Screening obstructive sleep apnea–hypopnea syndrome from snorers in children by heart rate variability analysis

This study aimed to evaluate the application of time- and frequency-domain analysis of heart rate variability (HRV) to screen obstructive sleep apnea–hypopnea syndrome (OSAHS) from snorers in children. Snoring children who were more than 3 years old were recruited and simultaneously underwent standard polysomnography (PSG) and 24 h ambulatory electrocardiography. The HRV variables of the two groups were compared, and a threshold value of the most significant variables was determined to obtain better separation power between OSAHS and non-OSAHS conditions. PSG was made as a gold standard to evaluate the capacity of HRV analysis to screen OSAHS from snorers in children. PSG results showed that 58 children manifested OSAHS and 37 were non-OSAHS snorers. LF/HF_n ≥ 0.845 has the highest sensitivity of screening OSAHS from snorers with limited specificity, so the use of this ratio should not be overestimated.     

Heart Rate Variability During Sleep Following the Practice of Cyclic Meditation and Supine Rest

Day time activities are known to influence the sleep on the following night. Cyclic meditation (CM) has recurring cycles. Previously, the low frequency (LF) power and the ratio between low frequency and high frequency (LF/HF ratio) of the heart rate variability (HRV) decreased during and after CM but not after a comparable period of supine rest (SR). In the present study, on thirty male volunteers, CM was practiced twice in the day and after this the HRV was recorded (1) while awake and (2) during 6 h of sleep (based on EEG, EMG and EGG recordings). This was similarly recorded for the night’s sleep following the day time practice of SR. Participants were randomly assigned to the two sessions and all of them practiced both CM and SR on different days. During the night following day time CM practice there were the following changes; a decrease in heart rate, LF power (n.u.), LF/HF ratio, and an increase in the number of pairs of Normal to Normal RR intervals differing by more than 50 ms divided by total number of all NN intervals (pNN50) (P < 0.05, in all cases, comparing sleep following CM compared with sleep following SR). No change was seen on the night following SR. Hence yoga practice during the day appears to shift sympatho-vagal balance in favor of parasympathetic dominance during sleep on the following night.     

Characteristics of the autonomic regulation in humans with different susceptibility to cold

To determine the strained adaptation to cold, the cardiovascular reactivity under local cold exposure and the characteristics of regulation of the circulatory system in persons with high individual susceptibility to cold was studied. It was shown that the subjective characteristics of high susceptibility to cold in the form of initial symptoms of Raynaud’s phenomenon correlated with the symptoms of aggravated and generalized cold-induced vasoconstriction (CIV) during the local cold test. The analysis of the heart rate variability (HRV) in persons with aggravated CIV revealed a decrease in the parameters of the time-domain characteristics of HRV (RRNN, SDNN, RMSSD, pNN₅₀, and coefficient of variation) as well as a decrease in the total power (TP) of the frequency-domain characteristics and the absolute values of the frequency bands (VLF, LF, and HF) with a relative increase of the LF component. This reflects possible changes in the autonomic regulation of the cardiovascular system, which manifest themselves in a reduced contribution of reflectory mechanisms to the heart rate regulation followed by relative predominance of baroreflex regulation. The diagnostic value of aggravated cold-induced vasoconstriction in identifying disorders of adaptation to cold or premorbid state of the cardiovascular system is discussed.     

Assessment of Cardiac Autonomic Modulation during Adolescent Obesity

Objective: To investigate the cardiovascular autonomic function in pediatric obesity of different duration by using standard time domain, spectral heart rate variability (HRV), and nonlinear methods. Research Methods and Procedures: Fifty obese children (13.9 ± 1.7 years) were compared with 12 lean subjects (12.9 ± 1.6 years). Obese children were classified as recent obese (ROB) (<4 years), intermediate obese (IOB) (4 to 7 years), and long‐term obese (OB) (>7 years). In all participants, we performed blood pressure (BP) measurements, laboratory tests, and 24‐hour electrocardiogram/ambulatory BP monitoring. The spectral power was quantified in total power, very low‐frequency (LF) power, high‐frequency (HF) power, and LF to HF ratio. Total, long‐term, and short‐term time domain HRV were calculated. Poincaré plot and quadrant methods were used as nonlinear techniques. Results: All obese groups had higher casual and ambulatory BP and higher glucose, homeostasis model assessment, and triglyceride levels. All parameters reflecting parasympathetic tone (HF band, root mean square successive difference, proportion of successive normal‐to‐normal intervals, and scatterplot width) were significantly and persistently reduced in all obese groups in comparison with lean controls. LF normalized units, LF/HF, and cardiac acceleration (reflecting sympathetic activation) were significantly increased in the ROB group. In IOB and OB groups, LF, but not nonlinear, measures were similar to lean controls, suggesting biphasic behavior of sympathetic tone, whereas nonlinear analysis showed a decreasing trend with the duration of obesity. Long‐term HRV measures were significantly reduced in ROB and IOB. Discussion: Autonomic nervous system changes in adolescent obesity seem to be related to its duration. Nonlinear methods of scatterplot and quadrant analysis permit assessment of autonomic balance, despite measuring different aspects of HRV.     

