À la suite d’une lésion du système nerveux central tel qu’un accident vasculaire cérébral ou une lésion médullaire incomplète un ensemble de symptômes tel que la parésie, l’hyperactivité musculaire et l’hypo-extensibilité des tissus vont perturber l’organisation locomotrice du patient. Depuis quelques années, l’utilisation de méthodes mathématiques permet d’extraire à partir de l’activité électrique des muscles la commande à l’organisation locomotrice du sujet. L’objectif de ce travail de thèse est d’utiliser ces méthodes pour caractériser les spécificités du patient hémiparétique et paraparétique. Une première étude sur le sujet asymptomatique a permis de valider notre méthodologie..La deuxième étude portant sur les patients paraparétiques montre que l’asymétrie de marche est plutôt expliquée par une expression différente des symptômes plutôt qu’une réelle asymétrie provenant de la commande. Pour conclure, la troisième étude portant sur l’effet d’une anesthésie d’un muscle chez le patient hémiparétique a montré que le cerveau était en mesure de modifier la commande locomotrice pour pallier les perturbations induites par cette anesthésie. En conclusion nos travaux soulignent l’intérêt de ces méthodes comme un outil pertinent dans l’évaluation de l’organisation locomotrice chez le patient présentant une lésion du système nerveux central. / Following a central nervous system injury such as a stroke or incomplete spinal cord injury, a set of symptoms such as paresis, muscle hyperactivity and hypo-extensibility will disrupt the patient’s locomotor organization. In recent years, the use of mathematical methods has made it possible to extract, from the electrical muscle activities, the command of the locomotor organization. This thesis aimed at using these methods to characterize the specificities of the post-stroke patient and the patient with incomplete spinal cord injury. The first study of healthy individuals allowed to validate our methodology.The second study in patients with incomplete spinal cord injury showed that gait asymmetry may be explained by a different expression of symptoms rather than a real asymmetry originating from the control. Finally, the third study has investigated the effect of muscle anesthesia on the post-stroke patient. The results showed that the central nervous system was able to adapt locomotor control to compensate for the disturbances induced by this anesthesia. In conclusion, our work underlines the interest of these methods as a relevant tool in the evaluation of locomotor organization in patients with central nervous system lesions.

Title: Starts of sprint disciplines performed by spastic athlete and particularities of the training process Aim of work: The aim of this work was analyzing of the specifics of athletic training determined for spastic sprinter class T38 and observation of the long term effect. Methods: This work presents an empiric-theoretical study. Due to the uniqueness of the theme, method of case study has been chosen (intra-individual observation). This method was applied on the particular spastic sprinter by using longitudinal quantitative observation during her top sport career and applying one-off analysis focused on evaluation of different types of starts. This observation had qualitative and quantitative part. The quantitative part was based on the interpretation of 2D video comparing three types of start (low start, mid-low start and low start with a diagonal arm position) with the optimal start position described in the books. Comparison of average time for 10 metre distance was determined as quantitative element. . The observational group consists of the sprinter with Cerebral Palsy at Czech representative level. Results: Our research resulted as follows: The mid-low start was assessed as the best one for the examined sprinter from the quality of start position point of view including the three...

Hipotherapy is a complex therapy, broaden and recently very sought after rehabilitation method, which is being more and more recognized by experts for its broaden scene. It is a complex therapy thanks to involving medicine, psychology, pedagogy and also a social sphere. That's why is this method indicated at many different levels of disablement. It's being used with pacients with children's cerebral palsy, diverse level of cerebral dysfunction and multiple sclerosis. And it's the therapy's effect on multiple sclerosis that this thesis paper discusses. It also applies to brain and spinal traumas, scoliosis, back pain, orthopedic defects, cardiovascular disease, degenerative muscle disease, obesity, as well as it provides help at emotional and mental aspect, e.g. children with behavioral disorders and many others. At hipotherapy is being used a three dimensional (multidimensional) horse motion. Horse's spine moves up - down, forward - backward, right - left. Imitating a mechanisms of human walking, which leads to relaxation of spasticity. Impulses are transmitted onto back which brings interaction of impeller and back muscles, stand up pose, and posture interference. All this brings a walking improvements, movements coordination, balance and consolidation of a flabby muscles. Each horse has a different nature...

