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.
- 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?
Feb. 07, 2017
- NINDS Angelman syndrome information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/angelman/angelman.htm. Accessed Nov. 7, 2016.
- National Library of Medicine. Angelman syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/angelman-syndrome. Accessed Nov. 7, 2016.
- Angelman syndrome diagnostic criteria. Angelman Syndrome Foundation. http://www.angelman.org/understanding-as/medical-info/diagnostic-criteria/. Accessed Nov. 7, 2016.
- Pagon RA, et al., eds. Angelman syndrome. In: GeneReviews. Seattle, Wash.: University of Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Nov. 7, 2016.
- Bailus BJ, et al. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. BMC Neuroscience. 2014;15:76.
- Angelman syndrome diagnostic testing. Angelman Syndrome Foundation. https://www.angelman.org/what-is-as/medical-information/diagnostic-testing/. Accessed Nov. 13, 2016.
- Buiting K, et al. Angelman syndrome — Insights into a rare neurogenetic disorder. Nature. 2016;12:584.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 22, 2016.