Logopedija, Vol. 13 No. 2, 2023.
Pregledni rad
https://doi.org/10.31299/log.13.2.3
Prader-Willi Syndrome - Characteristics, Communication, Speech and Language
Nevena Vučinac Zelić
; Klinički bolnički centar Osijek, Klinika za pedijatriju Josipa Huttlera 4, Osijek
Sažetak
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.
Ključne riječi
Prader-Willi syndrome; features; speech; language; speech-language therapy
Hrčak ID:
311980
URI
Datum izdavanja:
21.12.2023.
Posjeta: 515 *