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Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypes

2011Journal article Open access
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dc.contributor.authorTemudo, T
dc.contributor.authorSantos, M
dc.contributor.authorRamos, E
dc.contributor.authorDias, K
dc.contributor.authorVieira, JP
dc.contributor.authorMoreira, A
dc.contributor.authorCalado, E
dc.contributor.authorCarrilho, I
dc.contributor.authorOliveira, G
dc.contributor.authorLevy, A
dc.contributor.authorBarbot, C
dc.contributor.authorFonseca, M
dc.contributor.authorCabral, A
dc.contributor.authorCabral, P
dc.contributor.authorMonteiro, J
dc.contributor.authorBorges, L
dc.contributor.authorGomes, R
dc.contributor.authorMira, G
dc.contributor.authorPereira, SA
dc.contributor.authorSantos, M
dc.contributor.authorFernandes, A
dc.contributor.authorEpplen, JT
dc.contributor.authorSequeiros, J
dc.contributor.authorMaciel, P
dc.date.accessioned2015-11-11T11:41:16Z
dc.date.available2015-11-11T11:41:16Z
dc.date.issued2011
dc.description.abstractBackground: 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.pt_PT
dc.identifier.citationBrain Develop. 2011 Jan; 33 (1): 69-76pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2335
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier Inc.pt_PT
dc.subjectMutationpt_PT
dc.subjectPhenotypept_PT
dc.subjectMethyl-CpG-Binding Protein 2/*geneticspt_PT
dc.subjectRett Syndrome/geneticspt_PT
dc.subjectRett Syndrome/diagnosispt_PT
dc.subjectRett Syndrome/physiopathologypt_PT
dc.subjectHumanspt_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectAdolescentpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleRett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine Phenotypespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage76pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage69pt_PT
oaire.citation.volume33pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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