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 Volume 68, Number 15, April 10, 2007
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NEUROLOGY 2007;68:1183-1187
© 2007 American Academy of Neurology
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Stereotypies in Rett syndrome

Analysis of 83 patients with and without detected MECP2 mutations

T. Temudo, MD, P. Oliveira, PhD, M. Santos, BSc, K. Dias, MD, J. Vieira, MD, A. Moreira, MD, E. Calado, MD, I. Carrilho, MD, G. Oliveira, MD, PhD, A. Levy, MD, C. Barbot, MD, M. Fonseca, MD, A. Cabral, MD, A. Dias, MD, P. Cabral, MD, J. Monteiro, MD, L. Borges, MD, R. Gomes, MD, C. Barbosa, MD, G. Mira, MD, F. Eusébio, MD, M. Santos, MD, J. Sequeiros, PhD, MD and P. Maciel, PhD

From the Unidade de Neuropediatria (T.T.), Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal; Departamento de Produção e Sistemas (P.O.), Escola de Engenharia, Universidade do Minho, Guimarães, Portugal; Instituto de Investigação em Ciências da Vida e da Saúde (M.S., P.M.), Escola de Ciências da Saúde, Universidade Minho, Braga, Portugal; Departamento de Estudos de Populações (M.S., J.S.), ICBAS, Universidade do Porto, Portugal; Serviço de Neuropediatria (K.D., J.V., A.M., E.C., A.D.), Hospital Dª Estefânia, Lisboa, Portugal; Serviço de Neuropediatria (I.C., C. Barbot, M.S.), Hospital de Crianças Maria Pia, Porto, Portugal; Centro de Neuropediatria (G.O., A.C., L.B.), Hospital Pediátrico, Coimbra, Portugal; Serviço de Pediatria (A.L., F.E.), Hospital Santa Maria, Lisboa, Portugal; Serviço de Pediatria (M.F., J.M.), Hospital Garcia da Horta, Almada, Portugal; Serviço de Neurologia (P.C.), Hospital Egas Moniz, Lisboa, Portugal; Serviço de Pediatria (R.G., C. Barbosa), Hospital Pedro Hispano, Matosinhos, Portugal; and Serviço de Pediatria (G.M.), Hospital Espírito Santo, Évora, Portugal; UnIGENe (J.S.), IBMC, Porto, Portugal.

Address correspondence and reprint requests to Dr. Teresa Temudo, Unidade de Neuropediatria, Serviço de Pediatria, Hospital de Santo António, SA, Largo Abel Salazar, 4099/001 Porto, Portugal; e-mail: teresatemudo{at}netcabo.pt

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 10 issue to find the title link for this article.

Research on RTT is supported by FSE/FEDER and Fundação para a Ciência e Tecnologia (FCT), Portugal, grant POCTI 41416/2001. M.S. is the recipient of a PhD fellowship by FCT (SFRH/BD/9111/2002).

Disclosure: The authors report no conflict of interest.

Received June 21, 2006. Accepted in final form November 29, 2006.




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