Cri Du Chat Sendromlu Bir Olguda Yapılandırılmış Ergoterapi Müdahalesinin Etkisi

Yıl 2024, Cilt: 4 Sayı: 1, 209 - 219, 03.05.2024

İbrahim Erarslan , Fatmanur Ata , Devrim Tarakcı , Elif Özçelik

https://doi.org/10.56061/fbujohs.1344960

Öz

Bu çalışmada Cri Du Chat (Kedi Miyavlaması) Sendromu’na sahip 9 yaşındaki yaşındaki bir olgunun öz bakım, fonksiyonel mobilite, sosyal ve motor becerilerindeki problemlere yönelik ergoterapi müdahalesinin etkisini incelemek amaçlanmıştır. Olguya ergoterapi müdahalesi öncesi ve sonrasında olmak üzere KAPÖ (Kanada Aktivite Performans Ölçeği) ve WeeFIM (Çocuklar İçin Fonksiyonel Bağımsızlık Ölçümü) ; değerlendirme seansı esnasında Pediatrik Berg Denge Ölçeği uygulandı; müdahale öncesi ve sonrasında çocuğun ebeveynine 2 kez PEDI (Pediatrik Özürlülük Değerlendirme Envanteri) uygulandı. Çalışmada KAPÖ’nün kendine bakım, serbest zaman ve üretkenlik/oyun parametreleri kullanıldı. Ergoterapi seansları 8 seans uygulandı. 8 seans sonrasında 5 problemli alanın yer aldığı KAPÖ’nün puanlamasında ortalama 2,6’dan 5,2’ye yükselerek performans ve memnuniyet değerlendirmelerinde anlamlı farklar gözlendi. WeeFIM sonuçlarına bakıldığında kendine bakım, sfinkter kontrolü, mobilite, lokomosyon ve iletişim bölümlerinden elde edilen ortalama değer 71’den 93’e yükseldi. Ebeveyn tarafından cevaplandırılan PEDI sonuçlarına göre kendine bakım, mobilite ve sosyal fonksiyon parametrelerinde “yapabilir” olarak işaretlenen cevapların sayısı arttı. Pediatrik Berg Denge Ölçeği sonuçlarına göre ise denge skalasındaki skor puanlarında artış gözlendi. Gerçekleştirilen ergoterapi müdahaleleriyle bireyin öz bakım, fonksiyonel mobilite, sosyal ve motor becerilerinde gelişmeler kaydedilip günlük yaşam aktivitelerinde, yardımcı günlük yaşam aktivitelerinde, sosyal katılımında ve oyun aktivitelerinde bağımsızlığının arttığı görülmüştür.

Anahtar Kelimeler

Cri Du Chat Sendromu, Ergoterapi, Duyu Bütünleme, Denge, Motor Beceriler

Effect of Structured Occupational Therapy Intervention in a Case with Cri Du Chat Syndrome

Öz

In this study, it was aimed to present a 9-year-old patient with Cri Du Chat Syndrome, to evaluate the effectiveness of an occupational therapy intervention for problems in self-care, functional mobility, social and motor skills. Before and after the occupational therapy intervention, the patient was given 2 times COPM (Canadian Activity Performance Scale) and WeeFIM (Functional Independence Measurement for Children); Pediatric Berg Balance Scale was employed during the assessment session; PEDI (Pediatric Disability Assessment Inventory) was employed to the child's parent twice before and after the intervention. Self-care, leisure time and productivity/play parameters of COPM were used in the study. Occupational therapy sessions were performed for 8 sessions. After 8 sessions, significant differences were observed in performance and satisfaction evaluations, increasing from 2.6 to 5.2 in the scoring of COPM, which included 5 problem areas. Looking at the WeeFIM results, the average value obtained from the self-care, sphincter control, mobility, locomotion, and communication sections increased from 71 to 93. According to the PEDI results answered by the parents, the number of answers marked as "can" increased in the parameters of self-care, mobility, and social function. According to the Pediatric Berg Balance Scale results, an increase was observed in the score points in the balance scale. It has been observed that the individual's self-care, functional mobility, social and motor skills have improved with the occupational therapy interventions, and his independence in daily living activities, auxiliary daily life activities, social participation and play activities has increased.

Anahtar Kelimeler

Cri Du Chat Syndrome, Occupational Therapy, Sensory Integration, Balance, Motor Skills

