The study employs a grounded theory approach to explore the lived experiences of children with MPS I and their parents. Key themes identified include:
- Breathing Concerns: The development of obstructive sleep apnea (OSA) at a young age is a significant worry for parents. Early intervention with enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) has shown marked improvement in symptoms.
- Language Acquisition: Delayed language development is a concern, particularly for children with the severe form of the disease. The study finds that ERT and HSCT contribute to significant improvements in speech, although some delays persist into adolescence.
- Musculoskeletal Disease: Pain and stiffness in muscles and joints affect children's mobility and participation in activities. While ERT improves these symptoms, it does not eliminate them, impacting children's social integration and emotional well-being.
For practitioners, these findings underscore the importance of early diagnosis and intervention. Implementing therapies such as ERT and HSCT as soon as possible can mitigate some of the more severe symptoms and improve quality of life. Additionally, understanding the emotional and social challenges these children face can guide more holistic and empathetic care strategies.
Encouraging further research is also crucial. While this study provides valuable insights, additional data on long-term outcomes and the effectiveness of different therapeutic interventions can help refine treatment protocols. Practitioners should advocate for and participate in ongoing research to continually improve the care and quality of life for children with MPS I.
To read the original research paper, please follow this link: Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children.
