scholarly journals Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment

2021 ◽  
Vol 10 (10) ◽  
pp. 2156
Author(s):  
Mihaela Oros ◽  
Lucica Baranga ◽  
Vasilica Plaiasu ◽  
Sebastian R. Cozma ◽  
Adriana Neagos ◽  
...  

Background—Children with genetic disorders have multiple anatomical and physiological conditions that predispose them to obstructive sleep apnea syndrome (OSAS). They should have priority access to polysomnography (PSG) before establishing their therapeutic protocol. We analyzed the prevalence and the severity of OSAS in a particular group of children with genetic disorders and strengthened their need for a multidisciplinary diagnosis and adapted management. Methods—The retrospective analysis included children with genetic impairments and sleep disturbances that were referred for polysomnography. We collected respiratory parameters from sleep studies: apnea–hypopnea index (AHI), SatO2 nadir, end-tidal CO2, and transcutaneous CO2. Subsequent management included non-invasive ventilation (NIV) or otorhinolaryngological (ENT) surgery of the upper airway. Results—We identified 108 patients with neuromuscular disorders or multiple congenital anomalies. OSAS was present in 87 patients (80.5%), 3 of whom received CPAP, 32 needed another form of NIV during sleep, and 15 patients were referred for ENT surgery. The post-therapeutic follow-up PSG parameters confirmed the success of the treatment. Conclusions—The upper airway obstruction diagnostics and management for children with complex genetic diseases need a multidisciplinary approach. Early detection and treatment of sleep-disordered breathing in children with genetic disorders is a priority for improving their quality of life.

2019 ◽  
Vol 24 (01) ◽  
pp. e107-e111 ◽  
Author(s):  
José Antonio Pinto ◽  
Luciana Balester Mello de Godoy ◽  
Heloisa dos Santos Sobreira Nunes ◽  
Kelly Elia Abdo ◽  
Gabriella Spinola Jahic ◽  
...  

Abstract Introduction Obstructive sleep apnea syndrome (OSAS) is a multifactorial disease characterized by episodes of partial or complete collapse during sleep of different regions of the upper airway. Surgery for OSAS evolved with the introduction of different techniques, considering new surgical concept of reconstruction of the upper airway. Objective To retrospectively evaluate the effectiveness of a new approach aimed at reducing pharyngeal collapse by combining two surgical techniques: lateral and expansion pharyngoplasty. Methods We reviewed the medical records of 38 patients with OSAS undergoing lateral/expansion pharyngoplasty from January 2012 to December 2016. The following data were collected: patient age, gender, and pre- and postoperative body mass index (BMI), Epworth sleepiness scale (ESS) scores, snoring visual analogue scale (VAS) scores, and polysomnography (PSG) results. Results The PSG results showed a significant reduction in the apnea/hypopnea index (AHI) from 22.4 ± 27.3 events/h preoperatively to 13.6 ± 17.9 events/h postoperatively (p = 0.009), with postoperative AHI reduction greater than 50% in 63.2% of the patients. There was also a significant reduction in the microarousal index (19.5 ± 22.6 vs 11.0 ± 13.4 events/h; p = 0.001) and in the minimum oxygen saturation (82.6 ± 10.3 vs 86.9 ± 11.1; p = 0.007). Conclusions Lateral-expansion pharyngoplasty represents a new surgical strategy for the treatment of OSAS in patients with palatal collapse by combining two different techniques: lateral and expansion pharyngoplasty. The two techniques, performed as a one-stage procedure, led to improvements in excessive daytime sleepiness, snoring, and PSG respiratory parameters by acting on lateral and retropalatal collapse, producing favorable results with good applicability in otolaryngology clinical practice.


