Preparing for your appointmentBy Mayo Clinic staff
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.
What you can do
Take these steps to prepare:
- Make a list of any unusual behavior or other signs. The specialist will examine your child carefully and watch for slowed growth and development, but your daily observations are very important.
- Make a list of any medications that your child takes. Include any vitamins, herbs and over-the-counter medicines.
- If possible, bring a family member or friend with you. A trusted companion can help you remember information and provide emotional support.
- Make a list of 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?
- 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:
- When did you first notice your child's unusual behavior or other signs that something may be wrong?
- 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?
- What could your child do before that she or he can no longer do?
- Schultz RJ, et al. Rett syndrome. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
- Smeets EE, et al. Rett syndrome. Molecular Syndromology. 2012;2:113.
- Rett syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed Aug. 27, 2012.
- Disorders usually first diagnosed in infancy, childhood or adolescence. In: Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. 4th ed. Arlington, Va.: American Psychiatric Association; 2000. http://www.psychiatryonline.com. Accessed Aug. 28, 2012.
- Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed Sept. 11, 2012.
- Neul JL, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology. 2010;68:944.
- Lotan M. Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
- Percy AK. Rett syndrome: Exploring the autism link. Archives of Neurology. 2011;68:985.