Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations
| Autor: | Girish Hiremath, Aditi Kantipuly, Shilpa Hundalani, Jay R. Shapiro, Sakkubai Naidu, Charles A. Rohde, Theodore Yablonski, Genila Bibat, Michael V. Johnston, Mary E. Blue |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Methyl-CpG-Binding Protein 2 Physiology Rett syndrome Scoliosis Article MECP2 Central nervous system disease Mice Young Adult Neurodevelopmental disorder Bone Density Statistical significance Internal medicine medicine Rett Syndrome Animals Humans Child Bone mineral Mice Knockout business.industry Infant medicine.disease Endocrinology Child Preschool Pediatrics Perinatology and Child Health Mutation Female business Body mass index |
| Popis: | Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. In 49 female RTT children, ages 1.9–17 years, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene. We also studied 5 adult females, ages 20–33 years, and one male, age 6 years. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated with weight, height, body mass index, clinical severity, degree of scoliosis, use of anticonvulsants and ambulatory status. L1–L4 BMD and BMC showed that 48.9% of them had BMD values greater than 2 SD below age-related norms. BMD values were in the osteoporotic range in the 5 adult females with RTT. Eleven percent of the children and adults with RTT experienced fractures. Low bone mass was correlated with marginal significance to clinical severity and ambulation, but not to scoliosis or anticonvusant use. Lowest bone mass occurred in patients with T158M or R270X mutations but without statistical significance. Studies in a murine model of RTT confirmed low bone mass as an inherent component of this syndrome. MECP2 mutations and clinical parameters impact bone mass in RTT but an association with a specific mutation was not demonstrable. |
| Databáze: | OpenAIRE |
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