Bone Fracture in Rett Syndrome
Mechanisms and Prevention Strategies
Bibliographic Data
| ID | 15718489 |
|---|---|
| Authors | Carla Caffarelli (0000-0003-4163-7289, University of Siena, corresponding author), Antonella Al Refaie (University of Siena), Caterina Mondillo (University of Siena), Michela De Vita (University of Siena), Leonardo Baldassini (University of Siena), Giuseppe Valacchi (0000-0002-8792-0947, North Carolina State University), Stefano Gonnelli (0000-0002-9914-0550, University of Siena) |
| Year | 2023 |
| Volume | 10 |
| Issue | 12 |
| Pages | 1861-1861 |
| Publication date | 2023-11-27 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10121861 |
| PMID | 38136063 |
| OpenAlex | W4389047210 |
| Language | EN |
| References cited | 49 |
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
Biology · Bone mineral · Muscle contracture · Osteopenia · Osteoporosis · Physical therapy · Rett syndrome · Vitamin D and neurology · Child Nutrition and Feeding Issues · Family and Disability Support Research · Genetics and Neurodevelopmental Disorders · Medicine · Internal Medicine · Pediatrics · Surgery
| Highly cited | No |
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