2016 ◽  
Vol 65 (1) ◽  
Author(s):  
A. De Felice ◽  
S. Fuschillo ◽  
M. Martucci ◽  
E. De Angelis ◽  
G. Balzano

A number of predisposing factors (obesity, nasal obstruction, adenoidal hypertrophy, macroglossia, etc) have been related to obstructive sleep apnea syndrome (OSAS). In addition hypothyroidism and large goitres have been reported to be associated to OSAS, but this association has not been adequately studied. We describe an obese patient with euthyroid goitre associated with OSAS. The patient showed a body mass index (BMI) of 47 and a large neck with a circumference of 60 cm. The flow-volume curve demonstrated an expiratory plateau suggesting an intrathoracic upper airway obstruction. Arterial blood gas analysis results were: pH 7.39; PCO2 54.2 mmHg; P O2 47 mmHg. Nocturnal polisomnography showed an apnea/hypopnea index (AHI) of 31 episodes/hour. Upper airway collapse was overcome by a nasal continuous positive airway pressure (nCPAP) of 14 cmH2O. Weight loss obtained by a hypocaloric diet was not accompanied by any OSAS improvement. After thyroidectomy, a nCPAP of 4 cmH2O was sufficient to prevent upper airway closure. Discontinuation of nCPAP treatment for 4 consecutive nights did not determine worsening of sleep apnea symptoms, nor a worsening of overnight oxymetry. A new polysomnography carried out after 4 nights off nCPAP showed an AHI of 33 episodes/hour. OSAS should be suspected in patients with large goitres. Decisions regarding discontinuation of nCPAP treatment after thyroidectomy should be based on polisomnographic results.


2016 ◽  
Vol 42 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Fábio José Fabrício de Barros Souza ◽  
Anne Rosso Evangelista ◽  
Juliana Veiga Silva ◽  
Grégory Vinícius Périco ◽  
Kristian Madeira

Objective : Obstructive sleep apnea syndrome (OSAS) has a high prevalence and carries significant cardiovascular risks. It is important to study new therapeutic approaches to this disease. Positional therapy might be beneficial in reducing the apnea-hypopnea index (AHI). Imaging methods have been employed in order to facilitate the evaluation of the airways of OSAS patients and can be used in order to determine the effectiveness of certain treatments. This study was aimed at determining the influence that upper airway volume, as measured by cervical CT, has in patients diagnosed with OSAS. Methods : This was a quantitative, observational, cross-sectional study. We evaluated 10 patients who had been diagnosed with OSAS by polysomnography and on the basis of the clinical evaluation. All of the patients underwent conventional cervical CT in the supine position. Scans were obtained with the head of the patient in two positions (neutral and at a 44° upward inclination), and the upper airway volume was compared between the two. Results : The mean age, BMI, and neck circumference were 48.9 ± 14.4 years, 30.5 ± 3.5 kg/m2, and 40.3 ± 3.4 cm, respectively. The mean AHI was 13.7 ± 10.6 events/h (range, 6.0-41.6 events/h). The OSAS was classified as mild, moderate, and severe in 70%, 20%, and 10% of the patients, respectively. The mean upper airway volume was 7.9 cm3 greater when the head was at a 44° upward inclination than when it was in the neutral position, and that difference (17.5 ± 11.0%) was statistically significant (p = 0.002). Conclusions : Elevating the head appears to result in a significant increase in the caliber of the upper airways in OSAS patients.


Author(s):  
Nosetti Luana ◽  
Zaffanello Marco ◽  
De Bernardi Francesca ◽  
Piacentini Giorgio ◽  
Roberto Giulia ◽  
...  

Upper airway abnormalities increase the risk of pediatric morbidity in infants. A multidisciplinary approach to obstructive sleep apnea syndrome (OSAS) poses challenges to clinical practice. The incidence and causes of OSA are poorly studied in children under 2 years of age. To fill this gap, we performed this retrospective observational study to determine the causes of obstructive sleep apnea (OSA) in children admitted to our hospital between January 2016 and February 2018, after a brief unexplained event (BRUE) or for OSA. We reviewed the medical charts of 82 patients (39 males; BRUE n = 48; OSAS n = 34) and divided them into two age groups: < 1 year old (1–12 months; n = 59) and >1 year old (>12–24 months; n = 23). Assessment included nap polysomnography, multichannel intraluminal impedance-pH, and nasopharyngoscopy. Sleep disordered breathing was comparable between the two groups. Omega-shaped epiglottis, laryngomalacia, and nasal septum deviation were more frequent in the younger group, and nasal congestion in older group. Tonsillar and adenoidal hypertrophy was more frequent in the older group, while laryngomalacia and gastroesophageal reflux was more frequent in the younger group. Tonsil and adenoid size were associated with grade of apnea-hypopnea index severity in the older group, and laryngomalacia and gastroesophageal reflux in the younger group. The main causes of respiratory sleep disorders differ in children before or after age 1 year. Our findings have potential clinical utility for assessing the pathophysiology of obstructive sleep disordered breathing in patients less than 2 years old.


