The Rett Syndrome Association of Ireland

What is Rett Syndrome

Rett syndrome is a rare neurodevelopmental disorder resulting in physical and intellectual disability. It affects girls almost exclusively Рaffecting one in ten thousand births Рbut there are rare cases of boys with Rett Syndrome. Everyone affected is severely and multiply disabled. It is characterised by normal early development followed a period of regression where skills are lost. However, Rett Syndrome is not a degenerative condition. Lifelong learning is possible, though difficult. Rett Syndrome is usually diagnosed with a genetic test (based on a blood test) as well as through clinical diagnosis.

Rett Syndrome is caused in most cases by a random mutation or alteration of the MECP2 gene on the X chromosome. It is usually spontaneous and rarely inherited.

Features Of Rett Syndrome

As with any condition there is a large amount of variation in people with Rett Syndrome. However some characteristics can be identified:

  • Children with demonstrate an apparently normal rate of development up to the age of 20 to 30 months.
  • This is followed by a regression period where motor and communication skills that have been acquired degenerate.
  • Apraxia or dyspraxia – the ability of the body to perform motor functions – lead to a loss of verbal skills and hand function.
  • Some lose the ability to walk
  • Stiff or clumsy posture and gait
  • Disorganised breathing patterns
  • Seizures occur in many
  • Scoliosis (curvature of the spine) often with early onset.
  • Repetitive and stereotypical hand movements such as hand winging or hand-mouthing