Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, UK; Robert.Bullock{at}nuth.nhs.uk Abstract Congenital central hypoventilation syndrome is a rare illness, which classically presents in the neonatal period; newborns present with shallow [emj.bmj.com]

[…] findings (genotype-phenotype correlation), the evolution of the modes of mechanical ventilation that the patients have received, and the atypical forms of presentation of the disease in relation to the presented mutation. [comunidad.madrid]

• Sleep Disturbance

  You can also use the journaling technique to monitor overall sleep pattern and quality, by using “Sleep Monitor Journal” Another great book is “The Effortless Sleep Method” “Treating Sleep Problems: A Transdiagnostic Approach” addresses sleep disturbances [halffullnotempty.com]

  Alternatively, patients with CCHS could be more isolated from noises and external disturbances that prolong sleep onset latency. [ojrd.biomedcentral.com]

Laboratory workup, radiographic evaluation, and ancillary testing ruled out brain stem lesions, neuromuscular diseases, cardiovascular and pulmonary disease, and metabolic disorders, resulting in a diagnosis of CCAH syndrome. [journals.sagepub.com]

A brainstem MRI should be performed as part of this workup.38–41 In addition to CCHS, other potential congenital conditions associated with central hypoventilation include familial dysautonomia, Mobius syndrome, Pitt Hopkins syndrome, Prader-Willi syndrome [tandfonline.com]

Her subsequent genetic workup revealed that she had the autosomal dominant condition. She was heterozygous for 33 Polyalanine Repeats in the PHOX2B gene, specifically 20 repeats at one allele and 33 repeats at the other (Table 1). [scitechnol.com]

[…] tomography (CT) scanning Diaphragm fluoroscopy, ultrasonography, or both Echocardiography Comprehensive testing for neuromuscular disorders and inborn errors of metabolism Serial monitoring of complete cell blood (CBC) counts Blood gas analysis See Workup [emedicine.medscape.com]

Drug treatment still needs further study; the long-term effect was still not good. e-Published: 16 Nov, 2015 [mona.uwi.edu]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment Treatment focuses on providing breathing support, usually through the use of a respirator, or ventilator. [hopkinsmedicine.org]

Treatment Treatment involves the use of a mechanical ventilator connected to a tracheostomy tube in front of the throat. The ventilator ensures normal breathing whenever the person goes to sleep, even during naps. [verywellhealth.com]

The disease is fatal if left untreated, and every bit of information on a patient’s experiences and treatment can help specialists find the next step in their treatment plans. [healthery.com]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment focuses on providing breathing support, usually through the use of a respirator (ventilator). [neonatalicu.blogspot.com]

The disease prognosis is poor. The treatment of this disease is difficult and the use of mechanical ventilation and diaphragm pacing therapy might exhibit some short-term efficacy. [mona.uwi.edu]

Other associated features: esophageal dysmotility sensorineural hearing defect Treatment and prognosis The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while the Hirschsprung disease is confirmed [radiopaedia.org]

Prognosis Children with CCHS are able to lead active lives but need close supervision while swimming or playing in pools, since their bodies may “forget” to breathe while underwater. [hopkinsmedicine.org]

Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. [pubmed.ncbi.nlm.nih.gov]

Etiology Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. The documents contained in this web site are presented for information purposes only. [orpha.net]

More researches are needed to elucidate its epidemiology, etiology, clinical characteristic, treatment and prognosis. [alliedacademies.org]

Presentations highlighted the progress made in understanding the etiology and molecular mechanisms of phox2b. [cchsnetwork.org]

Summary Epidemiology Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases. [orpha.net]

Epidemiology Rare disorder Predisposing factors: Sex: M>F Peak age: aged 20-50 (but can occur at any age) Familial cases: have been reported Definition: idiopathic hypoventilation in the absence of any neuromuscular disease or mechanical ventilatory defect [mdnxs.com]

Central congenital hypoventilation syndrome - Congenital central alveolar hypoventilation syndrome - Ondine curse Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Give information about Congenital central hypoventilation syndrome and the other hydiopathic syndromes with central hypoventilation, implementation of a European CHS register (EU-CHS register),as a critical mass of patients is required for high-quality epidemiological [ichsnetwork.eu]

Pathophysiology Ondine Syndrome is most likely caused by a heterozygous mutation—either a polyalanine repeat mutation or nonpolyalanine repeat mutation—in the paired-like homeobox2B (PHO2XB) gene on chromosome 4p13. [accesspediatrics.mhmedical.com]

We propose here a large database describing concisely pathophysiological and anesthetic aspects of syndromes and rare childhood diseases. It is updated monthly but not peer-reviewd. [sites.uclouvain.be]

[…] heart rate variability and increased heart rate recorded in a fetus throughout the third trime-non turned out to be rare prenatal manifestations of a case of Ondine’s curse (chronic central alveolar hypoventilation syndrome), a disorder of still unclear pathophysiology [karger.com]

The observation that fetal breathing movements are normal in the fetus with CCHS offers an insight into some aspects of the primary pathophysiology of the condition. [nature.com]

Pathophysiology In 2003, the disease-causing gene for congenital central hypoventilation syndrome (CCHS) was discovered in the pairedlike homeobox gene PHOX2B, located at exon 3 on chromosome 4. [emedicine.medscape.com]

Central Hypoventilation Syndrome Prevention Since the disease is often congenital, it is often unpredictable and therefore non-preventable. [healthery.com]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment Treatment focuses on providing breathing support, usually through the use of a respirator, or ventilator. [hopkinsmedicine.org]

Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. [pubmed.ncbi.nlm.nih.gov]

There is no known prevention. You should avoid using sleep medicines or other drugs that can cause drowsiness. Ondine's curse; Ventilatory failure; Diminished hypoxic ventilator drive; Diminished hypercapnic ventilator drive Cielo C, Marcus CL. [nlm.nih.gov]