Rett syndrome is a very rare disorder in which a baby develops normally for the first 6 months before having symptoms. It almost always affects females.
Rett syndrome may also be called a pervasive developmental disorder, because a child who has it does not develop normally in several ways.
Rett syndrome is a lifelong, disabling condition. Most women with Rett syndrome will need a wheelchair and most live at least into their 40s.
Rett syndrome is caused by problems with the MECP2 gene. Because of the damage to this gene, some parts of the brain tend to be smaller than normal in girls with Rett syndrome. What damages this gene is not known.
Rett syndrome develops in stages. From birth to about 6 months of age, the development and head size of a child with Rett's appear normal. Between 6 to 18 months of age, your child may start having symptoms such as:
Your healthcare provider will ask about your child's development at each well child visit. Tell your provider about any concerns you have and any behavior that seems unusual. As a parent or caregiver, you are usually the first to notice unusual behaviors in your child. Do not ignore problems, thinking that your child is just a little slow and will "catch up." Early treatment helps reduce symptoms. It increases your child's ability to grow and learn new skills.
Your child's healthcare provider will examine your child and ask about your child's symptoms and your family history of any medical and mental problems. A simple blood test can confirm the diagnosis. Your child's healthcare provider may recommend genetic testing.
If your healthcare provider thinks your child may have Rett syndrome, he or she will refer you to specialists such as a psychologist, psychiatrist, speech therapist, or neurologist. They can do more testing and advise you about treatment. Your school district may also provide testing services for your child.
A treatment plan for Rett syndrome may include medicine for some of the symptoms and physical and speech therapy to improve skills.
In many cases, families are unable to care for a child with Rett syndrome without help. In some cases, home healthcare may enable the child to keep living at home. In other cases, the child may be placed in a supervised living facility.