Summary: A reduction in the amount of air entering the pulmonary alveoli.

Top Publications

  1. Yee B, Cheung J, Phipps P, Banerjee D, Piper A, Grunstein R. Treatment of obesity hypoventilation syndrome and serum leptin. Respiration. 2006;73:209-12 pubmed
    ..Although the leptin-deficient mouse (ob/ob) develops obesity hypoventilation syndrome (OHS), in humans with OHS, serum leptin is a better predictor of awake hypercapnia in obesity than ..
  2. Phipps P, Starritt E, Caterson I, Grunstein R. Association of serum leptin with hypoventilation in human obesity. Thorax. 2002;57:75-6 pubmed
    ..In leptin deficient obese mice (ob/ob mice) leptin infusion reverses hypoventilation. It was hypothesised that a relative deficiency in CNS leptin, indicated by high circulating leptin levels, ..
  3. Onal H, Ersen A. A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. Turk J Pediatr. 2010;52:198-202 pubmed
    Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life...
  4. Tao J, Qian S, Baldwin M, Chen X, Rose S, Ebersole S, et al. SUDEP, suspected positional airway obstruction, and hypoventilation in postictal coma. Epilepsia. 2010;51:2344-7 pubmed publisher
    ..was likely asphyxia from the convergence of postictal coma and suspected positional airway obstruction and hypoventilation, rather than the commonly suspected periictal cardiac arrhythmia or central apnea...
  5. Rand C, Patwari P, Rodikova E, Zhou L, Berry Kravis E, Wilson R, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011;70:375-8 pubmed publisher
    Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder...
  6. Lu C, Lin T, Yu M, Chen T, Lin C, CHIANG J, et al. Effects of changes in alveolar ventilation on isoflurane arterial blood concentration and its uptake into the human body. Pharmacology. 2009;83:150-6 pubmed publisher
    ..e. hyperventilation, normal ventilation and hypoventilation. Inspiratory (CIiso) and end-tidal (CEiso) concentrations of isoflurane were measured by infrared analysis, ..
  7. Tárrega J, Anton A, Guell R, Mayos M, Samolski D, Marti S, et al. Predicting nocturnal hypoventilation in hypercapnic chronic obstructive pulmonary disease patients undergoing long-term oxygen therapy. Respiration. 2011;82:4-9 pubmed publisher
    ..Oxygen therapy improves nocturnal desaturation but can worsen hypoventilation. To analyze the prevalence of nocturnal hypoventilation (NHV) in hypercapnic COPD patients and to determine ..
  8. Straus C, Similowski T. Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel&. Respir Physiol Neurobiol. 2011;178:357-8 pubmed publisher
    Patients suffering from congenital central hypoventilation syndrome (CCHS) depend on mechanical ventilation during sleep, from birth and throughout life. They lack CO?-chemosensitivity...
  9. Macey P, Macey K, Woo M, Keens T, Harper R. Aberrant neural responses to cold pressor challenges in congenital central hypoventilation syndrome. Pediatr Res. 2005;57:500-9 pubmed
    Patients with congenital central hypoventilation syndrome (CCHS), a condition characterized by impaired ventilatory responses to chemoreceptor stimulation, do not show the normal increase in respiratory rate and respiratory-related heart ..

More Information


  1. Bajaj R, Smith J, Trochet D, Pitkin J, Ouvrier R, Graf N, et al. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics. 2005;115:e737-8 pubmed
    Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity...
  2. Gronli J, Santucci B, Leurgans S, Berry Kravis E, Weese Mayer D. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008;43:77-86 pubmed
    Children with Congenital Central Hypoventilation Syndrome (CCHS) have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/dysfunction (ANSD) phenotype...
