唐氏综合症成人痴呆症的实际情况（和真实经历）。

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-05 DOI:10.1002/ajmg.c.32098

Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro

{"title":"唐氏综合症成人痴呆症的实际情况（和真实经历）。","authors":"Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro","doi":"10.1002/ajmg.c.32098","DOIUrl":null,"url":null,"abstract":"Adults with down syndrome (DS) have a lifetime dementia risk in excess of 95%, with a median age of onset of 55 years, due to trisomy 21. Co-occurring Alzheimer's disease (AD) has increased morbidity and mortality, and it is now recommended to screen for AD in all adults with DS beginning at 40 years of age. In this manuscript, we present two clinical cases of adults with DS who developed AD summarizing their medical histories, presenting symptoms, path to diagnosis and psychosocial aspects of care collected from retrospective chart review with caregiver consent. These two cases were chosen due to their complexity and interwoven nature of the medical and psychosocial aspects, and highlight the complexity and nuance of caring for patients with DS and AD.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Practicalities (and real-life experiences) of dementia in adults with Down syndrome.\",\"authors\":\"Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro\",\"doi\":\"10.1002/ajmg.c.32098\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Adults with down syndrome (DS) have a lifetime dementia risk in excess of 95%, with a median age of onset of 55 years, due to trisomy 21. Co-occurring Alzheimer's disease (AD) has increased morbidity and mortality, and it is now recommended to screen for AD in all adults with DS beginning at 40 years of age. In this manuscript, we present two clinical cases of adults with DS who developed AD summarizing their medical histories, presenting symptoms, path to diagnosis and psychosocial aspects of care collected from retrospective chart review with caregiver consent. These two cases were chosen due to their complexity and interwoven nature of the medical and psychosocial aspects, and highlight the complexity and nuance of caring for patients with DS and AD.\",\"PeriodicalId\":7445,\"journal\":{\"name\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-07-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.c.32098\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ajmg.c.32098","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

由于 21 三体综合征（DS），患有唐氏综合征（Down Syndrome，DS）的成人一生中患痴呆症的风险超过 95%，发病年龄中位数为 55 岁。合并阿尔茨海默病（AD）会增加发病率和死亡率，目前建议所有患有绒毛膜促性腺激素综合征的成人从 40 岁开始筛查 AD。在本手稿中，我们介绍了两例罹患阿兹海默症的成年 DS 患者的临床病例，总结了他们的病史、主要症状、诊断路径和护理的社会心理方面。之所以选择这两个病例，是因为它们的复杂性以及医疗和社会心理方面相互交织的性质，并突出了护理 DS 和 AD 患者的复杂性和细微差别。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Practicalities (and real-life experiences) of dementia in adults with Down syndrome.

Adults with down syndrome (DS) have a lifetime dementia risk in excess of 95%, with a median age of onset of 55 years, due to trisomy 21. Co-occurring Alzheimer's disease (AD) has increased morbidity and mortality, and it is now recommended to screen for AD in all adults with DS beginning at 40 years of age. In this manuscript, we present two clinical cases of adults with DS who developed AD summarizing their medical histories, presenting symptoms, path to diagnosis and psychosocial aspects of care collected from retrospective chart review with caregiver consent. These two cases were chosen due to their complexity and interwoven nature of the medical and psychosocial aspects, and highlight the complexity and nuance of caring for patients with DS and AD.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.