15q Duplication Syndrome
Le Bonheur is home to one of a handful of clinics dedicated to Duplication 15q syndrome caused by various duplications chromosome 15q.
We care for children with Duplication 15q and its related conditions including:
• Sleep problems (falling asleep, staying asleep, snoring, etc.)
• Gastroenterologic problems (feeding, vomiting and eating problems)
Our clinic is the first of the Duplication 15q Consortium Clinics to use web-based questionnaires to assess and direct patient visits. Our goal is to collect information in a systematic manner to allow for analysis and development of future targeted treatments both at Le Bonheur and across the country.
We take pride in providing the very best care for your child. It is important to us that you feel good about your child’s care and that you better understand your child’s condition so that we can work together to improve and optimize your child’s functioning.
There are many resources at Le Bonheur Children’s Hospital for our patients including:
- Neurophysiology laboratory
- Epilepsy Monitoring Unit
- Pediatric Sleep Center
- Magnetic Resonance Imaging
- Transcranial Magnetic Stimulation
Our physicians and researchers are working on several studies to improve the treatment of children with Dup 15q. Studies currently underway include:
- Clarifying the phenotype in 15q Interstitial Duplication Patients
- Dup 15q Alliance Multidisciplinary Clinic Database
- Family Medical History in 15q duplication subjects
- Collection of Angelman syndrome and 15q duplication autism fibroblasts for iPSC Studies
What is a typical first appointment like?
We use a multidisciplinary approach. Your first visit is likely to occur over several days. Your child will see physicians who specialize in pediatric genetics and pediatric neurology. Before your visit, questionnaires will help us to determine which, if any, other providers or specialists would benefit you and your child. These may include a pediatric sleep specialist, a pediatric gastroenterologist and/or a pediatric epileptologist. Other providers may be scheduled depending on your child’s needs.
If your child would be comforted by a special toy, blanket or other method of comfort, please feel free to bring that with you to make your child more comfortable.
Any forms that need to be filled out before the visit?
After an initial phone conversation with our nurse, you will receive an e-mail link to our initial questionnaire. Once completed, your responses may trigger the receipt of additional questionnaires that will help us to better direct your child’s visit.
For additional information, we recommend families access the Duplication 15q Alliance’s online resources at www.dup15q.org.
For more information
For more information, contact the Neuroscience Institute at firstname.lastname@example.org or Le Bonheur Connect at 901-287-PEDS or 1-866-870-5570.