ORL ◽  
2021 ◽  
pp. 1-8
Author(s):  
Lifeng Li ◽  
Demin Han ◽  
Hongrui Zang ◽  
Nyall R. London

<b><i>Objective:</i></b> The purpose of this study was to evaluate the effects of nasal surgery on airflow characteristics in patients with obstructive sleep apnea (OSA) by comparing the alterations of airflow characteristics within the nasal and palatopharyngeal cavities. <b><i>Methods:</i></b> Thirty patients with OSA and nasal obstruction who underwent nasal surgery were enrolled. A pre- and postoperative 3-dimensional model was constructed, and alterations of airflow characteristics were assessed using the method of computational fluid dynamics. The other subjective and objective clinical indices were also assessed. <b><i>Results:</i></b> By comparison with the preoperative value, all postoperative subjective symptoms statistically improved (<i>p</i> &#x3c; 0.05), while the Apnea-Hypopnea Index (AHI) changed little (<i>p</i> = 0.492); the postoperative airflow velocity and pressure in both nasal and palatopharyngeal cavities, nasal and palatopharyngeal pressure differences, and total upper airway resistance statistically decreased (all <i>p</i> &#x3c; 0.01). A significant difference was derived for correlation between the alteration of simulation metrics with subjective improvements (<i>p</i> &#x3c; 0.05), except with the AHI (<i>p</i> &#x3e; 0.05). <b><i>Conclusion:</i></b> Nasal surgery can decrease the total resistance of the upper airway and increase the nasal airflow volume and subjective sleep quality in patients with OSA and nasal obstruction. The altered airflow characteristics might contribute to the postoperative reduction of pharyngeal collapse in a subset of OSA patients.


Author(s):  
Michał Harańczyk ◽  
Małgorzata Konieczyńska ◽  
Wojciech Płazak

Abstract Purpose Obstructive sleep apnea syndrome (OSAS) is an independent risk factor for cardiovascular diseases. The aim of the study was to assess the influence of OSAS on endothelial dysfunction and thrombosis biomarkers and to evaluate the effect of treatment with continuous positive airway pressure (CPAP) on biomarker levels. Methods NT-proBNP, sICAM-1, endothelin-1, von Willebrand factor, D-dimers, and thrombin-antithrombin complex (TAT) were measured in 50 patients diagnosed with moderate-to-severe OSAS. All patients underwent transthoracic echocardiography, and 38 months after the inclusion, 16 CPAP users and 22 non-CPAP users were reassessed. Results Sleep-related indices of apnea-hypopnea index (AHI) and mean SpO2 were associated with higher sICAM-1 levels (AHI < 30: 7.3 ± 4.7 vs. AHI ≥ 30: 19.5 ± 19.4 mg/ml, p = 0.04; SpO2 ≥ 90%: 11.9 ± 9.3 vs. SpO2 < 90%: 23.6 ± 25.8, p = 0.04). sICAM-1 levels were significantly higher in obese patients, particularly with BMI ≥ 40. Plasma levels of TAT were significantly correlated with the increased right ventricular size (right ventricular diameter ≤ 37 mm: 0.86 ± 0.70 vs. > 37 mm: 1.96 ± 1.20 ng/ml, p = 0.04). Endothelin-1 levels were higher in patients with decreased right ventricular function (right ventricle TDI-derived S′ ≥ 12 cm/s: 11.5 ± 10.9 vs. < 12 cm/s: 26.0 ± 13.2 pg/ml, p = 0.04). An increase in NT-proBNP was related to impaired parameters of the right ventricular contractile function. There were no correlations between long-term CPAP therapy and the levels of biomarkers. Conclusion Severe OSAS influences endothelial damage as manifested by an increase in sICAM-1 levels. Changes in right ventricular structure and function, observed mainly in patients with higher TAT and endothelin-1 levels, are also manifested by an increase in NT-proBNP levels. Long-term CPAP treatment does not seem to influence biomarkers in patients with moderate-to-severe OSAS, which may help to explain the lack of influence of CPAP on cardiovascular risk reduction.


