Obstructive sleep apnea in children with cystic fibrosis on highly effective modulator therapy.

INTRODUCTION: Obstructive sleep apnea (OSA) is common in children with cystic fibrosis (CF). Highly effective modulator therapies (HEMT) have led to improved sinopulmonary disease, but whether this translates to a lower frequency of OSA is unknown. METHODS: We conducted a single center retrospective review of polysomnographic (PSG) data from 2012 to 2023 in patients aged 0-18 years with CF to assess frequency of OSA. Participants were classified based on HEMT status. Logistic regression was used to quantify the association between HEMT and OSA with p < .05 considered significant. RESULTS: Forty-nine children underwent PSG during the study period. Ten percent were of non-White race and 24% were of Hispanic ethnicity. Twenty-one children (43%) were on HEMT. These children were older than those not on modulators (11.6 vs. 6.4 years; p = .0001) but no different with respect to gender, race, nutritional status, or lung function. Twenty-eight (57%) children had OSA. Odds of having OSA were higher in the HEMT group (odds ratio [OR] = 4.3; 95% confidence interval [CI]: 1.2-14.9; p = .02). Tonsillar hypertrophy was associated with an increased odds of having OSA independent of modulator status (OR: 6.6; 95% CI: 1.2-37.9; p = .03). CONCLUSIONS: OSA is frequently diagnosed in the post-HEMT era in this large, racially diverse group of children with CF. Children on HEMT were older and more likely to have OSA as compared to those not on modulators but similar in nutritional status, lung function, and presence of upper airway pathology. Prospective studies are needed to further clarify the relationship between HEMT and OSA in children with CF.

Risk factors for obstructive sleep apnea in cystic fibrosis.

INTRODUCTION: Despite emerging data that suggest a high frequency and severity of obstructive sleep apnea (OSA) among patients with cystic fibrosis (CF), few of them are referred for polysomnography. Little is known about which patients with CF are at increased risk for OSA and which sleep symptoms merit investigation. METHODS: A single-center retrospective analysis of clinical and polysomnographic data from 2009, January 1 to October 31, 2020 in referred children and adults with CF. RESULTS: Among 74 patients (42 children, 32 adults) with CF, 39 (53%) had OSA. No age or sex differences emerged in OSA frequency. Mean apnea-hypopnea index (AHI) was higher among overweight/obese adults (n = 16) as compared with adults of normal weight or underweight (11.4 vs. 6.2; p = 0.005). Adults with (n = 10) versus without a crowded oropharynx had 13.0 times greater odds of OSA (95% confidence interval (CI): 1.4, 121.4; p = 0.02). Children with (n = 24) versus without tonsillar hypertrophy had a higher risk for OSA (OR = 5.2; 95% CI: 1.4, 19.8; p = 0.02), as did children with (n = 10) versus without symptomatic chronic sinusitis (OR = 5.8; 95% CI: 1.1, 32.1; p = 0.04). Neither snoring, excessive daytime sleepiness, nor lung disease severity were associated with OSA. CONCLUSION: Key risk factors for OSA may differ between children and adults with CF: upper airway pathology appears important in children and overweight/obesity or a crowded oropharynx in adults. Given the lack of sensitivity of snoring, daytime sleepiness, and lung disease severity, detection of OSA may require a low threshold for polysomnographic assessment in this vulnerable population.

Sleep-disordered breathing in cystic fibrosis.

INTRODUCTION: Cystic fibrosis (CF) is a life-shortening, genetic disease that affects approximately 30,000 Americans. Although patients frequently report snoring, mouth breathing, and insomnia, the extent to which sleep-disordered breathing (SDB) may underlie these complaints remains unknown. METHODS: Single-center retrospective review of polysomnography results from referred patients with and without CF individually-matched (1:2) for age, gender, race, and body mass index (BMI). RESULTS: Mean ages were 8.0 ± 5.2 (sd) and 35.9 ± 12.9 years, among 29 children and 23 adults with CF respectively. The CF and non-CF groups were well-matched in age and BMI. Subjects with vs. without CF had three times greater odds of moderate-severe SDB (apnea-hypopnea index (AHI) ≥ 5 in children, ≥ 15 in adults) (p = 0.01). Nocturnal oxygen saturation nadir (Minimum SpO2) was lower among CF vs. non-CF groups (p = 0.002). For every 1-unit increase in AHI, the decline in Minimum SpO2 was larger for subjects with vs. without CF (p = 0.05). In subjects with CF, forced expiratory volume in 1 s percent predicted (FEV1 PPD) was associated with Minimum SpO2 (Pearson r = 0.68, p < 0.0001) but not AHI (r = -0.19, p = 0.27). For every 1-unit increase in AHI, magnitude of decline in Minimum SpO2 was larger for those with low vs. normal FEV1 PPD (p = 0.01). CONCLUSION: Severity of SDB may be worse among referred patients with vs. without CF. The SDB may modify the relationship between CF lung disease and nocturnal hypoxemia. Markers of lung disease severity including lung function do not predict SDB severity, suggesting the need for routine polysomnography to screen for this sleep disorder.

Impact of home spirometry on medication adherence among adolescents with cystic fibrosis.

