Rett syndrome: Clinical and genetic aspects
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- Institutt for klinisk medisin [10728]
Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder which is characterized by an apparently normal development in the first 6 to 18 months of life, followed by loss of acquired skills. Our overall aim was to describe the genotypic and phenotypic variation in the Norwegian RTT population, and the development of clinical features in different phases of life. In this study, 88% (n=74) of individuals with RTT had a mutation in MECP2. The remaining had mutations in one of five other genes, or no identified pathological mutation at all. Significant differences between individuals with MECP2 mutations and those without were observed. Regardless of mutation, epilepsy continued to be a major concern into adult life. In general, the main health issues examined showed stability in prevalence, regardless of age. Overall, adults with RTT have many of the same health challenges as children with RTT. They should therefore be offered the same follow-up in the health care system. In addition, the proven differences between individuals with and without a mutation in MECP2 indicate that the current diagnostic criteria may include individuals with a different disorder under the RTT umbrella.List of papers
Paper I: Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH. “Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome”. Brain and Development, 42(7), 484-495, 2020. DOI: 10.1016/j.braindev.2020.03.008 The article is included in the thesis. Also available at: https://doi.org/10.1016/j.braindev.2020.03.008 |
Paper II: Henriksen MW, Breck H, Paus B, von Tetzchner S, Skjeldal OH, Brodtkorb E. “Epilepsy in classic Rett syndrome: course and characteristics in adult age”. Epilepsy research 145 (2018) 134-139. DOI: 10.1016/j.eplepsyres.2018.06.012. The article is included in the thesis. Also available at: https://doi.org/10.1016/j.eplepsyres.2018.06.012 |
Paper III: Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH. “Medical issues in adults with Rett syndrome – a national survey”. Developmental Neurorehabilitation 23:2, 106-112, 2020. DOI: 10.1080/17518423.2019.1646341. The article is included in the thesis. Also available at: https://doi.org/10.1080/17518423.2019.1646341 |
Paper IV: Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH. “De novo mutations in SCN1A are associated with classic Rett syndrome: a case report”. BMC Medical Genetics (2018) 19:184. DOI: 10.1186/s12881-018-0700-z. The article is included in the thesis. Also available at: https://doi.org/10.1186/s12881-018-0700-z |