  3. Berger K, Ayappa I, Chatr Amontri B, Marfatia A, Sorkin I, Rapoport D, et al. Obesity hypoventilation syndrome as a spectrum of respiratory disturbances during sleep. Chest. 2001;120:1231-8 pubmed
    To identify the spectrum of respiratory disturbances during sleep in patients with obesity hypoventilation syndrome (OHS) and to examine the response of hypercapnia to treatment of the specific ventilatory sleep disturbances.
  4. Weese Mayer D, Berry Kravis E, Zhou L, Maher B, Silvestri J, Curran M, et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003;123A:267-78 pubmed
    Idiopathic congenital central hypoventilation syndrome (CCHS) has been linked to autonomic nervous system dysregulation and/or dysfunction (ANSD) since it was first described in 1970...
  5. Weese Mayer D, Berry Kravis E, Ceccherini I, Keens T, Loghmanee D, Trang H. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010;181:626-44 pubmed publisher
    Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation.
  6. Fitze G, Konig I, Paditz E, Serra A, Schläfke M, Roesner D, et al. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. Am J Med Genet A. 2008;146A:1486-9 pubmed publisher
  7. Korkmaz C, Temiz G, Cetinbas F, Büyükkidan B. Successful treatment of alveolar hypoventilation due to dermatomyositis with anti-tumour necrosis factor-alpha. Rheumatology (Oxford). 2004;43:937-8 pubmed
  8. Pérez de Llano L, Golpe R, Ortiz Piquer M, Veres Racamonde A, Vázquez Caruncho M, Caballero Muinelos O, et al. Short-term and long-term effects of nasal intermittent positive pressure ventilation in patients with obesity-hypoventilation syndrome. Chest. 2005;128:587-94 pubmed
    To assess the outcome of 54 patients with obesity-hypoventilation syndrome (OHS) who were treated with nasal intermittent positive-pressure ventilation (NIPPV).
  9. Tomycz N, Haynes R, Schmidt E, Ackerson K, Kinney H. Novel neuropathologic findings in the Haddad syndrome. Acta Neuropathol. 2010;119:261-9 pubmed publisher
    Haddad syndrome (congenital central hypoventilation syndrome and Hirschsprung's disease) is a rare disorder for which in-depth neuropathologic analysis is lacking...
  10. Woo M, Macey P, Macey K, Keens T, Woo M, Harper R, et al. FMRI responses to hyperoxia in congenital central hypoventilation syndrome. Pediatr Res. 2005;57:510-8 pubmed
    Congenital Central Hypoventilation Syndrome (CCHS) patients show partial retention of peripheral chemoreception despite impaired ventilatory responses to CO2 and hypoxia...
  11. Weese Mayer D, Berry Kravis E, Ceccherini I, Rand C. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir Physiol Neurobiol. 2008;164:38-48 pubmed publisher
    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 ..
  12. Casey K, Cantillo K, Brown L. Sleep-related hypoventilation/hypoxemic syndromes. Chest. 2007;131:1936-48 pubmed
    ..Diagnostic and Coding Manual subsumes a broad range of disorders under the heading "Sleep Related Hypoventilation/Hypoxemic Syndromes...
  13. Leroy S, Perez T, Neviere R, Aguilaniu B, Wallaert B. Determinants of dyspnea and alveolar hypoventilation during exercise in cystic fibrosis: impact of inspiratory muscle endurance. J Cyst Fibros. 2011;10:159-65 pubmed publisher
    ..Because inspiratory muscles are faced with an increased workload in advanced CF, we studied the impact of their strength and endurance on dyspnea and alveolar hypoventilation during exercise.
  14. Jackson C, Rosenfeld J, Moore D, Bryan W, Barohn R, Wrench M, et al. A preliminary evaluation of a prospective study of pulmonary function studies and symptoms of hypoventilation in ALS/MND patients. J Neurol Sci. 2001;191:75-8 pubmed
    ..In addition, intervention with NPPV earlier than our current standard of care may result in improved quality of life...
