Multidisciplinary approach in prader willi syndrome: A case report of 3 years follow up and review of the literature
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Dosyalar
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Bu çalışmanın amacı, Prader Willi Sendromu (PWS) tanısı konmuş bir olgunun 3 yıllık sonuçlarını literatür eşliğinde irdelemektir. Olgu 92 cm boy, 13,5 kg ağırlığında, 3,5 yaşında bir kız çocuğu olup, 8 aylıkken karakteristik yüz şekli, şiddetli genel hipotonisi, mental ve motor gelişim geriliği ile PWS düşünülmüş ve kromozom analizi ile tanısı konmuştur. O dönemde fizyoterapi ve rehabilitasyon programına yönlendirilmiş, düzenli olarak pediatrik nörolog, pediatrik endokrinolog ve pediatrik fizyoterapist tarafından takip edilmiştir. Oturma, emekleme, ayakta durma ve yürüme basamaklarını sırasıyla 12, 24, 30, 38. aylarda tamamlamıştır. İlk kelimesini 2,5 yaşında söylemiş olup kelime hazinesi halen 6 kelime ile sınırlıdır: henüz cümle kuramamaktadır. Bu çalışma, uzun süre takip edilen PWS'li ilk olgu özelliğini taşımaktadır. PWS'li olgularda multidisipliner yaklaşımların gerekli olacağını düşünüyoruz.
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.
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.
Açıklama
Anahtar Kelimeler
Prader Willi Syndrome, Physiotherapy, Neurodevelopment, Hypotonia, Comparative Study, Prader-Willi Sendromu, Rehabilitation, Nörogelişim, Hipotoni, Karşılaştırmalı Çalışma
Kaynak
Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
24
Sayı
1
