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Newborn screening (NBS) for cystic fibrosis (CF) has enabled earlier diagnosis and has improved nutritional and growth-related outcomes in children with CF. For those with a positive NBS for CF that do not meet the diagnostic criteria for CF, the clinical entity called CFTR-Related Metabolic Syndrome (CRMS) or CF Screen- Positive, Inconclusive Diagnosis (CFSPID) is used. Although most children with CRMS remain relatively asymptomatic, studies have shown that between 11% and 48% of these patients may eventually progress to a diagnosis of CF over time. Although the CF Foundation guidelines for CRMS management and European CF Society guidelines for CFSPID have some similarities, there are also some differences. Here, we review challenging case scenarios that highlight remaining gaps in CRMS guidelines, thus supporting the need to update and unify existing guidelines.
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Fibrose Cística , Síndrome Metabólica , Recém-Nascido , Criança , Humanos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Síndrome Metabólica/diagnóstico , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Triagem NeonatalRESUMO
PURPOSE: Noninvasive positive pressure ventilation (NPPV) may permit tracheostomy decannulation (TD) in patients with congenital central hypoventilation syndrome (CCHS) requiring nocturnal positive pressure ventilation via tracheostomy (PPV-T). There is limited evidence on optimal strategies for transitioning patients from PPV-T to NPPV. This study aimed to describe the clinical course and outcome of children with CCHS who underwent TD and transitioned from PPV-T to NPPV. METHODS: Retrospective review was conducted on patients with CCHS using nocturnal PPV-T who underwent TD to NPPV. The results of clinical evaluations, airway endoscopy, polysomnography, and clinical course leading to TD were analyzed. RESULTS: We identified 3 patients with CCHS aged 8-17 years who required PPV-T only during sleep. Patients underwent systematic multidisciplinary evaluations with a pediatric psychologist, pulmonologist, sleep physician, and otolaryngologist utilizing a TD algorithm. These included evaluation in the sleep clinic, NPPV mask fitting and desensitization, endoscopic airway evaluation, daytime tracheostomy capping, acclimatization to low-pressure NPPV, polysomnography with capped tracheostomy and NPPV titration, and if successful, TD. All patients underwent successful TD following optimal titration of NPPV during polysomnography. The duration to TD from decision to pursue NPPV was between 2.4 and 10.6 months, and the duration of hospitalization for TD was between 4 and 5 days. There were no NPPV-related complications; however, all patients required surgical closure of tracheocutaneous fistula. CONCLUSION: NPPV may be an effective and feasible option for patients with CCHS requiring PPV-T during sleep and permits TD. In patients with CCHS, a systematic multidisciplinary algorithm may optimize successful transition to NPPV and TD.
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Remoção de Dispositivo , Hipoventilação/congênito , Apneia do Sono Tipo Central/terapia , Traqueostomia/métodos , Adolescente , Criança , Humanos , Hipoventilação/terapia , Masculino , Respiração com Pressão Positiva/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Plastic bronchitis (PB) is a rare and life-threatening complication encountered in several disease states that leads to airway obstruction by branching casts. PB is most often reported in children with cyanotic congenital heart disease where recurrence is common, and mortality is high. There is limited data on optimal management strategies or recurrence of non-structural heart disease-related PB in children. We describe the clinical features, management, and outcomes in our cohort of children with non-structural heart disease-related PB. Among the 12 identified patients, asthma was the most common (67%) diagnosis. Ventilatory requirements ranged from room air to one patient who required extracorporeal membrane oxygenation (ECMO). Most patients (92%) required bronchoscopy, and cryotherapy was successfully utilized in two patients to relieve refractory obstructive airway casts. All patients received chest physiotherapy, and 11 patients were treated with two or more medications. There was one mortality despite ECMO, and one-third had recurrent PB, all of whom had asthma.Conclusion: Asthma is a risk factor for recurrent PB. Bronchoscopic interventions including cryotherapy are safe and effective treatment options in patients with refractory PB. What is Known: ⢠Plastic bronchitis is a rare but life-threatening cause of airway obstruction caused by branching casts that are generally reported in patients with congenital heart disease. What is New: ⢠In children without structural heart disease, asthma is a risk factor for recurrent plastic bronchitis. Cryotherapy via bronchoscopy is a safe and effective intervention in patients with refractory plastic bronchitis.
