What is Rett syndrome?
Rett syndrome is a rare genetic neurological disorder that primarily affects girls and leads to severe challenges in physical and cognitive development.
Children with Rett syndrome usually develop as usual for the first 6 to 18 months of life, but then begin to lose skills they previously gained, such as speaking, purposeful hand movements, and motor abilities.
What causes Rett syndrome?
Rett syndrome is caused by a mutation in the MECP2 gene which is found on the X Chromosome.
The mutation in this gene prevents the brain from working properly. It isn’t hereditary and can happen spontaneously.
What are the symptoms of Rett syndrome?
The symptoms of Rett syndrome vary from child to child, some children can be affected more than others. Symptoms can also change the older they get.
The symptoms tend to happen in four stages:
- Stagnation – feeding problems, repetitive hand movements, speech delays, problems with mobility.
- Regression – severe communication problems, severe memory problems, severe mobility problems, slowing of head growth.
- Plateau – Although some symptoms from previous stages might improve, the child may experience seizures, irregular breathing, difficulty gaining and maintaining weight.
- Deterioration in movement – development of scoliosis, muscle weakness, inability to walk.
Stage 4 can last for years and may see symptoms from previous stages improve.
Rett syndrome is a life-limiting condition with no current cure. However, advances in medical care and supportive therapies mean that individuals with the condition are now living longer than in past decades, with specialised care and interventions helping to improve their quality of life.
