Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies
The present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and fracture”. The fracture frequency ranges from a mi...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-11-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/12/1861 |
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| author | Carla Caffarelli Antonella Al Refaie Caterina Mondillo Michela De Vita Leonardo Baldassini Giuseppe Valacchi Stefano Gonnelli |
| author_facet | Carla Caffarelli Antonella Al Refaie Caterina Mondillo Michela De Vita Leonardo Baldassini Giuseppe Valacchi Stefano Gonnelli |
| author_sort | Carla Caffarelli |
| collection | DOAJ |
| description | The present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and fracture”. The fracture frequency ranges from a minimum of 13.9% to a maximum of 36.1%. The majority of such fractures occur in lower limb bones and are associated with low bone mineral density. Anticonvulsant use, joint contractures, immobilization, low physical activity, poor nutrition, the genotype, and lower calcium and vitamin D intakes all significantly impair skeletal maturation and bone mass accrual in Rett syndrome patients, making them more susceptible to fragility fractures. This review summarizes the knowledge on risk factors for fragility fracture in patients with Rett syndrome and suggests a possible diagnostic and therapeutic care pathway for improving low bone mineral density and reducing the risk of fragility fractures. The optimization of physical activity, along with adequate nutrition and the intake of calcium and vitamin D supplements, should be recommended. In addition, subjects with Rett syndrome and a history of fracture should consider using bisphosphonates. |
| first_indexed | 2024-03-08T20:53:45Z |
| format | Article |
| id | doaj.art-77a94dad58d44f77964fe6e9209206b9 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-08T20:53:45Z |
| publishDate | 2023-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-77a94dad58d44f77964fe6e9209206b92023-12-22T14:00:18ZengMDPI AGChildren2227-90672023-11-011012186110.3390/children10121861Bone Fracture in Rett Syndrome: Mechanisms and Prevention StrategiesCarla Caffarelli0Antonella Al Refaie1Caterina Mondillo2Michela De Vita3Leonardo Baldassini4Giuseppe Valacchi5Stefano Gonnelli6Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDepartment of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDepartment of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDepartment of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDepartment of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyDepartment of Biomedical and Specialist Surgical Sciences, University of Ferrara, 44121 Ferrara, ItalyDepartment of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, ItalyThe present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and fracture”. The fracture frequency ranges from a minimum of 13.9% to a maximum of 36.1%. The majority of such fractures occur in lower limb bones and are associated with low bone mineral density. Anticonvulsant use, joint contractures, immobilization, low physical activity, poor nutrition, the genotype, and lower calcium and vitamin D intakes all significantly impair skeletal maturation and bone mass accrual in Rett syndrome patients, making them more susceptible to fragility fractures. This review summarizes the knowledge on risk factors for fragility fracture in patients with Rett syndrome and suggests a possible diagnostic and therapeutic care pathway for improving low bone mineral density and reducing the risk of fragility fractures. The optimization of physical activity, along with adequate nutrition and the intake of calcium and vitamin D supplements, should be recommended. In addition, subjects with Rett syndrome and a history of fracture should consider using bisphosphonates.https://www.mdpi.com/2227-9067/10/12/1861Rett syndromefracturesosteoporosiscalciumvitamin Dbisphosphonates |
| spellingShingle | Carla Caffarelli Antonella Al Refaie Caterina Mondillo Michela De Vita Leonardo Baldassini Giuseppe Valacchi Stefano Gonnelli Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies Children Rett syndrome fractures osteoporosis calcium vitamin D bisphosphonates |
| title | Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies |
| title_full | Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies |
| title_fullStr | Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies |
| title_full_unstemmed | Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies |
| title_short | Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies |
| title_sort | bone fracture in rett syndrome mechanisms and prevention strategies |
| topic | Rett syndrome fractures osteoporosis calcium vitamin D bisphosphonates |
| url | https://www.mdpi.com/2227-9067/10/12/1861 |
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