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Asma , Bronquite , Cardiopatias Congênitas , Bronquite/terapia , Broncoscopia , Criança , Cardiopatias Congênitas/complicações , Humanos , PlásticosRESUMO
Single- and multiple-breath washout tests (SBW and MBW) measure ventilation inhomogeneity, but the relationship between them is unclear. Forty-three subjects with cystic fibrosis (CF) and healthy controls (HC) 8-21 years of age were recruited (CF = 30 and HC = 13) and performed nitrogen MBW, vital capacity SBW, spirometry, and plethysmography. Mean phase III slope from SBW (SIII) and lung clearance index (LCI) were significantly different between CF and HC (p = 0.017 and p < 0.0001, respectively). Based on Pearson correlation, SIII and LCI showed strong correlation (ρ = 0.81, p < 0.0001). Both SIII and LCI significantly correlated with spirometry (all p < 0.05). Among CF subjects with normal FEV1 (≥ 80%; n = 17), 76% (n = 13) had normal SIII but abnormal LCI. We conclude that LCI can be abnormal despite normal SIII and FEV1 in CF children. Although LCI and SIII showed strong correlation, our results suggest that LCI is a better test to detect ventilation inhomogeneity in CF children with normal FEV1.
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Testes Respiratórios/métodos , Fibrose Cística/fisiopatologia , Testes de Função Respiratória , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Masculino , Pletismografia , Adulto JovemRESUMO
In preschool children with cystic fibrosis (CF), lung clearance index (LCI) is a sensitive test to detect early lung disease. Some children with CF screen positive, inconclusive diagnosis (CFSPID) may in time develop clinical features of CF. LCI has not been studied in CFSPID children. LCI and spirometry were performed in preschool age children with CF, CFSPID, and non-CF healthy controls (HCs) during two visits. Fifty-four preschool age children (HC n = 18, CFSPID n = 17, and CF n = 19) were tested. Mean LCI from the CFSPID group was not statistically different from HC (p = 0.49), but significantly different when compared to CF (p = 0.04). LCI was abnormal in 2 CFSPID children who carried potentially deleterious CFTR variants. Mean forced expiratory volume in 1 s (FEV1) was not statistically different between CFSPID and CF (p = 0.26). LCI can potentially detect early lung disease in CFSPID individuals as part of assessing their risk for reclassification to CF diagnosis.
