly GLOBAL Adult Guideline provides the same important information covered in the Full GLOBAL Guideline in a family-friendly format with helpful pull-out quotes, definitions of medical terms, large photos and font, and is color coded by medical topic.
Copying, posting, or altering this document is prohibited. However, providing a link to the full guidelines on GLOBAL’s website is permissible. Free individual downloads and printing is also permissible.
Additional GLOBAL Adult Guideline Resources
The GLOBAL Adult Guideline is a technical resource for clinicians. The toolkits (for example, the checklist and diabetes toolkit) are family-friendly. GLOBAL will be creating additional toolkits, so please check back to get the most recent updates.
Copying, posting, or altering these documents is prohibited. However, providing a link to the toolkits on GLOBAL’s website is permissible. Free individual downloads and printing is also permissible.




Second Edition GLOBAL Adult Guideline Workgroup
Authors

彼得-布洛瓦在布朗大学完成了本科培训。他在匹兹堡大学完成住院医师和住院总医师培训,并获得医学学位。他是匹兹堡大学普通内科教授,为医科学生、住院医师和研究员授课。Bulova 博士目前正在参与唐氏综合征成人阿尔茨海默病的研究,是美国国立卫生研究院国家唐氏综合征登记数据访问审查委员会的成员,也是《智障研究杂志》和《美国智力和发育障碍杂志》等多家杂志的特约审稿人。Bulova 博士还是唐氏综合症医学兴趣小组(Down Syndrome Medical Interest Group)执行委员会成员,并在全国范围内就唐氏综合症成人患者的护理问题发表演讲。

自 1990 年以来,卡彭博士一直在肯尼迪克里格研究所工作,目前担任唐氏综合症诊所和研究中心主任。他对与唐氏综合症患者相关的广泛主题感兴趣,包括儿童和成人的医疗保健、发育-神经行为、心理健康和睡眠药物试验。卡彭博士与妻子玛丽和儿子丹尼尔居住在马里兰州陶森市。

Brian Chicoine, M.D. is the co-founder and Medical Director of the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, Illinois. The Center has served over 6000 adolescents and adults with Down syndrome since its inception in 1992. Dr. Chicoine graduated from Loyola University of Chicago Stritch School of Medicine. He completed his Family Medicine residency at Lutheran General Hospital where he is now a faculty member. He has published many articles regarding health of people with Down syndrome. He has co-authored two books “Mental Wellness of Adults with Down Syndrome,” and “The Guide to Good Health for Teens and Adults with Down Syndrome” published by Woodbine House Publishing.

Terry Harville earned a PhD in Biochemistry and Molecular Biology, before earning his MD at the University of Florida. He completed a residency in Pediatrics and Fellowship in Pediatric Immunology, Rheumatology, and Transplantation Biology; also at the University of Florida. Dr. Harville joined the faculty of Duke University, where he pioneered hematopoietic transplantation in patients with rare forms of Combined Immunodeficiencies. Subsequently, he joined the faculty of Arkansas Children’s Hospital and the University of Arkansas for Medical Sciences, as Director of Pediatric Rheumatology and Immunodeficiencies. He was asked to take over the Directorship of the Transplantation Laboratories in order to provide better transplantation services in the state of Arkansas. Dr. Harville has more than 160 published abstracts, book chapters, and peer-reviewed manuscripts. Autism Spectrum of Disorders and other diseases of Neuro-atypicality, including Down syndrome, have been amongst his research and clinical care emphases. He also is considered an expert in the diagnosis of immunodeficiency disorders and autoimmune disorders, including celiac disease.

巴里-马丁(Barry Martin)是科罗拉多大学医学院普通内科助理教授,为病人提供初级保健和咨询。他拥有全科医学执照,有 20 多年为成年残疾人,尤其是发育障碍和唐氏综合症患者提供初级保健服务的经验。他曾担任前丹佛成人唐氏综合症诊所的医务主任。目前,他是丹佛健康和 GLOBAL 成人唐氏综合症试点诊所的医疗总监。马丁医生是全国唐氏综合症大会(National Down Syndrome Congress)和唐氏综合症医学兴趣小组(Down Syndrome Medical Interest Group)的成员。

