Autonomic function in children with congenital central hypoventilation syndrome and their families.
OBJECTIVE
Congenital central hypoventilation syndrome (CCHS) is a genetic disorder characterized by failure of automatic control of breathing in the absence of obvious anatomic lesions. There have been several reports suggesting that CCHS patients display autonomic dysregulation. Pulse arterial tonometry (PAT) is a novel technique that provides noninvasive moment-to-moment measurements of sympathetic tone changes to the cutaneous vascular bed. We hypothesized that autonomic function as measured by PAT would be altered in children with CCHS.


METHODS
Prospective study.


METHODS
CCHS Family Conference, Orlando, FL, and the local community in Louisville, KY.


METHODS
Nineteen CCHS patients and 31 parents as well as 24 control children and 15 adult control subjects.


METHODS
Children with CCHS and their parents underwent sympathetic challenges (vital capacity sigh and cold hand pressor test) and a test of reactive hyperemia (brachial artery occlusion) while PAT was continuously monitored from the right hand. Control children and control adults underwent the same procedure.


RESULTS
The maximal change of the PAT signal compared to the preceding baseline was averaged and expressed as percentage change for each of the challenges. The magnitude of sympathetic discharge-induced attenuation of PAT signal following a sigh was reduced in CCHS children compared to control subjects for both the vital capacity sighs and the cold hand pressor test. There were no differences observed in the magnitude of PAT attenuation between parents of children with CCHS and control adults. No differences were observed between either CCHS and control subjects or CCHS parents and adult control subjects for the brachial artery occlusion test.


CONCLUSIONS
CCHS patients show an attenuated response to endogenous sympathetic stimulation, supporting the presence of autonomic nervous system dysfunction as a consistent feature of this condition. No differences were found in parents of children with CCHS compared to control adults, consistent with the finding that CCHS is primarily the result of a de novo gene mutation.
O'Brien
Louise M
LM
Kosair Children's Hospital Research Institute, Division of Pediatric Sleep Medicine, Department of Pediatrics, University of Louisville School of Medicine, 571 S. Preston St, Suite 204, Louisville, KY 40202, USA.
Holbrook
Cheryl R
CR
Vanderlaan
Mary
M
Amiel
Jeanne
J
Gozal
David
D
D001341:Autonomic Nervous System / Q000503:physiopathology*; D002648:Child; D005190:Family; D005260:Female; D005385:Fingers / Q000294:innervation; D007839:Functional Laterality; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D020182:Sleep Apnea, Central / Q000151:congenital / Q000235:genetics / Q000503:physiopathology*