Rett Syndrome is a rare genetic disorder which affects approximately 1 in 12,000 females but is rarely seen in boys.
Starting in early childhood, it causes severe physical and mental disabilities.
The initial stages of Rett Syndrome can begin from 6 months old. In this stage, the service user may seem slow in development, have difficulty feeding and show unusual hand movements, such as repetitive motions. In addition, they may show a lack of interest in socialising, toys or making eye contact.
The second stage is known as regression and during this period which often occurs between the ages of 1 and 4 years old, the service user may be extremely distressed, lose interest in socialising and people and may show that their co-ordination, language and communication have regressed or deteriorated. They may also have difficulty with breathing, sleeping and with their digestion.
After this period, they may stay in the same condition for several years, until entering the third stage where they may find difficulty in moving due to floppiness or loss of muscle tone, may lose weight and can be at risk of developing epilepsy. However, in contrast to the second stage, there may be an improvement in their behaviour with less irritability, an interest in socialising and their surroundings and an improvement in their attention span.
In the fourth stage and final stage, a range of physical disabilities are likely to present, including a bend in the spine, a loss of motor functions and additional seizures.
Rett Syndrome is caused by a mutation in DNA which is why it is more often than not only seen in girls. It can be diagnosed by a blood test which will confirm whether the genetic mutation exists.
Care for Rett Syndrome
As there is no cure for Rett Syndrome, many parents and families are left to care for the symptoms and support their loved one through the various stages.
Platinum Care at Home are fund-raisers for a Retts Syndrome charity. More information on the charity can be found by following this link.