0-TESTO COMPLETO.pdf - Fondazione Santa Lucia

RF07.41 – Access equity and qualitative standard of rehabilitation in rare diseases…
An interview concerning rehabilitation approach and access will be
administered to the study population (see main aim 1) in order to assess the
effectiveness of the network. (All Units will be involved).
Secondary Aim 1 (Consensus on the best outcome measures)
Clinical outcome measures will be tested in a series of 100 CMT patients
(adults and children) and re-tested after a 1-year follow-up period. Impairment,
disability, QoL and composite scales will be used, chosen among those
proposed at a ENMC Meeting [Reilly et al. (2006) Neuromuscular Disorders].
The basal and final values and the correlation between the different outcome
measures will be analyzed Sensitivity to change will be assessed. Thirty of
these patients, including children, affected by CMT1A, CMTX, or CMT2 will
be also submitted to gait analysis studies. Correlation of the clinical outcome
measures with gait analysis results and with the different types of intervention
will be assessed. A consensus between experts will be reached on the basis of
the results and evidence from the literature. (All Units will be involved).
Secondary Aim 2 (Gait Analysis)
To develop and apply, in a subgroup of CMT patients, a quantitative and
objective protocol for the evaluation of treatment efficacy by means of techniques.
As regards the quantitative and objective evaluation protocol, a multifactorial
approach will be adopted using instruments for simultaneous and unobstrusive
kinematic, kinetic and EMG data capture. Protocol for the evaluation
of several postural and locomotor tasks, including static and dynamic posture,
gait, gait initiation, climbing and descending a step) will be considered.
Dedicated software for the elaboration of acquired data and automatic
extraction of specific parameters for each test will be developed, tested and
applied on a subgroup of CMT patients recruited in the project. (O.U. 2, 4, 5,
7, 8 will be involved).
Secondary Aim 3 (Pilot study on a new rehabilitation approach)
A pilot study will be performed to test the efficacy of a specific rehabilitation
program in CMT patients, irrespective of genetical diagnosis.
Briefly, 32 patients (16 males and 16 females) will undergo two rehabilitative
protocols, based on: a) joint deformities exercises, improvement of
muscle strength and balance, improvement of hand function, stretching of
contractured muscles, postural kinesitherapy, aimed at stabilizing pelvis
and reducing the knee and ankle compensation, proprioceptive kinesitherapy
and functional reeducation in order to improve balance and coordination
and reduce postural alterations secondary to the distal abnormalities
and deambulation training (protocol 1); and b) treadmill exercise combined
with week respiratory physiotherapy (PEP bottle and ELTGOL) (protocol 2).
Oxygen consumption and other additional clinical measurements will be
used as primary and secondary outcomes, respectively. (O.U.1, 3, 4 will be
involved).
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