Abstract
Silver-Russell Sendromu, büyüme ve gelişim geriliğine neden olan nadir görülen bir hastalıktır. Bu çalışmanın amacı hipotonik Silver-Russell Sendromu’lu bir olguda sanal gerçeklik uygulamalarının etkilerinin incelenmesidir. Dokuz yaşındaki erkek hasta sık düşme, yürümede güçlük ve üst ekstremite fonksiyonlarını yerine getirmede zorluk şikayetiyle tedaviye alınmıştır. Hastanın dengesi Pediatrik Berg Denge Ölçeği ile, kaba motor fonksiyonları Kaba Motor Fonksiyon Ölçütü ile, fonksiyonel bağımsızlık düzeyi Çocuklar İçin Fonksiyonel Bağımsızlık Ölçeği ile, kas kuvveti Gross Kas Testi ile değerlendirilmiştir. Hasta 2 ay boyunca haftada 2 seans 45 dakika X Box 360 Kinect Sanal Gerçeklik Uygulaması ile rehabilitasyona dahil edilmiştir. Hastanın vücut ağırlığının 22 kg olduğu boy uzunluğunun 120 cm olduğu tespit edilmiştir. Pediatrik Berg Denge Ölçeği, Kaba Motor Fonksiyon Ölçütü, Fonksiyonel Bağımsızlık Ölçeği skorları tedavi öncesi-tedavi sonrası sırasıyla, 34-43, 213 (%79,54) – 240 (%90,9), 97-110 olarak ölçülmüştür. Kas kuvveti üst ve alt ekstremitede ilk değerlendirmede orta, tedavi sonrası iyi olarak tespit edilmiştir. Olgumuzun tedavi sonuçları Silver-Russell sendromlu çocuklara sanal gerçeklik uygulamalarının denge, fonksiyonel bağımsızlık düzeyi, kaba motor fonksiyonu ve kas kuvveti üzerine etkili olabileceğini göstermiştir. Bu alanda yapılacak geniş örneklemli çalışmalarla sanal gerçeklik uygulamalarının etkinliği daha net bir şekilde ortaya konacaktır.
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Thanks
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References
- 1. Yalçın Silver HK, Kiyasu W, George J, et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics. 1953;12:368-376.
- 2. Wakeling EL, Amero SA, Alders M, et al. Epigenotype- phenotype correlations in Silver- Russel syndrome. J Med. Genet. 2010;47:760-768.
- 3. Turner CL, Mackay DM, Callaway JL, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprintedloci. Eur J Hum Genet. 2010;18:648-655.
- 4. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105-124.
- 5. Smeets CC, Renes JS, Van Der Steen M, et al. Metabolic health and long-term safety of growth hormone treatment in Silver-Russell syndrome. J Clin Endocrinol Metab, 2016;102:983-991.
- 6. Azzi S, Abi Habib W, Netchine I. Beckwith–Wiedemann and Russell–Silver Syndromes: From new molecular insights to the comprehension of imprinting regulation Curr Opin Endocrinol Diabetes Obes. 2014;21:30-38.
- 7. Wollmann HA, Kirchner T, Enders H et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995;154:958-968.
- 8. Abraham E, Altiok H, Lubicky JP. Musculoskeletal manifestations of Russell-Silver syndrome. J Pediatr Orthop 2004;24:552-564.
- 9. Rose, T, Nam, CS, Chen, KB. Immersion of virtual reality for rehabilitation. Review. Appl Ergon. 2018;69:153-161.
- 10. Akhter, S, lmnul Islam, M, Al Mamun, H. et al. Silver-Russell syndrome. Sheikh Mujib Med Uni. 2013;6:175-177.
- 11. Erden A, Arslan E A, Dündar B, et al. Reliability and validity of Turkish version of pediatric balance scale. Acta Neurologica Belgica. 2020;1-7.
- 12. Sato T, Adachi M, Nakamura K, et al. "The gross motor function measure is valid for Fukuyama congenital muscular dystrophy." Neuromuscul Disord. 2017;27:45-49.
- 13. Nelson L, Owens H, Hynan L S, et al. The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord. 2006;16:374-380.