  15. Gallego J. Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes. Compr Physiol. 2012;2:2255-79 pubmed publisher
    ..summarizes current knowledge on three rare genetic disorders of respiratory control, congenital central hypoventilation syndrome (CCHS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS)...
  16. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi G, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet. 2004;41:373-80 pubmed
  17. Nsegbe E, Wallén Mackenzie A, Dauger S, Roux J, Shvarev Y, Lagercrantz H, et al. Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice. J Physiol. 2004;556:43-59 pubmed
    ..herein that Nurr1 newborn knockout mice have a severely disturbed breathing pattern characterized by hypoventilation, numerous apnoeas and failure to increase breathing when challenged with hypoxia...
  18. Kumar R, Ahdout R, Macey P, Woo M, Avedissian C, Thompson P, et al. Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome. Neuroscience. 2009;163:1373-9 pubmed publisher
    Congenital central hypoventilation syndrome (CCHS) children show cognitive and affective deficits, in addition to state-specific loss of respiratory drive...
  19. Parodi S, Vollono C, Baglietto M, Balestri M, Di Duca M, Landri P, et al. Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. Clin Genet. 2010;78:289-93 pubmed publisher
    Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder...
  20. Herer B, Royand F, Kieffer E, Vincent J. A case report of an obesity hypoventilation syndrome associated with obstructive sleep apnea due to a carotid body paraganglioma. Sleep Med. 2003;4:459-63 pubmed
    To the best of our knowledge, the association between an obstructive sleep apnea syndrome (OSAS) due to a neck mass and an obesity hypoventilation syndrome (OHS) has not been reported.
  21. de Miguel Diez J, de Lucas Ramos P, Pérez Parra J, Buendía García M, Cubillo Marcos J, Gonzalez Moro J. [Analysis of withdrawal from noninvasive mechanical ventilation in patients with obesity-hypoventilation syndrome. Medium term results]. Arch Bronconeumol. 2003;39:292-7 pubmed
    To evaluate the possibility of cessation of noninvasive mechanical ventilation or noninvasive positive pressure ventilation (NPPV) treatment in patients with obesity-hypoventilation syndrome (OHS).
  22. Amin R, Riekstins A, Al Saleh S, Massicotte C, Coates A, Maclusky I. Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome. Can Respir J. 2011;18:87-9 pubmed
    Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation during sleep secondary to a blunted response to hypercapnia and hypoxia...
  23. Lee P, Su Y, Yu C, Yang P, Wu H. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. Chest. 2009;135:537-544 pubmed publisher
    Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemoreflexes resulting in sleep hypoventilation...
  24. de Pontual L, Trochet D, Caillat Zucman S, Abou Shenab O, Bougneres P, Crow Y, et al. Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res. 2008;64:689-94 pubmed publisher
    Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation...
  25. Lo Coco D, Marchese S, Corrao S, Cettina Pesco M, La Bella V, Piccoli F, et al. Development of chronic hypoventilation in amyotrophic lateral sclerosis patients. Respir Med. 2006;100:1028-36 pubmed
    Early prediction of respiratory muscle involvement and chronic hypoventilation (CH) in amyotrophic lateral sclerosis (ALS) patients can help to plan mechanical ventilatory aids and palliative care interventions well before respiratory ..
  26. Wider C, Wszolek Z. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord. 2008;14:1-7 pubmed
    Autosomal dominant parkinsonism, hypoventilation, depression and weight loss (Perry syndrome) has been reported in only seven families worldwide...
  27. O Donoghue F, Catcheside P, Ellis E, Grunstein R, Pierce R, Rowland L, et al. Sleep hypoventilation in hypercapnic chronic obstructive pulmonary disease: prevalence and associated factors. Eur Respir J. 2003;21:977-84 pubmed
    Sleep hypoventilation (SH) may be important in the development of hypercapnic respiratory failure in chronic obstructive pulmonary disease (COPD)...