Hipotherapy is a complex therapy, broaden and recently very sought after rehabilitation method, which is being more and more recognized by experts for its broaden scene. It is a complex therapy thanks to involving medicine, psychology, pedagogy and also a social sphere. That's why is this method indicated at many different levels of disablement. It's being used with pacients with children's cerebral palsy, diverse level of cerebral dysfunction and multiple sclerosis. And it's the therapy's effect on multiple sclerosis that this thesis paper discusses. It also applies to brain and spinal traumas, scoliosis, back pain, orthopedic defects, cardiovascular disease, degenerative muscle disease, obesity, as well as it provides help at emotional and mental aspect, e.g. children with behavioral disorders and many others. At hipotherapy is being used a three dimensional (multidimensional) horse motion. Horse's spine moves up - down, forward - backward, right - left. Imitating a mechanisms of human walking, which leads to relaxation of spasticity. Impulses are transmitted onto back which brings interaction of impeller and back muscles, stand up pose, and posture interference. All this brings a walking improvements, movements coordination, balance and consolidation of a flabby muscles. Each horse has a different nature...

Background: Evidence-based complementary treatment options for multiple sclerosis (MS) are limited. Objective: To investigate the effect of hippotherapy plus standard care versus standard care alone in MS patients. Methods: A total of 70 adults with MS were recruited in five German centers and randomly allocated to the intervention group (12 weeks of hippotherapy) or the control group. Primary outcome was the change in the Berg Balance Scale (BBS) after 12 weeks, and further outcome measures included fatigue, pain, quality of life, and spasticity. Results: Covariance analysis of the primary endpoint resulted in a mean difference in BBS change of 2.33 (95% confidence interval (CI): 0.03–4.63, p = 0.047) between intervention (n = 32) and control (n = 38) groups. Benefit on BBS was largest for the subgroup with an Expanded Disability Status Scale (EDSS) ⩾ 5 (5.1, p = 0.001). Fatigue (−6.8, p = 0.02) and spasticity (−0.9, p = 0.03) improved in the intervention group. The mean difference in change between groups was 12.0 (p < 0.001) in physical health score and 14.4 (p < 0.001) in mental health score of Multiple Sclerosis Quality of Life-54 (MSQoL-54). Conclusion: Hippotherapy plus standard care, while below the threshold of a minimal clinically important difference, significantly improved balance and also fatigue, spasticity, and quality of life in MS patients.

Title: Starts of sprint disciplines performed by spastic athlete and particularities of the training process Aim of work: The aim of this work was analyzing of the specifics of athletic training determined for spastic sprinter class T38 and observation of the long term effect. Methods: This work presents an empiric-theoretical study. Due to the uniqueness of the theme, method of case study has been chosen (intra-individual observation). This method was applied on the particular spastic sprinter by using longitudinal quantitative observation during her top sport career and applying one-off analysis focused on evaluation of different types of starts. This observation had qualitative and quantitative part. The quantitative part was based on the interpretation of 2D video comparing three types of start (low start, mid-low start and low start with a diagonal arm position) with the optimal start position described in the books. Comparison of average time for 10 metre distance was determined as quantitative element. . The observational group consists of the sprinter with Cerebral Palsy at Czech representative level. Results: Our research resulted as follows: The mid-low start was assessed as the best one for the examined sprinter from the quality of start position point of view including the three...

