Rett syndrome

Academic Article

Abstract

  • © Anästh Intensivmed 2018. Rett syndrome is a rare inherited neurodevelopmental disease originally described by Andreas Rett in 1966, which occurs mostly in girls [1] and causes developmental and nervous system problems. Genetically, Rett syndrome results from mutations in the genes encoding methyl-cytosine-guanosine (CpG) binding protein 2 (MECP2) located on the X chromosome. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it [2]. Affected individuals have clinical features that overlap with autism. Infants with Rett syndrome seem to grow and develop normally in the early months. However, between 6 and 18 months and 3 years of age development stagnates and they begin to lose previously attained skills.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Pubmed Id

  • 13959084
  • Author List

  • Maheshwari N; Christodoulou J; Percy A
  • Start Page

  • S117
  • End Page

  • S124
  • Volume

  • 59
  • Issue

  • 4