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Preparing for your appointment
By Mayo Clinic staffCall your doctor if your baby or child isn't reaching expected developmental milestones or has any other signs or symptoms common to Angelman syndrome. After your initial appointment, you may be referred to a doctor who specializes in the diagnosis and treatment of conditions that affect the brain and nervous system (neurologist).
Here's some information to help you get ready for your appointment and to know what to expect from your doctor.
What you can do
- Write down any signs or symptoms you've noticed in your child, and for how long.
- Bring baby books and other records of your child's development. Photographs and video recordings can be helpful.
- Make a list of your child's key medical information, including other conditions for which your child is being treated and the names of any medications, vitamins or supplements that he or she is taking.
- Ask a trusted 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 take in all the information.
- Write down questions to ask your doctor. Creating your list of questions in advance can help you make the most of your time with your doctor.
Questions to ask your child's doctor at the initial appointment include:
- What is likely causing my child's signs and symptoms?
- Are there any other possible causes for these symptoms?
- What kinds of tests does my child need?
- Should my child see a specialist?
Questions to ask if you're referred to a specialist include:
- Does my child have Angelman syndrome?
- What are the possible complications of this condition?
- What therapies are available for this condition?
- What treatment approach do you recommend?
- What is the long-term outlook for my child?
- What is the developmental potential for a person with Angelman syndrome?
- How often will you see my child to monitor his or her ongoing health and development?
- Are my other children or family members at increased risk of this condition?
- Should I or my child be tested for the genetic mutations associated with this condition?
- What other types of specialists should my child see?
- How can I find other families who are coping with Angelman syndrome?
Don't hesitate to ask any other questions that occur to you.
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. Being ready to answer them may reserve time to go over any points you want to talk about in-depth. The doctor may ask:
- What are your child's signs and symptoms?
- When did you first notice these signs and symptoms?
- Is your child having problems with nursing or feeding?
- Is your child reaching the physical milestones that are expected for his or her age?
- Have you noticed any problems with balance, coordination or movement that seem unusual compared with your child's peers?
- Does your child seem to laugh, smile or express excitement more often than his or her peers?
- Does your child express excitement with unusual physical behaviors, such as flapping his or her hands?
- Does your child communicate verbally, either with babbling or cooing or — in older babies and children — with words?
- Does your child have a normal daily rhythm of sleeping and waking?
- Has your child had any 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?
- Do you have support from a partner or family to help with a child with special needs?
- NINDS Angelman syndrome information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/angelman/angelman.htm. Accessed Sept. 22, 2011.
- Angelman syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=angelmansyndrome. Accessed Sept. 22, 2011.
- Dagli AI, et al. Angelman syndrome. In: Pagon RA, et al. GeneReviews. Seattle, Wash.: University of Washington; 2011. http://www.ncbi.nlm.nih.gov/books/NBK1144/?report=printable. Accessed Sept. 23, 2011.
- Diagnostic testing. Angelman Syndrome Foundation. http://www.angelman.org/healthcare-professionals/diagnostic-testing/. Accessed Sept. 22, 2011.
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