scholarly journals Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Karin Ljubič ◽  
Iztok Fister ◽  
Iztok Fister
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Controller ◽  
Future Challenges ◽  
The Central Nervous System ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Cardiovascular Functions

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

Long-Term Survival of a Patient with Congenital Central Hypoventilation Syndrome despite the Lack of Continuous Ventilatory Support

Respiration ◽  
2004 ◽  
Vol 71 (2) ◽  
pp. 195-198 ◽  
Author(s):  
Wolfram Windisch ◽  
Ellen Hennings ◽  
Jan Hendrik Storre ◽  
Heinrich Matthys ◽  
Stephan Sorichter
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Term Survival ◽  
Long Term Survival ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Long-Term Follow-up of Children With Congenital Central Hypoventilation Syndrome

PEDIATRICS ◽  
1987 ◽  
Vol 80 (3) ◽  
pp. 375-380
Author(s):  
Joseph Oren ◽  
Dorothy H. Kelly ◽  
Daniel C. Shannon
Keyword(s):  
Mechanical Ventilation ◽  
Initial Period ◽  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Speech Acquisition ◽  
Ventilatory Responses ◽  
Long Term Follow Up ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

The long-term clinical course of six patients with congenital central hypoventilation syndrome is described. During the neonatal period, the patients had prolonged apneas and hypoventilation, in the absence of cardiac, pulmonary, or neuromuscular disease. After an initial period of respirator dependency, they became able to sustain normal gas exchange while awake. During sleep, however, profound hypoventilation developed, and tracheostomy and mechanical ventilation were required. Ventilatory responses to hypercapnia and hypoxia were depressed or absent and did not improve with time. One patient was able, at 2 years of age, to breathe spontaneously during sleep with only moderate hypoventilation. The others, now 4 to 14 years of age, still need ventilatory support during sleep. Complications, such as cardiac failure and hypoxic seizures, mostly occurred early in the course and resolved with correction of insufficient mechanical ventilation. Speech acquisition was possible with the use of a special stoma plug. All patients were managed at home, and with appropriate support, the parents were able to provide safe ventilatory care with low morbidity and no mortality.

Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases

2019 ◽  
Vol 15 (3) ◽  
pp. 139-153 ◽  
Author(s):  
Flaminia Bardanzellu ◽  
Maria Cristina Pintus ◽  
Vassilios Fanos ◽  
Maria Antonietta Marcialis
Keyword(s):  
Early Recognition ◽  
Correct Diagnosis ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
System Disorder

: Congenital Central Hypoventilation Syndrome (CCHS), also referred with the expression “Ondine’s Curse”, is a rare genetic life-long disease resulting from the mutation of PHOX2B gene on chromosome 4p12.3. CCHS represents an autonomic nervous system disorder; its more fearsome manifestation is central hypoventilation, due to a deficient response of chemoreceptors to hypercapnia and hypoxia. Several associated symptoms can occur, such as pupillary anomalies, arrhythmias, reduced heart rate variability, esophageal dysmotility, and structural comorbidities (Hirschsprung’s Disease or neural crest tumours). : CCHS typical onset is during the neonatal period, but cases of delayed diagnosis have been reported; moreover, both sporadic or familial cases can occur. : In preterm newborns, asphyxia and typical prematurity-related findings may overlap CCHS clinical manifestations and make it harder to formulate a correct diagnosis. : The early recognition of CCHS allows appropriate management, useful to reduce immediate and long- term consequences.

scholarly journals A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

2010 ◽  
Vol 25 (8) ◽  
pp. 1237 ◽  
Author(s):  
Kyoung-Ah Kwon ◽  
Su-Eun Park ◽  
Shin-Yun Byun ◽  
Shine-Young Kim ◽  
Sang-Hyoun Hwang
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

2010 ◽  
Vol 173 (3) ◽  
pp. 322-335 ◽  
Author(s):  
Pallavi P. Patwari ◽  
Michael S. Carroll ◽  
Casey M. Rand ◽  
Rajesh Kumar ◽  
Ronald Harper ◽  
...  
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Autonomic Dysregulation ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis?

2012 ◽  
Vol 80 (8) ◽  
pp. 688-690 ◽  
Author(s):  
Nilay Nirupam ◽  
Rajni Sharma ◽  
Viswas Chhapola ◽  
Sandeep Kumar Kanwal ◽  
Elizabeth M. Berry-Kravis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals 0874 Patients with Congenital Central Hypoventilation Syndrome Do Not Wake Up to Ventilator Alarms

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A333-A333
Author(s):  
S K Mathur ◽  
S Kun ◽  
T G Keens ◽  
I A Perez
Keyword(s):  
Pulse Oximetry ◽  
Sleep Disturbances ◽  
Ventilatory Support ◽  
Tube Feeding ◽  
Low Frequency ◽  
Congenital Central Hypoventilation Syndrome ◽  
Diaphragm Pacing ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Night Waking

Abstract Introduction Congenital Central Hypoventilation Syndrome (CCHS) requires lifelong ventilatory support during sleep. CCHS patients are vulnerable to sleep disturbances associated with treatments, monitoring alarms, and care they receive. We hypothesized that sleep would be disrupted in CCHS patient’s due to ventilatory support and other treatments at night. Methods An anonymous survey of CCHS patients aged 0-17 years was conducted through REDCAP. Patients were recruited in person, by flyer, email, and social media. Data collected included demographics, PHOX2B genotype, ventilatory support, treatments, nursing, and sleep parameters. Results We received 22 responses (27% Female, 8.1 years ± 5.7). PHOX2B genotypes were 20/27 PARM (8), 20/26 PARM (2), 20/24 PARM (2), 20/25 PARM (4), ≥ 20/28 PARM (2), and 2 NPARM (2). Two respondents did not indicate the PHOX2B genotype. 13/22 were ventilated by PPV via tracheostomy, 7/22 by BPAP, and 2/22 by diaphragm pacing. Additional treatments received at night included suctioning (8), aerosol (1), G-tube feeding (2), and none (11). Only 9 received nursing at night. 13 used pulse oximetry for monitoring, and 9 used both pulse oximetry and end tidal CO2 monitor. 16/22 rarely woke up due to ventilator or monitor alarms. 15/22 slept within 20 minutes after going to bed. Sleep latency was not affected by mode of ventilation. 11/22 reported night waking ≥ 2 nights/week and 10/22 returned to sleep without help after night waking. 6/7 BPAP dependent patients reported low frequency of night waking (0-1 time/week). Of the PPV + trach group, 7/13 reported high frequency of night wakings, mostly 5-7 times/week. Conclusion Most CCHS patients do not awaken in response to ventilator alarms. Sleep is rarely disrupted by nursing or feeding intervention. We speculate that CCHS patients contemplating to live independently should be tested to see if they awaken in response to ventilator alarms. Support None

scholarly journals Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children

1992 ◽  
Vol 120 (3) ◽  
pp. 381-387 ◽  
Author(s):  
Debra E. Weese-Mayer ◽  
Jean M. Silvestri ◽  
Lisa J. Menzies ◽  
Anna S. Morrow-Kenny ◽  
Carl E. Hunt ◽  
...  
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Syndrome Diagnosis ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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