Résumé : Introduction : L’ataxie récessive spastique de Charlevoix-Saguenay (ARSCS) est une maladie héréditaire dégénérative présentant un taux élevé de porteurs (1/22) au Saguenay-Lac-Saint-Jean, mais aussi retrouvée à l’échelle mondiale. Les personnes atteintes présentent des atteintes cérébelleuses (ataxie), neuropathiques (amyotrophie) et pyramidales (spasticité). L’ARSCS présente un portrait différent des autres types d’ataxies et il n’existe pas d’échelle de gravité spécifique pour évaluer la progression de la maladie ou évaluer l’efficacité d’un traitement. Méthodologie : Les objectifs de ce projet sont de développer et documenter les qualités métrologiques des items de la section pyramidale de l’échelle de gravité de l’ARSCS (Disease Severity Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, DSI-ARSACS). La section pyramidale a été élaborée à l’aide du modèle de développement de Streiner et Norman (2008). La planification et la construction ont été réalisées à l’aide d’une recension systématique des écrits et d’une consultation Delphi. La validité de construit (convergente et discriminatoire) et la fidélité (intraévaluateur et interévaluateurs [n=2]) ont été documentées. Vingt-huit (28) participants âgés de 18 à 59 ans ont été recrutés, selon un échantillonnage stratifié pour l’âge et le sexe. Le diagnostic devait être confirmé génétiquement. La validité convergente a été documentée avec des outils évaluant le contrôle moteur aux membres inférieurs (LEMOCOT), la gravité de la spasticité (SPRS), la mobilité (6MWT, 10mWT, échelle de Berg), le fonctionnement dans les activités quotidiennes (Index de Barthel), la participation sociale (MHAVIE) et la qualité de vie (SF-12v2). La validité discriminatoire a été documentée selon le sexe, le groupe d’âge et le stade de la maladie. La section pyramidale a été administrée à trois reprises par deux physiothérapeutes, à deux semaines d’intervalle, pour évaluer la fidélité intra/interévaluateurs. Résultats : La validité de contenu a été jugée adéquate par les experts du domaine. La validité de construit convergente est soutenue par des corrélations élevées avec les outils mesurant des concepts apparentés (r > 0,7, p = 0,00), à l’exception du SF-12v2 (r = 0,09-0,33). La validité de construit discriminatoire est appuyée par la capacité de distinguer les personnes atteintes en fonction des groupes d’âge et des stades de la maladie. La fidélité intra/interévaluateurs est excellente pour les items individuels (κ[indice inférieur w] = 0,68-0,96/0,60-0,95 sauf pour deux items κ[indice inférieur w] = 0,12 et 0,47) et pour le sous-total pyramidal (CCI = 0,94/0,88, p = 0,000). La cohérence interne (α = 0,85) témoigne de l’homogénéité des items pyramidaux. Conclusion : Le sous-total pyramidal du DSI-ARSACS a démontré une excellente validité de construit convergente et discriminatoire et une bonne fidélité. L’échelle de gravité permettra de mieux documenter l’évolution naturelle de la maladie. / Abstract : Introduction: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary and degenerative illness that has a high carrier rate (1/22) in Saguenay-Lac-St-Jean (Quebec, Canada) but that is also found elsewhere around the world. Individuals with ARSACS have cerebellar impairments (ataxia), neuropathic impairments (amyotrophy) and pyramidal impairments (spasticity). ARSACS does not have the same characteristics as other forms of ataxia and there is currently no specific disease severity index (DSI) for it. Method: This project aimed to develop the items of the pyramidal section of the DSI-ARSACS and document their metrological properties. A literature review was conducted to identify ARSACS’ related impairments and existing scales measuring pyramidal impairments. Both items from known scales and new items were used to build a new scale that would assess the pyramidal impairments associated with ARSACS. The scale’s content validation was based on expert opinion. A consensus on the final scale composition was reached. Two physiotherapists administered the newly developed scale to 28 participants with a genetically confirmed ARSACS diagnosis in order to document the reliability of the pyramidal section of the DSI. Existing scales related to pyramidal impairments, mobility, social participation and quality of life were administered to assess convergent construct validity. The contrasting group method (age group, disease stage, gender) was used to assess discriminant validity. Results: Content validity was considered adequate by an expert panel that completed a Delphi process. The pyramidal section’s subscore was distributed normally and did not show a ceiling/floor effect. Convergent construct validity was supported by strong correlations with existing scales measuring related constructs (r > 0.7, p = 0.00), excluding SF-12 v2 (r = 0.09-0.33). Discriminant construct validity was supported by the scale’s ability to distinguish subjects according to age and disease stage. Intra/inter-rater reliability was excellent for individual items (κ[subscript w] = 0.68-0.96/0.60-0.95), except for two items (κ[subscript w] = 0.12 and 0.47), and also excellent for the section’s subscore (CCI = 0.94/0.88, p = 0.000). Internal consistency (α = 0.85) reflected the homogeneity of the pyramidal items. Conclusion: The pyramidal section’s subscore of DSI-ARSACS displayed excellent metrological properties (discriminative and convergent validity, reliability) during this initial validation. The index will lead to a better understanding of ARSACS’ natural history while also allowing for the categorization of subjects participating in future clinical trials.

