Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015

Teresa, María; Abal, Raquel Porto; Torres, Silvia Rodríguez; Urabayen, Diego García; Martínez, Silvia García; Trang, Ha; Campos-Barros, Ángel

doi:10.1016/j.anpedi.2016.05.008

Cited by 5 publications

(3 citation statements)

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“…There were six studies (6/60, 10%) on NIV use for infants with central hypoventilation syndrome (CHS) that reported primary or secondary outcomes, and all six were summarized (Table 2 ) ( 60 – 65 ). The diagnosis of CHS was confirmed clinically in two studies ( 61 , 65 ), via PHOX2B gene mutation analysis in three studies ( 60 , 62 , 64 ), and unreported in one study ( 63 ). NIV was used in conjunction with negative extra-thoracic pressure ventilation (VNEP) therapy in two studies: in one study, it was used as the primary therapy ( 65 ) and, in the second study, CPAP was used to relieve upper airway obstruction not resolved with VNEP ( 61 ).…”

Section: Resultsmentioning

confidence: 99%

“…One study with six infants reported NIV discontinuation in two infants (33%) because of improvements in respiratory parameters; the remaining four infants were using NIV only during sleep ( 61 ). One cohort study reported mortality outcomes and a higher hospitalization time for infants using invasive mechanical ventilation compared to NIV (Table 4 ) ( 60 ). Two studies showed parent-reported improvements in growth and development after NIV initiation using the results of a parent questionnaire ( 61 , 63 ).…”

Section: Resultsmentioning

confidence: 99%

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Long-term Non-Invasive Ventilation in Infants: A Systematic Review and Meta-Analysis

et al. 2018

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BackgroundThe use of long-term non-invasive ventilation (NIV) to treat sleep and breathing disorders in children has increased substantially in the last decade; however, less data exist about its use in infants. Given that infants have distinct sleep and breathing patterns when compared to older children, the outcomes of infants on long-term NIV may differ as well. The aim of this study is to systematically review the use and outcomes of long-term NIV in infants.MethodsOvid Medline, Ovid Embase, CINAHL (via EbscoHOST), PubMed, and Wiley Cochrane Library were systematically searched from January 1990 to July 2017. Studies on infants using long-term NIV outside of an acute care setting were included. Data were extracted on study design, population characteristics, and NIV outcomes.ResultsA total of 327 studies were full-text reviewed, with final inclusion of 60. Studies were distributed across airway (40%), neuromuscular (28%), central nervous system (10%), cardio-respiratory (2%), and multiple (20%) disease categories. Of the 18 airway studies reporting on NIV outcomes, 13 (72%) reported improvements in respiratory parameters. Of the 12 neuromuscular studies exclusively on spinal muscular atrophy type 1 (SMA1), six (50%) reported decreased hospitalizations and nine (75%) reported on mortality outcomes. Risk of bias was moderate to serious, and quality of the evidence was low to very low for all studies. Most studies had an observational design with no control group, limiting the potential for a meta-analysis.ConclusionThe outcomes reported in studies differed by the disease category being studied. Studies on airway conditions showed improvements in respiratory parameters for infants using NIV. Studies on neuromuscular disorder, which were almost exclusively on SMA1, reported decreased hospitalizations and prolonged survival. Overall, it appears that NIV is an effective long-term therapy for infants. However, the high risk of bias and low quality of the available evidence limited strong conclusions.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Long-term Non-Invasive Ventilation in Infants: A Systematic Review and Meta-Analysis

et al. 2018

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“…CCHS (2020-ICD-10-CM and ICSD3 code: G47.35; MIM 209880, ORPHA 661) is a rare condition, the incidence of which has been estimated to be at 1/148,000–1/200,000 live births [ 84 , 92 ], and the prevalence at 1/500,000 individuals [ 92 ]. Clinical hallmarks of CCHS are well-described: central hypoventilation due to abnormally reduced or absent ventilatory responses to hypercapnia and hypoxia and associated manifestations of autonomic dysfunction such as Hirschsprung disease (HD) and neural crest tumours [ 32 , 106 ].…”

Section: Introductionmentioning

confidence: 99%

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Trang

Samuels

Ceccherini

et al. 2020

Orphanet J Rare Dis

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137

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Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. Body This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. Conclusion Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.

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Liberation and mortality outcomes in pediatric long‐term ventilation: A qualitative systematic review

Foy

Koncicki

Edwards

2020

Pediatric Pulmonology

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Objective: To provide a systematic review of liberation from positive pressure ventilation and mortality of children with chronic respiratory failure who used long-term invasive and noninvasive ventilation (LTV). Methods: Papers published from 1980 to 2018 were identified using Pubmed MEDLINE, Ovid MEDLINE, Embase, and Cochrane databases. Search results were limited to English-language papers with (a) patients less than 22 years at initiation, (b) patients who used invasive ventilation (IV) via tracheostomy or noninvasive ventilation (NIV), and (c) data on mortality or liberation from LTV. Data were presented using descriptive statistics; changes in outcomes over time were explored using linear regression. Follow-up variability, cohort heterogeneity, and insufficient data precluded combining data to estimate incidences or rates. Results: One hundred and thirty papers with 12 704 patients were included. The median number of patients was 37 (interquartile range [IQR] 17-74, range 6-3802). Twenty-five percent of patients were initiated on IV; 75% on NIV. The maximum follow-up ranged from 0.5 to 31.8 years (median 8.8 years). The median proportion of patients liberated in these papers was 3% (IQR 0%-21%). The median proportion of mortality was 18% (IQR 8%-27%). Proportions of liberation and mortality did not significantly change over time. Progression of underlying disease (44%), respiratory illness (19%), and LTV accident (11%) were the most common causes of death. Conclusions: These papers collectively show most patients survive for many years using LTV; in many subgroups, death is a more common outcome than liberation. However, the limitations of these papers preclude robust prognostication.

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Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015

Cited by 5 publications

References 39 publications

Long-term Non-Invasive Ventilation in Infants: A Systematic Review and Meta-Analysis

Long-term Non-Invasive Ventilation in Infants: A Systematic Review and Meta-Analysis

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Liberation and mortality outcomes in pediatric long‐term ventilation: A qualitative systematic review

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