Quality of life of people with the Usher syndrome

Usherjev sindrom je redka genetska bolezen in najpogostejši sindrom, ki povzroči sočasno okvaro vida in sluha (v določenih primerih tudi ravnotežja), ter je širši javnosti kot tudi na področju specialne in rehabilitacijske pedagogike nepoznan. Čeprav gre za osebe z gluhoslepoto, osebe z Usherjevim sindromom predstavljajo le delež oseb z gluhoslepoto, ki so zaradi specifičnih značilnosti sindroma postavljene pred nekoliko drugačne izzive v življenju, zato pogosto ostanejo brez ustrezne podpore in pomoči. V magistrskem delu smo se osredotočili na problematiko kvalitete življenja oseb z Usherjevim sindromom, ki ji do sedaj v slovenskem prostoru še ni bilo namenjene velike pozornosti. V teoretičnem delu je opisan pojem gluhoslepota, predstavljene so značilnosti Usherjevega sindroma ter dimenzije kvalitete življenja. Kvaliteto življenja oseb z Usherjevim sindromom smo raziskovali z vprašalnikom in polstrukturiranim intervjujem, ki smo ga izvedli osebno ali pa so ga udeleženci raziskave izpolnili sami oziroma s pomočjo tretje osebe. V empiričnem delu je bil uporabljen mešan raziskovalni pristop. Cilj magistrskega dela je bil opisati Usherjev sindrom ter definirati nove oblike pomoči, ki izhajajo iz dejanskih potreb oseb z Usherjevim sindromom. V raziskavo je bilo zajetih šest odraslih oseb z Usherjevim sindromom, ki imajo potrjeno diagnozo sindroma. Poleg uvida v funkcioniranje oseb z Usherjevim sindromom smo ugotovili, kakšni trendi se (zaradi majhnosti vzorca) nakazujejo v Sloveniji na področju kvalitete življenja oseb, zajetih v raziskavo. Ugotovili smo, da se na področju zdravja in počutja pri udeležencih raziskave nakazuje trend pojavljanja depresije, na področju ekonomskega statusa se pojavlja trend brezposelnosti, na področju mobilnosti se pojavlja trend znižane stopnje mobilnosti ter pomanjkanje strokovne podpore. Rezultati raziskave podajajo pomemben prispevek k nadaljnjim raziskavam na področju kvalitete življenja oseb z gluhoslepoto in Usherjevim sindromom.Usher syndrome is a rare genetic disease and the most common syndrome that causes a simultaneous vision and hearing impairment (in certain cases also balance disorder). It is also unknown to the general public and professionals in the field of special and rehabilitation pedagogy. Although we talk about people with deafblindness, people affected by Usher syndrome represent only a small portion of people suffering from deafblindness who face rather different challenges in their lives due to the specific characteristics of the syndrome. In this master\u27s thesis we focused on the issue of quality of life of people with Usher syndrome who have not been given a lot of attention in Slovenia so far. The theoretical part describes deafblindness, the characteristics of the Usher syndrome, and precise dimensions of quality of life. We studied the quality of life of people with Usher syndrome using a questionnaire and a semi-structured interview which was conducted by us personally or the research participants did it themselves or with the assistance of a third person. A mixed research approach was used in the empirical part. The goal of the master\u27s thesis was to describe Usher syndrome and to define new forms of help that derive from the actual needs of people suffering from Usher syndrome. The study included six adults with Usher syndrome who had a confirmed diagnosis of the syndrome. In addition to the insight into the functioning of the persons involved in the study, we learned which trends (due to the small sample size) are developing in Slovenia in the area of quality of life of the research participants. We discovered that in the field of health and well-being the participants in the research indicated a trend towards depression, in the area of economic status there was a trend towards unemployment, in the field of mobility there was a trend towards reduced mobility rate and a lack of professional support. The research results make an important contribution to further studies in the area of quality of life of people with deafblindness and Usher syndrome