Northeastern University, USA; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Eur J Med Genet. 2022 Aug;65(8):104550. doi: 10.1016/j.ejmg.2022.104550. Epub 2022 Jun 21.
Individuals with Down syndrome have an increased prevalence of various medical conditions across the lifespan; multidisciplinary Down syndrome specialty clinics can address these needs. However, the caregiver-perceived purpose of bringing their loved one to a Down syndrome specialty clinic has not been investigated.
Retrospective review of electronic intake forms, completed prior to visits at MGH's Down Syndrome Program, was completed. Caregiver concerns were coded and analyzed by visit type (new patient vs follow-up), age, gender, and race.
Information from 722 unique patients (53.6% male) across 1,526 visits from 2014 to 2021 were reviewed resulting in 3,762 concerns. Caregivers of children with Down syndrome ages 0-4, and 13-39 reported a top concern of health maintenance which includes establishing patient care and preventative measures. Behavior was the top concern for caregivers of children with Down syndrome ages 5-12. For adults with Down syndrome, ages 40 years or older, neurologic considerations, including regression and dementia, was the top caregiver concern. Across the entire sample, the top three concerns did not vary by gender.
The top concerns of caregivers of individuals with Down syndrome fluctuate across the lifespan. Growing multidisciplinary specialty clinics for Down syndrome may use these findings to ensure that caregivers' concerns are addressed and improve patient experience.
唐氏综合征患者在整个生命周期中都存在多种医疗状况的高发率；多学科唐氏综合征专科诊所可以满足这些需求。然而，尚未研究照顾者带其亲人去唐氏综合征专科诊所的目的。
对 2014 年至 2021 年间在马萨诸塞州总医院唐氏综合征项目就诊前完成的电子录入表进行回顾性审查。根据就诊类型（新患者与随访）、年龄、性别和种族对照顾者的关注点进行编码和分析。
从 2014 年至 2021 年期间的 1526 次就诊中，共纳入 722 名患者（53.6%为男性）的信息，共计 3762 个关注点。唐氏综合征患儿（0-4 岁和 13-39 岁）的照顾者最关心的是健康维护，包括建立患者护理和预防措施。唐氏综合征患儿（5-12 岁）的照顾者最关心的是行为问题。对于 40 岁及以上的成年唐氏综合征患者，神经方面的问题，包括退行性病变和痴呆，是照顾者最关心的问题。在整个样本中，前三大关注点不受性别影响。
唐氏综合征患者照顾者的关注点随年龄变化而波动。不断发展的唐氏综合征多学科专科诊所可以利用这些发现，确保照顾者的关注点得到解决，提高患者体验。
