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Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan
Yong-Lin Foo1, Julie Chi Chow1, Ming-Chi Lai1
1Division of Pediatric Neurology, Department of Pediatrics, Chi Mei Foundation Hospital, Tainan 710, Taiwan.
Insights
Taiwan
Area of Science:
- Medical Genetics
- Developmental Pediatrics
- Public Health Policy
Background:
- Developmental delay in children poses significant challenges.
- Genetic factors are a major contributor to prenatal causes of developmental delay.
- Integrated medical, educational, and social welfare systems are crucial for affected children.
Purpose of the Study:
- To introduce the genetic evaluation screening and referral network for children with developmental delay in Taiwan.
- To summarize genetic disorders prevalent in the Taiwanese population.
- To provide insights into Taiwan's genetic testing and service system.
Main Methods:
- Review of existing literature and service systems in Taiwan.
- Analysis of the established network for screening, detection, referral, evaluation, and intervention.
- Examination of genetic diagnostic capabilities and limitations.
Main Results:
- Taiwan has a comprehensive network for developmental delay services across all regions.
- Increased awareness enhances early detection and intervention, though resource gaps persist.
- Genetic diagnosis facilitates counseling on recurrence risks and prevention strategies.
Conclusions:
- Taiwan's integrated approach to genetic evaluation for developmental delay offers a model for other nations.
- Despite funding challenges for advanced genetic tests, the system operates cost-effectively.
- Networking across various sectors is key to effective patient management and treatment.
Abstract:
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.
