Nap polysomnography in infants with laryngomalacia as a tool to predict treatment strategy.

PURPOSE: This study aimed to investigate the role of nap polysomnography (NPSG) in predicting treatment strategies for infants with moderate to severe laryngomalacia and to explore the association between obstructive sleep apnea (OSA) severity, weight gain, and laryngomalacia severity. METHODS: A retrospective analysis was conducted on infants diagnosed with moderate to severe laryngomalacia who underwent NPSG between January 2019 and June 2023. Clinical variables, NPSG parameters, and treatment decisions were collected. Weight gain rate and its correlation with NPSG indices were assessed. Logistic regression analyses were performed to predict treatment strategies based on NPSG findings. RESULTS: Of the 39 infants included (median age: 3.3 months), 77% exhibited OSA, with 69% having moderate to severe OSA [apnea-hypopnea index (AHI) > 5/h]. Weight gain rate correlated negatively with indices of OSA severity, including the hypopnea index (HI) and the AHI. In a multiple logistic regression analysis incorporating the severity of OSA (AHI), weight gain rate, and laryngomalacia severity, only AHI predicted the decision for surgical or non-invasive ventilation treatment (OR = 2.1, CI95 [1.6; 2.8], p ≤ 10-4). The weight gain rate was predicted (r2 = 0.28) by the AHI and the presence of retractions of auxiliary inspiratory muscles. CONCLUSION: This study underscores the importance of NPSG in assessing infants with moderate to severe laryngomalacia. The AHI from NPSG emerged as a potential predictor for treatment decisions and weight gain rate, emphasizing its clinical relevance. These findings advocate incorporating NPSG into the diagnostic and management process for infants with laryngomalacia.

Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.

RATIONALE: The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders. OBJECTIVE: The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France. METHODS: Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019. MAIN RESULTS: The data of 182 patients (55% boys, median age: 10.2 [5.4;14.8] years old [range: 0.3-25]) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 [6;10] hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients. CONCLUSION: CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.

Determinants of awake oropharyngeal volume reduction between sitting and supine positions in children evaluated for snoring.

Pharyngeal collapsibility is a major determinant of obstructive sleep apnea (OSA) pathophysiology, but its anatomical predictors in children are largely unknown. We hypothesised that anatomical (tonsillar hypertrophy, narrow palate, nasal obstruction, dental/skeletal malocclusion, obesity) and OSA-related (apnea-hypopnea index, AHI) parameters could be related to a measure of awake pharyngeal collapsibility. We performed acoustic pharyngometry in children evaluated for suspected OSA, allowing us to measure the reduction of oropharyngeal volume in supine versus sitting position normalised for the volume in supine position (ΔV%), a measure of pharyngeal collapsibility. In addition to polysomnography and a clinical examination (anatomical parameters), acoustic rhinometry was used to assess nasal obstruction. A total of 188 snoring children were included, 118 (63%) of whom were obese and 74 (39%) of whom had moderate to severe OSA (AHI ≥5/h). The median (25th-75th percentiles) ΔV% in the whole population was 20.1% (4.7; 43.3). ΔV% was independently and positively associated with AHI (p = 0.023), z-score of BMI (p = 0.001), tonsillar hypertrophy (p = 0.007), narrow palate (p = 0.035), and African (p < 0.001) ancestry. By contrast, ΔV% was not modified by dental or skeletal malocclusion, Friedman palate position class or nasopharyngeal obstruction. Tonsillar hypertrophy, obesity, narrow palate and African ancestry are independently associated with an increase in pharyngeal collapsibility in snoring children, thus increasing the risk of OSA. Increased pharyngeal compliance in African children may explain the increased risk of residual OSA after adenotonsillectomy observed in this population.

Prevalence of mouth breathing, with or without nasal obstruction, in children with moderate to severe obstructive sleep apnea.