Author(s):  
Antonio Jurado-García ◽  
Guillermo Molina-Recio ◽  
Nuria Feu-Collado ◽  
Ana Palomares-Muriana ◽  
Adela María Gómez-González ◽  
...  

Background: Obstructive sleep apnea syndrome (OSAS) is a common disease. The objective of this research was to determine the effectiveness of a graduated walking program in reducing the apnea–hypopnea index number in patients with obstructive sleep apnea syndrome (OSAS). Methods: A randomized controlled clinical trial with a two-arm parallel in three tertiary hospitals was carried out with seventy sedentary patients with moderate to severe OSAS. Twenty-nine subjects in each arm were analyzed by protocol. The control group received usual care, while usual care and an exercise program based on progressive walks without direct supervision for 6 months were offered to the intervention group. Results: The apnea–hypopnea index decreased by six points in the intervention group, and improvements in oxygen desaturation index, total cholesterol, and Low-Density Lipoprotein of Cholesterol (LDL-c) were observed. A higher decrease in sleep apnea–hypopnea index (45 ± 20.6 vs. 34 ± 26.3/h; p = 0.002) was found in patients with severe vs. moderate OSAS, as well as in oxygen desaturation index from baseline values (43.3 vs. 34.3/h; p = 0.046). Besides, High-Density Lipoprotein of Cholesterol (HDL-c) values showed a higher increase in the intervention group (45.3 vs. 49.5 mg/dL; p = 0.009) and also, a higher decrease in LDL-c was found in this group (141.2 vs. 127.5 mg/dL; p = 0.038). Conclusion: A home physical exercise program is a useful and viable therapeutic measure for the management of OSAS.


Author(s):  
Goutham Mylavarapu ◽  
Ephraim Gutmark ◽  
Sally Shott ◽  
Robert J. Fleck ◽  
Mohamed Mahmoud ◽  
...  

Surgical treatment of obstructive sleep apnea (OSA) in children requires knowledge of upper airway dynamics, including the closing pressure (Pcrit), a measure of airway collapsibility. We applied a Flow-Structure Interaction (FSI) computational model to estimate Pcrit in patient-specific upper airway models obtained from magnetic resonance imaging (MRI) scans. We sought to examine the agreement between measured and estimated Pcrit from FSI models in children with Down syndrome. We hypothesized that the estimated Pcrit would accurately reflect measured Pcrit during sleep and therefore reflect the severity of OSA as measured by the obstructive apnea hypopnea index (AHI). All participants (n=41) underwent polysomnography and sedated sleep MRI scans. We used Bland Altman Plots to examine the agreement between measured and estimated Pcrit. We determined associations between estimated Pcrit and OSA severity, as measured by AHI, using regression models. The agreement between passive and estimated Pcrit showed a fixed bias of -1.31 (CI=-2.78, 0.15) and a non-significant proportional bias. A weaker agreement with active Pcrit was observed. A model including AHI, gender, an interaction term for AHI and gender and neck circumference explained the largest variation (R2 = 0.61) in the relationship between AHI and estimated Pcrit. (P <0.0001). Overlap between the areas of the airway with lowest stiffness, and areas of collapse on dynamic MRI, was 77.4%±30% for the nasopharyngeal region and 78.6%±33% for the retroglossal region. The agreement between measured and estimated Pcrit and the significant association with AHI supports the validity of Pcrit estimates from the FSI model.


2018 ◽  
Vol 2 (47) ◽  
pp. 10-15
Author(s):  
Danuta Łoboda ◽  
Karolina Simionescu ◽  
Anna Szajerska-Kurasiewicz ◽  
Dorota Lasyk ◽  
Grzegorz Jarosiński ◽  
...  

Cardiac arrhythmias during sleep are reported in almost half of the population suffering from obstructive sleep apnea (OSA). The most common are bradyarrhythmias and atrial fibrillation whereas premature ventricular contractions and nonsustained ventricular tachycardia are less frequent. The risk of arrhythmia is proportional to the body mass index (BMI), number of respiratory events per hour of sleep described with apnea/hypopnea index (AHI) and the level of oxygen desaturation during these episodes. Continuous positive airway pressure (CPAP) treatment in OSA reduces the incidence of cardiac arrhythmias therefore reduce mortality and morbidity from cardiovascular disease.


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