In the first six months, a child with Rett Syndrome will usually develop and grow normally although later, subtle signs of Rett Syndrome may be recognized in hindsight. Early signs usually appear within the first 6-18 months, including: – Low muscle tone (hypotonia) – Difficulty feeding – Unusual, repetitive hand movements or jerky limb movements – Delay with development of speech – Mobility problems, such as problems sitting, crawling and walking – Lack of interest in toys
Between the ages of one and four, a child with Rett Syndrome will lose some of their abilities. The child will gradually or suddenly start to develop severe problems with communication and language, memory, hand use, mobility, coordination and other brain functions. Symptoms include: – Loss of purposeful hand use – Repetitive hand movements, including wringing, washing, clapping or tapping – Periods of distress, irritability, agitation, screaming for no obvious reason – Loss of interest in people and avoiding eye contact – Unsteady or awkward walking pattern – Difficulty sleeping – Difficulty chewing and swallowing typical size/texture food for their age – Constipation, causing stomach aches and distress – Slowing of head growth compared to typical peers
Later on, a child may experience periods of rapid breathing (hyperventilation) or slow breathing, including breath-holding. They may also swallow air which can lead to abdominal bloating.
Although rare, boys can also have Rett Syndrome. There are several specific genetic scenarios that can happen which you can read more about here. The good news is that almost all the research we support is applicable to boys as well as girls.
A Rett Syndrome diagnosis is devastating but you are not alone. Fellow parents have identified some key questions they had before, during and after their child’s diagnosis.
Practical information and resources to help keep children and adults with Rett Syndrome healthy until treatments and a cure become available.