Muscle function deficits in children with Neurofibromatosis Type 1, and potential interventions

Abstract

Introduction: Neurofibromatosis Type 1 (NF1) is a genetic condition that affects multiple systems. Children with NF1 are increasingly recognised to have muscle weakness. There are currently no recognised treatment strategies for muscle weakness in NF1. However, whole-body vibration (WBV) therapy presents a potential therapeutic option, having been shown to improve muscle function in other conditions characterised by muscle weakness. In this thesis, the deficits in muscle function in children with NF1 are studied. The impact that WBV therapy has on muscle function in addition to muscle-strengthening exercises alone in children with NF1 is investigated in a preliminary randomised interventional trial. Methods: Children aged 6-16 years with NF1 were screened for muscle weakness. Measures of muscle function (jumping power, hopping force, 6-minute walk test, grip force) were undertaken at baseline, prior to randomisation. Other assessments included measures of knee extensor muscles’ size, balance, physical activity, perceived fatigue, quality of life and attention. Participants were either allocated to conduct daily muscle-strengthening exercises at home for 6 months, or the daily exercises plus a home-based WBV therapy regime for 6 months. Outcome measures were repeated at the end of the 6-months. Results: Seventy-six children were screened for muscle weakness using grip force. Grip force standard deviation score (SDS) was significantly reduced in those screened (mean -1.8, standard deviation (SD) 1.5, P

Date of Award	1 Aug 2022
Original language	English
Awarding Institution	The University of Manchester
Supervisor	Peter Clayton (Supervisor) & Raja Padidela (Supervisor)