Mobility characteristics in children with hereditary spastic paraplegia

© 2013 Dr. Brooke AdairThe aim of this thesis was to investigate characteristic deviations in mobility and gait in children with hereditary spastic paraplegia (HSP). Hereditary spastic paraplegia is a neurodegenerative condition which is most commonly associated with limitations in functional mobility and gait dysfunction. Little quantitative information has been published describing the common mobility and gait deficits in children with HSP. The previous literature has not addressed the best measurement tools to quantify mobility nor has it provided objective evidence for changes in functional mobility over time in children with this condition. Although a small number of studies exist describing the kinematic gait deficits of children with HSP, results are limited to the sagittal plane of movement. A better understanding of the mobility and gait characteristics that are unique to this population would enable physiotherapists to provide a more holistic service to children and families with HSP. A greater depth of knowledge could help clinicians to develop more accurate hypotheses of the causative factors in gait and mobility disturbances, thereby facilitating the prioritisation of treatment techniques towards the most affected areas. A systematic literature review identified and critically evaluated outcome measures to quantify functional mobility in children with HSP. Evidence regarding the psychometric properties of functional mobility measures in this population was found to be limited. Three measurement tools were identified that clinicians may consider when assessing mobility in children with this condition. The outcome measures were the Gillette Functional Assessment Questionnaire, the Functional Mobility Scale and the Gross Motor Function Measures. The Functional Assessment Questionnaire and the Functional Mobility Scale were incorporated into three subsequent studies. A longitudinal study of retrospective data documented changes in functional mobility over time. Thirty children with HSP were assessed over an average of four years. Contrary to beliefs, analysis of functional mobility levels for the entire cohort demonstrated minimal changes over the period of assessment. Functional mobility over longer distances exhibited statistically significant improvements (p < .001). Functional mobility in the school environment was the only exception, with more children demonstrating a tendency towards deterioration over time. In general, the results indicate that not all children with HSP deteriorate in functional mobility over time. An analysis of retrospective kinematic gait data from 17 children with HSP confirmed that gait deviations existed in all three planes of movement when compared with the gait kinematics of unimpaired children. Overall, the deficits in the sagittal plane concurred with the previously published literature for children with HSP. The coronal plane revealed previously unreported kinematic gait deviations, including a reversal of the usual pattern of pelvic obliquity. These results confirm that kinematic deficits exist in all three planes of movement in children with HSP. Given the deviations at the proximal joints, further research is also warranted to describe the deficits at the trunk in children with this condition. A prospective study focussed on describing the kinematic deviations at the trunk, pelvis and hips in 11 children with HSP. Movements of the trunk and pelvis were found to be particularly compromised in the sagittal and coronal planes. These segments demonstrated larger amplitudes and subsequent increases in the ranges of movement. Although pelvic rotation showed little deviation when compared to unimpaired children, increased amplitudes of pelvic rotation were strongly associated with higher levels of functional mobility. These findings indicate that the trunk can be affected in some children with HSP. Further research is necessary to determine the cause of trunk and lower limb deficits in children with HSP. This thesis is the first to provide an in-depth analysis of mobility in children with HSP. Outcome measures were identified that can be utilised by physiotherapists when assessing children with this condition. The findings regarding mobility and gait characteristics in children with HSP are likely to assist physiotherapists and other health professionals to focus clinical assessments towards the most affected segments and planes. This information forms a foundation for future studies of mobility in HSP. In particular, the findings indicate the need for further investigations of longitudinal changes in mobility and the effectiveness of physiotherapy techniques in children with HSP. Ultimately, this new knowledge may help to improve the education of children and families with HSP, prioritise physiotherapy treatment plans and enable the best possible outcomes in children with this complex, neurological condition