title: Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
abstract: 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.
authors.affiliation: Unidade de Neuropediatria, Serviço de Pediatria, Hospital de Santo António, SA, Largo Abel Salazar, Porto, Portugal. teresatemudo@netcabo.pt
authors.forename: T
authors.initials: T
authors.lastname: Temudo
authors.forename: P
authors.initials: P
authors.lastname: Oliveira
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: K
authors.initials: K
authors.lastname: Dias
authors.forename: J
authors.initials: J
authors.lastname: Vieira
authors.forename: A
authors.initials: A
authors.lastname: Moreira
authors.forename: E
authors.initials: E
authors.lastname: Calado
authors.forename: I
authors.initials: I
authors.lastname: Carrilho
authors.forename: G
authors.initials: G
authors.lastname: Oliveira
authors.forename: A
authors.initials: A
authors.lastname: Levy
authors.forename: C
authors.initials: C
authors.lastname: Barbot
authors.forename: M
authors.initials: M
authors.lastname: Fonseca
authors.forename: A
authors.initials: A
authors.lastname: Cabral
authors.forename: A
authors.initials: A
authors.lastname: Dias
authors.forename: P
authors.initials: P
authors.lastname: Cabral
authors.forename: J
authors.initials: J
authors.lastname: Monteiro
authors.forename: L
authors.initials: L
authors.lastname: Borges
authors.forename: R
authors.initials: R
authors.lastname: Gomes
authors.forename: C
authors.initials: C
authors.lastname: Barbosa
authors.forename: G
authors.initials: G
authors.lastname: Mira
authors.forename: F
authors.initials: F
authors.lastname: Eusébio
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: J
authors.initials: J
authors.lastname: Sequeiros
authors.forename: P
authors.initials: P
authors.lastname: Maciel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence; D015518:Rett Syndrome / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D019956:Stereotypic Movement Disorder / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2