Abstract

BackgroundPrader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies.Methods19 PWS patients (17.7-40 yr) and 21 DS patients (18-39 yr) were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr).Results and DiscussionThe results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p < 0.05) in all joints than CG and PWS. As for ankle kinetics, both PWS and DS showed a significantly lower push-off during terminal stance than CG, with DS yielding the lowest values. Stiffness at hip and ankle level was increased in DS. PWS showed hip stiffness values close to normal. At ankle level, stiffness was significantly decreased in both groups.ConclusionsOur data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

Highlights

  • Prader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features

  • Our data show that DS walk with a less physiological gait pattern than PWS

  • In order to take in account the variability in height and weight between pathological groups and CG, stride length was normalised to the subject's height and kinetic data were normalised to the subject's weight

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Summary

Introduction

Prader-Willi (PWS) and Down Syndrome (DS) are two genetic disorders characterised by some common clinical and functional features. Prader-Willi (PWS) and Down Syndrome (DS) are two different chromosomal disorders characterised by some common clinical features, such as obesity, muscular hypotonia, ligament laxity and mental retardation. The genetic basis is the absent expression of the paternally active genes in the PWS critical region on chromosome 15 [1]. It is characterized by muscular hypotonia, ligament laxity, hyperphagia, severe obesity, short stature, hypogonadism, mental retardation and dysmorphic features. To PWS, the DS-related obesity may contribute to the reduced motor skills observed in this population [6,7]

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