Rett syndrome from a family perspective: The Swedish Rett Center survey

Brain Dev. 2005 Nov:27 Suppl 1:S14-S19. doi: 10.1016/j.braindev.2005.03.015. Epub 2005 Sep 22.

Abstract

The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Rett syndrome in Sweden in 1997 provided us with families' description of early development in gross motor function, fine motor function and communication/social interplay. Best abilities before regression were presented, 62% lost their best abilities, 22% kept them and 5% kept them with deterioration. Seventy-three percent learnt to walk, 20% stopped walking and 2% retrained walking. Concerning feeding, 69% learnt to feed themselves, 57% lost this ability, 7% retrained the ability and 5% learnt to feed after regression. Sixty-four percent were one year or younger when there was a deviation in development. Sixty answers reported the girl was late in developing functions while 35 reported sudden loss of reached abilities. Seventy-four percent developed a scoliosis and 83% reported other deformities; of these, deformities in feet were the most common. Postural control was poor since all but 15 girls/women learnt in different directions when sitting. Transitional movements were difficult to perform. In 80% of cases, the families were those who suspected early that something was wrong in the child's development. Because of this it is essential that medical staff is aware of the different ways RS develops in order to give families early appropriate support and a plan for intervention. Since there is not only loss of function in this group but also kept abilities, retrained abilities and abilities achieved after regression, more research has to be focused on management and treatment to help persons with Rett syndrome keep and develop abilities according to their individual resources.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activities of Daily Living*
  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Communication Disorders / etiology
  • Data Collection
  • Demography
  • Family Health*
  • Feeding Behavior / physiology
  • Female
  • Humans
  • Middle Aged
  • Movement Disorders / etiology
  • Needs Assessment
  • Respiration Disorders / etiology
  • Retrospective Studies
  • Rett Syndrome / diagnosis
  • Rett Syndrome / epidemiology*
  • Rett Syndrome / genetics
  • Rett Syndrome / physiopathology*
  • Surveys and Questionnaires
  • Sweden / epidemiology
  • Walking / physiology