Family aggregation of upper airway soft tissue structures in normal subjects and patients with sleep apnea.
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ABSTRACT: Rationale
Sleep apnea is believed to be a genetic disorder. Thus, we hypothesized that anatomic risk factors for sleep apnea would demonstrate family aggregation.Objectives
We used volumetric magnetic resonance imaging in a sib pair "quad" design to study the family aggregation of the size of upper airway soft tissue structures that are associated with increased risk for obstructive sleep apnea.Methods
We examined 55 sleep apnea probands (apnea-hypopnea index [AHI]: 43.2 +/- 26.3 events/h), 55 proband siblings (AHI: 11.8 +/- 16.6 events/h), 55 control subjects (AHI: 2.1 +/- 1.7 events/h), and 55 control siblings (AHI: 4.2 +/- 4.0 events/h). The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for visceral neck fat and craniofacial dimensions.Measurements and main results
The data support our a priori hypothesis that the volume of the important upper airway soft tissue structures is heritable. The volume of the lateral pharyngeal walls (h(2) = 36.8%; p = 0.001), tongue (h(2) = 36.5%; p = 0.0001), and total soft tissue (h(2) = 37.5%; p = 0.0001) demonstrated significant levels of heritability after adjusting for sex, ethnicity, age, visceral neck fat, and craniofacial dimensions. In addition, our data indicate that heritability of the upper airway soft tissue structures is found in normal subjects and patients with apnea. Thus, it is not simply a consequence of the prevalence of apnea.Conclusions
This is the first time family aggregation of size of the upper airway soft tissue structures has been demonstrated.
SUBMITTER: Schwab RJ
PROVIDER: S-EPMC2662941 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Importance:Adenotonsillar hypertrophy is an important cause of obstructive sleep apnea (OSA) in children. However, residual OSA and abnormal polysomnographic findings have been reported in up to 75% of cases after adenotonsillectomy. Other anatomical and functional factors that influence upper airway structures, including the lateral pharyngeal wall, have rarely been studied in children with OSA. Objective:To determine whether the upper airway structures can be evaluated using head and neck ultrasonography and if there is an association between the ultrasonographic measurements for these structures and severity of OSA seen on polysomnography in children. Design, Setting, and Participants:Prospective, single-center, observational study of 82 children younger than 18 years with a diagnosis of sleep-disordered breathing (20 with primary snoring, 62 with OSA, as determined by the apnea-hypopnea index) and admitted to a tertiary teaching hospital for adenotonsillectomy. Exposures:Ultrasonography and polysomnography. Main Outcomes and Measures:Ultrasonographic measurements of upper airway structures. Results:Of the 82 children studied, 62 (76%) were boys; mean (SD) age, 7.7 (6.2). There was no significant difference found in tonsillar dimensions or volume between the children with OSA and those with primary snoring. However, the mean (SD) total lateral pharyngeal wall and the total neck thicknesses at the retropalatal level were both greater in children with OSA than in those with primary snoring at rest (24.9 [4.4] mm vs 21.3 [2.6] mm; difference, 3.61 mm; 95% CI of difference, 1.48-5.74 mm for lateral pharyngeal wall; and 59.9 [14.4] mm vs 49.9 [11.2] mm; difference, 10.9 mm, 95% CI of difference, 3.8-17.9 mm for the total neck). Conclusions and Relevance:Estimated tonsillar volume measured using ultrasonography had no relationship with the apnea-hypopnea index in childhood sleep-disordered breathing. However, the lateral pharyngeal wall was significantly thicker in children with OSA than in those with primary snoring at rest.
| S-EPMC6233834 | biostudies-other
Project description:ObjectivesAccumulating evidence has shown that there is a genetic contribution to obstructive sleep apnea (OSA).The objectives were to use magnetic resonance imaging (MRI) cephalometry to (1) confirm heritability of craniofacial risk factors for OSA previously shown by cephalometrics; and (2) examine the heritability of new craniofacial structures that are measurable with MRI.DesignA sib pair "quad" design examining apneics, apneic siblings, controls, and control siblings. The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for differences in age, sex, ethnicity, height, and weight.SettingAcademic medical center.PatientsWe examined 55 apneic probands (apnea-hypopnea index [AHI]: 46.8 ± 33.5 events/h), 55 proband siblings (AHI: 11.1 ± 15.9 events/h), 55 controls (AHI: 2.2 ± 1.7 events/h), and 55 control siblings (AHI: 4.1 ± 4.0 events/h).InterventionsN/A.Measurements and resultsFive independent domains reflecting different aspects of the craniofacial structure were examined. We confirmed heritability of sella-nasion-subspinale (38%, P = 0.002), saddle angle (55%, P < 0.0001), mandibular length (24%, P = 0.02) and lower facial height (33%, P = 0.006) previously measured by cephalometry. In addition, the current study added new insights by demonstrating significant heritability of mandibular width (30%, P = 0.005), maxillary width (47%, P < 0.0001), distance from the hyoid bone to the retropogonion (36%, P = 0.0018) and size of the oropharyngeal space (31%, P = 0.004). Finally, our data indicate that heritability of the craniofacial structures is similar in normal patients and those with apnea.ConclusionsThe data support our a priori hypothesis that the craniofacial structures that have been associated with obstructive sleep apnea (OSA) are heritable. We have demonstrated heritability for several intermediate craniofacial phenotypes for OSA. Thus, we believe that future studies should be able to identify genes associated with these intermediate craniofacial phenotypes.
