Abstract
Background and purpose Individuals with Rett syndrome suffer from severely impaired cognitive and motor performance. Current movement-related therapeutic programs often include traditional physical therapy activities and assisted treadmill walking routines for those individuals who are ambulatory. However, there are no quantitative reports of kinematic gait parameters obtained during treadmill walking. The purpose of this research was to characterize the kinematic patterns of the lower limbs during treadmill walking as speed was slowly increased. Methods Seventeen independently ambulatory females diagnosed with a methyl-CpG-binding protein 2 gene mutation walked on a motorized treadmill while joint kinematics were obtained by a camera-based motion capture system and analysis software. Results Stride times progressively decreased as treadmill speeds increased. There were significant main effects of speed on sagittal knee and hip ranges of motion and hip velocity. There were large joint asymmetries and variance values relative to other ambulatory patient populations, although variance values decreased as walking speed increased. Conclusions The results indicate that individuals with Rett syndrome can adapt their kinematic gait patterns in response to increasing treadmill speed, but only within a narrow range of speeds. We suggest that treadmill training for ambulatory individuals with Rett syndrome may promote improved walking kinematics and possibly provide overall health benefits. Implications for rehabilitation Walking is an activity that can counter the negative impacts of the sedentary lifestyle of many individuals with disabilities, including those individuals with Rett syndrome. Documentation of the lower limb kinematic patterns displayed during walking by ambulatory females with Rett syndrome can be used by clinicians to evaluate their patients’ gait performance in response to therapeutic and pharmacological interventions designed to promote walking. The ability to adapt to increases in treadmill speed suggests that a training program of treadmill walking may be effective in promoting improved gait performance in individuals with Rett syndrome.
Highlights
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) result in the neurodevelopmental disorder Rett Syndrome (RTT)
Our subjects were able to adapt to the increasing treadmill speeds, that ability was limited to a narrow range of speeds
We provide the first laboratory-based information regarding kinematic gait data collected from females with RTT
Summary
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) result in the neurodevelopmental disorder Rett Syndrome (RTT). Normal development occurs up to ages 6-18 months at which time a period of regression with loss of verbal skills and social interactions, as well as both fine and gross motor skills sets in. Stereotypical hand movement, breathing difficulties, apraxia, ataxia, muscle hypertonia, limb rigidity and bruxism are some of the disabling symptoms commonly observed. A period of stabilization ensues, but bipedal postural control and walking are severely compromised and walking ability often declines further at later ages, such that less than half remain able to walk. Loss of ambulatory skills results in a number of additional physical problems such as muscle atrophy, limb contractures, decreased cardio-respiratory fitness and low overall physical fitness
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