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Uvod: Z napredovanjem srčnega popuščanja se povečujeta utrujenost in zadihanost. Zaradi strukturnih ali funkcionalnih nepravilnosti delovanja srca se poveča delovanje različnih hormonov in simpatičnega živčevja. Zmanjšana telesna dejavnost povzroča izgubo mišične mase, pojavijo se motnje ravnotežja in težave pri hoji. Za oceno premičnosti od akutne do rehabilitacijske bolnišnične obravnave odraslih na nizki in osnovni ravni funkcioniranja se že uporabljata indeks premičnosti de Morton (DEMMI) in 2-minutni test hoje (2MWT). Namen: Proučiti izvedljivost DEMMI in 2MWT pri pacientih s srčnim popuščanjem na oddelku intenzivne nege, ugotoviti njun učinek tal, povezanost z Indeksom Barthlove (BI) in šestminutnim testom hoje (6MWT) ter odzivnost. Metode dela: V raziskavi je sodelovalo 35 preiskovancev s srčnim popuščanjem (starih 47 – 93 let), ki so bili v šestih mesecih obravnavani na oddelku intenzivne nege. Pred prvo fizioterapevtsko obravnavo in pred odpustom z oddelka intenzivne nege smo jih ocenili z DEMMI in BI ter, če so bili sposobni vsaj hoje z občasnim lahnim dotikom, še z 2MWT in 6MWT, ki smo ju izvajali hkrati. Rezultati: V povprečju so imeli 6,6 ± 2,9 fizioterapevtskih obravnav. Izidi vseh testov so se ob odpustu izboljšali: DEMMI iz 57,5 na 65,4 točk (p < 0,01) BI iz 12,4 na 15,6 točk (p < 0,01), 2MWT iz 61,2 na 76,1 m (p < 0,01), 6MWT iz 148,8 na 196,3 m (p < 0,01). Pri DEMMI in 2MWT nismo ugotovili učinka tal 0 %. Povezanost DEMMI z BI je bila odlična oziroma zelo visoka (ocenjevanje 1: r = 0,89 ocenjevanje 2: r = 0,80), s 2MWT visoka oziroma zelo visoka (ocenjevanje 1: r = 0,71, ocenjevanje 2: r = 0,83), s 6MWT visoka oziroma zelo visoka (ocenjevanje 1: r = 0,74, ocenjevanje 2: r = 0,85). Povezanost 6MWT z 2MWT zelo visoka (ocenjevanje 1: r = 0,81, ocenjevanje 2: r = 0,85). Velikost učinka vseh testov je bila nizka (DEMMI: ES = 0,45 2MWT: ES = 0,48 6MWT: ES = 0,43), za BI pa zmerna (ES = 0,65). Med ocenjevanji nismo zabeležili neželenih dogodkov. Zaključek: DEMMI in 2MWT sta izvedljivi merilni orodji pri pacientih s srčnim popuščanjem na oddelku intenzivne nege. Nimata učinka tal in imata visoko sočasno veljavnost z BI ter 6MWT ter nizko odzivnost. DEMMI priporočamo za uporabo v klinični praksi pri pacientih s srčnim popuščanjem, 6MWT pa bi lahko nadomestili z 2MWT. Introduction: As heart failure progresses, shortness of breath and fatigue increase. Due to structural and functional irregularities in heart functions, the activities of different hormones and sympathetic nervous system increase. The reduction of physical activity results in the loss of muscle mass, balance disturbances and difficulties in walking. To evaluate the mobility in adults on the low and basic level of functioning, from the acute phase to the clinical rehabilitation treatments, we currently use the de Morton mobility index – DEMMI and the two-minute walk test – 2MWT. Purpose: To validate the feasibility of the DEMMI and the 2MWT in patients with heart failure in the intensive care unit, and to evaluate the effects of the floor effect, their validity with the Barthel Index – BI and the six-minute walk test – 6MWT, and responsiveness. Methods: The research, which lasted six months, was performed on 35 patients, aged 47 – 93, with heart failure, who were treated in the intensive care unit. They were assessed with the DEMMI and the BI before their first physiotherapeutic treatment and when they were discharged from the intensive care. In case they were able to walk, even when they could only occasionally briefly touch the floor, we assessed them also with the 2MWT and the 6MWT, which were carried out simultaneously. Results: On average, the patients had 6.6 ± 2.9 physiotherapeutic treatments. The results of all tests improved when the patients were discharged: the DEMMI changed from 57.5 to 65.4 points (p < 0.01), the BI from 12.4 to 15.6 points (p < 0.01), the 2MWT from 61.2 to 76.1 m (p < 0.01), and the 6MWT from 148.8 to 196.3 m (p < 0.01). When testing with the DEMMI and the 2MWT there was no floor effect detected (0%). The convergent validity between the DEMMI and the BI was excellent or very high (assessment 1: r = 0.89), (assessment 2: r = 0.80), the convergent validity with the 2MWT was high or very high (assessment 1: r = 0.71), (assessment 2: r = 0.83), with the 6MWT was high or very high (assessment 1: r = 0.74), (assessment 2: r = 0.85). The convergent validity between the 6MWT and 2MWT was very high (assessment 1: r = 0.81), (assessment 2: r = 0.85). The size of all effects was rather low. Conclusion: The DEMMI in the 2MWT are applicable measuring devices to be used in intensive care unit in patients with heart failure. Both have no floor effect, have equal convergent validity as the BI and the 6MWT, and low responsiveness. Therefore, we recommend the DEMMI to be used in clinical practice in patients with heart failure, while the 6MWT should be replaced with the 2MWT.

