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Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia., (© 2021 Wiley Periodicals LLC.)

Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal-onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today little is known about polysomnographic features in RTT females; no data are available about males. We report the case of a male of Moroccan origins with a MECP2 pathogenic variant and a history of encephalopathy and severe breathing disturbances in the absence of dysmorphic features. For the first time we describe in detail the polysomnographic characteristics of a MECP2-mutated male and we show the relevance of severe central apneas, which may represent a new clinical clue to suggest the diagnosis. Moreover, we want to highlight the importance to maintain a high index of suspicion for MECP2-related disorders in the presence of severe hypotonia, apneic crises, and respiratory insufficiency in males to permit an earlier diagnosis and the consequent definition of recurrence risk of the family and to avoid other useless and invasive exams., (© 2020 Wiley Periodicals LLC.)

There is limited knowledge on the occurrence of respiratory manifestations and sleep-disordered breathing in particular in children with the MECP2 duplication syndrome. Although sleep-disordered breathing and nocturnal hypoventilation are currently not cited as an important symptom in these children, we present three cases who all had an abnormal breathing during sleep. In view of the consequences associated with sleep apnea and hypoventilation, we advise to perform a polysomnography in children with MECP2 duplication. Different treatment modalities (ENT surgery, CPAP, and non-invasive ventilation) can be applied to successfully treat these conditions., (© 2020 Wiley Periodicals LLC.)

Objectives: The study was designed to compare upright and supine cephalometric measurements in snorers and to evaluate the effects of mandibular position and nasal resistance on pharyngeal dimensions. Anthropometric, rhinomanometric, and cephalometric measurements were used to investigate predictors of apnea-hypopnea index., Study Design: Prospective, cross-sectional., Methods: Forty consecutive habitually snoring men waiting for nasal surgery (mean age, 44 y; mean body mass index, 28 kg/m2) underwent an overnight polysomnographic, anterior rhinomanometric, and cephalometric analysis in upright and supine positions., Results: Nasal resistance correlated positively with minimal pharyngeal airspace at the level of tongue. The opening of jaws after voluntary relaxation of the mandibular position on lying down correlated with decrease in pharyngeal airway measurements at both velopharyngeal and tongue-base levels. In stepwise multiple regression analysis the overall patient model explained 68% of the variation in apnea-hypopnea index with body mass index as the largest predictor. In the nonobese patients, the model explained 86% of variation in apnea-hypopnea index with change in anteroposterior position of the lower jaw in upright and supine measurements and combined nasal resistance after mucosal decongestion as independent determinants. In selected skeletal subtypes the models predicted 83%, 79%, 61%, and 90% of the variation in apnea-hypopnea index., Conclusions: In the nonobese patients nasal resistance and change in mandibular position on lying down were found to be independent contributing factors to the apnea-hypopnea index. Further research on supine cephalometry and relaxed mandibular position may improve prediction of sleep-disordered breathing in snorers.

Objective: To study morphometric and qualitative histopathologic changes of the soft palate and uvula in patients with mild, moderate, and severe obstructive sleep apnea., Study Design: A prospective, nonrandomized controlled study., Methods: The distal soft palate and uvula were excised during uvulopalatopharyngoplasty from 34 male patients with obstructive sleep apnea. Control specimens were retrieved from 7 male cadavers with no related disorders. All specimens underwent routine processing and the mid-sagittal sections were studied. Morphometric analysis of the relative proportions of the tissue constituents was carried out. Also, a qualitative assessment was performed to detect possible pathologic changes., Results: The body mass index of patients was significantly higher from that of control subjects. The area fraction occupied by the tissue constituents of the distal portion of the soft palate and uvula in patients with mild, moderate, and severe obstructive sleep apnea and in control subjects was similar, with small and insignificant differences regarding the contents of glands, muscle, fat, blood vessels, and the epithelium. Only the connective tissue was significantly greater in patients with moderate obstructive sleep apnea than in those with severe obstructive sleep apnea and control subjects. The qualitative assessment of the specimens disclosed normal tissue architecture without evidence of destruction. Vascular engorgement, fibrosis, edema, inflammatory cell infiltration, and dilated glandular ducts were observed in a portion of patients and control subjects., Conclusions: The structure of the distal soft palate and uvula of patients with obstructive sleep apnea undergoes insignificant changes and is independent of the body mass index levels, indicating that the pathologic changes are probably the sequela of airway obstruction rather than its cause.

