Elsevier

Research in Developmental Disabilities

Volume 33, Issue 5, September–October 2012, Pages 1437-1442
Research in Developmental Disabilities

Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome

https://doi.org/10.1016/j.ridd.2012.03.016Get rights and content

Abstract

People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to quantify the gait patterns of subjects with EDS and with DS using Gait Analysis (GA). We quantified the gait strategy in 12 EDS individuals and in 16 participants with DS. Both pathological groups were compared to 20 age-matched healthy controls in terms of kinematics and kinetics. Results showed that DS individuals are characterized by a more compromised gait pattern than EDS participants, even if both groups are characterized by joint hypermobility. All the patients showed significant decreased of ankle stiffness probably due to congenital hypotonia and ligament laxity, while different values of hip stiffness. These findings help to elucidate the complex biomechanical changes due to joint hypermobility and may have a major role in the multidimensional evaluation and tailored management of these patients.

Highlights

► Pathological participants pointed out difficulties in gait pattern due to ligament laxity. ► The results could elucidate the complex biomechanical changes due to joint hypermobility. ► Rehabilitation on the reinforcing of muscle tone to supply the ligament laxity.

Introduction

Ehlers-Danlos syndrome (EDS) is a relatively common rheumatologic condition which comprises a clinically variable and genetically heterogeneous group of inherited connective tissue disorders, mainly featuring joint hypermobility, skin hyperextensibility and tissue fragility (Callewaert, Malfait, Loeys, & De Paepe 2008). The various forms of EDS are characterized by abnormalities in the chemical structure of the body's connective tissues (for example, skin, muscles, tendons and ligaments) (Voermans et al., 2009). EDS results in weakness and/or excessive flexibility of the connective tissues of the body: as a result, skin may become fragile and joints unstable. People suffering from EDS type III present a severe ligament laxity that results in difficulties in muscle force transmission, showing muscle hypotonia, and in movement instability.

Recently, Galli et al. (2011) pointed out the typical features of gait pattern in a population with EDS: a non-physiological gait was observed by the authors. In particular, moreover the spatio-temporal parameters, all the differences between physiological and non-physiological gait pattern could be summarized in pathological kinematic and kinetic of the ankle joint, in terms of sustained plantarflexion and lower value of absorbed and generated work. They also investigated ankle and hip stiffness: the results evidenced a stiffness reduction in both joints compared to Control Group. As reported in the literature (Carr, 1970, Ferrell et al., 2004), the key feature of EDS gait is characterized by hypermobility that results in a decrease of joint stiffness and in the lack of a correct force transmission, and consequently in muscle hypotonia: these features, as well documented in literature (Dowdy-Sanders and Wenger, 2006, Dyer et al., 1990, Galli et al., 2008, Morris et al., 1990, Vieregge et al., 1996, Weeks et al., 2000), are similar to the ones that afflict the movements of Down syndrome (DS) people.

Motor disability is widespread among individuals with DS. It includes longer motion and reaction times, balance and postural deficits, and cocontraction of agonist and antagonist muscles (Aruin et al., 1996, Shumway-Cook and Woollacott, 1985). The motor dysfunction in individuals with DS involves impaired muscle control, which is frequently referred to as “clumsiness” by parents and health professionals (Latash & Corcos, 1991) and Carr (1970) referred that the delay in motor development in DS is linked to the generalized muscle hypotonia and ligament laxity that is characteristic of the condition. Galli et al. (2008) documented the gait characteristics of children with DS and quantified the hip and ankle joint stiffness that characterize the gait pattern in individuals with DS: in their work pathological subjects pointed out higher values of hip joint stiffness as compensatory strategies in order to lower the numbers of degrees of freedom, and lower ankle joint stiffness as consequence of joint laxity and muscle hypotonia, which cause functional weakness.

As the common feature that characterized EDS and DS syndrome, ligament laxity and muscle hypotonia, aim of this work is to study the relationship between these and the gait pattern alterations in EDS and DS adult patients in order to characterize from a motor point of view the two syndrome.

Section snippets

Participants

The gait pattern was investigated in a group of 12 participants (EDSG: Ehlers-Danlos Syndrome Group) with a diagnosis of EDS type III (mean age: 43.08 years, sd 6.78; range: 36–59 years) and in a group of 16 participants (DSG: Down Syndrome Group) with Down syndrome (mean age: 35.60 years, sd 4.43; range: 31–45 years): data were collected in the Posture and Motion Analysis Lab of IRCCS “San Raffaele-Pisana”, TOSINVEST Sanità, Rome, Italy. All participants gave their informed consent to

Results

In Table 1 we reported the clinical characteristics of the three groups compared in this work. Age and weight were not statistically different as height was: for this reason stride length was normalized to subject's height.

Concerning the gait parameters an initial comparison between left and right side was performed: no differences were found between the two limbs, so the data were pooled.

In Table 2 we reported the mean values and the standard deviation (in brackets) of spatio-temporal and

Discussion and conclusion

Joint hypermobility is the common feature between Down syndrome and Ehlers-Danlos syndrome: this hypermobility is due to the ligament laxity that characterized both the syndromes. The hypermobility not only determines passive hyperextension of the joints but also has important biomechanical consequences on gait pattern: this consideration emphasizes the importance of a careful and precise evaluation of EDS and DS syndrome, yielding crucial information in establishing the level of disability and

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