- 14. Palisano RJ, Hanna SE, Rosenbaum PL, et al. Validation of a model of gross motor function for children with cerebral palsy. Phys Ther. 2000;80:974-985.
- 15. Ottenbacher KJ, Msall ME, Lyon N, et al.; Measuring Developmental And Functional Status In Children With Disabilities. Dev Med Child Neurol. 1999;41:186-194.
Abstract
Silver-Russell Syndrome is a rare syndrome that causes growth and developmental delay. The aim of this study is to examine the physiotherapy results of virtual reality application in a patient with hypotonic Silver-Russell syndrome. Nine-year-old male patient was started to treat with the complaints of frequent fall, difficulty in walking and performing upper extremity functions. The patient's balance, gross motor functions, functional independence level, and muscle strength were evaluated with Pediatric Berg Balance Scale, Gross Motor Function Scale, Functional Independence Scale and Gross Muscle Test, respectively. The patient was included in rehabilitation with 2 sessions of 45 minutes X Box 360 Kinect Virtual Reality Application per week for 2 months. The patient's body weight was measured as 22 kg and height was 120 cm. Pediatric Berg Balance Scale score, Gross Motor Function Scale score, Functional İndependence Measure score pre-treatment/after treatment were 34/43, 213 (79.54%) /240 (90.9%), 97/110 points, respectively. Muscle strength was found to be moderate in the upper and lower extremities at the first evaluation and good after treatment. The treatment results of our case showed that virtual reality applications can be effective on balance, functional independence level, gross motor function and muscle strength in children with Silver-Russell syndrome. The effectiveness of virtual reality applications will be revealed more clearly with large samples studies in this field.
Project Number
yok
References
- 1. Yalçın Silver HK, Kiyasu W, George J, et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics. 1953;12:368-376.
- 2. Wakeling EL, Amero SA, Alders M, et al. Epigenotype- phenotype correlations in Silver- Russel syndrome. J Med. Genet. 2010;47:760-768.
- 3. Turner CL, Mackay DM, Callaway JL, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprintedloci. Eur J Hum Genet. 2010;18:648-655.
- 4. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105-124.
- 5. Smeets CC, Renes JS, Van Der Steen M, et al. Metabolic health and long-term safety of growth hormone treatment in Silver-Russell syndrome. J Clin Endocrinol Metab, 2016;102:983-991.
- 6. Azzi S, Abi Habib W, Netchine I. Beckwith–Wiedemann and Russell–Silver Syndromes: From new molecular insights to the comprehension of imprinting regulation Curr Opin Endocrinol Diabetes Obes. 2014;21:30-38.
- 7. Wollmann HA, Kirchner T, Enders H et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995;154:958-968.
- 8. Abraham E, Altiok H, Lubicky JP. Musculoskeletal manifestations of Russell-Silver syndrome. J Pediatr Orthop 2004;24:552-564.
- 9. Rose, T, Nam, CS, Chen, KB. Immersion of virtual reality for rehabilitation. Review. Appl Ergon. 2018;69:153-161.
- 10. Akhter, S, lmnul Islam, M, Al Mamun, H. et al. Silver-Russell syndrome. Sheikh Mujib Med Uni. 2013;6:175-177.
- 11. Erden A, Arslan E A, Dündar B, et al. Reliability and validity of Turkish version of pediatric balance scale. Acta Neurologica Belgica. 2020;1-7.
- 12. Sato T, Adachi M, Nakamura K, et al. "The gross motor function measure is valid for Fukuyama congenital muscular dystrophy." Neuromuscul Disord. 2017;27:45-49.
- 13. Nelson L, Owens H, Hynan L S, et al. The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord. 2006;16:374-380.
- 14. Palisano RJ, Hanna SE, Rosenbaum PL, et al. Validation of a model of gross motor function for children with cerebral palsy. Phys Ther. 2000;80:974-985.
- 15. Ottenbacher KJ, Msall ME, Lyon N, et al.; Measuring Developmental And Functional Status In Children With Disabilities. Dev Med Child Neurol. 1999;41:186-194.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Project Number | yok |
| Publication Date | April 29, 2022 |
| Submission Date | December 30, 2020 |
| Published in Issue | Year 2022 Volume: 9 Issue: 1 |
