Diagnosing Rett syndrome

In most cases, genetic testing is used to diagnose Rett syndrome, but diagnostic testing, using symptoms and signs is also used; doctors will usually examine the child thoroughly, monitor their behaviour and development, measure their head circumference and watch how they move and communicate during the diagnostic process.

Initially, children tend to develop at a normal pace and it can be difficult to notice the early warning signs; parents are urged to look out for a lack of eye contact and a lack of interest in toys, people and the general environment around the child.

If you notice changes in your child’s behaviour or you see signs of the symptoms of Rett syndrome, arrange to see your doctor as soon as possible; they will run some initial tests and carry out an examination and they may refer your child to a paediatrician. During the appointment, they may ask you several questions about your child’s development and behaviour, about medication they may be taking and your family history.

Rett Syndrome

• Rett Syndrome
• What causes Rett syndrome?
• Diagnosing Rett syndrome
• What are the symptoms of Rett syndrome?
• What are the effects of Rett syndrome?

• How is Rett syndrome treated?
• What is the outlook for people with Rett syndrome?
• Help for patients and carers