American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第6页

The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan 美国国立卫生研究院 INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) 项目：加速对唐氏综合症患者整个生命周期的研究发现。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-01-10 DOI: 10.1002/ajmg.c.32081

Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A. Parisi

{"title":"The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan","authors":"Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A. Parisi","doi":"10.1002/ajmg.c.32081","DOIUrl":"10.1002/ajmg.c.32081","url":null,"abstract":"The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer's disease. Due to a steady expansion in dedicated funding over its first 5 years, INCLUDE has invested $258 M in over 250 new research projects. INCLUDE also supports training initiatives to expand the number and diversity of investigators studying DS. NIH has funded an INCLUDE Data Coordinating Center that is collecting de-identified clinical information and multi-omics data from research participants for broad data sharing and secondary analyses. Through the DS-Connect® registry, INCLUDE investigators can access recruitment support. The INCLUDE Research Plan articulates research goals for the program, with an emphasis on diversity of research participants and investigators. Finally, a new Cohort Development Program is poised to increase the impact of the INCLUDE Project by recruiting a large DS cohort across the lifespan.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139401337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Cover Image, Volume 193, Number 4, December 2023 封面图片，第 193 卷第 4 号，2023 年 12 月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.31985

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Table of Contents, Volume 193, Number 4, December 2023 目录，第 193 卷，第 4 号，2023 年 12 月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.31983

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Down syndrome across the lifespan 跨越生命周期的唐氏综合征。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.32082

Stephanie L. Santoro

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Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era 回顾 COVID-19 时代唐氏综合征患者的代码状态

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-12 DOI: 10.1002/ajmg.c.32080

Jennifer Jett, Alexander Fossi, Heather Blonsky, Wendy Ross, Sabra Townsend, Mary M. Stephens, Brian Chicoine, Stephanie L. Santoro

{"title":"Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era","authors":"Jennifer Jett, Alexander Fossi, Heather Blonsky, Wendy Ross, Sabra Townsend, Mary M. Stephens, Brian Chicoine, Stephanie L. Santoro","doi":"10.1002/ajmg.c.32080","DOIUrl":"10.1002/ajmg.c.32080","url":null,"abstract":"Code status is a label in the medical record indicating a patient's wishes for end-of-life (EOL) care in the event of a cardiopulmonary arrest. People with intellectual disabilities had a higher risk of both diagnosis and mortality from coronavirus infections (COVID-19) than the general population. Clinicians and disability advocates raised concerns that bias, diagnostic overshadowing, and ableism could impact the allocation of code status and treatment options, for patients with intellectual disabilities, including Down syndrome (DS). To study this, retrospective claims data from the Vizient® Clinical Data Base (used with permission of Vizient, all rights reserved.) of inpatient encounters with pneumonia (PNA) and/or COVID-19 at 825 hospitals from January 2019 to June 2022 were included. Claims data was analyzed for risk of mortality and risk of “Do Not Resuscitate” (DNR) status upon admission, considering patient age, admission source, Elixhauser comorbidities (excluding behavioral health), and DS. Logistic regression models with backward selection were created. In total, 1,739,549 inpatient encounters with diagnoses of COVID-19, PNA, or both were included. After controlling for other risk factors, a person with a diagnosis of DS and a diagnosis of COVID-19 PNA had 6.321 odds ratio of having a DNR status ordered at admission to the hospital compared with those with COVID-19 PNA without DS. The diagnosis of DS had the strongest association with DNR status after controlling for other risk factors. Open and honest discussions among healthcare professionals to foster equitable approaches to EOL care and code status are needed.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138693330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Listening to patients with suspected genetic diagnoses: A narrative perspective 倾听疑似基因诊断的患者:叙述视角。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-04 DOI: 10.1002/ajmg.c.32079

Robert B. Slocum, Anna C. E. Hurst, Ellis Shelley, Lisa Berry, Robert J. Hopkin, Alyssa L. Rippert, Elizabeth Bhoj, John M. Graham Jr, Katheryn Grand, Aixa Gonzalez, Yuri A. Zarate

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Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder 唐氏综合症退行性障碍年轻成人继发于电休克治疗的Takotsubo心肌病

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 DOI: 10.1002/ajmg.c.32078

María del Carmen Ortega, José Pablo Bullard, María del Mar Unceta, Felipe Ortuño Sánchez-Pedreño, Patricio Molero, Diego Real de Asúa

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Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series 经历发育技能丧失的唐氏综合症儿童，特征和现象:一个病例系列。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-16 DOI: 10.1002/ajmg.c.32077

Susana Bernad-Ripoll, Meghan O'Neill, George T. Capone

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Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome 唐氏综合症患者护理人员的医疗保健满意度和医学知识习惯。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-09 DOI: 10.1002/ajmg.c.32074

Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko

{"title":"Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome","authors":"Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko","doi":"10.1002/ajmg.c.32074","DOIUrl":"10.1002/ajmg.c.32074","url":null,"abstract":"Patients with Down syndrome have significant specialized health care needs. Our objective was to understand the needs, satisfaction, and online habits of caregivers as they care for persons with Down syndrome. A mixed-method survey was distributed through REDCap from April 2022 to June 2022 in the United States; a Spanish-translated version was distributed through SurveyMonkey from August 2022 to March 2023 in Mexico. We received 290 completed responses from the United States and 58 from caregivers in Mexico. We found that current health care options are not meeting the needs of many individuals with DS in both the United States (39.7%) and Mexico (46.6%). Caregivers expressed frustrations with the inaccessibility and inapplicability of health care information. In particular, they often found the volume of information overwhelming, given their limited medical background. Additionally, health care recommendations were not customized and lacked practical recommendations. Most caregivers in both the United States (72.1%) and Mexico (82.8%) believe it is not easy to find answers to medical questions about their loved ones with DS. Online platforms with customized, specific health information related to DS could offer innovative solutions to these unmet needs for families and primary care providers.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Family adaptation in families of individuals with Down syndrome from 12 countries 来自12个国家的唐氏综合症患者家庭的家庭适应。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-06 DOI: 10.1002/ajmg.c.32075

Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva

{"title":"Family adaptation in families of individuals with Down syndrome from 12 countries","authors":"Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva","doi":"10.1002/ajmg.c.32075","DOIUrl":"10.1002/ajmg.c.32075","url":null,"abstract":"Our current understanding of adaptation in families of individuals with Down syndrome (DS) is based primarily on findings from studies focused on participants from a single country. Guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, the purpose of this cross-country investigation, which is part of a larger, mixed methods study, was twofold: (1) to compare family adaptation in 12 countries, and (2) to examine the relationships between family variables and family adaptation. The focus of this study is data collected in the 12 countries where at least 30 parents completed the survey. Descriptive statistics were generated, and mean family adaptation was modeled in terms of each predictor independently, controlling for an effect on covariates. A parsimonious composite model for mean family adaptation was adaptively generated. While there were cross-country differences, standardized family adaptation mean scores fell within the average range for all 12 countries. Key components of the guiding framework (i.e., family demands, family appraisal, family resources, and family problem-solving communication) were important predictors of family adaptation. More cross-country studies, as well as longitudinal studies, are needed to fully understand how culture and social determinants of health influence family adaptation in families of individuals with DS.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71477036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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