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Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi
2010, Cilt 24, Sayı 1, Sayfa(lar) 045-050
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Multidisciplinary Approach in Prader Willi Syndrome: A Case Report of 3 Years Follow Up and Review of the Literature
Tülay TARSUSLU1, Banu ANLAR2, Ayşın UÇKUN KİTAPÇI3
1Abant İzzet Baysal Üniversitesi, Fizik Tedavi ve Rehabilitasyon Yüksekokulu, Bolu, TÜRKİYE
2Hacettepe Üniversitesi, Tıp Fakültesi Pediatrik Nöroloji Kliniği, Ankara, TÜRKİYE
3Bayındır Hastanesi, Pediatri Kliniği, Ankara, TÜRKİYE
Keywords: Prader Willi Syndrome, physiotherapy, neurodevelopment, hypotonia, comparative study

The aim of this study was to present the 3 years follow up of a subject with Prader Willi Syndrome (PWS). The subject was a 3.5 years old girl (height of 92 cm and weight 13.5 kg). Characteristic facial appearance, severe general hypotonus, mental and motor retardation were presented in the subject at eight months of age. At the age of 15 months she was diagnosed as PWS by means of chromosome analysis. She was then referred to physiotherapy and rehabilitation program and follow ups were conducted by a team consisting of a paediatric neurologist, a paediatric endocrinologist and a physiotherapist. Sitting, crawling, standing and walking abilities were achieved at 12, 24, 30 and 38 months, respectively. Her first meaningful word noted was at the age of 2,5 years and when this study was completed she had been using 6 words with no sentence formation. This case report is one of the first that presents a relatively long period follow up of a subject with PWS. Highlighting the necessity of a multidisciplinary approach to PWS.

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