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Updated: Mar 26, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
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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.

Congenital Anomalies
|February 12, 2016
PubMed
Summary

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.

Keywords:
Down syndromeintegrated caremulti-disciplinary clinic

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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.