Abstract
Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control and more recently have been highlighted as part of a growing spectrum of disorders within the rubric of autonomic nervous system (ANS) dysregulation (ANSD). CCHS typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of ANSD and, in a subset of cases, Hirschsprung disease and later tumors of neural crest origin. Study of genes related to autonomic dysregulation and the embryologic origin of the neural crest led to the discovery of PHOX2B as the disease-defining gene for CCHS. Like CCHS, SIDS is thought to result from central deficits in control of breathing and ANSD, although SIDS risk is most likely defined by complex multifactorial genetic and environmental interactions. Some early genetic and neuropathological evidence is emerging to implicate serotonin systems in SIDS risk. The purpose of this article is to review the current understanding of the genetic basis for CCHS and SIDS, and discuss the impact of this information on clinical practice and future research directions.
| Original language | English |
|---|---|
| Pages (from-to) | 38-48 |
| Number of pages | 11 |
| Journal | Respiratory Physiology and Neurobiology |
| Volume | 164 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Dec 10 2008 |
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Keywords
- 5-HTT
- ANS dysregulation
- CCHS
- FEV
- PHOX2B
- SIDS
- SLC6A4
ASJC Scopus subject areas
- Physiology
- Pulmonary and Respiratory Medicine
- Neuroscience(all)
Cite this
Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) : Kindred disorders of autonomic regulation. / Weese-Mayer, Debra E.; Berry-Kravis, Elizabeth M.; Ceccherini, Isabella; Rand, Casey M.
In: Respiratory Physiology and Neurobiology, Vol. 164, No. 1-2, 10.12.2008, p. 38-48.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS)
T2 - Kindred disorders of autonomic regulation
AU - Weese-Mayer, Debra E.
AU - Berry-Kravis, Elizabeth M.
AU - Ceccherini, Isabella
AU - Rand, Casey M.
PY - 2008/12/10
Y1 - 2008/12/10
N2 - Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control and more recently have been highlighted as part of a growing spectrum of disorders within the rubric of autonomic nervous system (ANS) dysregulation (ANSD). CCHS typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of ANSD and, in a subset of cases, Hirschsprung disease and later tumors of neural crest origin. Study of genes related to autonomic dysregulation and the embryologic origin of the neural crest led to the discovery of PHOX2B as the disease-defining gene for CCHS. Like CCHS, SIDS is thought to result from central deficits in control of breathing and ANSD, although SIDS risk is most likely defined by complex multifactorial genetic and environmental interactions. Some early genetic and neuropathological evidence is emerging to implicate serotonin systems in SIDS risk. The purpose of this article is to review the current understanding of the genetic basis for CCHS and SIDS, and discuss the impact of this information on clinical practice and future research directions.
AB - Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control and more recently have been highlighted as part of a growing spectrum of disorders within the rubric of autonomic nervous system (ANS) dysregulation (ANSD). CCHS typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of ANSD and, in a subset of cases, Hirschsprung disease and later tumors of neural crest origin. Study of genes related to autonomic dysregulation and the embryologic origin of the neural crest led to the discovery of PHOX2B as the disease-defining gene for CCHS. Like CCHS, SIDS is thought to result from central deficits in control of breathing and ANSD, although SIDS risk is most likely defined by complex multifactorial genetic and environmental interactions. Some early genetic and neuropathological evidence is emerging to implicate serotonin systems in SIDS risk. The purpose of this article is to review the current understanding of the genetic basis for CCHS and SIDS, and discuss the impact of this information on clinical practice and future research directions.
KW - 5-HTT
KW - ANS dysregulation
KW - CCHS
KW - FEV
KW - PHOX2B
KW - SIDS
KW - SLC6A4
UR - http://www.scopus.com/inward/record.url?scp=53849113295&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=53849113295&partnerID=8YFLogxK
U2 - 10.1016/j.resp.2008.05.011
DO - 10.1016/j.resp.2008.05.011
M3 - Article
C2 - 18579454
AN - SCOPUS:53849113295
VL - 164
SP - 38
EP - 48
JO - Respiratory Physiology and Neurobiology
JF - Respiratory Physiology and Neurobiology
SN - 1569-9048
IS - 1-2
ER -