Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations

Title

Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations

Creator

Temudo T; Oliveira P; Santos M; Dias K; Vieira J; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Barbot C; Fonseca M; Cabral A; Dias A; Cabral P; Monteiro J; Borges L; Gomes R; Barbosa C; Mira G; Eusebio F; Sequeiros J; Maciel P

Publisher

Neurology

Date

2007

Subject

Neurosciences & Neurology; behaviors; hand movements; regression; normal human infants; stage; tone and motor problems; Rett syndrome; trajectory; characteristics; hair pulling; stereotypy

Description

Background: Hand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized. Methods: We analyzed stereotypies in 83 patients with RTT, 53 with and 30 without a mutation detected in the MECP2 gene. Patients were observed and videotaped always by the same pediatric neurologist. Stereotypies were classified, and data were submitted to statistical analysis for comparison of mutation-positive and -negative patients and analysis of their evolution with the disease. Results: All the patients showed hand stereotypies that coincided with or preceded the loss of purposeful hand movements in 62% of the patients with MECP2 mutations. The hair pulling stereotypy was more frequent in the group with detected mutations, whereas hand washing was not. Hand gaze was absent in all RTT patients with MECP2 mutations. Patients with MECP2 mutations also had more varied stereotypies, and the number of stereotypies displayed by each patient decreased significantly with age in this group. In all patients, stereotypies other than manual tended to disappear with the evolution of the disease. Conclusions: Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group. In patients younger than 10 years and meeting the necessary diagnostic criteria of Rett syndrome, the association of hand stereotypies without hand gaze, bruxism, and two or more of the other stereotypies seemed to be highly indicative of the presence of an MECP2 mutation.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation

Temudo T; Oliveira P; Santos M; Dias K; Vieira J; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Barbot C; Fonseca M; Cabral A; Dias A; Cabral P; Monteiro J; Borges L; Gomes R; Barbosa C; Mira G; Eusebio F; Sequeiros J; Maciel P, “Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations,” Pediatric Palliative Care Library, accessed November 29, 2021, https://pedpalascnetlibrary.omeka.net/items/show/16826.

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