| S-EPMC4173925 | biostudies-literature
Project description:Study objectivesTo measure real-time movement of the tongue and lateral upper airway tissues in obstructive sleep apnea (OSA) subjects during wakefulness using tagged magnetic resonance imaging.DesignComparison of the dynamic imaging of three groups of increasing severity OSA and a control group approximately matched for age and body mass index (BMI).SettingNot-for-profit research institute.Participants24 subjects (apnea hypopnea index [AHI] range 2-84 events/h, 6 with AHI < 5 events/h).MethodsThe upper airway was imaged awake in two planes using SPAtial Modulation of Magnetization (SPAMM). Tissue displacements were quantified with harmonic phase analysis.Measurements and resultsAll subjects had dynamic airway opening in the sagittal plane associated with inspiration. In the nasopharynx, the increase in airway cross-sectional area during inspiration correlated with minimal cross-sectional area of the airway (R = 0.900, P < 0.001). AHI correlated negatively with movement of the nasopharyngeal lateral walls (R = - 0.542, P = 0.006). Four movement patterns were observed during inspiration: "en bloc" anterior movement of the whole posterior tongue; movement of only the oropharyngeal posterior tongue; bidirectional movement; or minimal movement. Some subjects showed different inspiratory movement patterns with different breaths. A low AHI (< 5) was associated with en bloc movement (P = 0.002).ConclusionsInspiratory movement of the tongue varied between and within subjects, likely as a result of local and neural factors. However, in severe OSA inspiratory movement was minimal.CitationBrown EC; Cheng S; McKenzie DK; Butler JE; Gandevia SC; Bilston LE. Respiratory movement of upper airway tissue in obstructive sleep apnea. SLEEP 2013;36(7):1069-1076.
| S-EPMC3669065 | biostudies-literature
Project description:RationaleHypoglossal nerve stimulation (HGNS) recruits lingual muscles, reduces pharyngeal collapsibility, and treats sleep apnea.ObjectivesWe hypothesized that graded increases in HGNS relieve pharyngeal obstruction progressively during sleep.MethodsResponses were examined in 30 patients with sleep apnea who were implanted with an HGNS system. Current (milliampere) was increased stepwise during non-REM sleep. Frequency and pulse width were fixed. At each current level, stimulation was applied on alternating breaths, and responses in maximal inspiratory airflow (V(I)max) and inspiratory airflow limitation (IFL) were assessed. Pharyngeal responses to HGNS were characterized by the current levels at which V(I)max first increased and peaked (flow capture and peak flow thresholds), and by the V(I)max increase from flow capture to peak (ΔV(I)max).Measurements and main resultsHGNS produced linear increases in V(I)max from unstimulated levels at flow capture to peak flow thresholds (215 ± 21 to 509 ± 37 ml/s; mean ± SE; P < 0.001) with increasing current from 1.05 ± 0.09 to 1.46 ± 0.11 mA. V(I)max increased in all patients and IFL was abolished in 57% of patients (non-IFL subgroup). In the non-IFL compared with IFL subgroup, the flow response slope was greater (1241 ± 199 vs. 674 ± 166 ml/s/mA; P < 0.05) and the stimulation amplitude at peak flow was lower (1.23 ± 0.10 vs. 1.80 ± 0.20 mA; P < 0.05) without differences in peak flow.ConclusionsHGNS produced marked dose-related increases in airflow without arousing patients from sleep. Increases in airflow were of sufficient magnitude to eliminate IFL in most patients and IFL and non-IFL subgroups achieved normal or near-normal levels of flow, suggesting potential HGNS efficacy across a broad range of sleep apnea severity.
