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Stereotypies in Rett Syndrome

Stereotypies are one of the major features of Rett syndrome and one of its necessary diagnostic criteria. The criteria do not specify when in the disease process the stereotypies occur, and although they are most commonly noted with the period of decreasing purposeful hand movements, or immediately after this period they can also occur very early on in the disease process when developmental regression is beginning. In fact, although early development in girls with Rett syndrome is generally considered normal, a study of videos of infant girls who later developed RS showed stereotypical hand movements in 42% [Einspieler: 2005].
Stereotypies can be defined as continuous involuntary purposeless coordinated movements that disappear in sleep,. They can occur in many parts of the body, but in Rett syndrome are most commonly seen in the hands. They do not change in frequency with changes in the environment.
A study in 2007 [Temudo: 2007] looked at girls positive and negative for the MECP2 mutation. Although the most common stereotypy was the classic midline handwringing, stereotypies off mid-line with a single hand were also common. Some girls looked at their hands when moving them, others did not. Bruxism, hair pulling, and cervical retropulsion were also common stereotypies. In general, stereotypies decreased after the girls got older. The mean age of stereotypy appearance was shortly before age two, and most girls started exhibiting stereotypies during the period of loss of purposeful hand movements. There were some differences between the girls positive and negative for the MECP2 mutation in age at appearance of stereotypies, number of different stereotypies and others.
The pathophysiology of stereotypies is not known, and there is conjecture that the stereotypies themselves contribute to the loss of purposeful hand movements [Temudo: 2007].

Authors

Author: Lynne M Kerr, MD, PhD - 1/2009
Reviewing Author: Karin Dent, MS, CGC - 1/2009

Page Bibliography

Einspieler C, Kerr AM, Prechtl HF.
Abnormal general movements in girls with Rett disorder: the first four months of life.
Brain Dev. 2005;27 Suppl 1:S8-S13. PubMed abstract

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, Santos M, Sequeiros J, Maciel P.
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Neurology. 2007;68(15):1183-7. PubMed abstract