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Fibrose Cística/fisiopatologia , Volume Expiratório Forçado/fisiologia , Testes Respiratórios , Criança , Pré-Escolar , Fibrose Cística/diagnóstico , Feminino , Humanos , Masculino , Programas de Rastreamento , Fluxo Máximo Médio Expiratório , Testes de Função RespiratóriaRESUMO
Chronic lung infections in cystic fibrosis (CF) could be treated more effectively if the effects of antimicrobials on pathogens in situ were known. Here, we compared changes in the microbial community composition and pathogen growth rates in longitudinal studies of seven pediatric CF patients undergoing intravenous antibiotic administration during pulmonary exacerbations. The microbial community composition was determined by counting rRNA with NanoString DNA analysis, and growth rates were obtained by incubating CF sputum with heavy water and tracing incorporation of deuterium into two branched-chain ("anteiso") fatty acids (a-C15:0 and a-C17:0) using gas chromatography-mass spectrometry (GC/MS). Prior to this study, both lipids were thought to be specific for Staphylococcaceae; hence, their isotopic enrichment was interpreted as a growth proxy for Staphylococcus aureus Our experiments revealed, however, that Prevotella is also a relevant microbial producer of a-C17:0 fatty acid in some CF patients; thus, deuterium incorporation into these lipids is better interpreted as a more general pathogen growth rate proxy. Even accounting for a small nonmicrobial background source detected in some patient samples, a-C15:0 fatty acid still appears to be a relatively robust proxy for CF pathogens, revealing a median generation time of â¼1.5 days, similar to prior observations. Contrary to our expectation, pathogen growth rates remained relatively stable throughout exacerbation treatment. We suggest two straightforward "best practices" for application of stable-isotope probing to CF sputum metabolites: (i) parallel determination of microbial community composition in CF sputum using culture-independent tools and (ii) assessing background levels of the diagnostic metabolite.IMPORTANCE In chronic lung infections, populations of microbial pathogens change and mature in ways that are often unknown, which makes it challenging to identify appropriate treatment options. A promising tool to better understand the physiology of microorganisms in a patient is stable-isotope probing, which we previously developed to estimate the growth rates of S. aureus in cystic fibrosis (CF) sputum. Here, we tracked microbial communities in a cohort of CF patients and found that anteiso fatty acids can also originate from other sources in CF sputum. This awareness led us to develop a new workflow for the application of stable-isotope probing in this context, improving our ability to estimate pathogen generation times in clinical samples.
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Antibacterianos/administração & dosagem , Fibrose Cística/tratamento farmacológico , Ácidos Graxos/análise , Pneumopatias/tratamento farmacológico , Infecções Estafilocócicas/tratamento farmacológico , Staphylococcus aureus/crescimento & desenvolvimento , Adolescente , Antibacterianos/farmacologia , Criança , Fibrose Cística/microbiologia , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Marcação por Isótopo , Estudos Longitudinais , Pneumopatias/microbiologia , Masculino , Microbiota , Escarro/efeitos dos fármacos , Escarro/metabolismo , Escarro/microbiologia , Staphylococcus aureus/efeitos dos fármacos , Resultado do Tratamento , Adulto JovemAssuntos
Tosse/diagnóstico , Adolescente , Criança , Tosse/etiologia , Diagnóstico Diferencial , HumanosRESUMO
Congenital disorders of ventilatory control typically manifest as central apneas, periodic breathing, and hypoventilation in the neonatal period, but some may present at a later age. Obstructive apneas may be the initial presentation, and some may have associated autonomic nervous system dysfunction. Individuals with these disorders can have absent or impaired ventilatory and arousal responses to hypoxemia and hypercapnia. This article discusses the presentation, pathophysiology, evaluation, and management of congenital central hypoventilation syndrome, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome, Prader-Willi syndrome, and myelomeningocele.
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Hipoventilação , Apneia do Sono Tipo Central , Humanos , Apneia do Sono Tipo Central/terapia , Apneia do Sono Tipo Central/fisiopatologia , Apneia do Sono Tipo Central/diagnóstico , Hipoventilação/congênito , Hipoventilação/terapia , Hipoventilação/fisiopatologia , Hipoventilação/diagnóstico , Síndrome de Prader-Willi/fisiopatologia , Síndrome de Prader-Willi/terapia , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Recém-NascidoRESUMO
Congenital central hypoventilation syndrome (CCHS), a rare disease caused by paired-like homeobox 2B variants, affects control of breathing. We report on a 21-month-old boy with CCHS caused by a novel nonpolyalanine repeat mutation, neuroblastoma, severe obstructive and central sleep apnea, and sleep-related hypoxemia without hypoventilation. At 10 months, due to persistent central sleep apnea during serial polysomnography, bilevel positive airway pressure therapy was initiated despite the absence of hypoventilation. Nonpolyalanine repeat mutations are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and neural crest tumors; however, our patient had a relatively milder respiratory phenotype requiring sleep-only assisted ventilation without tracheostomy. Although alveolar hypoventilation is the hallmark of CCHS, our patient lacked hypoventilation. Bilevel positive airway pressure could be considered in some infants with CCHS requiring sleep-only assisted ventilation for tracheostomy avoidance. Our case demonstrates the expanding phenotypic spectrum in CCHS and the importance of formulating an individualized care plan. CITATION: Fain ME, Raghunandan S, Pencheva B, Leu RM, Kasi AS. Images: atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea. J Clin Sleep Med. 2024;20(3):478-481.