OBJECTIVE: Medication adherence among adolescents with cystic fibrosis (CF) is often suboptimal and this has significant impact on their health and quality of life. The purpose of the study was to evaluate the impact of frequent home pulmonary function (PFT) monitoring on medication adherence among adolescents with CF. HYPOTHESIS: We hypothesized that weekly home PFT monitoring will improve adherence while not significantly adding to the treatment burden. METHODS: Individuals aged 12-21 years with CF were provided a spirometer to measure PFTs weekly for 1 year. Results were reviewed weekly via telephone. PFT data were downloaded from the device during quarterly clinic visits. Adherence was calculated from prescription refill data and compared to the previous year. Perceptions of treatment burden were assessed using the CF questionnaire-revised (CFQ-R) quality of life measure. Health outcome measures including nutritional status and PFTs from clinic were collected for the study period and the year prior. RESULTS: Thirty-nine subjects participated in the study. Mean age was 15.89 ± 2.18 years and 54% were female. Mean adherence to weekly spirometry monitoring was 59.47 ± 24.60%. Values generated on the device showed good correlation with those obtained in clinic. Mean medication possession ratio (MPR) was 60% in the previous year and 65% during the study (P = 0.04). Mean treatment burden scaled score on the CFQ-R was 68 at enrollment and 66 at study completion (P = 0.14). CONCLUSIONS: Frequent home PFT monitoring is feasible in CF adolescents and could successfully improve medication adherence without significantly impacting treatment burden.

Sleep disturbances and their impact in pediatric cystic fibrosis.

Cystic fibrosis is a chronic, life-shortening illness that affects multiple systems and results in frequent respiratory infections, chronic cough, fat malabsorption and malnutrition. Poor sleep is often reported by patients with cystic fibrosis. Although objective data to explain these complaints have been limited, they do show poor sleep efficiency and frequent arousals. Abnormalities in gas exchange are also observed during sleep in patients with cystic fibrosis. The potential impact of these abnormalities in sleep on health and quality of life remains largely unstudied. This review summarizes what is known about sleep in children with cystic fibrosis, and implications for clinical practice. This report also highlights new evidence on the impact of sleep problems on disease-specific outcomes such as lung function, and identifies areas that need further exploration.

The Use of Home Spirometry in Pediatric Cystic Fibrosis Patients: Results of a Feasibility Study.

Medication adherence is poor among pediatric cystic fibrosis (CF) patients, with adolescents having one of the lowest adherence rates. We wanted to identify an adherence intervention that would be acceptable to CF adolescents and assess its feasibility. We surveyed 40 adolescents with CF and asked about barriers to and motivators for their own adherence and to generate ideas for potential adherence interventions. Since most of the respondents chose frequent spirometry at home and medication reminders for interventions, we selected 5 subjects, 10 to 14 years of age, with CF to test the feasibility of home spirometry and medication reminders in pediatric CF patients. This article summarizes the results of both the survey and the feasibility pilot study.

A five-year retrospective analysis of adherence in cystic fibrosis.

OBJECTIVE: We conducted a retrospective analysis of medication adherence and health outcomes over a 5-year period in children with cystic fibrosis (CF). METHODS: Adherence was calculated for several commonly prescribed CF medications by comparing the actual number of times a prescription was filled in a 12-month period to the number of times it should have been filled based on the prescribed supply. We used prescription refill histories as documented by three major specialty pharmacies used by our patients. A binomial mixed effects model was used to investigate the longitudinal association between adherence and age group (0-5, 6-12, and 13-21 years) with gender, year in the study, lung function, body mass index (BMI), and annual hospitalization rate included as potential confounders. RESULTS: The 0-5 years group had the highest overall adherence (P = 0.009). The 6-12 years group had significantly better adherence to inhaled medications as compared to oral medications (P = 0.020). Within each group, for any given year in the study, having a higher BMI was associated with greater odds of adherence (P < 0.0001). There were no associations between adherence and gender, lung function or hospitalization rate (P > 0.05). CONCLUSIONS: There are significant age differences in adherence. Younger patients have better overall adherence likely secondary to increased parental supervision. Having better nutritional status is associated with improved adherence.

Children with partial IgA deficiency: clinical characteristics observed in the pediatric rheumatology clinic.

Literature is lacking on partial IgA deficiency. In this study, the authors propose to describe the clinical manifestations of patients with partial IgA deficiency. Methods. The authors conducted a retrospective chart review of 13 patients with partial IgA deficiency followed at the pediatric rheumatology clinic at Robert Wood Johnson Medical School. They looked for the presence of rashes, joint pain, joint swelling, and morning stiffness. The authors also examined charts for a history of frequent infections, allergies, and the presence of elevated antinuclear antibody. Results. Eleven out of the 13 patients complained of joint pain, joint swelling, or morning stiffness. Six patients carried a diagnosis of a definitive rheumatic disease. Four patients suffered from frequent infections and 2 patients reported allergies. Conclusion. Partial IgA deficiency appears to be associated with rheumatic diseases and complaints of joint pain, joint swelling, and morning stiffness. A larger study is needed to confirm these results.