2021, Number 2
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Rev Cub de Med Fis y Rehab 2021; 13 (2)
Comprehensive rehabilitation of a patient with Cri du chat syndrome
Zaldívar BM, González GJ, Pérez PN, Díaz PA, Ramírez RY, Valle RY
Language: Spanish
References: 15
Page: 1-15
PDF size: 502.25 Kb.
ABSTRACT
Cri du chat syndrome is a rare genetic disorder. The aim of the article is to describe the evolution of a patient with this disease after comprehensive rehabilitation treatment. The case of a 4-year-old female patient is reported here. She was treated in the children neurology clinic at the International Center for Neurological Restoration in 2019. The treatment included 20 stimulation sessions for each specialty: physical, occupational, language and other therapeutic alternatives. The Brunet-Lézine Scale was applied and the qualitative evolution of the different therapies and the Gross Motor Function Scale were described before and after treatment. It was concluded that comprehensive rehabilitation was effective in this patient, as improvement was evidenced in her motor function, language, and manipulative skills.
REFERENCES
Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, et al. Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. Scientific World Journal. 2016. doi:http://doi.org/10.1155/2016/3125283
Naumova OY, Rychkov SY, Kuznetzova TV, Odintsova VV, Kornilov SA, Grigorenko EL. DNA methylation alterations in the genome of a toddler with cri‐du‐chat syndrome. Clin Case Rep. 2017;20;6(1):14-7. doi: http://doi.org/10.1002/ccr3.1274
Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. 5p Deletions: Current Knowledge and Future Directions. Am J Med Genet C Semin Med Genet. 2015;169(3):224-38. doi: http://doi.org/10.1002/ajmg.c.31444
Ajitkumar A, Matahi JK. Cru Du Chat Syndrome. In: StatPearls. Treasure Island (FL):Stat Pearls Publishing; 2019 [acceso 03/09/2020]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK482460/
Guala A, Spunton M, Kalantari S, Kennerknecht I, Danesino C. Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Case Rep Genet. 2017. doi:http://doi.org/10.1155/2017/5181624
Corrêa T, Feltes BC, Riegel M. Integrated Analysis of the Critical Region 5p15.3–p15.2 Associated with Cri-du-Chat syndrome. Genet Mol Biol. 2019;42(1 Suppl 1):186-96. doi:http://doi.org/10.1590/1678-4685-GMB-2018-0173
Rodríguez Caballero A, Torres Lagares D, Rodríguez Pérez A, Serrera Figallo MA, Hernández Guisado JM, Machuca Portillo G. Cri Du Chat Syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010;(15):e473-e478. doi: http://doi.org.10.4317/medoral.15.e473
Caro Samada N. Estudio psicopedagógico del síndrome del maullido del gato. Máster en psicología educativa. Curso 2010-2011. Facultad de Psicología de la Universidad de Sevilla. [acceso 04/09/2020]. Disponible en: https://asimaga.org/estudio-psicopedagogico-del-sindrome-del-maullido-del-gato/
Espirito Santo LD, Moreira LMA, Riegel M. Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. Biomed Res Int. 2016. doi: http://doi.org/10.1155/2016/5467083
Pedroza Guardado ME, Gaviño Vergara A. Primer caso de síndrome de Cri Du Chat en el estado de Quintana Roo. Revista Salud Quintana Roo. 2019[acceso 05/09/2020];12(41):26-9. Disponible en: https://www.medigraphic.com/pdfs/salquintanaroo/sqr-2019/sqr1941f.pdf
Marrero Santana N, Sánchez Savigñón M, Pérez Pérez N, Gil Agüero E. Terapia ocupacional en paciente con síndrome de Guillain-Barré. Revista Cubana de Medicina Física y Rehabilitación. 2020 [acceso 05/09/2020];12(2):e404. Disponible en: https://www.medigraphic.com/pdfs/revcubmedfisreah/cfr-2020/cfr202e.pdf
Álvarez Ortiz A, Vera Cuesta H, Noa Pelier BY; Echemendía del Valle A, Aguilar Rodríguez EM, Placeres López Y. Actividad física grupal en la recuperación motora de niños con parálisis cerebral espástica. Invest. Medicoquir. 2019 [acceso 05/09/2020];11(Supl.1) Disponible en: http://www.revcimeq.sld.cu/index.php/imq/article/view/462/535
Torriente Herrera N, Zurita Cruz C. La estimulación para el desarrollo de los niños con distonía. Invest. Medicoquir. 2020 [acceso 05/09/2020];12(3). Disponible en:http://www.revcimeq.sld.cu/index.php/imq/article/view/643
Brunet O, Lezine I. Escala para medir el desarrollo psicomotor de la primera infancia. Manual de instrucciones. Madrid: MEPSA.1971.
Pallisano RJ, Hanna SE, Rosenbaum PL. Validation of a model of gross motor function for children with cerebral palsy. Phys Ther. 2000;80:974-985. doi:http://doi.org.10.1093/ptj/80.10.974