  28. Kijima K, Sasaki A, Niki T, Umetsu K, Osawa M, Matoba R, et al. Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med. 2004;203:65-8 pubmed
    ..Congenital central hypoventilation syndrome (CCHS or Ondine's curse) is a disorder characterized by an idiopathic failure of the autonomic ..
  29. Erba P, Anastasi S, Senn O, Maggiorirni M, Bloch K. Acute mountain sickness is related to nocturnal hypoxemia but not to hypoventilation. Eur Respir J. 2004;24:303-8 pubmed
    ..1+/-42.6 events per h). The data suggest that pronounced nocturnal hypoxemia, which was not related to hypoventilation, may have promoted acute mountain sickness...
  30. Jokic R, Zintel T, Sridhar G, Gallagher C, Fitzpatrick M. Ventilatory responses to hypercapnia and hypoxia in relatives of patients with the obesity hypoventilation syndrome. Thorax. 2000;55:940-5 pubmed
    It is unclear why some morbidly obese individuals have waking alveolar hypoventilation while others with similar obesity do not...
  31. Arens R, Muzumdar H. Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases. Paediatr Respir Rev. 2010;11:24-30 pubmed publisher
    ..However, other modalities of mechanical ventilation do exist and may be indicated in combination with or without other supportive measures...
  32. Hida W, Okabe S, Tatsumi K, Kimura H, Akasiba T, Chin K, et al. Nasal continuous positive airway pressure improves quality of life in obesity hypoventilation syndrome. Sleep Breath. 2003;7:3-12 pubmed
    We studied the quality of life of obesity hypoventilation syndrome (OHS) by comparing it with age- and body mass index-matched patients without hypoventilation and age-matched obstructive sleep apnea (OSA) patients with body mass index (..
  33. Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57:724-8 pubmed
    ..of SDB, to clarify the relationships between SDB and lung and respiratory muscle function, and to identify daytime predictors for SDB at its onset, for SDB with continuous hypercapnic hypoventilation, and for diurnal respiratory failure.
  34. Kim S, Park K, Nam H, Ahn S, Kim S, Sung J, et al. Capnography for assessing nocturnal hypoventilation and predicting compliance with subsequent noninvasive ventilation in patients with ALS. PLoS ONE. 2011;6:e17893 pubmed publisher
    Patients with amyotrophic lateral sclerosis (ALS) suffer from hypoventilation, which can easily worsen during sleep...
  35. Weese Mayer D, Silvestri J, Huffman A, Smok Pearsall S, Kowal M, Maher B, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet. 2001;100:237-45 pubmed
    Children with idiopathic congenital central hypoventilation syndrome (CCHS) have a complex phenotype consistent with an imbalance of the autonomic nervous system (ANS)...
  36. Masa J, Celli B, Riesco J, Hernandez M, Sánchez de Cos J, Disdier C. The obesity hypoventilation syndrome can be treated with noninvasive mechanical ventilation. Chest. 2001;119:1102-7 pubmed
    To assess the effectiveness of nasal noninvasive mechanical ventilation (NIMV) in patients with obesity hypoventilation syndrome (OHS).
  37. Patwari P, Stewart T, Rand C, Carroll M, Kuntz N, Kenny A, et al. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. Pediatr Res. 2012;71:280-5 pubmed publisher
    Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation, autonomic nervous system (ANS) dysregulation (ANSD), and mutations in the paired-like homeobox 2B (PHOX2B) gene...
  38. Ferrandiere M, Hazouard E, Ayoub J, Laffon M, Gage J, Mercier C, et al. Non-invasive ventilation corrects alveolar hypoventilation during spinal anesthesia. Can J Anaesth. 2006;53:404-8 pubmed
    To document and explain the beneficial effects of non-invasive ventilation in correcting hypoxemia and hypoventilation in severe chronic obstructive pulmonary disease, during spinal anesthesia in the lithotomy position.
