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  • Prader-Willijev sindrom - o...
    Vučinac Zelić, Nevena

    Logopedija, 12/2023, Volume: 13, Issue: 2
    Journal Article

    Prader-Willijev sindrom složeni je genetski poremećaj iz skupine rijetkih bolesti. Nastaje zbog nedostatka izražaja očevih gena na 15. kromosomu. Pojavnost se procjenjuje u omjeru od 1:12.000 do 1:15.000. Javlja se i kod muškaraca i žena u podjednakom broju (International Prader-Willi Syndrome Organisation, 2009). Osobe kod kojih je utvrđen Prader-Willijev sindrom karakterizira neonatalna hipotonija, hiperfagija, prekomjerna tjelesna težina, nepotpun spolni razvoj, usporen rani motorički razvoj, nizak rast, intelektualne teškoće, problemi u ponašanju, teškoće u razvoju jezika i govora. Simptomi i težina Prader-Willijeva sindroma mogu se razlikovati od osobe do osobe. Mnoge značajke poremećaja su nespecifične, a druge se mogu razvijati polako tijekom vremena ili mogu biti neupadljive. Većina provedenih istraživanja usredotočena je na medicinske, genetske i bihevioralne aspekte ovog sindroma, dok su rijetka istraživanja o jezičnim i govornim sposobnostima osoba s Prader-Wilijevim sindromom. Jezične i govorne sposobnosti uvelike se razlikuju po težini i vrsti prisutnih teškoća. Razumijevanje obilježja Prader-Willijeva sindroma olakšat će stručnjacima planiranje podrške. Ciljevi ovog rada su pregledati i sažeti dio literature o komunikacijskim, jezičnim i govornim sposobnostima osoba s Prader-Wilijevim sindromom, opisati obilježja koja mogu pridonijeti teškoćama u socijalnoj komunikaciji, promijenjenom glasu, jezičnoj i govornoj funkciji, te uskladu s time predložiti moguće smjernice u logopedskoj podršci. Osim toga, istaknut će se i utjecaj bolesti na obitelj oboljelog. Prader-Willi syndrome is a rare, complex genetic disorder. It is caused by the loss of function of paternal genes on chromosome number 15. The condition occurs in one out of every 12,000–15,000 births and affects equal number of males and females (International Prader-Willi Syndrome Organisation, 2009). Prader-Willi syndrome is characterized by neonatal hypotonia, obesity, hypogonadism, delayed early motor development, low growth, intellectual disability, behavioral problems as well as speech and language difficulties. The symptoms and severity of Prader-Willi syndrome can vary from one person to another. Many features of the disorder are nonspecific while others may develop slowly over time or can be subtle. The most of research has been focused primarily on medical, genetic, and behavioral aspects of the syndrome. There is limited information available regarding speech and language abilities of individuals with Prader-Willi syndrome. The speech and language skills of individuals with Prader-Willi syndrome differ greatly in the severity and type of deficits that they present. The understanding of features of Prader-Willi syndrome will facilitate the planning of appropriate support. The aim of this paper is to review and summarize part of literature on the communication, speech and language abilities of individuals with Prader-Willi syndrome, and to describe features that may contribute to social communication problems, altered voice, speech and language function as well as to suggest possible strategies of speech and language support. In addition, the impact of the disease itself on the family of the patient will be highlighted.