| S-EPMC3297092 | biostudies-literature
Project description: Not available
| S-EPMC7874418 | biostudies-literature
Project description:Study objectivesUpper airway stimulation (UAS) is an alternative treatment for obstructive sleep apnea that must be activated nightly. Although the implanted device offsets the mask- or pressure-related side effects often associated with continuous positive airway pressure therapy, some UAS recipients do not use the therapy consistently. This study qualitatively explored factors associated with UAS usage in obstructive sleep apnea patients.MethodsSemistructured interviews were conducted with 24 obstructive sleep apnea patients who received UAS treatment. Twelve patients were categorized as high users with mean usage of ≥ 4 hours/night and 12 were categorized as low users with < 4 hours/night or nonuse. Interviews explored patients' experiences regarding barriers and facilitators to UAS use and their advice for new UAS recipients. Demographic and clinical data including the Insomnia Severity Index and Generalized Anxiety Disorder Scale were collected.ResultsCompared to high users, low users had higher levels of insomnia (mean Insomnia Severity Index: 3.6 vs 15.2, respectively) and anxiety (mean Generalized Anxiety Disorder Scale: 3.4 vs 6.9). High users reported more positive experiences with UAS treatment, such as improvements in symptoms and convenience of treatment, as facilitators of use. Low users tended to focus on the negative aspects of treatment, particularly stimulation-related discomfort and associated sleep disturbance.ConclusionsInsomnia with or without anxiety contributes to differing patient-reported experiences in high vs low user groups, with increased insomnia symptoms among low users. Improved understanding of the specific barrier and facilitators of UAS adherence may drive better long-term use and more personalized management strategies, including concomitant insomnia treatment.Clinical trials registrationRegistry: ClinicalTrials.gov; Name: Stimulation Therapy for Apnea: Reporting Thoughts (START); URL: https://clinicaltrials.gov/ct2/show/NCT04768543; Identifier: NCT04768543.CitationLuyster FS, Ni Q, Lee K, et al. Factors affecting obstructive sleep apnea patients' use of upper airway stimulation treatment. J Clin Sleep Med. 2022;18(9):2207-2215.
| S-EPMC9435328 | biostudies-literature
Project description:RationaleControversy persists regarding the presence and importance of hypoglossal nerve dysfunction in obstructive sleep apnea (OSA).ObjectivesWe assessed quantitative parameters related to motor unit potential (MUP) morphology derived from electromyographic (EMG) signals in patients with OSA versus control subjects and hypothesized that signs of neurogenic remodeling would be present in the patients with OSA.MethodsParticipants underwent diagnostic sleep studies to obtain apnea-hypopnea indices. Muscle activity was detected with 50-mm concentric needle electrodes. The concentric needle was positioned at more than 10 independent sites per subject, after the local anatomy of the upper airway musculature was examined by ultrasonography. All activity was quantified with subjects awake, during supine eupneic breathing while wearing a nasal mask connected to a pneumotachograph. Genioglossus EMG signals were analyzed offline by automated software (DQEMG), which extracted motor unit potential trains (MUPTs) contributed by individual motor units from the composite EMG signals. Quantitative measurements of MUP templates, including duration, peak-to-peak amplitude, area, area-to-amplitude ratio, and size index, were compared between the untreated patients with OSA and healthy control subjects.Measurements and main resultsA total of 1,655 MUPTs from patients with OSA (n = 17; AHI, 55 ± 6/h) and control subjects (n = 14; AHI, 4 ± 1/h) were extracted from the genioglossus muscle EMG signals. MUP peak-to-peak amplitudes in the patients with OSA were not different compared with the control subjects (397.5 ± 9.0 vs. 382.5 ± 10.0 μV). However, the MUPs of the patients with OSA were longer in duration (11.5 ± 0.1 vs. 10.3 ± 0.1 ms; P < 0.001) and had a larger size index (4.09 ± 0.02 vs. 3.92 ± 0.02; P < 0.001) compared with control subjects.ConclusionsThese results confirm and quantify the extent and existence of structural neural remodeling in OSA.
