Neuropediatrics 2006; 37 - TP106
DOI: 10.1055/s-2006-945700

STEREOTYPIES IN RETT SYNDROME – ANALYSIS OF 65 PORTUGUESE PATIENTS

T Temudo 1, MJ Santos 1, K Dias 1, A Moreira 1, JP Vieira 1, G Olivieira 1, E Calado 1, C Barbot 1, A Levy 1, I Carrilho 1, MJ Fonseca 1, A Dias 1, N Lobo Antunes 1, P Cabral 1, JP Monteiro 1, R Gomes 1, C Barbosa 1, G Andrada 1
  • 1Porto, Portugal

Objectives: Rett syndrome (RS) was discovered by Andreas Rett, when he noticed that two girls who were waiting for his consultation presented the same movement disorder: hand stereotypies. Hand stereotypies are the hallmark of RS and they emerge when purposeful hand use is lost. Behind hand stereotypies there are also other type of stereotypies involving other parts of the body (personal observation): head rolling, eye rolling, trunk rocking, intermittent leg elevation and tapping of the floor, toe walking, and swaying movements of all the body with shifting weight from one leg to the other, feet wringing. Stereotypies can also be very complex in the beginning of the disease, some girls exhibiting like a “stereotyped dance” (personal observation). Methods: We analised stereotypies in 65 patients who fullfill the revised diagnostic criteria for RS. All the patients were videotaped and stereotypies were classified based on the video and the information registered on the database.

Results: The age at observation ranged between 1.5 year and 32 years and 61% were classified as classical forms. In 64/65 DNA study was performed and 60% had MECP2 mutations (32 classical, 3 congenital and 4 preserved speech forms). All the patients have hand stereotypies: 80% hand washing and the remaining other type of stereotypies. The rate of MEcP2 mutations was the same in both groups. Some stereotypies behind hand washing seem to be quite specific of this syndrome: hair pulling with one hand (7/7 with MECP2 mutations), body balance with shifting of body weight (3/3 with MECP2 mutations), intermittent leg elevation and tapping of the floor (3/3 with MECP2 mutations) and intermittent toe walking (4/4 with MECP2 mutations). One girl with a MECP2 mutation has symmetrical feet stereotypies.

Conclusion: We conclude that behind hand washing other type of manual stereotypies or stereotypies involving other body parts may appear in RS and that some of them seem to be specific of this condition.