麦奎尔博士是唐氏综合症行为健康专家,在心理健康和发育障碍领域拥有 30 多年的经验。他曾担任伊利诺斯州芝加哥成人唐氏综合症中心的社会心理服务主任。他帮助建立了该中心,每年为 4000 多名患者提供服务。麦奎尔博士在世界各地的活动中发表主题演讲,他还是两本著名书籍的合著者:唐氏综合症成人的心理健康》和《唐氏综合症青少年和成人健康指南》(2011 年)均由伍德宾出版社出版。他获得过许多奖项,包括 2003 年的全国唐氏综合症大会 Theodore D. Tjossem 研究奖和 2010 年的世界唐氏综合症日科学奖。McGuire 继续在芝加哥地区的私人诊所为夫妇、家庭和个人提供服务。麦奎尔医生拥有伊利诺伊大学芝加哥分校博士学位和芝加哥大学硕士学位。

Dr. McKelvey leads a multidisciplinary clinic that provides comprehensive services for adolescents and adults with Down syndrome. He is interested in public health issues that take into account the growing number of people with genetic syndromes and the complex interplay of medical and social needs in this population across lifespan. Dr. McKelvey has published original research investigating the etiology of osteoporosis in individuals with Down syndrome and has worked as Principal Investigator on clinical trials involving cognitive aspects of Down syndrome. He is actively researching nutrition, autoimmunity and the role of inflammation as it relates to dementia. He is interested in biomarkers and genetic changes which predict the early onset of common diseases in Down syndrome and also have implications for treatment of disease in the general population.
*In loving memory of Dr. Kent McKelvey, who dedicated his life to caring for adults with Down syndrome. His leadership and belief in GLOBAL gave us the confidence to create this important guideline. We are forever grateful.

莫亚-彼得森是堪萨斯大学医学中心护理学院和医学院家庭与社区医学系的临床教授。她创办了成人唐氏综合症专科门诊,并担任其工作人员。她还担任护理学院研究生课程的教学工作,她的大部分教学工作都围绕残疾人,尤其是患有唐氏综合症的成人展开。Peterson 博士于 2006 年完成了她的博士论文,论文的主题是患有唐氏综合症的成年人及其家人对成年后健康问题的担忧。当她发现中西部地区没有专门针对唐氏综合症成人的医疗保健提供者时,这就是创办诊所的导火线。


Carl V. Tyler Jr. is a clinician-researcher and professor at the Cleveland Clinic. His life work has been devoted to improving the health and health care of persons with developmental disabilities through clinical care, research, and professional and community education. His clinical training in psychiatry, family medicine, and geriatric medicine provided a rich clinical foundation and framework to understand the difficulties and complexities in providing health care to this population. Following medical school and residency training, Dr. Tyler completed two academic fellowships at Case Western Reserve University; the first focused on aging and disability while the second was a 3-year NIH-sponsored fellowship in practice-based research design and methodology. Dr. Tyler is also the Director of the Developmental Disabilities-Practice-Based Research Network.

Michelle Sie Whitten is the Co-Founder, President & CEO of the Global Down Syndrome Foundation. GLOBAL is dedicated to significantly improving the lives of people with Down syndrome through Research, Medical Care, Education and Advocacy. As a direct result of Michelle & GLOBAL’s impactful government advocacy, NIH budget for Down syndrome has gone from one of the least funded to quadrupling in the last four years. In addition, Michelle served as a co-author and architect of the 2020 GLOBAL Guideline as published in JAMA. She has been recognized for her dedication to improving the lives of people with Down syndrome over the past decade, including: 17 ICON Awards, Denver Business Journal's Most Admired CEO, 2 National Down Syndrome Congress President’s Awards, Arc Thrift Stores’ inaugural Distinguished Disability Leadership Award and NewsED Civil Rights Award.
Prior to her career in the non-profit sector, Michelle was a cable TV pioneer in East Asia working for Liberty Media Corporation and Starz Encore. For her work during that time, she received the 40 Under 40 Achievement Award, the Real Women: Outstanding Entrepreneur Award and the Women in Cable & Telecommunications Walk of Fame Award. Her academic career was focused on international security and diplomacy and she holds a Masters degree and business certificate from Harvard University. She graduated Magna Cum Laude with a Bachelors degree from Tufts University and studied Mandarin Chinese and Women Studies at Peking University. Michelle is married to Tom, a British curator of Chinese contemporary art and they have two children, Sophia, who happens to have Down syndrome and Patrick, who is typical.