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Hipoventilação/congênito , Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Masculino , Lactente , Humanos , Hipoventilação/complicações , Hipoventilação/genética , Hipoventilação/terapia , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/terapia , SonoRESUMO
Congenital central hypoventilation syndrome is a rare genetic disorder that affects control of breathing caused by variants in the paired-like homeobox 2B (PHOX2B) gene. During pregnancy, women with congenital central hypoventilation syndrome are at risk for hypoventilation and require frequent assessments of oxygenation and ventilation during wakefulness and sleep on their ventilator. This could potentially lead to adjustments in the ventilator settings or a change in the assisted ventilation modality. We report the case of a 31-year-old pregnant woman with congenital central hypoventilation syndrome and an implanted cardiac pacemaker who underwent prenatal genetic testing for congenital central hypoventilation syndrome and who delivered a healthy newborn by cesarean delivery. She received collaborative multidisciplinary care from a team that included specialists in obstetrics, maternal and fetal medicine, medical genetics, sleep and pulmonary medicine, cardiology, and anesthesiology. She used bilevel positive airway pressure therapy throughout pregnancy and after cesarean delivery without requiring adjustments in the bilevel positive airway pressure settings. Our case highlights the importance of multidisciplinary care in women with congenital central hypoventilation syndrome during pregnancy to optimize pregnancy and fetal outcomes.
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Background: Congenital central hypoventilation syndrome (CCHS), a rare disease caused by variants in the paired-like homeobox 2B (PHOX2B) gene, affects regulation of respiration necessitating lifelong assisted ventilation (AV). Most patients require full-time AV during infancy and some patients may sustain adequate spontaneous ventilation during wakefulness and change AV modalities at a later age. The aims of this study were to assess the changes in duration and modalities of AV, long-term respiratory outcomes, and to correlate them with PHOX2B genotypes. Methods: We conducted a retrospective study of patients with CCHS treated at our institution between January 1997 and May 2022. Results analyzed included: clinical presentation, PHOX2B genotype, modality and duration of AV at diagnosis and follow-up, survival, and transition to adult care. Results: We identified 30 patients with CCHS-8 with PHOX2B nonpolyalanine repeat mutations (NPARMs), 21 with polyalanine repeat mutations (PARMs), and 1 with unknown PHOX2B genotype. The median age at presentation was 0.25 months (IQR 0.1-0.7 months). At diagnosis of CCHS, 24 (80%) patients required continuous AV and 28 (93%) received AV via tracheostomy. Twenty-six patients required sleep-only AV at a median age of 9 months (IQR 6-14 months). Nine patients requiring sleep-only AV underwent tracheostomy decannulation at a median age of 11.2 years (IQR 5.9-15.7 years) and used noninvasive positive pressure ventilation or diaphragm pacing. There was insufficient evidence to conclude that patients with PARMs and NPARMs differed by age at presentation (P = .39), tracheostomy (P = .06), and transition to sleep-only AV (P = .9). Six patients transitioned to adult care, 23 continued receiving pediatric care, and 1 patient died due to complications from Hirschsprung's disease. Conclusion: Our study demonstrates prolonged survival and good long-term respiratory outcomes possibly related to the early diagnosis of CCHS, optimizing AV strategies, and multidisciplinary care. The increasing number of patients attaining adulthood highlights the necessity for multidisciplinary care for adults with CCHS.
