ANGELMAN SENDROMU’NDA FİZYOTERAPİ VE REHABİLİTASYON: OLGU SUNUMU

Öz

Bu olgu sunumunda, Angelman Sendromu tanılı 2 yaşındaki bir kız çocuğunun motor gelişim durumu ve erken dönemde uygulanan fizyoterapi müdahalesinin etkileri değerlendirilmiştir. Gelişimsel gecikme, konuşma eksikliği ve anlamsız gülme davranışlarıyla başvuran hastada mikrosefali, hipotoni ve ataksik yürüyüş gözlenmiştir. Kaba motor fonksiyon düzeyi KMFÖ 88 testi ile değerlendirilmiş, özellikle ayakta durma ve yürüme becerilerinde ciddi gerilik tespit edilmiştir. Uygulanan fizyoterapi programı; denge tahtası, pilates topu, engel çalışmaları ve gövde stabilitesine yönelik aktivitelerden oluşmuştur. Yoğun ve bireyselleştirilmiş fizyoterapi uygulamaları sonucunda, çocuğun denge ve postüral kontrolünde belirgin iyileşme sağlanmış, motor gelişiminde ilerleme kaydedilmiştir. Angelman Sendromu olan bireylerde erken fizyoterapi müdahaleleri, bağımsızlık düzeyini artırmada, komplikasyonları önlemede ve yaşam kalitesini desteklemede önemli bir rol oynamaktadır.

Anahtar Kelimeler

• Angelman Sendromu
• fizyoterapi
• motor gelişim
• denge
• olgu sunumu
• erken müdahale

PHYSIOTHERAPY AND REHABILITATION IN ANGELMAN SYNDROME: A CASE REPORT

Öz

This case report evaluates the motor development and early effects of physiotherapy intervention in a 2-year-old girl diagnosed with Angelman Syndrome. The patient presented with developmental delay, lack of speech, and episodes of inappropriate laughter. Clinical findings included microcephaly, hypotonia, and ataxic gait. Gross motor function was assessed using the GMFM-88 test, revealing significant delays in standing and walking skills, while partial development was noted in sitting, lying, and rolling. The physiotherapy program consisted of activities such as balance board training, static and dynamic balance exercises on a therapy ball, hurdle crossing, side stepping, and unsupported reaching in standing. Additionally, midline-based fine motor tasks like playing with dough were included to support trunk stability. Intensive and individualized physiotherapy led to noticeable improvements in balance and postural control, as well as progress in motor development. Early physiotherapy interventions in individuals with Angelman Syndrome play a crucial role in increasing independence, preventing secondary complications, and supporting quality of life.

Anahtar Kelimeler

• Angelman Syndrome
• physiotherapy
• motor development
• balance
• case report
• early intervention

Kaynakça

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