Introduction The aim of this retrospective study was to analyse the current status of Prader-Willi syndrome diagnosis and treatment in Austria and to compare it with data from France. The central question was the age at diagnosis. Furthermore, data on pregnancy, birth, neonatal period and therapeutic measures, in particular with regard to the introduction of growth hormone, were evaluated. Method Data collection in Austria took place at the Department of Paediatric and Adolescent Medicine at the University Hospital of Graz and the University Hospital of Salzburg. In total, data from 29 Austrian patients born between 2000 and 2021 was collected and compared with data from 60 children from France. Results In Austria, Prader-Willi syndrome was diagnosed at a median age of 52 days. 17/25 children (68%) were diagnosed within the first 90 days of life, 12% were diagnosed after the age of 3 years. 28/29 newborns were hospitalised after birth, 16/20 infants required a feeding tube. Physiotherapy was started in 25/27 cases (92.6%), occupational therapy in 17/20 cases (85%) and speech therapy in 12/18 cases (66%). At the time of data collection, 27/29 cases (93.1%) were already receiving growth hormone treatment, which was started at a median age of 2 years. In France, Prader-Willi syndrome was diagnosed at a median age of 23 days, which is statistically significantly earlier than in Austria (p
Diagnostic workup and care of patients with Prader-Willi syndrome – A retrospective study to compare Austria and France
Kraus, J. (Author). 2024
Student thesis: Diploma thesis