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STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by impaired control of breathing caused by paired-like homeobox 2B (PHOX2B) gene variants, necessitating lifelong assisted ventilation (AV). This study aimed to assess sleep quality in patients with CCHS and their parents using sleep questionnaires. METHODS: Parents of patients with CCHS completed the Pittsburgh Sleep Quality Index (PSQI) regarding their sleep and the Sleep Disturbance Scale for Children (SDSC) regarding their child's sleep. RESULTS: Twenty participants completed the questionnaires. The median (interquartile range) ages of the parents and patients were 41.5 (38.5-51.5) and 11.5 (7.4-16.7) years, respectively. The median (interquartile range) PSQI and SDSC scores were elevated at 6.5 (4-10) and 41.5 (34-51.5), respectively, suggesting that parents and patients with CCHS can experience sleep disturbances and poor sleep quality. There were no significant differences in SDSC (P = 1.0) and PSQI (P = .76) scores for AV with or without tracheostomy. Similarly, there were no significant differences in SDSC (P = .22) and PSQI (P = .34) scores based on PHOX2B genotypes. There was a moderately strong, significant, and positive correlation between the CCHS SDSC scores and parental PSQI scores (r = .48, P = .03), suggesting that sleep disturbances in patients with CCHS were associated with poor parental sleep quality. There was no difference in the median parental sleep duration between those with and without nighttime home nursing (P = .09). CONCLUSIONS: Patients with CCHS and their parents are at risk for sleep disturbances regardless of their AV modality and PHOX2B genotype. In addition to AV management, patients with CCHS and their parents should be assessed for sleep disturbances. CITATION: Finch CE, Leu RM, Harford K-L, Westbrook AL, Kasi AS. Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(3):549-554.
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Apneia do Sono Tipo Central , Transtornos do Sono-Vigília , Criança , Humanos , Cuidadores , Apneia do Sono Tipo Central/genética , Hipoventilação/congênito , Fatores de Transcrição/genética , Pais , Sono , Proteínas de Homeodomínio/genética , MutaçãoRESUMO
The evaluation of higher-risk infants with brief resolved unexplained events and term infants with central sleep apnea can be clinically challenging due to the multitude of potential etiologies. We report a 7-day-old term neonate hospitalized for evaluation of brief resolved unexplained events with oxygen desaturations during sleep. Polysomnography showed central sleep apnea, hypoxemia, hypoventilation, periodic breathing, and mild obstructive sleep apnea. Following initial evaluations and while awaiting genetic testing, primary central sleep apnea of infancy was suspected and caffeine was initiated. Three days after initiating caffeine, polysomnography showed resolution of hypoxemia, hypoventilation, obstructive sleep apnea, and periodic breathing and improved central sleep apnea. The central apnea-hypopnea index reduced from 58 to 6.8 events/h. Although caffeine is utilized in apnea of prematurity, there is limited literature regarding caffeine in term infants with apnea. Our case demonstrates that in term infants with primary central sleep apnea of infancy, immature regulation of respiration may persist and a trial of caffeine could be considered. CITATION: Shah AS, Leu RM, Shah SP, Martinez F, Kasi AS. Caffeine therapy for central sleep apnea, hypoxemia, and hypoventilation in a term neonate. J Clin Sleep Med. 2023;19(5):1005-1008.