Les ataxies héréditaires sont des désordres neuro-dégénératifs qui causent une ataxie comme symptôme primaire; soit une perte de coordination des mouvements volontaires, un sens de l’équilibre déficient et un trouble à la motricité. Elles forment un groupe cliniquement et génétiquement hétérogène. De ce fait, de nombreuses classifications existent basées sur différents critères. Cependant, le consensus actuel veut que le mode de transmission soit le critère premier de classement. On estime la prévalence mondiale des ataxies héréditaires à 6/100 000 bien que ce nombre diffère entre régions. C’est le cas du Québec où la structuration historique du bassin génétique canadien-français a menée à des effets fondateurs régionaux, ce qui a eu comme conséquence de hausser la prévalence régionale de certaines maladies. L’Acadie est également une région canadienne-française avec des effets fondateurs où le taux de prévalence de certaines ataxies héréditaires est plus élevé. Nous avons recruté huit familles canadiennes-françaises provenant de diverses régions du Québec, ayant un lien génétique plus ou moins rapproché avec l’Acadie, dans lesquelles nous avons observé dix cas d’une forme d’ataxie spastique autosomique récessive relativement légère qui a résistée à l’analyse des gènes d’ataxies connues. Nous avons émis l’hypothèse d’être en présence d’une nouvelle forme d’ataxie à effet fondateur pour la population canadienne-française. Afin d’identifier le gène muté responsable de cette ataxie, un criblage génomique des marqueurs SNP pour les individus recrutés fut effectué. Puis, par cartographie de l’homozygotie, une région de 2,5 Mb fut identifiée sur le chromosome 17p13 dans une famille. Une revue de la littérature nous a permis de constater, qu’en 2007, quatre familles nord-africaines atteintes d’une ataxie dénommée SPAX2 qui présentaient des manifestations cliniques semblables avaient déjà été liées au même locus sur le chromosome 17. Afin de supporter notre hypothèse que les malades étaient porteurs de deux copies de la même mutation fondatrice et de cartographier plus finement notre région d’intérêt, les haplotypes de tous les atteints de nos huit familles furent étudiés. Nous avons établie qu’un intervalle de 200 kb (70 SNP), soit du marqueur rs9900036 à rs7222052, était partagé par tous nos participants. Les deux gènes les plus prometteurs des 18 se trouvant dans la région furent séquencés. Aucune mutation ne fut trouvée dans les gènes SLC25A11 et KIF1C. Par la suite, une analyse de liaison génétique stricte avec calcul de LOD score nous a permis d’exclure ce locus de 200 kb comme étant celui porteur du gène muté causant l’ataxie dans la majorité de nos familles. Nous avons donc conclus que malgré qu’une famille soit homozygote pour une grande région du chromosome 17, l’absence d’Informativité des marqueurs SNP dans la région de 200 kb fut responsable de l’apparent partage d’haplotype homozygote. Le travail reste donc entier afin d’identifier les mutations géniques responsables de la présentation ataxique chez nos participants de souche acadienne. / Hereditary ataxias are neurodegenerative disorders which share ataxia as common feature is manifested by a decrease in limb coordination, imbalance and an unsteady gait. They consist in a clinically and genetically heterogeneous group. Many ataxia classifications have been proposed, however, the current consensus is to first characterize them according to their mode of transmission. Hereditary ataxias as a whole have a prevalence of 6/100 000, with variable estimation between country and region. In the Province of Quebec where the French Canadian genetic pool can be seen has a mosaic of regional gene pools there is clear differences in local variation in the prevalence of different ataxias. Acadia is also a French Canadian region with a history of many founder effects and a higher prevalence for certain hereditary ataxias. We recruit 8 French Canadian families from Quebec and with genealogical links with Acadia in which 10 cases manifest a presumably relatively mild autosomal recessive spastic ataxia of unknown etiology. The shared phenotype and Acadian background raised the possibility that they suffered from a new form of ataxia with a founder effect. To identify the mutated gene causing this ataxia, the individuals recruited were genotyped. By homozygosity mapping, a region of 2,5 Mb was identified in one family on chromosome 17p13. A literature review established that in 2007 four North Africans families segregating also a mild spastic ataxia were linked to the same locus on chromosome 17. To support our hypothesis that our patients were carrier of the same founder mutation we look closer at their haplotype in the region. We defined an interval of 200kb (70 SNP) between markers rs9900036 and rs7222052 shared by all affected cases. The two most promising gene in the interval were sequenced. No mutation was found in SLC25A11 and KIF1C. Thereafter a linkage analysis by LOD score excluded the candidate interval of 200 kb in the majority of our families. We conclude that even if in one family exists a large homozygous region on chromosome 17, the lack of informative SNP in the 200 kb region was responsible for the apparent sharing rather than they shared a common mutation. Further work will be necessary to identify the mutate gene causing the ataxia presentation in these cases of mild spastic ataxia.

