Your child's doctor will look for developmental problems at regular checkups. If your child shows any symptoms of Rett syndrome, she or he will likely be referred to a pediatric neurologist or developmental pediatrician for testing and diagnosis.
Here's some information to help you get ready for your child's appointment. If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.
What you can do
Before your appointment, make a list of:
- Any unusual behavior or other signs. The doctor will examine your child carefully and watch for slowed growth and development, but your daily observations are very important.
- Any medications that your child takes. Include any vitamins, herbs and over-the-counter medicines or supplements, and their doses.
- Questions to ask your child's doctor. Don't be afraid to ask questions when you don't understand something. If you run out of time, ask to speak with a nurse or physician assistant, or leave a message for the doctor.
For Rett syndrome, questions to ask might include:
- Why do you think my child does (or doesn't) have Rett syndrome?
- Is there a way to confirm the diagnosis?
- What are other possible causes of my child's symptoms?
- If my child does have Rett syndrome, is there a way to tell how severe it is?
- What changes can I expect to see in my child over time?
- Can I take care of my child at home or will I need to look for outside care or additional in-home support?
- What kind of special therapies do children with Rett syndrome need?
- How much and what kinds of regular medical care will my child need?
- What kind of support is available to families of children with Rett syndrome?
- How can I learn more about this disorder?
- What are my chances of having other children with Rett syndrome?
What to expect from your doctor
Your doctor may ask you questions such as:
Sept. 17, 2015
- When did you first notice your child's unusual behavior or other signs that something may be wrong?
- What could your child do before that she or he can no longer do?
- How severe are your child's signs and symptoms? Are they getting progressively worse?
- What, if anything, seems to improve your child's symptoms?
- What, if anything, appears to worsen your child's symptoms?
- Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed Aug. 3, 2015.
- Rett syndrome. National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/rett-syndrome/. Accessed Aug. 3, 2015.
- Rett syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed Aug. 3, 2015.
- Schultz RJ, et al. Rett syndrome. http://www.uptodate.com/home. Accessed Aug. 3, 2015.
- Lotan M. Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
- Rett syndrome: Condition information. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/rett/conditioninfo/Pages/default.aspx. Accessed Aug. 5, 2015.
- Symons FJ, et al. Parent-reported pain in Rett syndrome. Clinical Journal of Pain. 2013;29:744.
- Byiers BJ, et al. Seizures and pain uncertainty associated with parenting stress and Rett syndrome. Journal of Child Neurology. 2014;29:526.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 17, 2015.
- Tervo RC (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 28, 2015.