Tina Bregant
Center za izobraževanje, rehabilitacijo in usposabljanje – CIRIUS Kamnik, Kamnik, Slovenija
Marta Orehek Kirbiš
Center za izobraževanje, rehabilitacijo in usposabljanje – CIRIUS Kamnik, Kamnik, Slovenija
Teja Bandel-Castro
Center za izobraževanje, rehabilitacijo in usposabljanje – CIRIUS Kamnik, Kamnik, Slovenija
Andreja Širca Čampa
Služba za dietoterapijo in bolniško prehrano, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
Primož Kotnik
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija
Abstract
Prader-Willi syndrome (PWS) is a complex genomic imprinting disorder of chromosomal region 15q, characterized by hypotonia, feeding problems, and emotional-behavioural problems. Comprehensive treatment includes pharmacological therapy with the replacement of growth hormone as well as other pharmacological therapies against, e.g., depression, attention disorders, and psychosis. In addition, non-pharmacological measures and behavioural strategies are the keys to caring for these patients.
We present a comprehensive treatment of children with Prader-Willi syndrome as implemented at our Centre for Education, rehabilitation, and Training CIRIUS Kamnik. We present a cohort of children with genetically confirmed PWS (n=5; age=11.4 ± 3.1 years, of which four were boys) and comprehensive follow-up we offer with dietary counselling, body content measurement (with electronic device BIVA), physiatry treatment with the prescription of medical devices and psychological treatment, all of which contribute to their better functionality and control of the condition. The paper also presents practical instructions on how to act in specific behavioural situations, using examples.
Key words: Prader-Willi syndrome (PWS), comprehensive treatment, medical devices, dietary counselling, medications, behavioural strategies