JOURNAL OF PAEDIATRICS AND CHILD HEALTH, vol.58, no.11, pp.1997-2002, 2022 (SCI-Expanded)
Aim Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients. Methods We evaluated NF1 and control groups aged 4-18 years for muscle strength, tone and mobility using standard manual testing, joint motion and Beighton score measurements. Speech and language functions were assessed by speech articulation and resonance. As a marker of muscle tissue turnover, we determined collagen degradation products in urine before and after submaximal exercise. Results NF1 patients had reduced strength in proximal limb muscles compared to control subjects. Speech articulation problems and hypernasality were more common in NF1 (47% and 38%, respectively). Collagen products excreted in urine correlated with gluteal and biceps muscle strength. Conclusion Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems. If confirmed by further research, these findings may be relevant to the management of this condition.