Preparing for an appointment

Call your doctor if your baby or child isn't reaching expected developmental milestones or has other signs or symptoms common to Angelman syndrome. Your doctor may then refer you to a doctor who specializes in conditions that affect the brain and nervous system (neurologist).

Here's some information to help you get ready for your appointment.

What you can do

• Write down signs or symptoms you've noticed in your child, and for how long they've been occurring.
• Bring baby books and other records of your child's development to the appointment. Photographs and video recordings can be helpful.
• List your child's key medical information, including other conditions for which your child is being treated, and the names of medications, vitamins or supplements that he or she takes.
• Ask a family member or friend to join you for your child's appointment. If your child's doctor mentions the possibility of a developmental disorder, you may have great difficulty focusing on anything the doctor says next. Take someone along who can offer emotional support and can help you remember the information.
• Write down questions to ask your doctor.

Questions to ask your child's doctor include:

• What is likely causing my child's signs and symptoms?
• Are there other possible causes for these signs and symptoms?
• What tests does my child need?
• Should my child see a specialist?

Questions to ask a specialist include:

• Does my child have Angelman syndrome?
• What are the possible complications of this condition?
• What therapies are available?
• What treatment do you recommend?
• What is the long-term outlook for my child?
• Should my child or I be tested for the genetic mutations associated with this condition?
• What other specialists should my child see?
• How can I find other families who are coping with Angelman syndrome?

Don't hesitate to ask other questions, as well.

What to expect from your doctor

A doctor who sees your child for possible Angelman syndrome is likely to ask you a number of questions, such as:

• What are your child's signs and symptoms and when did you notice them?
• Does your child have feeding problems?
• Is your child reaching the expected, age-related physical milestones?
• Have you noticed problems with balance, coordination or movement?
• Does your child laugh, smile or express excitement more often than his or her peers?
• Does your child express excitement with unusual physical behaviors, such as hand flapping?
• Does your child communicate verbally?
• How well does your child sleep?
• Has your child had seizures? If so, how often?
• Have any of your child's first-degree relatives — such as a parent or sibling — been diagnosed with Angelman syndrome?