Physiotherapy and Rehabilitation in a Child with Joubert Syndrome
Objective. Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/8076494 |
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| author | Özge İpek Özge Akyolcu Banu Bayar |
| author_facet | Özge İpek Özge Akyolcu Banu Bayar |
| author_sort | Özge İpek |
| collection | DOAJ |
| description | Objective. Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods. Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. Results. The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. Discussion. In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay. |
| format | Article |
| id | doaj-art-1e58d5da0a5b47e39f3e7362774b2bfa |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-1e58d5da0a5b47e39f3e7362774b2bfa2025-02-03T05:58:25ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/80764948076494Physiotherapy and Rehabilitation in a Child with Joubert SyndromeÖzge İpek0Özge Akyolcu1Banu Bayar2Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Muğla Sıtkı Koçman University, Muğla, TurkeyDepartment of Physiotherapy and Rehabilitation, Private Yedigün Medical Center, İzmir, TurkeyFaculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Muğla Sıtkı Koçman University, Muğla, TurkeyObjective. Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods. Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM). The case was included in the rehabilitation program by the physiotherapist for one hour for five days a week throughout the period of 13 months in accordance with the neurodevelopmental treatment principles. Results. The case was able to turn around from the supine position to the reverse direction by oneself, and she was able to rise on her forearms facedown and was able to sit, crawl, and walk independently. The GMFM score was 210, whereas WeeFIM score was 65. Discussion. In the direction of those findings, in Joubert Syndrome, physiotherapy and rehabilitation can be effective in coping with the symptoms causing developmental delay.http://dx.doi.org/10.1155/2017/8076494 |
| spellingShingle | Özge İpek Özge Akyolcu Banu Bayar Physiotherapy and Rehabilitation in a Child with Joubert Syndrome Case Reports in Pediatrics |
| title | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome |
| title_full | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome |
| title_fullStr | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome |
| title_full_unstemmed | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome |
| title_short | Physiotherapy and Rehabilitation in a Child with Joubert Syndrome |
| title_sort | physiotherapy and rehabilitation in a child with joubert syndrome |
| url | http://dx.doi.org/10.1155/2017/8076494 |
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