By Dr Ananya Mandal, MD
The symptoms of Rett syndrome often go undetected during the initial few months of a child’s life because any deviation form normal development is so subtle. Children are not usually diagnosed with the condition until between six and 18 months of age, when symptoms have progressed and become a little more obvious.
The symptoms of Rett syndrome can be divided into four stages and these are outlined below.
Stage one symptoms are those that typically arise during six to 18 months and they include the following:
- General delayed development
- Difficulty feeding
- Lack of interest in toys
- Repeated clapping or wringing motion of the hands
- Poor coordination
Also referred to as the “regression stage,” this stage usually occurs between one and four years of age and can last for months. The child begins to develop severe problems with movement, coordination, learning skills and communication. Symptoms include the following:
- Unexplained irritability and screaming
- Lack of eye contact and disinterest in people
- Increased or slowed breathing
- Sleep problems
- Small head size
- Difficulty chewing and swallowing
- Abdominal pain and constipation
- Repetitive, uncontrolled hand movements
This stage of Rett syndrome usually starts between the ages of two and 10 years and some of the main symptoms are:
- Floppy limbs (hypotonia) and difficulty walking
- Difficulty using hands to manipulate objects
- Repetitive hand movements
- Teeth grinding
- Abnormal tongue movements
However, some symptoms may also start to improve during the third stage of the disease, with the child possibly becoming less irritable, more alert and developing more of an interest in their surroundings and the people aorund them. There may also be an improvement in walking ability. This is the stage of disease that girls stay in for most of their lives.
During stage four of the disease, the main symptoms are:
- Bending of the spine to one side (scoliosis)
- Spasticity, particularly in the legs
- Inability to walk.
Although some girls may retain some control over their hand movements and ability to walk and communicate, the majority become completely depended 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.
Reviewed by Sally Robertson, BSc
Last Updated: Nov 5, 2014