title: Integrated care for Down syndrome.
abstract: Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of intellectual disability and birth defects. Although most prenatally diagnosed DS fetuses are aborted in Taiwan, there are still some infants with DS who are diagnosed after birth. In addition to intellectual disability, people with DS face systemic problems that include short stature, dysmorphism, congenital heart disease, congenital anomalies of gastrointestinal and genitourinary tracts, abnormal endocrine function, leukemia and leukemoid reactions. To provide better care for people with DS in Taiwan, we began the DS multi-disciplinary clinic that has opened once per month since November 2013. The multi-disciplinary clinic consists of several subspecialists who provide care for DS people. To date, approximately 200 patients have used the clinic. The average number of patients who use the clinic per month is 27±6 with a mean patient age of 16±12 years old (range 0.3-53 years). The average number of patients per specialist on each clinic day is 5.2±4.9 (range 0.5-20.9 patients). We focus on early detection and prevention of medical and developmental issues associated with DS. This coordinated approach allows DS patients and family to have more comprehensive care.
authors: Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.|Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors: Ni-Chung
authors: NC
authors: Lee
authors: Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.|Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors: Yin-Hsiu
authors: YH
authors: Chien
authors: Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.|Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors: Wuh-Liang
authors: WL
authors: Hwu
mesh_terms: D019033:Delivery of Health Care, Integrated; D004314:Down Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D011296:Prenatal Diagnosis; D015995:Prevalence; D058996:Quality Improvement; D013624:Taiwan / Q000453:epidemiology
keywords: Down syndrome; integrated care; multi-disciplinary clinic