Key Findings:
- FSHD in childhood is more prevalent than previously known, with an estimated prevalence of 1 in 100,000 children in The Netherlands.
- The phenotype is heterogeneous, with common features including facial weakness, decreased functional exercise capacity, lumbar hyperlordosis, and increased echo intensity on muscle ultrasonography.
- Pain and fatigue are frequent, and patients often experience a lower quality of life compared to healthy peers.
- Systemic features such as hearing loss, retinal abnormalities, and cardiac issues are infrequent and subclinical.
- The genotype of childhood FSHD resembles that of classic FSHD, with a mean D4Z4 repeat array of 5 units and 14% of mutations being de novo.
Implications for Practitioners:
The study highlights the importance of early diagnosis and intervention. Practitioners should consider the following strategies to improve care for children with FSHD:
- Regular monitoring of muscle strength and performance through manual muscle testing and muscle ultrasonography.
- Incorporating functional exercise capacity tests, such as the 6-minute walk test, into routine assessments.
- Addressing pain and fatigue through a multidisciplinary approach, including physical therapy and psychological support.
- Providing comprehensive genetic counseling to families, especially in cases of de novo mutations.
- Ensuring access to regular educational and extracurricular activities to support social and emotional well-being.
Encouraging Further Research:
This study serves as a foundation for future research on childhood FSHD. Practitioners are encouraged to contribute to ongoing research efforts by:
- Participating in longitudinal studies to track disease progression and treatment outcomes.
- Exploring the efficacy of new therapeutic interventions, such as aerobic exercise training and cognitive behavioral therapy, on improving quality of life and reducing fatigue.
- Collaborating with genetic researchers to better understand the molecular mechanisms underlying FSHD.
By integrating these research findings into clinical practice, practitioners can enhance their skills and provide better care for children with FSHD.
To read the original research paper, please follow this link: Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
