Ocenjevanje funkcijskih sposobnosti odraslih bolnikov s spinalno mišično atrofijo ob zdravljenju z nusinersenom : magistrsko delo

Pukšič, Pija (author), Leonardis, Lea (mentor), Jakovljević, Miroljub (reviewer)

Uvod: Spinalna mišična atrofija je skupina genetskih bolezni, katerim je skupna degeneracija celic motoričnih nevronov v sprednjem rogu hrbtenjače, posledica česar je postopno propadanje motoričnih nevronov in zatem še mišičnih vlaken, ki jih te celice oživčujejo. Z razvojem zdravila nusinersen se je za bolnike s spinalno mišično atrofijo pojavila tudi potreba po spremljanju zdravljenja bolnikov s to boleznijo. Glede na priporočila se bolnike s spinalno mišično atrofijo testira vsakih šest mesecev, kjer se oceni motorična funkcija s primerno funkcijsko lestvico. Namen: Namen magistrskega dela je bil prevesti Popravljeno Hammersmithovo lestvico motoričnih funkcij in Popravljeno ocenjevalno lestvico za zgornje ude v slovenski jezik ter proučiti merske lastnosti prevodov. Preveriti smo želeli zanesljivost znotraj ocenjevalca, zanesljivost med ocenjevalci ter konvergentno veljavnost slovenskih prevodov pri ocenjevanju odraslih bolnikov s spinalno mišično atrofijo. Poleg tega so nas zanimali še učinki zdravljenja bolnikov s spinalno mišično atrofijo z zdravilom nusinersen. Metode dela: V raziskavo smo vključili 33 bolnikov. V del raziskave za ugotavljanje zanesljivosti posameznega ocenjevalca in med ocenjavalci smo vključili bolnike s spinalno mišično atrofijo, ki se zdravijo z zdravilom nusinersen in so privolili v snemanje. Podatke teh in vseh preostalih bolnikov pa smo uporabili za ugotavljanje veljavnosti slovenskega prevoda lestvic. Učinke zdravljenja smo spremljali s 6-minutnim testom hoje, s Popravljeno Hammersmithovo lestvico motoričnih funkcij, Popravljeno ocenjevalno lestvico za zgornje ude ter s testi pljučnih funkcij po pol leta, po enem letu in po letu in pol od pričetka zdravljenja. Rezultati: Zanesljivosti slovenskega prevoda Popravljene ocenjevalne lestvice za zgornje ude znotraj ocenjevalca je bila odlična (ICC = 0,996). Zanesljivost slovenskega prevoda Popravljene ocenjevalne lestvice za zgornje ude med ocenjevalci je bila na dan 0 (ICC = 1) in po sedmih dneh (ICC = 0,996) odlična. Povezanost med izidi Popravljene Hammersmithove lestvice motoričnih funkcij in Popravljene ocenjevalne lestvice za zgornje ude je bila po 6. mesecih zdravljenja odlična (r = 0,855), prav tako je bila odlična po 18. mesecih zdravljenja (r = 0,888). Povezanost Popravljene ocenjevalne lestvice za zgornje ude s 6 – minutnim testom hoje je bila po 6. mesecih zdravljenja nizka (r = 0,41), po 18. mesecih zdravljenja pa je bila povezanost še slabša (r = 0,35). Zanesljivost slovenskega prevoda Popravljene Hammersmithove lestvice motoričnih funkcij znotraj ocenjevalca je bila odlična (ICC = 1). Zanesljivost slovenskega prevoda Popravljene Hammersmithove lestvice motoričnih funkcij med ocenjevalci je bila na dan 0 (ICC = 0,999) in po sedmih dneh odlična (ICC = 0,999). Povezanost 6 – minutnega testa hoje s Popravljeno Hammersmithovo lestvico motoričnih funkcij je bila pred zdravljenjem nizka (r = 0,49) ter po 18. mesecih zdravljenja zmerna (r = 0,71). Po letu in pol zdravljenja odraslih bolnikov s spinalno mišično atrofijo sta se statistično značilno izboljšali le vrednosti maksimalnega ekspiratornega tlaka in inspiratornega tlaka pri vdihu skozi nos. Zaključek: Slovenska prevoda Popravljene Hammersmithove lestvice motoričnih funkcij in Popravljene ocenjevalne lestvice za zgornje ude sta zanesljiva, njuna veljavnost pa je nizka do odlična. Kljub temu, da nismo ugotovili izboljšanja funkcijskih zmožnosti odraslih bolnikov s spinalno mišično atrofijo, v povprečju nismo opažali poslabšanja, kar je za bolnike glede na progresivni potek bolezni spodbudno.