Kaynakça

• Boiron, M., Nobrega, L.D., Roux, Henrot, S.A., & Saliba, E. (2007). Effects of oral stimulation and oral support on non-nutritive sucking and feeding performance in preterm infants. Developmental Medicine & Child Neurology, 49(6), 439–444. https://doi.org/10.1111/j.1469-8749.2007.00439.x
• Caballero, Á.R., Lagares, D.T., Pérez, A.R., Figallo, M.A.S., Guisado, J.H., & Machuca-Portillo, G. (2010). Cri du chat syndrome: a critical review. Medicina Oral, Patología Oral y Cirugía Bucal, 15(3), 12.
• Carswell, A., McColl, M.A., Baptiste, S., Law, M., Polatajko, H., & Pollock, N. (2004). The Canadian Occupational Performance Measure: a research and clinical literature review. Canadian Journal of Occupational Therapy, 71(4), 210-222.
• Chen, C.C., Bode, R.K., Granger, C.V., & Heinemann, A.W. (2005). Psychometric properties and developmental differences in children’s ADL item hierarchy: A study of the WeeFIM® instrument. American Journal of Physical Medicine & Rehabilitation, 84(9), 671-679.
• Çankaya, Ö., & Günel, M.K. (2020). Okul çağı serebral palsili çocuklarda kişisel faktörler, günlük aktivite performansı ve aileye olan etkinin karşılaştırılması. Journal of Exercise Therapy and Rehabilitation, 7(3), 213-220. https://doi.org/10.1097/01.phm.0000176439.32318.36
• Deardorff, M.A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., ... & Krantz, I.D. (2007). Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. The American Journal of Human Genetics, 80(3), 485-494. https://doi.org/10.1086/511888
• Espirito Santo, L.D., Moreira, L.M.A., & Riegel, M. (2016). Cri-Du-Chat Syndrome: Clinical profile and chromosomal microarray analysis in six patients. BioMed Research International, 2016. https://doi.org/10.1155/2016/5467083
• Gonca, A.R.I., & Günel, M.K. (2015). Serebral palsili çocuklarda nörogelişimsel tedaviye dayalı gövde eğitiminin gövde kontrolüne etkisi. Journal of Exercise Therapy and Rehabilitation, 2(3), 79-85.
• Guala, A., Spunton, M., & Tognon, F. (2016). Psychomotor development in cri du chat syndrome: Comparison in two Italian cohorts with different rehabilitation methods. Sci World, 1, 1-4. https://doi.org/10.1155/2016/3125283
• He, J.P., Qian, Y., Liu, W.J., Tang, J., Qin, M.H., Luo, S.J., ... & Lv, M.X. (2021). Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies. Taiwanese Journal of Obstetrics and Gynecology, 60(2), 318-323. https://doi.org/10.1016/j.tjog.2021.01.010
• Holland, P., Wildhagen, M., Istre, M., Reiakvam, O.M., Dahl, J.A., & Søraas, A. (2022). Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease. Clinical Epigenetics, 14(1), 1-12. https://doi.org/10.1186/s13148-022-01350-3
• Kim, M.K., & Kim, D.J. (2018). Effects of oral stimulation intervention in newborn babies with Cri du Chat syndrome: Single-Subject Research Design. Occupational Therapy International, 2018. https://doi.org/10.1155/2018/6573508
• Lejeune, J. (1963). Trois cas de délétion partielle du bras court d'un chromosome 5. CR Acad Sci, 257, 3098-3102.
• Mainardi, P., Pastore, G., & Castronovo, C. (2006). The natural history of cri du chat syndrome: A report from the Italian Register. Eur J Med Genet, 49(5), 363-383. https://doi.org/10.1016/j.ejmg.2005.12.004
• Mainardi, P., Perfumo, C., Calì, A., Coucourde, G., Pastore, G., & Cavani, S. (2001). Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation. J Med Genet, 38(3), 151–158. https://doi.org/10.1136%2Fjmg.38.3.151
• Moss, J.F., Oliver, C., Berg, K., Kaur, G., Jephcott, L., & Cornish, K. (2008). Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. American Journal on Mental Retardation, 113(4), 278-291. https://doi.org/10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2
• Rimoin, D.L., Connor, J.M., Pyeritz, R.E., & Korf, B.R. (2002). Nature and frequency of genetic disease. Emery and Rimoin’s Principles and Practice of Medical Genetics, 1, 55-59.
• Sarıyer, M.N. (2018). Cri du Chat Sendromu Dil Özellikleri: Olgu Sunumu. Dil Konuşma ve Yutma Araştırmaları Dergisi, 1(3), 246-257.
• Seçgin, C.K., Özdede, M., & Gülşahı, A. (2018). Kromozomal Sendromlar (Down, Cri du Chat, Turner, Frajil X). In Öztunç H. (Ed.), Oral ve maksillofasiyal bölgeyi etkileyen sendromlar (1st ed., pp. 36-42).
• Sigafoos, J., O’Reilly, M.F., & Lancioni, G.E. (2009). Cri-du-chat. Developmental Neurorehabilitation, 12(3), 119-121. https://doi.org/10.1080/17518420902975720
• Tur, B.S., Küçükdeveci, A.A., Kutlay, Ş., Yavuzer, G., Elhan, A.H., & Tennant, A. (2009). Psychometric properties of the WeeFIM in children with cerebral palsy in Turkey. Developmental Medicine & Child Neurology, 51(9), 732-738. https://doi.org/10.1111/j.1469-8749.2008.03255.x
• Wu, Q., Niebuhr, E., Yang, H., & Hansen, L. (2005). Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. European Journal of Human Genetics, 13(4), 475–485. https://doi.org/10.1038/sj.ejhg.5201345
• Yanez-Vico, R.M., Rodriguez-Caballero, A., Iglesias-Linares, A., Guerra-Lopez, N., Torres-Lagares, D., & Machuca-Portillo, G. (2010). Craniofacial characteristics in cri-du-chat syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 110(6), 38-44. https://doi.org/10.1016/j.tripleo.2010.08.021
• Yardımcı Lokmanoğlu, B.N., Mutlu, A., Livanelioğlu, A., & Haliloğlu, G. (2021). The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: A case report. The Turkish Journal of Pediatrics, 63(1), 167-173. https://doi.org/10.24953/turkjped.2021.01.021
• Zengin, G. (2021). Çocuk ve ergen ruh sağlığında ergoterapi. Ergoterapi ve Rehabilitasyon Dergisi, 9(2), 34-35. https://dergipark.org.tr/tr/download/issue-file/51692