Publications

Debra Weese-Mayer, MD, has worked with other physicians on various publications about congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD)​​. Below are lists of some of the most important publications about these conditions.

CCHS Publications

  • Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, and Trang H:  American Thoracic Society Statement. Congenital central hypoventilation syndrome:  Genetic basis, diagnosis, and management. Am J Respir Crit Care Med 181:626-644, 2010. Download the PDF.
  • Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, and Weese-Mayer DE.  Residual chemosensory response to exogenous ventilatory challenges in paired-like homeobox 2B mutation-confirmed congenital central hypoventilation syndrome. J Appl Physiol 116:439-450, 2014.  PMID:  24381123. Download the PDF.
  • Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, and Ceccherini I:  Congenital central hypoventilation syndrome from past to future:  Model for translational and transitional autonomic medicine.  Pediatr Pulmonol 44(6):521-535, 2009. Download the PDF.
  • Weese-Mayer DE, Marazita ML, Rand CM, and Berry-Kravis EM:  Congenital central hypoventilation syndrome. 2004 Jan 28 [Updated 2014 Jan 30]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1427/.  PMID:  20301600. Download the PDF.
  • Axelrod FB, Chelimsky GG, and Weese-Mayer DE:  Pediatric autonomic disorders:  State of the Art.  Pediatrics 118:309-321, 2006. Download the PDF.
  • Gordon SC, Rand CM, and Weese-Mayer DE: Congenital central hypoventilation syndrome.  In: Rare Disease Database. Copyright 2013, National Organization for Rare Disorders (NORD). Available at rarediseases.org. Download the PDF.
  • Rand CM, Carroll MS, and Weese-Mayer DE:  Congenital central hypoventilation syndrome:  A neurocristopathy with disordered respiratory control & autonomic regulation.  In:  Clinics in Chest Medicine (D’Ambrosio C, editor), Elsevier, Philadelphia, PA, in press 2014.
  • Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, and Weese-Mayer DE: Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).  Am J Med Gen A 158A(9):2297-2301, 2012. PMID: 22821709. Download the PDF.
  • Rand CM, Carroll MS, and Weese-Mayer DE: Congenital Central Hypoventilation Syndrome: A Neurocristopathy with Disordered Respiratory Control and Autonomic Regulation. Download the PDF.
  • Weese-Mayer DE, Patwari PP, Rand CM, Diedrich AM, Kuntz NL, and Berry-Kravis EM:  Congenital Central Hypoventilation Syndrome (CCHS) and PHOX2B Mutations. In: Primer on the Autonomic Nervous System (Robertson D, Biaggioni I, Burnstock G, Low PA, and Paton, JFR, editors), Academic Press, Oxford, UK, pp. 445 – 450, 2012. Download the PDF.
  • Saiyed R, Rand CM, Carroll MS, and Weese-Mayer DE.  Pediatric hypoventilation syndromes: Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction hypoventilation and autonomic dysfunction (ROHHAD).  In:  Sleep Medicine Clinics on Sleep Hypoventilation Syndromes in Adults and Children (Mokhlesi B; guest editor), Elsevier, Philadelphia, PA, in press 2014. 
  • Saiyed R, Rand CM, Carroll MS, and Weese-Mayer DE. Hypoventilation Syndromes of Infancy, Childhood, and Adulthood. Download the PDF.
  • Chin AC, Shaul DB, Patwari PP, Keens TG, Kenny AS, and Weese-Mayer DE:  Diaphragmatic pacing in infants and children with congenital central hypoventilation syndrome (CCHS).  In:  Sleep Disordered Breathing in Children:  A Clinical Guide (Kheirandish-Gozal L and Gozal D, editors), Springer Press, New York, NY, pp. 553-573, 2012.  DOI:  10.1007/978-1-60761-725-729, 2012.  Download the PDF.

ROHHAD Publications

  • Vitez SF, Ize-Ludlow D, Rand CM, and Weese-Mayer DE: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD).  In: Rare Disease Database. Copyright 2013, National Organization for Rare Disorders (NORD). Available at rarediseases.org.
  • Ize-Ludlow D, Gray J, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, and Weese-Mayer DE:  Rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.  Pediatrics 120:e179-e188, 2007. Download the PDF.
  • Saiyed R, Rand CM, Carroll MS, and Weese-Mayer DE. Pediatric hypoventilation syndromes: Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction hypoventilation and autonomic dysfunction (ROHHAD). In: Sleep Medicine Clinics on Sleep Hypoventilation Syndromes in Adults and Children (Mokhlesi B; guest editor), Elsevier, Philadelphia, PA, in press 2014.
  • Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJA, Bech-Hansen T, and Weese-Mayer DE:  Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation  (ROHHAD):  Analysis of hypothalamic and autonomic candidate genes. Pediatr Res 70(4):375-378, 2011. PMID: 21691246. Download the PDF.
  • Axelrod FB, Chelimsky GG, and Weese-Mayer DE:  Pediatric autonomic disorders:  State of the Art.  Pediatrics 118:309-321, 2006. Download the PDF.
  • Carroll MS*, Pallavi PP*, and Weese-Mayer DE: Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation. J Appl Physiol 108: 979 - 988, 2010. Download the PDF.