The Center for Autonomic Medicine in Pediatrics (CAMP) is the first of its kind in the world. The center is an interdisciplinary program in the study of diseases affecting the autonomic nervous system (ANS) in children. The ANS is a kind of background controller for the body that functions automatically to regulate breathing, body temperature, heart-rate, blood pressure, gut motility and more.
CAMP is unique in providing comprehensive evaluation and treatment of children with problems connected to ANS function. This novel approach is rare even in adult medicine, where the handful of existing autonomic centers are based on a single discipline such as cardiology or neurology, with other disciplines participating as needed.
Background
A leader in the field, Debra E. Weese-Mayer, MD, gained international recognition for the clinical care and research study of children with disorders of respiratory control, most notably congenital central hypoventilation syndrome (CCHS), sudden infant death syndrome (SIDS), and rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD). In the process of studying and treating children with these disorders, Dr. Weese-Mayer determined that these diseases were part of a complex group of disorders with autonomic dysregulation at its core. This insight has not only allowed investigation of new treatment approaches, but has also led to fruitful collaborations with basic science researchers investigating some of the ultimate causes of these diseases.
Read an article in newsday.com about a 5 year-old girl with ROHHAD.
Genetic testing for CCHS
Physicians: Download the request for PHOX2B Gene Sequencing test.
For more information about PHOX2B sequencing, specimen requirements or this order form, please contact:
Lawrence Jennings, MD, PhD
Assistant Professor, Northwestern University
Director, Molecular Pathology, and Director, HLA and Immunogenetics
Children's Memorial Hospital 2300 Children's Plaza Chicago, IL 60614
office: 773.880.8290
labs: 773.880.3015
fax: 773.880.3790
Dr. Weese-Mayer and her team are international leaders in the study of CCHS. She and colleague Elizabeth Berry-Kravis, MD, PhD, demonstrated that PHOX2B is the disease-defining gene for CCHS and have developed a blood test, the PHOX2B Screening Test, to confirm the diagnosis. Dr. Weese-Mayer and colleague Lawrence Jennings, MD, PhD, have developed two follow-up tests. One of these tests, the PHOX2B Sequencing Test, provides added detail on the nature of the PHOX2B non-polyalanine repeat expansion mutations. The other follow-up test, the PHOX2B MLPA Test, provides added detail for cases with some but not all of the features of CCHS who have no identified mutations by the screening and sequencing tests. As a result, the CCHS Without Walls genetic testing program is now offered that allows expanded services for individuals requiring the PHOX2B testing world-wide. With each genetic test comes the opportunity for clinical advice regarding CCHS and the results of the PHOX2B testing.
How many individuals need this program?
The incidence of CCHS is still unknown but it is likely to be significantly higher than originally anticipated. This once-rare disease is now being diagnosed with increasing frequency, and with diagnosis now made in adults as well as children. Thus far, more than 800 cases have been diagnosed genetically world-wide, with more than 400 of those cases diagnosed by Dr. Weese-Mayer's program.