Hypoventilation syndromes of infancy, childhood, and adulthood: Congenital central hypoventilation syndrome (CCHS), later-onset CCHS, and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation

Rehan Saiyed, Casey M. Rand, Michael S. Carroll, Debra E. Weese-Mayer*

*Corresponding author for this work

Research output: Contribution to journalReview article

2 Scopus citations

Abstract

Early clinical identification and intervention, along with regular surveillance of all clinical features as part of ongoing care, are paramount in ensuring that individuals with CCHS and ROHHAD maximize their neurocognitive potential and ability to lead stable, relatively normal lives. With the discovery of a genetic basis and the advent of diagnostic testing, significant strides have been made in the clinical management and understanding of CCHS/LO-CCHS. These advances highlight the potential value of an analogous discovery in ROHHAD, for which efforts are ongoing. As disorders with phenotypic manifestations that span an array of medical systems and processes, CCHS/LO-CCHS and ROHHAD warrant specialized medical attention. Ideally this care should be provided at centers dedicated specifically to the care of individuals with these unique disorders, with continuous collaboration and coordination with regional providers. Such consolidation of principal care can allow for improved recognition and management of clinical symptoms of these disorders and, accordingly, improve outcomes for affected individuals. To further aid with these efforts, registries have been established for both CCHS and ROHHAD. These secure online systems aim to consent and enroll all individuals internationally with CCHS and ROHHAD to systematically document their clinical development with advancing age. Such documentation allows for strengthened coordination and dissemination of novel developments related to the evolving understanding of the diagnosis and management of these disorders, and notice of any ongoing clinical or drug intervention trials. Further information on the International CCHS and ROHHAD REDCap Registries can be found on the Center for Autonomic Medicine in Pediatrics (CAMP) at the Ann " Robert H. Lurie Children's Hospital of Chicago Web site (http://www. luriechildrens.org/en-us/care-services/condi tions-treatments/autonomic-medicine/Pages/ basics/basics.aspx), or by e-mailing CRand LurieChildrens.org.

Original languageEnglish (US)
Pages (from-to)425-439
Number of pages15
JournalSleep Medicine Clinics
Volume9
Issue number3
DOIs
StatePublished - Sep 2014

Keywords

  • Autonomic dysregulation
  • Hypothalamic dysregulation
  • Hypoventilation
  • PHOX2B

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Clinical Psychology
  • Clinical Neurology
  • Psychiatry and Mental health

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