Lippe, C. von der; Neteland, I.; Feragen, K.B. Children with a rare congenital genetic disorder: a systematic review of parent experiences. Orphanet Journal of Rare Diseases, v. 17, n. 375, 2022. Available at: https://doi.org/10.1186/s13023-022-02525-0. Accessed on: 2/3/2024.
👨👩👧👦 A systematic review reveals the challenges shared by parents of children with rare genetic diseases and highlights strategies to improve their experience.
- Why it matters: This study underlines the importance of knowledge and coordination in health care to improve support for parents of children with rare conditions.
🧠 What’s going on:
- Parents face a lack of knowledge in the health system and in society, resulting in challenges in diagnosis and treatment.
- Responsibilities and challenges: The lack of accessible information forces parents to become experts and advocates for their children’s needs.
🔍 Between the lines:
- Lack of coordinated care and social isolation are significant barriers.
- Positive factors: The empathy and engagement of health professionals, social support and personal coping mechanisms help parents adapt to the situation.
🏃 In a nutshell:
- Parents of children with rare diseases share common experiences of challenges and coping strategies.
- Suggested actions: Improving the coordination of care and valuing parents’ knowledge can alleviate some of these challenges.
🖼️ The big picture: This study highlights the critical need for specialized knowledge, coordinated care and social support for parents facing rare diseases in their children, drawing attention to the importance of integrated support strategies.
💭 O ur opinion: Empathy and support are just as crucial as medical knowledge in the care of rare diseases.
The article in questions and answers
What are the main themes that the findings of the review are categorized into?
The results of the systematic review were categorized into three main themes:
- Parents’ experiences with health care: This theme explores how parents interact with the health services responsible for caring for their children. Sub-themes include the lack of knowledge and experience of healthcare professionals in relation to rare conditions, lack of coordination in healthcare and uncertainties regarding prognosis, treatment and function 18.
- Responsibilities and challenges: This topic addresses the responsibilities that parents face when caring for their child with a rare genetic disorder. Sub-themes include the lack of information and knowledge in society, changes and adjustments in everyday life, parents acting as coordinators, advocates and experts, and emotional reactions 5.
- Factors that promote positive experiences in parents: This theme focuses on the factors that contribute to a positive adaptation in parents of children with rare conditions. Sub-themes include engaged and understanding health professionals, benefits of social support and protective factors and coping mechanisms 2.
Why is a more holistic approach in the follow-up of children with rare genetic disorders necessary, according to the conclusion of the review?
A more holistic approach to the follow-up of children with rare genetic disorders is considered necessary according to the conclusion of the review for several reasons:
- Common challenges: The review shows that parents of children with rare genetic disorders face many common challenges across different conditions. A holistic approach can address these shared challenges effectively 18.
- Lack of Knowledge of Health Professionals: The lack of knowledge of health professionals is identified as a major obstacle for parents in caring for their children. A holistic approach can help professionals optimize their interactions with families despite uncertainties and lack of knowledge 18.
- Coordinated Care: There is a need for more coordinated care for children with rare disorders. A holistic approach can ensure that the care provided is comprehensive, integrated and adapted to the specific needs of each child and their family 18.
- Valuing Parents’ Expertise: Parents’ expertise in managing their child’s rare disorder should be valued. A holistic approach can involve parents as active partners in the care process, recognizing and using their knowledge and experiences 18.
- International collaboration: Developing more international collaboration in research, diagnosis, and providing accurate and understandable information to both health professionals and lay people is essential. A holistic approach can facilitate this collaboration and knowledge sharing to improve care outcomes for children with rare genetic disorders 18.
How many qualitative studies were included in the systematic review, and what time frame did they cover?
The systematic review included a total of 33 qualitative articles 5. These studies covered a wide range of rare diagnoses and conditions, providing a comprehensive view of parents’ experiences of having a child with a rare genetic disorder 5. The time period of these studies was not explicitly mentioned in the excerpts provided.
Lippe, C. von der; Neteland, I.; Feragen, K.B. Children with a rare congenital genetic disorder: a systematic review of parent experiences. Orphanet Journal of Rare Diseases, v. 17, n. 375, 2022. Available at: https://doi.org/10.1186/s13023-022-02525-0. Accessed on: 2/3/2024.
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