Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Massachusetts 02114, USA.
Am J Med Genet A. 2013 Mar;161A(3):430-7. doi: 10.1002/ajmg.a.35795. Epub 2013 Feb 7.
We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural year of our specialty clinic. We asked how many of our patients were already up-to-date on the healthcare screenings recommended for people with Down syndrome. We further analyzed what tests we ordered, which referrals we suggested, and, ultimately, what new diagnoses of co-occurring medical conditions were made. Only 9.8% of our patients were current on all of the recommended Down syndrome healthcare screenings. Parents came to clinic with a variety of concerns, and after laboratory tests, radiologic studies, and subspecialty referrals, we made many new diagnoses of gastrointestinal conditions (e.g., constipation and celiac disease), seasonal allergies, dermatologic conditions (e.g., xerosis), behavioral diagnoses (e.g., autism spectrum disorder and disruptive behavior not otherwise specified), and clarifications of neurologic conditions. A Down syndrome specialty clinic can identify and address many healthcare needs of children and adolescents with Down syndrome beyond that which is provided in primary care settings.
我们研究了唐氏综合征专科诊所对唐氏综合征儿童和青少年的医疗需求有何额外的（如果有的话）价值。在这项质量改进研究中，我们对我们专科诊所成立第一年的 105 名新唐氏综合征患者（年龄在 3 岁及以上）进行了回顾性病历审查。我们询问了我们的多少患者已经完成了唐氏综合征推荐的所有医疗筛查。我们进一步分析了我们开了哪些检查，建议了哪些转诊，以及最终发现了哪些新的共患医疗状况的诊断。只有 9.8%的患者完成了所有推荐的唐氏综合征医疗筛查。家长们带着各种问题来到诊所，在进行了实验室检查、影像学研究和专科转诊后，我们做出了许多新的胃肠道疾病（如便秘和乳糜泻）、季节性过敏、皮肤状况（如干燥）、行为诊断（如自闭症谱系障碍和特定的破坏性行为障碍）和神经状况的澄清诊断。唐氏综合征专科诊所可以发现并解决唐氏综合征儿童和青少年的许多超出初级保健机构提供的医疗需求。
