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TitleRett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes
Author(s)Temudo, Teresa
Santos, Mónica
Ramos, Elisabete
Dias, Karin
Vieira, José
Moreira, Ana
Calado, Eulália
Carrilho, Inês
Oliveira, Guiomar
Levy, António
Barbot, Clara
Fonseca, Maria
Cabral, Alexandra
Cabral, Pedro
Monteiro, José
Borges, Luís
Gomes, Roseli
Mira, Graça
Pereira, Susana
Santos, Manuela
Fernandes, Anabela Silva
Epplen, Jorg
Sequeiros, Jorge
Maciel, P.
Mental retardation
Movement disorder
Clinical criteria
Clinical stage
Issue dateJan-2011
JournalBrain and Development
Abstract(s)Background: The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. Patients and methods: We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. Results: Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. Conclusion: A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.
Publisher version
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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