Bryn Gelaro joined the GLOBAL team in 2015 as a consultant and is currently the Senior Director of Adult Initiatives and Special Projects. She is a Licensed Social Worker with a background in behavioral health for adults with adults with Down syndrome. Her work includes furthering GLOBAL’s adult care initiatives, serving as an executive committee member and co-author of GLOBAL’s Medical Care Guidelines for Adults with Down syndrome, and managing the development and operations of GLOBAL’s efforts to open a World Class Medical Clinic for adults with Down syndrome. In addition, her role oversees many of GLOBAL’s exciting international projects, including work with Albania, Uganda, and Iceland. Bryn has spoken to parents, educators, and medical professionals at conferences across the nation, including the National Down Syndrome Congress, the Down Syndrome Medical Interest Group, and the Down Syndrome Affiliates in Action. She coauthored research on Down syndrome in Uganda and was a contributor to the Prenatal Testing and Information about Down Syndrome Pamphlet (2nd Ed). Bryn earned her Bachelors of Science in Psychology from the Pennsylvania State University in 2012 and holds a Masters in social work from the University of Chicago’s School of Social Service and Administration in 2015. She completed her Master’s graduate field training at the Adult Down Syndrome Clinic in Chicago, where she facilitated social skills groups, completed assessments, conducted therapy, and occasionally tried to keep up in Zumba class with teens and adults with Down syndrome.

Michael Wells, BS, was the Research Coordinator for the Developmental Disabilities - Practice-Based Research Network (DD-PBRN). The DD-PBRN is a community-based participatory research network comprised uniquely of health care professionals, nurses, residential service providers, advocates and self-advocates. As Research Coordinator, Michael facilitates communication among these stakeholders, partner groups and prospective contacts or partners for future work. A major part of the coordinator role is dissemination of past, present and future work through academic lecture and poster presentations locally, regionally and nationally.
Expert Volunteer Contributors
Jarrett Barnhill (MD, DFAPA, FAACAP)
Donald Bodenner (MD, PhD)
Paul Camarata (MD)
Kamala Gullapalli Cotts (MD)
Rober H. Eckel (MD)
Anna Esbensen (PhD)
James E. Hunt (MD)
Seth Keller (MD)
Judy Lu Kim (MD)
Ira Lott (MD)
Michael McDermott (MD)
Joan Medlen (MEd, RD, LD)
Micol Rothman (MD)
Stephanie Santoro (MD)
Mary Stephens (MD, MHP)
Elizabeth Yeung (MD)
Joaquín M. Espinosa (PhD)
Joann Fontanarosa (PhD)
Gina Giradi (MS)
Allison Gross (MLS)
Janice Kaczmarek (MS)
Lina R. Patel (PsyD)
Michael S. Rafii (MD, PhD)
Karen Schoelles (MD, SM, FACP)