The aim of the present study was to evaluate whether the outcome of treatment using an intraoral mandibular advancement device in patients with obstructive sleep apnoea is associated with the mandibular morphology. The effects of the device on apnoeas and sleep were evaluated in 32 men with obstructive sleep apnoea in continuous polysomnographic sleep recordings including body position, during one night without the device and one night with it. Mandibular morphology variables were measured on cephalograms. The odds ratio for a supine apnoea-hypopnoea index of below 15 during treatment was 17 for a mandibular plane angle of 38 degrees or below, and 26 for a lower anterior face height of less then 73 mm. The outcome of treatment in the lateral sleep position was unrelated to any mandibular morphology variable. Patients with supine-dependent sleep apnoea defined by a supine apnoea-hypopnoea index of 10 or above and a lateral apnoea-hypopnoea index of below 10 had an odds ratio of 7 to have an orthognathic mandible with an SNB angle of 78 degrees or above. The present study suggests that a successful apnoea reduction using a mandibular advancement device is associated with a normal mandibular plane angle and a small lower anterior face height.

Uvulopalatopharyngoplasty (UPPP) is reported successful in treatment of obstructive sleep apnea for approximately 50% of patients. Several modifications of the procedure have been described, including transpalatal advancement pharyngoplasty, which resects a portion of posterior hard palate and advances the soft palate anteriorly. Comparing effectiveness of different techniques based on sleep and respiratory data is confounded by multiple variables including clinical failure at nonsurgical sites and imprecise patient selection techniques. Since pharyngeal surgical procedures prevent collapse and obstruction by structurally modifying the upper airway, measuring structural changes in size and collapsibility provides a method to compare techniques. To evaluate whether transpalatal advancement pharyngoplasty is more effective in modifying upper airway characteristics than UPPP, upper airway cross-sectional size and collapsibility were measured after UPPP and transpalatal advancement pharyngoplasty. Six patients were evaluated using a quantitative endoscopic technique. After transpalatal advancement pharyngoplasty maximal retropalatal airway size increased 321% from 29.7 +/- 9.9 to 95.3 +/- 16 mm2 (P < 0.01), and retropalatal closing pressure decreased from 4.7 +/- 1.6 to -3.8 +/- 0.7 cm/H2O (P < 0.01) compared with UPPP. Respiratory disturbance index decreased from 74.5 +/- 13.5 to 29.2 +/- 9 events/hour postoperatively (P < 0.05). Results support the conclusion that transpalatal advancement pharyngoplasty increases retropalatal size and decreases retropalatal collapsibility compared with UPPP. Since these characteristics are postulated to contribute to increased stability during sleep, transpalatal advancement pharyngoplasty may potentially improve UPPP outcome in selected patients with small retropalatal airway areas after traditional surgery.

The hypertrophy of the lingual tonsil is a rare occurrence in adults. This disorder may cause obstructive sleep apnea (OSA) and also may lead to a life-threatening obstruction of the upper airway. Diagnosis of lingual tonsil hypertrophy in patients with OSA requires a careful examination by advanced technologic methods. The sleep apnea is successfully treated by lingual tonsillectomy, with or without tracheotomy. In this study the case of an adult with OSA caused by lingual tonsil hypertrophy which was treated with lingual tonsillectomy is presented, and the diagnosis and the treatment procedure of such cases are discussed.

This study was conducted to determine whether inflammation is present in the uvula mucosa of patients with obstructive sleep apnea (OSA). Uvulas were obtained by uvulopalatopharyngoplasty in 21 patients with moderate OSA (mean apnea/hypopnea index and standard error of the mean: 32 +/- 4) and by autopsy in 5 individuals not known to have OSA. Using point counting in five randomly selected high-power microscopic fields (X100), the authors found that the number of leukocytes in the lamina propria of the uvula mucosa was significantly higher in patients with OSA than in the controls (179 +/- 12 cells vs. 71 +/- 4 cells, respectively; P < .05). This was due to a significant increase in the number of plasma cells in patients with OSA as compared with controls (89 +/- 15 cells vs. 21 +/- 5 cells, respectively; P < .05). The thickness of the lamina propria (an index of interstitial edema) was also significantly increased in patients with OSA compared with controls (0.99 +/- 0.12 mm vs. 0.27 +/- 0.02 mm, respectively; P < 0.05). The authors conclude that inflammation, characterized by plasma cell infiltration and interstitial edema, is present in the uvula mucosa of patients with moderate OSA. They also suggest that soft palate inflammation contributes to upper airway occlusion observed during sleep in these patients.