  39. Dellborg C, Olofson J, Midgren B, Caro O, Skoogh B, Sullivan M. Quality of life in patients with chronic alveolar hypoventilation. Eur Respir J. 2002;19:113-20 pubmed
    Measurements of health-related quality of life (HRQL) have not been reported in patients with chronic alveolar hypoventilation (CAH) before starting home mechanical ventilation...
  40. Vagiakis E, Koutsourelakis I, Perraki E, Roussos C, Mastora Z, Zakynthinos S, et al. Average volume-assured pressure support in a 16-year-old girl with congenital central hypoventilation syndrome. J Clin Sleep Med. 2010;6:609-12 pubmed
    Congenital central hypoventilation syndrome (CCHS) is an uncommon disorder characterized by the absence of adequate autonomic control of respiration, which results in alveolar hypoventilation and decreased sensitivity to hypercarbia and ..
  41. Goridis C, Dubreuil V, Thoby Brisson M, Fortin G, Brunet J. Phox2b, congenital central hypoventilation syndrome and the control of respiration. Semin Cell Dev Biol. 2010;21:814-22 pubmed publisher
    ..Such knowledge will enable new genetic approaches towards elucidating how respiratory networks are assembled and configured in normal and pathological conditions...
  42. De Oliveira G, Ahmad S, Fitzgerald P, McCarthy R. Detection of hypoventilation during deep sedation in patients undergoing ambulatory gynaecological hysteroscopy: a comparison between transcutaneous and nasal end-tidal carbon dioxide measurements. Br J Anaesth. 2010;104:774-8 pubmed publisher
    ..7% vs 33.3%, P<0.01). Tc(co(2)) demonstrated better agreement with Pa(co(2)) than Pe'(co(2)) for patients under MAC with deep sedation. Tc(co(2)) monitoring was more sensitive for detection of Pa(co(2)) >6.65 kPa than Pe'(co(2)). ..
  43. Bateman L, Spitz M, Seyal M. Ictal hypoventilation contributes to cardiac arrhythmia and SUDEP: report on two deaths in video-EEG-monitored patients. Epilepsia. 2010;51:916-20 pubmed publisher
    ..Ictal/postictal hypoventilation may contribute to SUDEP with the resulting hypoxemia and acidosis leading to failure of recovery of cortical ..
  44. Bougneres P, Pantalone L, Linglart A, Rothenbuhler A, Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood. J Clin Endocrinol Metab. 2008;93:3971-80 pubmed publisher
    Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor (ROHHADNET) is a newly described syndrome that can cause cardiorespiratory arrests and death...
  45. Ward S, Chatwin M, Heather S, Simonds A. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019-24 pubmed
    ..Individuals with nocturnal hypercapnia but daytime normocapnia were randomised to a control group or nocturnal NIV to examine whether nocturnal hypoventilation is a valid indication for NIV.
  46. Holzinger A, Mittal R, Kachel W, Priessmann H, Hammel M, Ihrler S, et al. A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine. Am J Med Genet A. 2005;139:50-1 pubmed
  47. Fontana G, Lavorini F, Geri P, Zanasi A, Piumelli R. Cough in children with congenital central hypoventilation syndrome. Pulm Pharmacol Ther. 2004;17:425-9 pubmed
    Congenital central hypoventilation syndrome (CCHS) is defined as failure of the chemical (autonomic) control of breathing causing alveolar hypoventilation in the absence of pulmonary, cardiac, neuromuscular or patent brainstem lesions...
  48. Rhee J, Arata A, Selleri L, Jacobs Y, Arata S, Onimaru H, et al. Pbx3 deficiency results in central hypoventilation. Am J Pathol. 2004;165:1343-50 pubmed
    ..Pbx3-deficient mice provide a model for congenital central hypoventilation syndrome and suggest that Pbx3 mutations may promote the pathogenesis of this disorder.