Uvod: Spinalna mišična atrofija (SMA) je najpogostejša bolezen spodnjega motoričnega nevrona, ki se pojavi pri 1/6-10,000 rojstev. Kaže se kot mišična atrofija in šibkost. SMA je avtosomna recesivna bolezen, do katere najpogosteje prihaja zaradi izgube 7. in 8. eksona gena Survival Motor Neuron 1 (SMN1). Obstaja pet podtipov s SMN1 povezane SMA, pri katerih se tip 0 razvije pred rojstvom, tipi 1, 2 in 3 se kažejo v otroštvu, tip 4 pa v odrasli dobi. Namen: Z diplomsko nalogo smo želeli ugotoviti, ali je motorična funkcija odraslih bolnikov SMA ocenjena z razširjeno Hammersmithsko lestvico motoričnih funkcij (ang. Hammersmith functional motor scale expanded, HFMSE) povezana z mišično jakostjo stiska in prijemom ključa ter s šest-minutnim testom hoje. Metode: V raziskavi je sodelovalo 31 odraslih bolnikov z genetsko potrjeno diagnozo SMA, ki jih vodijo na Kliničnem inštitutu za klinično nevrofiziologijo, UKC Ljubljana Testirali smo jih z lestvico HFMSE, jakostjo prijema roke in prijema ključa ter s šest-minutnim testom hoje. Za statistično obdelavo podatkov smo izračunali korelacijo po Spearmanu. Rezultati: Večje število točk na lestvici HFMSE in večja jakost prijema desne ter leve roke sta bila statistično pomembno povezana (desna roka r = 0,85, p < 0,0001 leva roka r = 0,82, p < 0,0001), statistično pomembno povezana sta bila tudi večje število točk na lestvici HFMSE in večja jakost prijema ključa desne in leve roke (desna roka r = 0,78, p < 0,0001 leva roka r = 0,89, p < 0,0001). Pozitivna korelacija obstaja tudi med lestvico HFMSE in šest- minutnim testom hoje (r = 0,80, p < 0,0001). Razprava in zaključek: Izsledki naše raziskave kažejo, da je motorična funkcija odraslih bolnikov s SMA ocenjena z lestvico HFMSE povezana z mišično silo prijema roke in prijema ključa med palcem in kazalcem ter šest-minutnim testom hoje. Dobljeni rezultati bodo lahko v pomoč raziskovalcem, ki bodo te bolnike testirali v prihodnje in tako spremljali napredovanje bolezni ali učinek zdravil, ter so pokazatelj trenutnega stanja motorike posameznega bolnika. Za nadaljnje raziskave predlagamo uporabo natančnejših (digitalnih) dinamometrov ter da se bolnike pred začetkom testiranja loči glede na tip SMA bolezni. Introduction: The Spinal muscular atrophy (SMA) is the most common disease of the lower motor neuron, which appears in the 1/6-10,000 births. It manifests as muscle atrophy and weakness. SMA is an autosomal recessive disease that is most commonly caused by a deletion of 7th and 8th exons of the gene Survival Motor Neuron 1 (SMN1). There are five subtypes of the SMN1 related SMA: type 0 develops before birth, types 1, 2, and 3 from a young age and the type 4 in adulthood. Purpose: The purpose of this diploma work was to assess whether the motor function in adult SMA patients, measured by the Hammersmith functional motor scale expanded (HFMSE) is associated with the muscular strength of the hand grip, the key grip and the 6-minute walk test. Methods: The study sample was comprised of 31 adult patients with a genetically confirmed diagnosis of SMA, who are followed in the Institute of clinical neurophysiology, UKC Ljubljana. They were tested with the HFMSE, hand held dynamometry test and the 6-minute walk test. For the statistical analysis of the data, we used Spearman correlation test. Results: There is statistically significant correlation between higher score on the HFMSE and the greater hand grip strength in the right and the left hand (right hand r = 0,85, p < 0,0001 left hand r = 0,82, p < 0,0001). Furthermore, there is also statistically significant correlation between higher score on the HFMSE and the greater key grip strength in the right-hand and left hand (right hand r = 0,78, p < 0,0001 left hand r = 0,89, p < 0,0001). There is also a positive correlation between the HFMSE, and the 6-minute walk test (r = 0,80 p < 0,0001). Discussion and conclusion: Results of our study show that motor function of adult SMA patients, measured by the HFMSE correlates with the muscular strength of the hand grip, the key grip between the thumb and the index finger, and the 6-minute walk test. The obtained results will be helpful to the researchers who will be monitoring the patients and the progression of the disease or the effectiveness of drugs, while being indicators of the current motor state of the patient. For future research, we suggest using more precise (digital) dynamometers tests and the separation of the SMA patients, based on the SMA type.