What do pediatric patients with long QT syndrome need to accept the disease and maintain adherence?

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K10381
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 58010:Medical management and medical sociology-related
• Research Institution: Sapporo Medical University
• Principal Investigator: Ishikawa Aki 札幌医科大学, 医学部, 助教 (70464485)
• Co-Investigator(Kenkyū-buntansha): 春日 亜衣 札幌医科大学, 医学部, 研究員 (00718124) ; 水上 都 札幌医科大学, 医学部, 訪問研究員 (20749311)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 先天性QT延長症候群 / 疾患受容 / アドヒアランス / 遺伝カウンセリング / 遺伝学的検査

Outline of Final Research Achievements

We performed a qualitative descriptive analysis by conducting semi-structured interviews with LQTS patients and their parents, to reveal the support required to maintain disease understanding, acceptance, and adherence in pediatric patients with congenital long QT syndrome (LQTS).The results showed that the inhibiting factors for maintaining adherence were individualized, and that support that facilitates the realization of a sense of self-control was effective as a facilitating factor.
This indicates the importance of providing information and psychosocial support tailored to the developmental stage and the individual, promoting disease awareness, and working with parents and other professionals to provide support that encourages the child to participate in medical management with conviction.　　　　　　　　Content for educational support required for a proper understanding of LQTS, and we have developed a rough draft of this content.

Free Research Field

臨床遺伝学

Academic Significance and Societal Importance of the Research Achievements

LQTSの診断は、国外では症状や家族歴が契機となるが、本邦では学校心臓検診が実施されており、自覚症状なしでLQTSと診断もしくは疑われることが多い。さらに網羅的ゲノム解析の二次的所見からLQTSと診断されるケースも想定される。米国遺伝医学会の指針(ACMG SF v3.1 list,2022)で二次的所見の開示が推奨されているActionable(対応可能)遺伝子は現在78遺伝子で、うち循環器疾患は37遺伝子含まれている。本研究の結果は、未発症のうちに遺伝性疾患と診断された場合の疾患受容やアドヒアランス維持に必要な支援を示しており、将来のゲノム医療を見据えた基盤研究としての意義は大きい。