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Integrated care for Down syndrome
Ni-Chung Lee1,2, Yin-Hsiu Chien1,2, Wuh-Liang Hwu1,2
1Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Insights
Down syndrome (DS), a genetic disorder from trisomy 21, causes intellectual disability and birth defects. A multidisciplinary clinic in Taiwan improves comprehensive care for DS patients, focusing on early detection and prevention of associated medical issues.
Area of Science:
- Genetics
- Pediatrics
- Medical Care
Background:
- Down syndrome (DS), or trisomy 21, is the most studied aneuploidy, leading to intellectual disability and birth defects.
- Despite high abortion rates for diagnosed fetuses in Taiwan, postnatal diagnoses occur, necessitating specialized care.
- Individuals with DS experience various systemic issues, including short stature, dysmorphism, congenital heart disease, and other anomalies.
Purpose of the Study:
- To establish a multidisciplinary clinic for comprehensive care of individuals with Down syndrome in Taiwan.
- To focus on early detection and prevention of medical and developmental issues associated with DS.
- To provide coordinated, specialized care for DS patients and their families.
Main Methods:
- Implementation of a monthly multidisciplinary clinic for Down syndrome patients.
- Involvement of various subspecialists to provide integrated care.
- Tracking patient numbers, age, and specialist caseloads since clinic inception in November 2013.
Main Results:
- Approximately 200 patients have utilized the clinic to date.
- The clinic serves an average of 27±6 patients per month, with a wide age range (0.3-53 years).
- Average specialist caseload is 5.2±4.9 patients per clinic day.
Conclusions:
- The multidisciplinary clinic provides comprehensive care for Down syndrome patients in Taiwan.
- This coordinated approach facilitates early detection and management of DS-related health concerns.
- The clinic has successfully supported a significant number of DS patients and families since its establishment.
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.
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