Construction of school life support model incorporating genetic knowledge for children with rare chromosomal disease

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K21085
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0908:Society medicine, nursing, and related fields
• Research Institution: Yamaguchi University
• Principal Investigator: Kutsunugi Saeko 山口大学, 大学院医学系研究科, 講師 (50513785)
• Project Period (FY): 2022-08-31 – 2024-03-31
• Keywords: 遺伝性疾患 / 希少疾患 / 難病 / 学校看護 / 遺伝看護

Outline of Final Research Achievements

Focusing on rare chromosome disorders, this study was conducted with the aim of developing a model plan for cooperation between medical care, education and family to realize a school life that respects the unique characteristics of the child with the disorder. As a first step, a scoping review was conducted on what problems children with disorders face in their school life and how they, their families and school personnel cope with them. In the second phase, we investigated what information teachers and school nurses working with children with disorders at school receive about the children from their families, and what aspects of the children's characteristics and personality they perceive when working with the children.

Free Research Field

遺伝看護

Academic Significance and Societal Importance of the Research Achievements

近年の遺伝医学の進歩は目覚ましく、かつては「原因不明の発達遅滞」や「知的障害」とされたようなケースであっても現在では詳細な遺伝子や染色体の異常やそれを基にした診断がつくケースが増加している。診断がつくことで、その疾患の特性や関わる上での留意点や工夫に関する情報も蓄積され、より個々の児に合わせた支援や教育が可能になると思われる。医学の進歩により明らかにされた知見が児の育児や教育現場での支援においても活用される事が望まれ、今後も医療・教育・家庭の連携を進めていく必要がある。