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. ANS is the system that functions automatically to regulate breathing, heart rate, temperature regulation, gut motility, and more.
The comprehensive study of children with ANS dysregulation (problems in the system’s function) is very new. Even in adult medicine, the handful of existing autonomic units are based on a single discipline such as cardiology or neurology, with other disciplines participating as needed.
Background
An earlier program developed by Debra E. Weese-Mayer, MD, has evolved to gain 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 building the program, Dr. Weese-Mayer determined that these diseases were part of a complex group of disorders with autonomic dysregulation at its core.
Genetic testing for CCHS
Physicians: Download the request for PHOX2B Gene Sequencing test here.
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 a colleague demonstrated that PHOX2B is the disease-defining gene for CCHS and have developed a blood test to confirm the diagnosis. Dr. Weese-Mayer and colleague Lawrence Jennings, MD, PhD, have developed another follow-up test — a test that provides added detail on the nature of the PHOX2B mutations and hence on the severity of the clinical condition. 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 significantly higher than originally anticipated. The once-rare disease is now being diagnosed at a rate of 6 new cases confirmed genetically each month, with diagnosis now made in adults as well as children. Thus far, more than 600 cases have been diagnosed genetically world-wide, with more than 380 of those cases diagnosed by Dr. Weese-Mayer’s program.