Developing support network for the parents and the child with rare chromosomal abnormality

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K17554
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 58070:Lifelong developmental nursing-related
• Research Institution: Yamaguchi University
• Principal Investigator: Kutsunugi Saeko 山口大学, 大学院医学系研究科, 助教 (50513785)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 染色体異常 / 稀少疾患 / 遺伝看護 / ネットワーク / 家族会 / 難病

Outline of Final Research Achievements

This study aimed to investigate the process mothers go through in coming to terms with raising a child with chromosomal structural abnormalities.Sixteen mothers living in Japan were interviewed and a modified grounded theory approach was used for the analysis.
Having support and meeting peer of mothers with similar issues is essential for mothers to review their perspectives that healthy children are the standard against which to measure their child and to motivate them to raise their children, but it was extremely difficult to have such opportunities due to rarity of the disorder. It is crucial to accumulate more practical information so that mothers can access and use it. Mothers also need support to enhance their self-worth while giving due consideration to the possibility that they may conscious of being stigmatized. Nurses need to advocate for these children and families to get the appropriate help, understanding and support.

Free Research Field

遺伝看護

Academic Significance and Societal Importance of the Research Achievements

近年の遺伝学的検査の技術の進歩により、染色体構造異常に関しても多くの情報が得られるようになった。以前であれば「原因不明の先天異常」等の診断しかつけることができなかった症例であっても、詳細な染色体の欠失/重複部位や、それを基にした診断名がつけられるようになりつつある。世界的にIRDiRCが2011年に設立されたのに続き、日本においても2015年にIRUDが立ち上げられている。しかし、診断がついても、子育てを行うための具体的な情報は得られにくい。このような状況下で疾患をもつ子どもの家族の体験を明らかにし、支援の方策を検討することは急務であると考え、本プロジェクトを実施した。