The aim of the thesis was to assess a construct validity of "Muscle Excitability Scale" in assessment of spasticity in patients with spinal cord injury. The correlation between this scale and other clinical tests evaluating various aspects of spasticity was investigated. 48 participants with symptoms of a spasticity were included in the study. The Spearman rank correlation coefficient was used for quantification of correlation between each two tests. The most significant correlation was found between the Muscle Excitability Scale and the Modified Ashworth Scale (rs=0,26 - 0,35, p<0,05). Less significant correlation was found in comparison with the Clonus Scale (rs=0,27, p<0,05) and with the SCI-SET (rs=0,25 - 0,26, p<0,05). There was no correlation between the Muscle Excitability Scale and the Penn Spasm Frequency Scale. Additionally every test was compared to each other and then the outcomes was discussed and compared to results of other similar studies. Keywords Muscle Excitability Scale, validity, spasticity, spinal cord injury, Modified Ashworth Scale, Penn Spasm Frequency Scale, Clonus Scale, SCI-SET

The aim of this paper was to define interrater reliability of "Muscle excitability scale" in assessment of lower extremities muscle spasticity in patiens with spinal cord injury. Raters were two students of 2nd grade of master study of physiotherapy. Testing was performed at Centrum Paraple o.p.s. and 48 patients took part in the research. Except the Muscle excitability scale, Modified Ashworth scale, Penn spasm frequency scale and Clonus scale were also assessed. Percentage rate of agreement and also value of kappa coefficient that state value of agreement between raters were assigned for each scale. Percent agreement for Muscle excitability scale was 54,2 % for right and 64,6 % for left lower extremity. Kappa coefficient and therefore interrater reliability of this test was assessed on 0,38 on the right side and 0,51 on the left. The results and thein comparison with other used scales are discussed in this thesis.