Uvulopalatopharyngoplasty (UPPP) is a commonly performed procedure for obstructive sleep apnea (OSA). However, results are inconsistent. Patients in whom the UPPP procedure has failed have a smaller change in airway size as compared to responders, and also many demonstrate continued obstruction at the palate. We present a modification, transpalatal advancement pharyngoplasty, that increases upper oropharyngeal and retropalatal airway size by advancing the soft palate. Eleven patients with severe OSA and multiple sites of airway narrowing were corrected by this method. Three patients had prior UPPP and 5 patients had concomitant tongue-base procedures. Overall results demonstrate clinical enlargement of the retropalatal space. In the 6 patients who had transpalatal advancement pharyngoplasty alone, 4 (67%) were successful responders as defined by a respiratory disturbance index (RDI) of less than 20 events per hour. RDI decreased from 52.8 +/- 12.2 to 12.3 +/- 2.8 events per hour. For the entire group, RDI decreased from 73.3 +/- 29.4 to 25.1 +/- 28.2 events per hour (P < .001). There were four complications, including a transient oronasal fistula(1), transient dysphagia(2), and serous otitis media(1). Transpalatal advancement pharyngoplasty potentially may offer an alternative to increasingly aggressive resection with UPPP in an effort to increase the upper oropharyngeal and retropalatal airway and may be appropriate in careful selected patients as part of the surgical treatment of OSA.

The pathophysiologic events that lead to the loss of airway compensation in obstructive sleep apnea (OSA) are poorly understood. The development of airway instability may be secondary to changes in neurologic control, airway morphology, or both. To identify potential histopathologic features of pharyngeal tissues that may contribute to OSA, transverse sections of the distal soft palate and uvula were qualitatively compared using light and electron microscopy from 4 severe apneics (greater than 50 apnea/hour), 4 severe snorers (less than 20 apnea/hour), and 4 nonsnorers. Light microscopy of both apneics and snorers revealed mucous gland hypertrophy with ductal dilation and focal squamous metaplasia, disruption of muscle bundles by infiltrating mucous glands, focal atrophy of muscle fibers, and extensive edema of the lamina propria with vascular dilation. Severe snorers did not differ qualitatively from apneics in the characteristic changes found; however, some snorers had less extensive changes. No distinctive histopathologic findings could be associated with the development of apnea. Electron microscopy of severe apneics identified frequent focal degeneration of myelinated nerve fibers and axons. The finding of similar histopathologic changes in apneics and severe snorers supports previous speculation of a common etiology not directly related to apnea, such as vibratory trauma to pharyngeal tissues. Degenerative changes in peripheral nerves, identified on electron microscopy, however, may contribute to airway instability and the development of obstructive apnea by impairing pharyngeal reflexes.

Forty-five habitual snorers (mean respiratory disturbance index = 6) and 22 patients with obstructive sleep apnea syndrome (mean respiratory disturbance index = 36) were examined by polysomnography, radiocephalometry, rhinomanometry, nasopharyngeal videoendoscopy, and acoustic rhinometry. In 97% of these patients, hypertrophy of the inferior nasal turbinates was found by acoustic rhinometry, while increased nasal resistance of various degrees was measured in 93% of all patients by active anterior rhinomanometry. Acoustic rhinometry demonstrated that the most resistive segment was located in the anterior parts of the nasal cavity and was built up by two compartments: the region of the isthmus nasi and the region of the head of the inferior turbinate. In our snoring patients, the cross-sectional areas at the head of the inferior turbinate were always smaller than the cross-sectional areas in the isthmus nasi, which in normal controls presented the minimal cross-sectional values of the whole nasal cavity. While rhino-manometry can only measure the amount of nasal resistance, acoustic rhinometry can clearly determine the exact size and location of the different stenoses in the nasal cavity that contribute to the increased nasal resistance.

In obstructive sleep apnea syndrome, polysomnograms characterize the nature and severity of the disorder but, rarely, its specific site. Therefore, 90 patients with documented obstructive sleep apnea were evaluated by cephalometric technique, with special attention paid to the size and position of the soft palate and uvula, volume and position of the tongue, mandibulo-maxillary relationship, hyoid position, and size of the pharyngeal airway space. Results showed major differences between control patients and patients with obstructive sleep apnea in over 50% (30/52) of the objectively measured indices of the cephalometric airway. Further, many changes in the cephalograms of these patients can be correlated with disease severity.

A new surgical procedure to treat obstructive sleep apnea by uvulopalatopharyngoplasty (UPPP) was evaluated in 66 patients, 63 men and 3 women, with objectively documented sleep apnea syndrome. Removal of redundant tissue in the oropharynx (UPPP) significantly improved excessive daytime sleepiness, reduced by half the frequency of apneas and hypoxia occurring during sleep, and improved the quality of sleep. Closer analysis indicated that all 66 patients did not benefit to the same degree. Among patients classified as responders, the frequency of apnea was reduced to a level seen in healthy adults of the same age, measures of sleep approached normal, and excessive daytime sleepiness was eliminated. In nonresponders, frequency of apnea and consequent disruption of sleep was not reduced, but nocturnal hypoxia was improved.