COMPREHENSIVE TREATMENT OF CHILDREN AND ADOLESCENTS WITH PRADER-WILLI SYNDROME AT CENTRE FOR EDUCATION, REHABILITATION, AND TRAINING CIRIUS KAMNIK

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.

Keywords

• prader-willi syndrome (pws)
• comprehensive treatment
• medical devices
• dietary counselling
• medications
• behavioural strategies