of Dr. Kent McKelvey Jr., who dedicated his life to caring for adults with Down syndrome. His leadership and belief in GLOBAL gave us the confidence to create this important guideline. We, and the Down syndrome community, are forever grateful.
GENEROUS COMMUNITY SUPPORTERS
KEY COLLABORATOR
The Ritter Family
Shawna Lucas
MULTI-YEAR SUPPORTERS
亚当营地
Arc Thrift Stores
抚养唐氏综合症(BUDS)
布劳沃德黄金海岸唐氏综合症组织
北达科他州的基因设计师
下乡
内布拉斯加州唐氏综合症倡导者行动组织
中部地区唐氏综合症联盟
亚特兰大唐氏综合症协会
Down Syndrome Association of Central California
肯塔基州中部唐氏综合症协会
俄克拉荷马州中部唐氏综合症协会
德克萨斯州中部唐氏综合症协会
大新奥尔良唐氏综合症协会
大圣路易斯唐氏综合症协会
大温斯顿-塞勒姆地区唐氏综合症协会
杰克逊维尔唐氏综合症协会
Down Syndrome Association of Memphis & the Mid-South
中田纳西唐氏综合症协会
明尼苏达州唐氏综合症协会
印第安纳州东北部唐氏综合症协会
俄亥俄州东北部唐氏综合症协会
北弗吉尼亚唐氏综合症协会
南佐治亚唐氏综合症协会
新泽西州南部唐氏综合症协会
威斯康星州唐氏综合症协会
Down Syndrome Coalition for El Paso
拉斯维加斯唐氏综合症联系中心
湾区唐氏综合症联系组织
唐氏综合症家庭联系
达拉斯唐氏综合症协会
印第安纳州唐氏综合症
蒙哥马利县唐氏综合症网络
路易斯维尔唐氏综合症
东德克萨斯唐氏综合症小组
GraceSigns
IMDSA
Japan Down Syndrome Association
全国唐氏综合症大会
北卡罗来纳州唐氏综合症联盟
里奥格兰德河谷唐氏综合症协会
落基山唐氏综合症协会
分享亚利桑那州唐氏综合症
南亚利桑那州唐氏综合症网络
弗吉尼亚唐氏综合症协会
Dra. Macarena Lizama & Centro UC Síndrome de Down
BENEFACTORS
Burg Family Foundation
KEY SUPPORTERS
艾米-范伯根
Anna & John J. Sie Center for Down Syndrome
Charles Monfort
佛罗里达州中部唐氏综合症协会
Down Syndrome Association of Central Ohio
Down Syndrome Association of Orange County
Down Syndrome of Louisville, Inc.
琳达-克尼克唐氏综合症研究所
The Napoleone Family
SUPPORTERS
ChapTer 21
北达科他州的基因设计师
唐氏综合症联盟在行动
阿拉巴马州唐氏综合症
内布拉斯加州唐氏综合症家庭协会
Down Syndrome Association of Acadiana
康涅狄格州唐氏综合症协会
大辛辛那提唐氏综合症协会
北弗吉尼亚唐氏综合症协会
欢乐海岸唐氏综合症协会
The Family of Rya Gracyn Pierce
FRIENDS
Alan P. & Veronica C. Neuman Family
Charitable Fund
阿拉斯加唐氏综合症网络
Chattanooga Down Syndrome Society
俱乐部 21 学习与资源中心
戴维-伊根及家人
肯塔基州中部唐氏综合症协会
俄克拉荷马州中部唐氏综合症协会
特拉华州唐氏综合症协会
俄亥俄州东北部唐氏综合症协会
Down Syndrome Association of the Brazos Valley
Down Syndrome Association of Wisconsin, Inc.
唐氏综合症家庭联系
Down Syndrome Foundation of Southeastern New Mexico
东爱达荷州唐氏综合症家庭联系组织
Families Exploring Down Syndrome of Brevard
国际马赛克唐氏综合症协会
克恩唐氏综合症网络
Red River Valley Down Syndrome Society
里奥格兰德河谷唐氏综合症协会
Sampson Collaborative Law
关于唐氏综合症的 S.M.I.L.E.
Wisconsin Upside Down
OTHER HELPFUL RESOURCES
Down Syndrome Medical Care Centers in the U.S.
GLOBAL Webinar Series: Important Medical Updates
Immune Skin Conditions Clinical Trial
The purpose of this research is to better understand and treat immune skin conditions in people with Down syndrome.
琳达-克尼克唐氏综合症研究所
Improving the lives of people with DS through advanced biomedical research with an ultimate goal to enable precision medicine approaches to improve health outcomes in Down syndrome, including the development of new diagnostic and therapeutic tools.
Down Syndrome Medical Interest Group-USA
American Academy of Developmental Medicine and Dentistry
Special Thanks to 2020 GLOBAL Adult Workgroup
Authors
Peter Bulova
George Capone
Brian Chicoine
Terry Harville
Barry Martin
Dennis McGuire
Kent McKelvey
Bryn Gelaro
Moya Peterson
Amy Tsou
Carl Tyler
Michael Wells
Michelle Sie Whitten
Committee Members
Dr. Jarrett Barnhill
Dr. Donald Bodenner
Dr. Paul Camarata
Dr. Kamala Gullapalli Cotts
Dr. Robert Eckel
Dr. Anna Esbensen
Dr. James E. Hunt
Dr. Seth Keller
Dr Judy Lu Kim
Dr. Ira Lott
Dr. Michael McDermott
Joan Medlen
Dr. Micol Rothman
Dr. Stephanie Santoro
Dr. Mary Stephens
Dr. Elizabeth Yeung
Contributors
Dr. Joaquin Espinosa
Dr. Joann Fontanarosa
Gina Giradi
Allison Gross
Janice Kaczmarek
Dr. Lina Patel
Dr. Michael Rafii
Dr, Karen Schoelles