Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome

Debra E. Weese-Mayer, Jean M. Silvestri, Angela D. Huffman, Sheilah M. Smok-Pearsall, Mary H. Kowal, Brion Maher, Margaret E. Cooper, Mary L. Marazita

Research output: Contribution to journalArticle

Abstract

Children with idiopathic congenital central hypoventilation syndrome (CCHS) have a complex phenotype consistent with an imbalance of the autonomic nervous system (ANS). Since CCHS may be genetic in origin, we hypothesized that relatives of individuals with CCHS may exhibit symptoms of ANS dysfunction (ANSD), albeit in a milder form. We tested this hypothesis by assessing aspects of ANS function in relatives of CCHS cases vs. relatives of matched controls with a scripted questionnaire. Only those 35 symptoms of ANSD exhibited by ≥5% of the CCHS cases were included in the analysis as the basis for determining ANSD affection status. Two different arbitrary ANSD affection status definitions are presented in detail: any case, control, or relative with positive findings (1) in two or more symptoms, or (2) in two or more systems. The subjects included in the analysis totaled 2,353, including 56 CCHS cases, 56 age-, gender-, and race-matched controls, and their families. Under each of the two arbitrary ANSD affection statuses, CCHS cases and parents of cases were more likely to be affected than controls and parents of controls (P

Original languageEnglish (US)
Pages (from-to)237-245
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume100
Issue number3
DOIs
StatePublished - May 1 2001
Externally publishedYes

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Autonomic Nervous System
Case-Control Studies
Parents
Congenital central hypoventilation syndrome
Phenotype

Keywords

  • Autonomic nervous system
  • Idiopathic congenital central hypoventilation syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Weese-Mayer, D. E., Silvestri, J. M., Huffman, A. D., Smok-Pearsall, S. M., Kowal, M. H., Maher, B., ... Marazita, M. L. (2001). Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. American Journal of Medical Genetics, 100(3), 237-245. https://doi.org/10.1002/ajmg.1249

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. / Weese-Mayer, Debra E.; Silvestri, Jean M.; Huffman, Angela D.; Smok-Pearsall, Sheilah M.; Kowal, Mary H.; Maher, Brion; Cooper, Margaret E.; Marazita, Mary L.

In: American Journal of Medical Genetics, Vol. 100, No. 3, 01.05.2001, p. 237-245.

Research output: Contribution to journalArticle

Weese-Mayer, DE, Silvestri, JM, Huffman, AD, Smok-Pearsall, SM, Kowal, MH, Maher, B, Cooper, ME & Marazita, ML 2001, 'Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome', American Journal of Medical Genetics, vol. 100, no. 3, pp. 237-245. https://doi.org/10.1002/ajmg.1249
Weese-Mayer, Debra E. ; Silvestri, Jean M. ; Huffman, Angela D. ; Smok-Pearsall, Sheilah M. ; Kowal, Mary H. ; Maher, Brion ; Cooper, Margaret E. ; Marazita, Mary L. / Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. In: American Journal of Medical Genetics. 2001 ; Vol. 100, No. 3. pp. 237-245.
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