BACKGROUND: Mouth breathing (MB) is a symptom of obstructive sleep apnea (OSA) in children, but its diagnosis remains challenging. The main objectives of our study were to evaluate whether parents' and physician's diagnose of MB were concordant and to evaluate the prevalence of nasal obstruction in children with OSA and MB. METHODS: Ninety-three children (median age: 10.6 years, range 3-18) with moderate to severe OSA prospectively underwent otorhinolaryngologist (endoscopy, acoustic rhinometry and pharyngometry allowing calculation of pharyngeal compliance) and orthodontist (clinical exam and cephalometry) assessments together with parental interview (daytime MB: never, sometimes, often, always). MB was also assessed by the otorhinolaryngologist (nasal obstruction on endoscopy) and the orthodontist (incompetent lips or anterior open bite or low tongue position). RESULTS: Thirty-eight children (41%) were mouth (parental criterion: MB often or always, median age 8.2 years) and 55 nasal (11.4 years, p = 0.016) breathers. The agreement of parental and physician diagnosis of MB was slight (orthodontist) to moderate (otorhinolaryngologist). Parental diagnosis of MB was associated with nasal obstruction on acoustic rhinometry and endoscopy (hypertrophy of inferior turbinate, n = 18 or adenoids, n = 15) and with an adenoid facies (increased Frankfort's mandibular plane angle on cephalometry). Eleven children had MB by habit and were characterized by more severe OSA and higher pharyngeal compliance than mouth breathers with nasal obstruction. CONCLUSION: MB diagnosis by parents is acceptable and is mainly related to nasal obstruction. A subset of children had MB by habit associated with worst OSA and increased pharyngeal compliance that could benefit from myofunctional therapy.

Effect of the measurement of the work of breathing on the respiratory outcome of preterms.

RATIONALE: There are no validated criteria for the choice of the optimal type of noninvasive respiratory support (NRS) and most appropriate settings in preterms. METHODS: The work of breathing (WOB) during oxygen (O2) alone, nasal continuous positive pressure (nCPAP) and high flow nasal cannula (HFNC) was compared in preterm babies (23-30 weeks' gestation, "physiological group") needing any type of noninvasive respiratory support ("baseline" NRS) at 4 weeks of life. Babies were thereafter treated with the NRS associated with the greatest reduction in WOB ("optimal NRS"). The respiratory outcome at 36 weeks" gestation of these babies was compared to a "control" group treated with NRS based on standard noninvasive parameters. Preterm babies were prospectively enrolled in 3 centers and randomized into the "physiological" or "control" group. RESULTS: Thirty babies were randomized. WOB with "baseline" NRS was higher than the "optimal" NRS and the consequent NRS chosen by physicians (p = 0.001). WOB was lower during HFNC than during O2 (p = 0.032) but WOB was comparable between nCPAP and HFNC, and between nCPAP and O2. Notably, WOB was near to normal during spontaneous breathing with O2. Respiratory outcome at 36 week' gestation was comparable between the 2 groups. CONCLUSION: The optimization of NRS by means of the measurement of WOB in preterms requiring any type of NRS at 4 weeks of life was able to decrease the WOB but had no effect on the clinical outcome at 36 weeks' gestation.

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

RATIONALE: Adams-Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita (ACC), terminal transverse limb defect (TTLD), congenital cardiac malformation (CCM), and minor features, such as cutaneous, neurological, and hepatic abnormalities (HAs). The aim of the study is to emphasize phenotype-genotype correlations in AOS. METHODS: We studied 29 AOS patients. We recorded retrospectively detailed phenotype data, including clinical examination, biological analyses, and imaging. The molecular analysis was performed through whole exome sequencing (WES). RESULTS: Twenty-nine patients (100%) presented with ACC, the principal inclusion criteria in the study. Seventeen of twenty-one (81%) had cutis marmorata telangiectasia congenita, 16/26 (62%) had TTLD, 14/23 (61%) had CCM, 7/20 (35%) had HAs, and 9/27 (33%) had neurological findings. WES was performed in 25 patients. Fourteen of twenty-five (56%) had alterations in the genes already described in AOS. CCM and HAs are particularly associated with the NOTCH1 genotype. TTLD is present in patients with DOCK6 and EOGT alterations. Neurological findings of variable degree were associated sometimes with DOCK6 and NOTCH1 rarely with EOGT. CONCLUSION: AOS is characterized by a clinical and molecular variability. It appears that degrees of genotype-phenotype correlations exist for patients with identified pathogenic mutations, underlining the need to undertake a systematic but adjusted multidisciplinary assessment.

Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.

Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients.