Hft | Learning disabilities and other challenges | Rett syndrome

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What is Rett syndrome?

Rett syndrome is a rare disorder caused by a DNA change in the MECP2 gene which is found on the X chromosome.  The vast majority of people with Rett syndrome are female, though a small number of males have the syndrome. Rett syndrome is not inherited, and though occasionally incorrectly identified as autism during the early phases of regression, it is not an Autism Spectrum Disorder. It can usually be identified through a blood test.

People with the condition will have profound and multiple learning disabilities, and will likely be dependent on 24 hour care throughout their lives. With an appropriate care plan however, they can be supported to live the best life possible.

Phases of Rett syndrome

Indicators can vary, and can affect people to differing degrees. However, the syndrome progresses through a number of phases: –

  • Rett syndrome affects brain development and is usually identified in infancy (Early signs phase) somewhere between six months and 18 months old, when development slows down significantly for a period of months – though this can go unnoticed.
  • During the next phase of Rett syndrome (Regression) affected children lose some of their abilities. They may display problems with communication, memory, mobility, and co-ordination, including the ability to use their hands with purpose. Children may show signs of distress, such as irritability, or screaming for no reason. They may also display behaviours often associated with autism, such as avoidance of eye contact, or of other people.

They may show unsteadiness in walking, difficulty in eating, chewing and swallowing, experience constipation and stomach aches, problems sleeping, and growth of the head may slow.

In later stages of regression, children may breath very rapidly, or slowly – including holding their breath. They may also swallow air, resulting in bloating.

Regression can last anywhere between two months to two years plus.

  • Phase three is known as ‘Plateauing’ and can last for many years – indeed, some people will remain in this phase for most of their lives. During the plateau phase, some improvements may occur, including improvements in behaviour, with less crying/irritability. Walking may improve, as might concentration, communication and awareness.

Seizures may become common however, and breathing problems may become worse. Some people may develop heart problems, and weight gain/maintenance can become difficult.

  • Phase four of Rett syndrome progression results in deterioration in movement, and can last for years. The most common symptoms are development of curvature of the spine, muscle weakness, and loss of the ability to walk.

Support for people with Rett syndrome

  • Hft supports adults with learning disabilities including those with Rett syndrome to live the best life possible. Contact your local service to discuss support options.
  • If you’re a family carer for someone with Rett syndrome, Hft’s Family Carer Support Service can help with guidance and advice on support options and some of the benefits that are available.
  • Rett UK provides more information and guidance for people with Williams syndrome, and their families.
  • NHS Choices provides a range of information and links to further useful resources.