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Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report   
Yazarlar (5)
Öğr. Gör. Atahan TURHAN Öğr. Gör. Atahan TURHAN
Kırşehir Ahi Evran Üniversitesi, Türkiye
Öğr. Gör. Ömer Faruk ÖZÇELEP Öğr. Gör. Ömer Faruk ÖZÇELEP
Kırşehir Ahi Evran Üniversitesi, Türkiye
Doç. Dr. Başak ÇİĞDEM KARAÇAY Doç. Dr. Başak ÇİĞDEM KARAÇAY
Kırşehir Ahi Evran Üniversitesi, Türkiye
Dr. Öğr. Üyesi İsmail CEYLAN Dr. Öğr. Üyesi İsmail CEYLAN
Kırşehir Ahi Evran Üniversitesi, Türkiye
Prof. Dr. Figen TUNCAY Prof. Dr. Figen TUNCAY
Kırşehir Ahi Evran Üniversitesi, Türkiye
Devamını Göster
Özet
Objective: Ataxia Telangiectasia (AT) also known as Louis-Bar syndrome, is a rare autosomal recessive genetic disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency. This disease is characterized by clinical pictures such as balance, coordination, and gait disorder. This case report aims to examine the short-term effects of physiotherapy and rehabilitation practices consisting of balance and gait exercises on a pediatric patient with AT. Case: A 9-year-old girl diagnosed with AT presented with loss of balance. Sociodemographic data of the patient such as age, height, weight, sex, and BMI were recorded. The patient's balance was evaluated with The Pediatric Balance Scale (PBS), The Functional Reach Test (FRT) and The Timed Get Up and Go Test (TUG); the level of functional independence was evaluated with The Pediatric Functional Independence Scale (WeeFIM). The patient received 30 sessions of physiotherapy 4 times per week for 8 weeks, each session 45-60 minutes. Evaluations were made before and after 8 weeks of treatment. Results: The pre-treatment values were found to be PBS 22, FRT 16 cm, TUG 17.2 sec, and WeeFIM 62. Post-treatment values were calculated as PBS 22, FRT 18 cm, TUG 15.6 sec, and WeeFIM 62. Conclusion: The physiotherapy and rehabilitation approach in patients with AT will be effective in improving symptoms such as balance and coordination disorders.
Anahtar Kelimeler
Makale Türü Özgün Makale
Makale Alt Türü Diğer hakemli uluslarası dergilerde yayınlanan tam makale
Dergi Adı Sağlık ve Yaşam Bilimleri Dergisi
Dergi ISSN 2687-248X
Dergi Tarandığı Indeksler EBSCOhos, Türkiye Atıf Dizini, Asos İndeks
Makale Dili Türkçe
Basım Tarihi 12-2023
Cilt No 5
Sayı 1
Sayfalar 180 / 184
Doi Numarası 10.33308/2687248X.202353308
Makale Linki https://doi.org/10.33308/2687248x.202353308
BM Sürdürülebilir Kalkınma Amaçları
Atıf Sayıları
Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

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