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Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Humanos , Lactente , Cafeína , Hipoventilação , Hipóxia , Apneia Obstrutiva do Sono/terapiaRESUMO
BACKGROUND: Viral respiratory infections trigger pulmonary exacerbations (PEs) in children with cystic fibrosis (CF), but their clinical impact is not well understood. METHODS: A retrospective review of pediatric patients with CF who underwent nasopharyngeal respiratory viral panel testing during hospitalization for a PE between 2011 and 2018 was conducted. Patients were dichotomized into viral-positive and viral-negative groups. The results of spirometry, respiratory cultures, duration of hospitalization, and risk for subsequent PEs were analyzed. RESULTS: Ninety-five patients had 210 hospitalizations for PE (viral-positive = 71/210, 34%) during the study period. Rhinovirus/enterovirus was the most common virus (52/71, 73%) identified. Viral-positive patients were younger (p < 0.001), had higher baseline forced expiratory volume in 1 s (FEV1) (p = 0.037), continued to maintain higher FEV1 at 3 and 6 months following PE (p = 0.003 and 0.002, respectively), and had a shorter duration of hospitalization (p = 0.006) compared to the viral-negative group. There was no difference between the two groups in the rate of recovery of FEV1 at 3 and 6 months following PE (p = 0.71 and 0.405, respectively), time to the next PE (hazard ratio = 1.34, p = 0.157), number of subsequent PEs in 6 months (p = 0.99), or Pseudomonas aeruginosa (PA) acquisition (p = 0.707). CONCLUSIONS: In this single pediatric CF center cohort, one-third of PEs requiring hospitalization were associated with a viral infection, with rhinovirus/enterovirus being the most common. Viral-positive PEs were not associated with a greater decline or delayed recovery of lung function, increased risk for PA acquisition, shortened duration to next PE, longer hospital stay, or an increase in the frequency of subsequent PEs in 6 months compared to viral-negative PEs.
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Fibrose Cística , Pneumonia , Infecções por Pseudomonas , Viroses , Humanos , Criança , Fibrose Cística/complicações , Pulmão , Volume Expiratório Forçado , Pneumonia/complicações , Viroses/complicações , Viroses/epidemiologia , Pseudomonas aeruginosa , Infecções por Pseudomonas/complicaçõesRESUMO
BACKGROUND: Cryoextraction via flexible bronchoscopy (FB) can be used to alleviate airway obstruction due to blood clots, casts, mucus, and foreign bodies. There is limited literature regarding the utility of cryoextraction to restore airway patency in critically ill children, especially on extracorporeal membrane oxygenation (ECMO). The aims of this study were to describe the clinical course and outcomes of children who underwent cryoextraction via FB. METHODS: A singlecenter retrospective review of children who underwent cryoextraction via FB between 2017 and 2021 was conducted. The analyzed data included diagnoses, indications for cryoextraction, respiratory support modalities, FB and chest imaging results, and outcomes. RESULTS: Eleven patients aged 3-17 years underwent a total of 33 cryoextraction sessions via FB. Patients required ECMO (n = 9) or conventional mechanical ventilation (CMV) for pneumonia, pulmonary hemorrhage, pulmonary embolism, asthma exacerbation, and cardiorespiratory failure following cardiac surgery. One patient underwent elective FB and cryoextraction for plastic bronchitis. Indications for cryoextraction included airway obstruction due to tracheobronchial thrombi (n = 8), mucus plugs (n = 1), or plastic bronchitis (n = 2). Cryoextraction via FB was performed on patients on ECMO (n = 9) and CMV (n = 2) with 6 patients requiring ≥3 cryoextraction sessions for airway obstruction. There were no complications related to cryoextraction. Patient outcomes included partial (n = 5) or complete (n = 6) restoration of airway patency with ECMO decannulation (n = 5) and death (n = 4) due to critical illness. CONCLUSIONS: Cryoextraction via FB is an effective intervention that can be utilized in critically ill children with refractory tracheobronchial obstruction to restore airway patency and to facilitate liberation from ECMO.
