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:
Oct. 04, 2012
- 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.
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