Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have es...

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Main Authors: Yong-Lin Foo, Julie Chi Chow, Ming-Chi Lai, Wen-Hui Tsai, Li-Chen Tung, Mei-Chin Kuo, Shio-Jean Lin
Format: Article
Language:English
Published: Elsevier 2015-08-01
Series:Pediatrics and Neonatology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957214001594
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author Yong-Lin Foo
Julie Chi Chow
Ming-Chi Lai
Wen-Hui Tsai
Li-Chen Tung
Mei-Chin Kuo
Shio-Jean Lin
author_facet Yong-Lin Foo
Julie Chi Chow
Ming-Chi Lai
Wen-Hui Tsai
Li-Chen Tung
Mei-Chin Kuo
Shio-Jean Lin
author_sort Yong-Lin Foo
collection DOAJ
description This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.
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spelling doaj.art-63ef75ab87404641801c654f162f23342022-12-22T00:33:54ZengElsevierPediatrics and Neonatology1875-95722015-08-0156421321910.1016/j.pedneo.2014.08.001Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in TaiwanYong-Lin Foo0Julie Chi Chow1Ming-Chi Lai2Wen-Hui Tsai3Li-Chen Tung4Mei-Chin Kuo5Shio-Jean Lin6Division of Pediatric Neurology, Department of Pediatrics, Chi Mei Foundation Hospital, Tainan 710, TaiwanDivision of Pediatric Neurology, Department of Pediatrics, Chi Mei Foundation Hospital, Tainan 710, TaiwanDivision of Pediatric Neurology, Department of Pediatrics, Chi Mei Foundation Hospital, Tainan 710, TaiwanGenetic Counseling Center, Chi Mei Foundation Hospital, Tainan 710, TaiwanDepartment of Physical Medicine and Rehabilitation, Chi Mei Medical Center, Tainan 710, TaiwanDivision of Pediatric Neurology, Department of Pediatrics, Chi Mei Foundation Hospital, Tainan 710, TaiwanDepartment of Physical Medicine and Rehabilitation, Chi Mei Medical Center, Tainan 710, TaiwanThis review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.http://www.sciencedirect.com/science/article/pii/S1875957214001594developmental delaygenetic evaluationsystems in Taiwan
spellingShingle Yong-Lin Foo
Julie Chi Chow
Ming-Chi Lai
Wen-Hui Tsai
Li-Chen Tung
Mei-Chin Kuo
Shio-Jean Lin
Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
Pediatrics and Neonatology
developmental delay
genetic evaluation
systems in Taiwan
title Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
title_full Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
title_fullStr Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
title_full_unstemmed Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
title_short Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan
title_sort genetic evaluation of children with global developmental delay current status of network systems in taiwan
topic developmental delay
genetic evaluation
systems in Taiwan
url http://www.sciencedirect.com/science/article/pii/S1875957214001594
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