  49. Shirasawa S, Arata A, Onimaru H, Roth K, Brown G, Horning S, et al. Rnx deficiency results in congenital central hypoventilation. Nat Genet. 2000;24:287-90 pubmed
    ..Thus, Rnx is critical for the development of the ventral medullary respiratory centre and its deficiency results in a syndrome resembling congenital central hypoventilation.
  50. Trochet D, Mathieu Y, Pontual L, Savarirayan R, Munnich A, Brunet J, et al. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Hum Mutat. 2009;30:E421-31 pubmed publisher
    A wide range of autonomic dysfunctions, i.e. Central Hypoventilation Syndromes, Hirschsprung disease and Tumours of the Sympathetic Nervous System have been ascribed to heterozygous PHOX2B mutations in man...
  51. Carden K, Fogel R. Obesity-associated hypoventilation--a "growing" concern. Am J Med. 2004;116:58-9 pubmed
  52. Nowbar S, Burkart K, Gonzales R, Fedorowicz A, Gozansky W, Gaudio J, et al. Obesity-associated hypoventilation in hospitalized patients: prevalence, effects, and outcome. Am J Med. 2004;116:1-7 pubmed
    Severe obesity is associated with hypoventilation, a disorder that may adversely affect morbidity and mortality. We sought to determine the prevalence and effects of obesity-associated hypoventilation in hospitalized patients.
  53. Vanderlaan M, Holbrook C, Wang M, Tuell A, Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217-29 pubmed
    ..examined the cross-sectional medical and social characteristics of children diagnosed with congenital central hypoventilation syndrome (CCHS)...
  54. Zelko F, Nelson M, Leurgans S, Berry Kravis E, Weese Mayer D. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010;45:92-8 pubmed publisher
    Examine indices of neurocognitive functioning in children with PHOX2B mutation-confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of PHOX2B genotype, demographics, and disease severity.
  55. Piper A. Nocturnal hypoventilation - identifying & treating syndromes. Indian J Med Res. 2010;131:350-65 pubmed
    Nocturnal hypoventilation is a common feature of disorders affecting the function of the diaphragm or central respiratory drive mechanisms...
  56. Fitzpatrick M. Leptin and the obesity hypoventilation syndrome: a leap of faith?. Thorax. 2002;57:1-2 pubmed
  57. Olson A, Zwillich C. The obesity hypoventilation syndrome. Am J Med. 2005;118:948-56 pubmed
    The obesity hypoventilation syndrome, which is defined as a combination of obesity and chronic hypoventilation, utimately results in pulmonary hypertension, cor pulmonale, and probable early mortality...
  58. Vitaliani R, Mason W, Ances B, Zwerdling T, Jiang Z, Dalmau J. Paraneoplastic encephalitis, psychiatric symptoms, and hypoventilation in ovarian teratoma. Ann Neurol. 2005;58:594-604 pubmed
    ..acute psychiatric symptoms, seizures, memory deficits, decreased level of consciousness, and central hypoventilation associated with ovarian teratoma (OT) and cerebrospinal fluid (CSF) inflammatory abnormalities...
  59. Tibballs J, Henning R. Noninvasive ventilatory strategies in the management of a newborn infant and three children with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2003;36:544-8 pubmed
    Four children with congenital central hypoventilation syndrome (CCHS) treated with noninvasive techniques of ventilation are presented...
  60. Parodi S, Di Zanni E, Di Lascio S, Bocca P, Prigione I, Fornasari D, et al. The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. J Mol Med (Berl). 2012;90:1025-35 pubmed publisher
    Expansions of a polyalanine (polyA) stretch in the coding region of the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by the absence of adequate control of autonomic breathing...
  61. Macey P, Alger J, Kumar R, Macey K, Woo M, Harper R. Global BOLD MRI changes to ventilatory challenges in congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2003;139:41-50 pubmed
    ..global blood oxygen level dependent (BOLD) signal changes in gray and white matter in 14 congenital central hypoventilation syndrome (CCHS) and 14 control subjects...