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Obstrução das Vias Respiratórias , Bronquite , Infecções por Citomegalovirus , Humanos , Criança , Broncoscopia/métodos , Estado Terminal , Resultado do Tratamento , Bronquite/etiologia , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/cirurgia , Estudos Retrospectivos , Plásticos , Infecções por Citomegalovirus/etiologiaRESUMO
Background: The RAM cannula® consists of nasal prongs that can be used to administer oxygen, continuous, and bilevel positive airway pressure therapies. Studies have reported the efficacy and utility of the RAM cannula in inpatients requiring noninvasive ventilation (NIV); however, there is limited literature on the use of the RAM cannula to provide NIV in the outpatient setting. Objectives: This study aimed to describe the clinical features and outcomes of children who used NIV via RAM cannula in the outpatient setting. Design: Retrospective review. Methods: We conducted a retrospective review of children treated with outpatient NIV via RAM cannula at our institution between January 2010 and March 2023. The analyzed data included age, diagnoses, indications for NIV, duration of RAM cannula use, complications, and outcomes at 6 months. Results: We identified 20 patients who used outpatient NIV via RAM cannula during the study period. The median age at initiation of NIV via RAM cannula was 5.8 months (IQR 2.4-9.9 months). Indications for NIV included sleep-related hypoventilation (15%), restrictive lung disease (25%), obstructive sleep apnea (45%), and chronic respiratory failure (50%), with 6 patients having ⩾2 indications for NIV. RAM cannula was utilized for inability to tolerate conventional NIV interfaces (80%), to alleviate dyspnea (60%), and to avoid tracheostomy (55%). Patients used NIV via RAM cannula for a median duration of 7.7 months (IQR 3.7-20.6 months). Patient outcomes included ongoing usage of RAM cannula (55%), changing to conventional NIV interfaces (15%) or oxygen (10%), weaning off respiratory support (5%), and death (15%). There were no complications related to using the RAM cannula. Conclusion: Our study demonstrates the utility of outpatient NIV via RAM cannula in children with a variety of diagnoses until clinical improvement or tolerance of conventional interfaces, and for avoidance of tracheostomy.
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Background: The clinical course of COVID-19 in patients with congenital central hypoventilation syndrome (CCHS) is unknown. Methods: We conducted a cross-sectional questionnaire study in 43 patients with CCHS who had COVID-19. Results: The median age of patients was 11 [interquartile range (IQR) 6-22] years and 53.5% required assisted ventilation (AV) through tracheostomy. Disease severity ranged from asymptomatic infection (12%) to severe illness with hypoxemia (33%) and hypercapnia requiring emergency care/hospitalization (21%), increased AV duration (42%), increased ventilator settings (12%), and supplemental oxygen demand (28%). The median duration to return to baseline AV (n = 20) was 7 (IQR 3-10) days. Patients with polyalanine repeat mutations required increased AV duration compared with those with nonpolyalanine repeat mutations (P = 0.048). Patients with tracheostomy required increased oxygen during illness (P = 0.02). Patients aged ≥18 years took longer to return to baseline AV (P = 0.04). Conclusions: Our study suggests that all patients with CCHS should be vigilantly monitored during COVID-19 illness.
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COVID-19 , Proteínas de Homeodomínio , Humanos , Adolescente , Adulto , Criança , Adulto Jovem , Proteínas de Homeodomínio/genética , Fatores de Transcrição/genética , Estudos Transversais , COVID-19/complicações , OxigênioRESUMO
The Philips Respironics recall notification issued in June 2021 affected many of their positive airway pressure devices and mechanical ventilators including the Trilogy 100 and 200 ventilators that are often utilized in children using home positive pressure ventilation via tracheostomy (PPV-T). Optimal strategies to replace ventilators in children using home PPV-T affected by the Philips recall are unknown. We conducted a retrospective study of children using home PPV-T with recalled Trilogy ventilators who underwent inpatient ventilator change to non-recalled portable home ventilators (PHV) using our collaborative institutional protocol. During the study period, there were 40 children using PPV-T with recalled Trilogy ventilators and 19 patients underwent inpatient ventilator change either during an elective hospitalization (n = 8) or during an unscheduled or postoperative hospitalization (n = 11). The median duration of hospitalization for ventilator change was 2 days (interquartile range: 6 days) and generally 1 day for patients admitted solely for ventilator change. In children using PPV-T with recalled Trilogy ventilators, a systematic protocol collaborating with the patients, physicians, and durable medical equipment companies may optimize transition to nonrecalled PHVs.