• Language: Slovenian
• Keywords: magistrska dela, fizioterapija, spinalna mišična atrofija, nusinersen, funkcijske sposobnosti, merske lastnosti
• Work type: Master's thesis/paper
• Organization: ZF - Faculty of Health Sciences
• Place of publishing: Ljubljana
• Publisher: [P. Pukšič]
• Year: 2023
• Number of pages: 56, [11] str., [37] str. pril.
• PID: 20.500.12556/RUL-148139
• COBISS.SI-ID: 157731587
• Publication date in RUL: 27.07.2023

Secondary language

• Language: English
• Title: Assessing functional abilities of adult patients with spinal muscular atrophy during treatment with nusinersen : master thesis

Abstract

Introduction: Spinal muscular atrophy is a severe neuromuscular disorder characterized by degeneration of anterior motor neurons, resulting in progressive muscle weakness and paralysis. The development of nusinersen for patients with spinal muscular atrophy has led to a need for treatment monitoring. The current standard of care recommends motor function assessment every six months using an appropriate functional scale. Purpose: The purpose of this master's thesis is to translate the Revised Hammersmith Motor Scale) and the Revised Upper Limb Module into the Slovenian language and assess the psychometric properties of the translations. Intra-rater reliability, inter-rater reliability, and convergent validity of the Slovenian translations for assessing adult patients with spinal muscular atrophy has were studied. Additionally, the effects of nusinersen treatment on patients with spinal muscular atrophy were investigated. Methods: A total of 33 patients with spinal muscular atrophy has treated with nusinersen participated in this study. Inter-rater and intra-rater reliability were assessed for the Slovenian translations of Revised Hammersmith Motor Scale and Revised Upper Limb Module, and data from all patients were used to determine the validity of the translations. Treatment effects were monitored using a 6-minute walk test, Revised Hammersmith Motor Scale, Revised Upper Limb Module, and lung function tests at six months, one year, and one and a half years after the start of treatment. Results: The intra-rater reliability of the Slovenian translation of Revised Upper Limb Module was found to be excellent (ICC = 0,996). The inter-rater reliability of the Slovenian translation of Revised Upper Limb Module was excellent on day 0 (ICC = 1) and after seven days (ICC = 0,996). The correlation between the results of Revised Hammersmith Motor Scale and Revised Upper Limb Module was very strong after 6 months of treatment (r = 0,855), as well as after 18 months of treatment (r = 0,888). The correlation between Revised Upper Limb Module and 6-minute walk test was weak after 6 months of treatment (r = 0,41) and after 18 months of treatment (r = 0,35). The intra-rater reliability of the Slovenian translation of RHS was excellent (ICC = 1), and the inter-rater reliability was excellent on day 0 (ICC = 0,999) and after seven days (ICC = 0,999). The correlation between 6-minute walk test and Revised Hammersmith Motor Scale was weak before treatment (r = 0,49) and moderate after 18 months of treatment (r = 0,71). After one and a half years of treatment in adult patients with spinal muscular atrophy has, statistically significant improvements were observed only in the maximum expiratory pressure and sniff nasal inspiratory pressure lung function values. Conclusion: The Slovenian translations of the Revised Hammersmith Functional Motor Scale and the Revised Upper Limb Module are reliable, and their validity ranges from weak to excellent. Despite not finding improvement in the functional abilities of adult patients with spinal muscular atrophy, on average, we did not observe deterioration, which is encouraging for patients considering the progressive nature of the disease.

• Keywords: master's theses, physiotherapy, spinal muscular atrophy, nusinersen, functional abilities, psychometric properties