Functional and Gait Assessment in Children and Adolescents Affected by Friedreich’s Ataxia: A One-Year Longitudinal Study

Abstract

Friedreich’s ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich’s ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich’s ataxia in this study together with 13 normally developing age-matched subjects. Eight patients completed a 12-month follow-up under the same protocol. By comparing the gait parameters of Friedreich’s ataxia with the control group, we found significant differences for some relevant indexes. In particular, the increased knee and ankle extension in stance revealed a peculiar biomechanical pattern, which correlated reliably with SARA Total, Gait and Sitting scores. The knee pattern showed its consistency also at the follow-up: Knee extension increased from 6.8±3.5° to -0.5±3.7° and was significantly correlated with the SARA total score. This feature anticipated the loss of the locomotor function in two patients. In conclusion, our findings demonstrate that the selective and segmental analysis of kinetic/kinematic features of ataxic gait, in particular the behavior of the knee, provides sensitive measures to detect specific longitudinal and functional alterations, more than the SARA scale, which however has proved to be a reliable and practical assessment tool. Functional outcomes measures integrated by instrumental evaluation increase their sensitivity, reliability and suitability for the follow-up of the disease progression and for the application in clinical trials and in rehabilitative programs.

Neurologic outcomes in Friedreich ataxia

“…The International Cooperative Ataxia Rating Scale 11 was initially used to quantify the severity of FRDA neurologic symptoms in natural history studies and clinical trials, but current studies use the Friedreich Ataxia Rating Scale (FARS) 8 or the Scale for the Assessment and Rating of Ataxia (SARA). 12 The FARS was conceived as a FRDA-specific scale capturing the various neurologic features of the disease, including sensory loss, weakness, and amyotrophy, in addition to ataxia. It also includes an assessment of activities of daily living (ADL), a general staging of disease progression, and several quantitative performance measures.…”

A review of gait disorders in the elderly and neurological patients for robot-assisted training

“…Gait speed was reported by four studies for elderly [17,18,19,20] and many of them described for different neurological patients. These include ten studies for Parkinson [21,22,23,24,25,26,27,28,29,30], five for Ataxia [4,25,31,32,33], four for Cerebral palsy [6,34,35,36,37], three for Charcot Marie Tooth [38,39,40], four for Neuropathy [41,42,43,44], four for Hemiplegia [14,45,46,47] and four for Diplegia group [48,49,50,51]. The meta-analysis report on gait velocity for elderly showed a significant difference when compared with the young group.…”

“…The meta-analysis report on hip range of movement (ROM) included three studies for elderly group [17,18,20] and the individual studies for neurological group included Parkinson [21,22,25,26,28,29,30], Ataxia [4,25,31,32,33], Cerebral palsy [6,34,35,36], Neuropathy [42,52], Hemiplegia [46,47,53]and Diplegia [49,50,51,54]. The studies on the elderly group reported lower ROM (mean difference as -1.79, 95 % CI -5.63 to 2.05, p=0.36) as compared to the young group with I = 78% heterogeneity but it was not reported to be significant ( Figure 5a).…”

Current behavioral assessments of movement disorders in children

“…For example, gait evaluations are always performed using a camera motion capture system while children walk on a walkway, and a video is recorded for further analysis. Additionally, motor analysis software is used to record a battery of the walking parameters, which is later analyzed to evaluate the gait status . This task is easy and minimizes the stress experienced by children but is not suitable for patients with severe gait disabilities.…”

“…Additionally, motor analysis software is used to record a battery of the walking parameters, which is later analyzed to evaluate the gait status. 86 requires measures to prevent children from falling, as well as expensive instruments and complex data analyses. A 3-dimensional kinematic analysis system 88 and robotic system 89 have also been used to assess ataxia of the upper limbs.…”