{"title":"神经进化概念BOBATH在CRI DU CHAT综合征中的物理治疗方法:案例研究","authors":"","doi":"10.34059/ciejop.2019v27i1-4","DOIUrl":null,"url":null,"abstract":"Cri du Chat Syndrome (CDCS) is a genetic disease that results from an extremely small deletion (5p15.2) or a deletion of the entire short arm of the chromosome (5p). It is a rare disease, with an incidence of 1/15000 to 1/50000 live births, with a higher prevalence in females. The clinical manifestations are characterized by typical crying, known as meowing of cat, inferior deviation of the extremities of the lips, rounded face, height and weight below the standards, wide nasal bridge, epicanthic folds, ears with low implantation, hypotonia, hypertelorism, microretrognatism and delayed psycho-motor development. The treatment is based on early rehabilitation, in which physiotherapy works to prevent complications and to correct deformities. Thus, the objective of this study was to verify the efficacy of the Bobath Concept contribution in the treatment of patients with CDCS. The case study was done with a 4-year-old female child with a confirmed diagnosis by genetic screening. The patient was submitted to the evaluation through the Denver Test and Pediatric Disability Assessment (PEDI) protocols. The intervention was performed in 20 sessions at the physical therapy clinic of ANPR in Maringá-PR, for 30 minutes, with repetitions of 2 times a week, totaling 2 months of treatment, through the Bobath Concept. Motor stimulation was performed in the patient according to their needs. The results show that the treatment through the physiotherapeutic approach, using the Bobath Concept can improve the child's motor development, promoting her independence.","PeriodicalId":391637,"journal":{"name":"Revista Científica JOPEF","volume":"36 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"ABORDAGEM FISIOTERAPÊUTICA PELO CONCEITO NEUROEVOLUTIVO BOBATH NA SÍNDROME CRI DU CHAT: ESTUDO DE CASO\",\"authors\":\"\",\"doi\":\"10.34059/ciejop.2019v27i1-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cri du Chat Syndrome (CDCS) is a genetic disease that results from an extremely small deletion (5p15.2) or a deletion of the entire short arm of the chromosome (5p). It is a rare disease, with an incidence of 1/15000 to 1/50000 live births, with a higher prevalence in females. The clinical manifestations are characterized by typical crying, known as meowing of cat, inferior deviation of the extremities of the lips, rounded face, height and weight below the standards, wide nasal bridge, epicanthic folds, ears with low implantation, hypotonia, hypertelorism, microretrognatism and delayed psycho-motor development. The treatment is based on early rehabilitation, in which physiotherapy works to prevent complications and to correct deformities. Thus, the objective of this study was to verify the efficacy of the Bobath Concept contribution in the treatment of patients with CDCS. The case study was done with a 4-year-old female child with a confirmed diagnosis by genetic screening. The patient was submitted to the evaluation through the Denver Test and Pediatric Disability Assessment (PEDI) protocols. The intervention was performed in 20 sessions at the physical therapy clinic of ANPR in Maringá-PR, for 30 minutes, with repetitions of 2 times a week, totaling 2 months of treatment, through the Bobath Concept. Motor stimulation was performed in the patient according to their needs. The results show that the treatment through the physiotherapeutic approach, using the Bobath Concept can improve the child's motor development, promoting her independence.\",\"PeriodicalId\":391637,\"journal\":{\"name\":\"Revista Científica JOPEF\",\"volume\":\"36 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-06-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Científica JOPEF\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.34059/ciejop.2019v27i1-4\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Científica JOPEF","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34059/ciejop.2019v27i1-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
摘要
Cri du Chat综合征(CDCS)是一种由染色体极小缺失(5p15.2)或整个短臂缺失(5p)引起的遗传性疾病。这是一种罕见的疾病,发病率为1/15000至1/50000活产,女性患病率较高。临床表现为典型的猫叫、唇端下偏、面部圆润、身高体重低于标准、鼻梁宽、内眦褶皱、耳植入低、张力低下、远端远距、微后缩、心理运动发育迟缓。治疗以早期康复为基础,其中物理治疗可以预防并发症和纠正畸形。因此,本研究的目的是验证Bobath概念在治疗CDCS患者中的作用。该病例研究是对一名通过基因筛查确诊的4岁女童进行的。患者通过丹佛测试和儿科残疾评估(PEDI)方案进行评估。干预在Maringá-PR的ANPR物理治疗诊所进行了20次,每次30分钟,每周重复2次,总共2个月的治疗,通过Bobath概念。根据患者的需要对其进行运动刺激。结果表明,通过物理治疗的方法,运用Bobath的概念,可以改善儿童的运动发育,促进其独立性。
ABORDAGEM FISIOTERAPÊUTICA PELO CONCEITO NEUROEVOLUTIVO BOBATH NA SÍNDROME CRI DU CHAT: ESTUDO DE CASO
Cri du Chat Syndrome (CDCS) is a genetic disease that results from an extremely small deletion (5p15.2) or a deletion of the entire short arm of the chromosome (5p). It is a rare disease, with an incidence of 1/15000 to 1/50000 live births, with a higher prevalence in females. The clinical manifestations are characterized by typical crying, known as meowing of cat, inferior deviation of the extremities of the lips, rounded face, height and weight below the standards, wide nasal bridge, epicanthic folds, ears with low implantation, hypotonia, hypertelorism, microretrognatism and delayed psycho-motor development. The treatment is based on early rehabilitation, in which physiotherapy works to prevent complications and to correct deformities. Thus, the objective of this study was to verify the efficacy of the Bobath Concept contribution in the treatment of patients with CDCS. The case study was done with a 4-year-old female child with a confirmed diagnosis by genetic screening. The patient was submitted to the evaluation through the Denver Test and Pediatric Disability Assessment (PEDI) protocols. The intervention was performed in 20 sessions at the physical therapy clinic of ANPR in Maringá-PR, for 30 minutes, with repetitions of 2 times a week, totaling 2 months of treatment, through the Bobath Concept. Motor stimulation was performed in the patient according to their needs. The results show that the treatment through the physiotherapeutic approach, using the Bobath Concept can improve the child's motor development, promoting her independence.