Assessment of Quality of Life in Children With Spinal Muscular Atrophy From the Perspective of Parents or Caregivers in Croatia

Uvod: Spinalna mišićna atrofija (SMA) je autosomno recesivna neurodegenerativna bolest, koju karakterizira gubitak funkcije gena SMN1 i smanjena razina SMN proteina. Dijeli se na 5 tipova (0-IV), koji se prezentiraju rasponom kliničke slike od progresivne mišićne slabosti i prerane smrti (tip 0) sve do blagog gubitka motoričkih neurona i normalnog očekivanog životnog vijeka (tip IV). Riječ je o bolesti za koju trenutno ne postoji lijek koji bi omogućio potpuno izlječenje. Cilj: Cilj ovog istraživanja je utvrditi kakva je kvaliteta života djece koja boluju od spinalne mišićne atrofije prema mišljenju njihovih roditelja/skrbnika u Republici Hrvatskoj vezana uz njihov način života i specifične simptome koji se vežu uz njihovu bolest. Metode: Ovaj rad se temelji na obradi podataka o kvaliteti života djece oboljele od spinalne mišićne atrofije koji se provodi ispitivanjem roditelja odnosno skrbnika koristeći upitnik. Upitnik The PedsQL™ 3.0 Neuromuscular Module. Upitnik je na engeskom jeziku radi se o upitniku koji je specificiran za neuromuskularne bolesti, ali su usmena pitanja postavljana na hrvatskom jeziku. Anketa se provodila na odjelu neuropedijatrije Kliničkog bolničkog centra u Zagrebu, te su se podatci prikupljali u razdoblju od studenog 2021. godine do kraja prosinca 2021. godine. Rezultati: U ovom upitniku sudjelovalo je 50 ispitanika, odnosno po jedan roditelj/skrbnik svakog oboljelog djeteta. Rezultati su prikazani u obliku tablica i analizirani deskriptivnom analizom. Rezultati istraživanja su pokazali da problemi koji najviše snižavaju kvalitetu života djece oboljele od spinalne mišićne atrofije su komunikacijski problemi.Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease, characterized by loss of SMN1 gene function and decreased levels of the SMN protein. SMA is divided into 5 types (0-IV), which presents in a wide range of clinical vignettes from progressive muscle weakness and premature death (type 0) to mild loss of motor neurons and normal life expectancy (type IV). It is a disease for which there is currently no cure. Aim: The aim of this study is to determine the quality of life of children suffering from spinal muscular atrophy, according to the opinion of their parents or caregivers in the Republic of Croatia, related to their lifestyle and specific symptoms associated with their disease. Methods: This paper is based on the processing of data on the quality of life of children with spinal muscular atrophy, which wich is conducted by examining parents or guardians using a questionnaire. Questionnaire The PedsQL ™ 3.0 Neuromuscular Module. The questionnaire is in English, it is a questionnaire that is specified for neuromuscular diseases, but oral questions were asked in Croatian. The survey was conducted at the Department of Neuropediatrics at Clinical Hospital Center in Zagreb, and data was collected in the period from November 2021 to the end of December 2021. Results and conclusion: 50 respondents took part in this questionnaire, i.e. one parent/guardian of each sick child. The results are presented in the form of tables and analyzed by descriptive analysis. The research results showed that the problems that most reduce the quality of life of children with spinal muscular atrophy are communication problems