At present, there is no cure for Rett syndrome. People with this condition spend most of their lives in what is referred to as stage three of the disease, which usually begins between age two and ten years. This stage is typically characterized by poor limb control and difficulty walking; teeth grinding and abnormal tongue movements and difficulty handling and manipulating objects.
However, compared with stage two of the disease, some symptoms may seem to improve, with the child possibly becoming less irritable, more alert and developing more of an interest in their surroundings and the people around them. There may also be an improvement in walking ability.
During stage four of the disease the majority of sufferers become completely dependent on care, which they require 24 hours a day. Conditions such as arrhythmia can significantly shorten lifespan but many women do survive into middle age and older.
There is no cure for Rett syndrome and because symptoms can be difficult to manage, children may require help from a variety of professionals. Some of the therapeutic approaches to managing this illness are described below.
- Anti-epileptic medications may be required to treat and prevent seizures.
- Individuals with Rett syndrome often have trouble gaining and maintaining a healthy weight. A high-calorie diet may be required and a feeding tube (or other feeding aid) may also need to be used.
- Long QT syndrome may develop, which can lead to irregular heart rhythms. Treatments to correct this problem include implantation of a pacemaker and the use of beta-blockers.
- For some patients, antidepressants and antipsychotic medications may be prescribed for mood changes, depression, panic attacks or irritability.
- Speech therapy helps the patient communicate better with their family and care-givers.
- Sleep aids may be needed.
- Physical therapy can help with limb spasticity and poor movement control.
- Scoliosis (bending of the spine) may require surgery, which is often followed up with physiotherapy.
- Occupational therapy can help sufferers develop the skills they need to dress and feed themselves, for example.
- A lower leg brace may be required to aid independent walking and a splint can help control hand movements.
- Other therapies these patients may find beneficial include sports therapy, hydrotherapy, and music therapy.
Reviewed by Sally Robertson, BSc