Kvaliteta života djece s Prader-Willi sindromom i njihovih obitelji

master's thesis

• Title (english): Quality of Life of Children with Prader-Willi Syndrome and Their Families
• Author: Nika Kranjc
• Mentor: Renata Pinjatela (mentor)
• Committee member: Renata Pinjatela (predsjednik povjerenstva)
• Committee member: Renata Martinec (član povjerenstva)
• Committee member: Damir Miholić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Education and Rehabilitation Sciences; Zagreb
• Defense date and country: 2025-03-18, Croatia
• Scientific / art field, discipline and subdiscipline: SOCIAL SCIENCES; Education/Rehabilitation Sciences

Abstract

Sindrom Prader-Willi (PWS) je kompleksan neurološki razvojni sindrom koji utječe na sva razvojna područja, uzrokujući neurološke, kognitivne, endokrine i ponašajne poremećaje.
Primarne teškoće u ranom motoričkom razvoju obuhvaćaju infantilnu letargiju te hipotoniju, koja započinje već u prenatalnom razdoblju. Karakteristična značajka PWS-a, koja je rijetka među neurološkim poremećajima, je značajna promjena u prehrambenom ponašanju tijekom vremena. Hipotonija uzrokuje poteškoće s hranjenjem već kod novorođenčadi, dok se tijekom djetinjstva razvija neregulirana želja za hranom (hiperfagija), što može rezultirati ekstremnom pretilošću. Cilj ovog preglednog rada je opisati Prader-Willi sindrom kroz analizu relevantne literature na području dijagonstičkih metoda, kliničke slike, medicinskih te edukacijsko-rehabilitacijskih intervencija. Pružiti holistički pregled utjecaja Prader-Willi sindroma na kvalitetu života pojedinca te njegove obitelji, istražujući aspekte poput aktivnosti slobodnog vremena, obrazovanja, kvalitete socijalnih odnosa te društvene percepcije, u svrhu boljeg razumijevanja kompleksnosti ovog sindroma.

Abstract (english)

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that affects all areas of development, causing neurological, cognitive, endocrine, and behavioral impairments.
Primary difficulties in early motor development include infantile lethargy and hypotonia, which begin as early as the prenatal period. A distinctive feature of PWS, rare among neurological disorders, is a significant change in eating behavior over time. Hypotonia leads to feeding difficulties in infancy, while in childhood, an unregulated desire for food (hyperphagia) develops, which can result in extreme obesity.
The aim of this review is to describe Prader-Willi syndrome through an analysis of relevant literature in the fields of diagnostic methods, clinical presentation, medical, and educational-rehabilitation interventions.
It seeks to provide a holistic overview of the impact of Prader-Willi syndrome on the quality of life of individuals and their families by exploring aspects such as leisure activities, education, quality of social relationships, and societal perception, with the goal of better understanding the complexity of this syndrome.

• Keywords: Prader-Willi sindrom; kvaliteta života; edukacijsko-rehabilitacijski pristup; multidisciplinarni tim; individualni pristup
• Keywords (english): Prader-Willi syndrome; quality of life; educational-rehabilitation approach; multidisciplinary team; individualized approach
• Language: croatian
• URN:NBN: urn:nbn:hr:158:794754
• Study programme: Title: University graduate study of Educational Rehabilitation; Study programme type: university; Study level: graduate; Academic / professional title: sveučilišni magistar/magistra edukacijske rehabilitacije (sveučilišni magistar/magistra edukacijske rehabilitacije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2025-03-28 12:04:37