| S-EPMC3297112 | biostudies-literature
Project description:PURPOSE:To compare sleep quality and sustained attention of patients with Upper Airway Resistance Syndrome (UARS), mild Obstructive Sleep Apnea (OSA) and normal individuals. METHODS:UARS criteria were presence of excessive daytime sleepiness (Epworth Sleepiness Scale-ESS-? 10) and/or fatigue (Modified Fatigue Impact Scale-MFIS-? 38) associated to Apnea/hypopnea index (AHI) ? 5 and Respiratory Disturbance Index (RDI) > 5 events/hour of sleep or more than 30% of total sleep time with flow limitation. Mild OSA was considered if the presence of excessive daytime sleepiness (ESS ? 10) and/or fatigue (MFIS ? 38) associated to AHI ? 5 and ? 15 events/hour. "Control group" criteria were AHI < 5 events/hour and RDI ? 5 events/hour and ESS ? 9, without any sleep, clinical, neurological or psychiatric disorder. 115 individuals (34 UARS and 47 mild OSA patients and 34 individuals in "control group"), adjusted for age, gender, body mass index (BMI) and schooling years, performed sleep questionnaires and sustained attention evaluation. Psychomotor Vigilance Task (PVT) was performed five times (each two hours) from 8 a.m. to 4 p.m. RESULTS:UARS patients had worse sleep quality (Functional Outcomes of Sleep Questionnaire-FOSQ-and Pittsburgh Sleep Quality Index-PSQI: p < 0.05) and more fatigue than mild OSA patients (p = 0.003) and scored significantly higher in both Beck inventories than "control group" (p < 0.02). UARS patients had more lapses early in the morning (in time 1) compared to the results in the afternoon (time 5) than mild OSA (p = 0.02). Mild OSA patients had more lapses in times 2 than in time 5 compared to "control group" (p = 0.04). CONCLUSIONS:UARS patients have a worse sleep quality, more fatigue and a worse early morning sustained attention compared to mild OSA. These last had a worse sustained attention than controls.
| S-EPMC4881892 | biostudies-literature
Project description:Upper airway collapsibility is a key determinant of obstructive sleep apnea (OSA) which can influence the efficacy of certain non-continuous positive airway pressure (CPAP) treatments for OSA. However, there is no simple way to measure this variable clinically. The present study aimed to develop a clinically implementable tool to evaluate the collapsibility of a patient's upper airway. Collapsibility, as characterized by the passive pharyngeal critical closing pressure (Pcrit), was measured in 46 patients with OSA. Associations were investigated between Pcrit and data extracted from patient history and routine polysomnography, including CPAP titration. Therapeutic CPAP level, demonstrated the strongest relationship to Pcrit (r2=0.51, p < .001) of all the variables investigated including apnea-hypopnea index, body mass index, sex, and age. Patients with a mildly collapsible upper airway (Pcrit ≤ -2 cmH2O) had a lower therapeutic CPAP level (6.2 ± 0.6 vs. 10.3 ± 0.4 cmH2O, p < .001) compared to patients with more severe collapsibility (Pcrit > -2 cmH2O). A therapeutic CPAP level ≤8.0 cmH2O was sensitive (89%) and specific (84%) for detecting a mildly collapsible upper airway. When applied to the independent validation data set (n = 74), this threshold maintained high specificity (91%) but reduced sensitivity (75%). Our data demonstrate that a patient's therapeutic CPAP requirement shares a strong predictive relationship with their Pcrit and may be used to accurately differentiate OSA patients with mild airway collapsibility from those with moderate-to-severe collapsibility. Although this relationship needs to be confirmed prospectively, our findings may provide clinicians with better understanding of an individual patient's OSA phenotype, which ultimately could assist in determining which patients are most likely to respond to non-CPAP therapies.
| S-EPMC6410952 | biostudies-literature
Project description:Study objectivesTo describe a dynamic three-dimensional (3D) computed tomography (CT) technique for the upper airway and compare the required radiation dose to that used for common clinical studies of a similar anatomical area, such as for subjects undergoing routine clinical facial CT.MethodsDynamic upper-airway CT was performed on eight subjects with persistent obstructive sleep apnea, four of whom were undergoing magnetic resonance imaging and an additional four subjects who had a contraindication to magnetic resonance imaging. This Health Insurance Portability and Accountability Act-compliant study was approved by our institutional review board, and informed consent was obtained. The control subjects (n = 41) for comparison of radiation dose were obtained from a retrospective review of the clinical picture-archiving computer system to identify 10 age-matched patients per age-based control group undergoing facial CT.ResultsDynamic 3D CT can be performed with an effective radiation dose of less than 0.38 mSv, a dose that is less than or comparable to that used for clinical facial CT. The resulting data- set is a uniquely complete, dynamic 3D volume of the upper airway through a full respiratory cycle that can be processed for clinical and modeling analyses.ConclusionsA dynamic 3D CT technique of the upper airway is described that can be performed with a clinically reasonable radiation dose and sets a benchmark for future use.
| S-EPMC5263074 | biostudies-literature