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Serviços de Assistência Domiciliar , Respiração Artificial , Criança , Humanos , Respiração com Pressão Positiva , Estudos Retrospectivos , Ventiladores MecânicosRESUMO
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and potentially lethal disorder of respiratory control, autonomic, and hypothalamic dysfunction of unknown etiology. We report a 15-year-old girl with ROHHAD who developed hyperphagia and rapid weight gain of 16 kg between 2.5 and 4 years of age and cardiorespiratory arrest at 4 years. Initial polysomnography showed central sleep apnea and severe oxygen desaturations without hypoventilation. Mild obstructive sleep apnea and intermittent hypoxemia were identified at 4.5 years, following which nocturnal bilevel positive airway pressure therapy was initiated. At 6 years, she developed sleep-related hypoventilation, and subsequent polysomnograms continued to show obstructive sleep apnea and hypoventilation requiring bilevel positive airway pressure. Clinicians interpreting polysomnograms should become familiar with the evolution of sleep-disordered breathing in ROHHAD and that hypoventilation may develop over time. Our case highlights the importance of serial polysomnography in patients with ROHHAD and optimal ventilatory management. CITATION: Ghosh R, Malik M, Daley TC, Kasi AS. Images: Sleep-disordered breathing and hypoventilation in a child with obesity and hypothalamic dysfunction. J Clin Sleep Med. 2022;18(1):339-342.
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Doenças Hipotalâmicas , Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Adolescente , Criança , Feminino , Humanos , Doenças Hipotalâmicas/complicações , Doenças Hipotalâmicas/diagnóstico , Hipoventilação/complicações , Hipoventilação/terapia , Obesidade/complicações , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/terapia , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/terapiaRESUMO
BACKGROUND: Patients with congenital central hypoventilation syndrome (CCHS) can develop hypoxemia and hypercapnia during exercise. However, there is limited literature on cardiorespiratory responses during submaximal exercise and their correlation with paired-like homeobox 2B (PHOX2B) genotype. OBJECTIVES: To assess oxygen saturation (SpO2 ), end-tidal carbon dioxide (ETCO2 ), heart rate (HR), and 6-min walk distance (6MWD) during a 6-min walk test (6MWT) in CCHS subjects and to correlate them with PHOX2B genotypes and assisted ventilation (AV) via tracheostomy. METHODS: In this cross-sectional study, subjects with CCHS performed 6MWT with continuous pulse oximetry, HR, and capnography recorded before and during the 6MWT. Medical records were reviewed for PHOX2B genotype and phenotype data. Patients were categorized based on PHOX2B genotype and AV via tracheostomy. RESULTS: Fifteen subjects aged 10.5 (interquartile range 7.9-16.2) years completed the 6MWT. Nine subjects used AV via tracheostomy. Seven (47%) subjects developed hypoxemia (SpO2 ≤ 90%, n = 7) and hypoventilation (ETCO2 ≥ 50 mmHg, n = 3) during the 6MWT. There was a significant decline from baseline SpO2 , increase from baseline ETCO2 , and increase in HR during the 6MWT (all p < 0.05). Subjects had decreased median percent predicted 6MWD (59.7% [50.6%-62.5%]). Nadir SpO2 (p = 0.029) and peak ETCO2 (p = 0.046) differed significantly between PHOX2B genotype groups but 6MWD did not (p = 0.8). CONCLUSION: Despite normal oxygenation and ventilation at rest and during sleep on AV, patients with CCHS can develop hypoxemia and hypercapnia during submaximal exercise. Our study highlights the importance of assessing ventilatory responses during submaximal exercise in patients with CCHS regardless of their PHOX2B genotype.