title: Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation.
abstract: BACKGROUND
  Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, which includes a control of breathing deficit and features of autonomic nervous system (ANS) dysregulation. In recognition of the fundamental role of the ANS in temperature regulation and rhythm and the lack of any prior characterization of circadian temperature rhythms in CCHS, we sought to explore peripheral and core temperatures and circadian patterning. We hypothesized that CCHS patients would exhibit lower peripheral skin temperatures (PST), variability, and circadian rhythmicity (vs. controls), as well as a disrupted relationship between core body temperature (CBT) and PST.
  
  
  METHODS
  PST was sampled every 3 min over four 24-hr periods in CCHS cases and similarly aged controls. CBT was sampled in a subset of these recordings.
  
  
  RESULTS
  PST was recorded from 25 CCHS cases (110,664 measures/230 days) and 39 controls (78,772 measures/164 days). Simultaneous CBT measurements were made from 23 CCHS patients. In CCHS, mean PST was lower overall (P = 0.03) and at night (P = 0.02), and PST variability (interquartile range) was higher at night (P = 0.05) (vs. controls). PST circadian rhythm remained intact but the phase relationship of PST to CBT rhythm was extremely variable in CCHS.
  
  
  CONCLUSIONS
  PST alterations in CCHS likely reflect altered autonomic control of peripheral vascular tone. These alterations represent a previously unreported manifestation of CCHS and may provide an opportunity for therapeutic intervention. The relationship between temperature dysregulation and CCHS may also offer insight into basic mechanisms underlying thermoregulation.
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Rehan
authors.initials: R
authors.lastname: Saiyed
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Casey M
authors.initials: CM
authors.lastname: Rand
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.|Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Carroll
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Koliboski
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Tracey M
authors.initials: TM
authors.lastname: Stewart
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Cindy D
authors.initials: CD
authors.lastname: Brogadir
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Anna S
authors.initials: AS
authors.lastname: Kenny
authors.affiliation: Cardiovascular Thoracic Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
authors.forename: Emily K E
authors.initials: EK
authors.lastname: Petersen
authors.affiliation: Center for Narcolepsy, Sleep and Health Research (CNSHR), University of Illinois at Chicago, Chicago, Illinois.
authors.forename: David W
authors.initials: DW
authors.lastname: Carley
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Ann & Robert H. Lurie Children's Hospital of Chicago, Stanley Manne Children's Research Institute, Chicago, Illinois.|Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
mesh_terms: D000293:Adolescent; D000328:Adult; D001831:Body Temperature / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D002940:Circadian Rhythm / Q000502:physiology*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008297:Male; D012119:Respiration; D020182:Sleep Apnea, Central / Q000235:genetics / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: PHOX2B gene; circadian rhythm; iButton; peripheral skin temperature