Arousal and ventilatory responses during sleep in children with obstructive sleep apnea

Abnormal centralregulation of upper airway muscles may contribute to thepathophysiology of the childhood obstructive sleep apnea syndrome(OSAS). We hypothesized that this was secondary to global abnormalitiesof ventilatory control during sleep. We therefore compared the responseto chemical stimuli during sleep between prepubertal children with OSASand controls. Patients with OSAS aroused at a higherPCO₂ (58 ± 2 vs. 60 ± 5 Torr,P < 0.05); those with the highestapnea index had the highest arousal threshold(r = 0.52, P < 0.05). The hypercapnic arousal threshold decreased after treatment. For all subjects, hypoxia was apoor stimulus to arousal, whereas hypercapnia and, particularly, hypoxic hypercapnia were potent stimuli to arousal. Hypercapnia resulted in decreased airway obstruction in OSAS. Ventilatory responseswere similar between patients with OSAS and controls; however, thesample size was small. We conclude that children with OSAS haveslightly blunted arousal responses to hypercapnia. However, the overallventilatory and arousal responses are normal in children with OSAS,indicating that a global deficit in respiratory drive is not a majorfactor in the etiology of childhood OSAS. Nevertheless, subtleabnormalities in ventilatory control may exist.

     

Determinants of heart rate variability in obstructive sleep apnea syndrome during wakefulness and sleep

Heart rate variability (HRV) is mediated by at least three primary mechanisms: 1) vagal feedback from pulmonary stretch receptors (PSR), 2) central medullary coupling between respiratory and cardiovagal neurons (RCC), and 3) arterial baroreflex (ABR)-induced fluctuations. We employed a noninvasive experimental protocol in conjunction with a minimal model to determine how these sources of HRV are altered in obstructive sleep apnea syndrome (OSAS). Respiration, heart rate, and blood pressure were monitored in eight normal subjects and nine untreated OSAS patients in relaxed wakefulness and stage 2 and rapid eye movement sleep. A computer-controlled ventilator delivered inspiratory pressures that varied randomly from breath to breath. Application of the model to the corresponding subject responses allowed the delineation of the three components of HRV. In all states, RCC gain was lower in OSAS patients than in normal subjects (P < 0.04). ABR gain was also reduced in OSAS patients (P < 0.03). RCC and ABR gains increased from wakefulness to sleep (P < 0.04). However, there was no difference in PSR gain between subject groups or across states. The findings of this study suggest that the adverse autonomic effects of OSAS include impairment of baroreflex gain and central respiratory-cardiovascular coupling, but the component of respiratory sinus arrhythmia that is mediated by lung vagal feedback remains intact.     

The Role of the Suprachiasmatic Nucleus in Cardiac Autonomic Control during Sleep

Background

The suprachiasmatic nucleus (SCN) may play an important role in central autonomic control, since its projections connect to (para)sympathetic relay stations in the brainstem and spinal cord. The cardiac autonomic modifications during nighttime may therefore not only result from direct effects of the sleep-related changes in the central autonomic network, but also from endogenous circadian factors as directed by the SCN. To explore the influence of the SCN on autonomic fluctuations during nighttime, we studied heart rate and its variability (HRV) in a clinical model of SCN damage.

Methods

Fifteen patients in follow-up after surgical treatment for nonfunctioning pituitary macroadenoma (NFMA) compressing the optic chiasm (8 females, 26–65 years old) and fifteen age-matched healthy controls (5 females, 30–63 years) underwent overnight ambulatory polysomnography. Eleven patients had hypopituitarism and received adequate replacement therapy. HRV was calculated for each 30-second epoch and corrected for sleep stage, arousals, and gender using mixed effect regression models.

Results

Compared to controls, patients spent more time awake after sleep onset and in NREM1-sleep, and less in REM-sleep. Heart rate, low (LF) and high frequency (HF) power components and the LF/HF ratio across sleep stages were not significantly different between groups.

Conclusions

These findings suggest that the SCN does not play a dominant role in cardiac autonomic control during sleep.     

Electrophysiological and neuropsychological outcomes of severe obstructive sleep apnea: effects of hypoxemia on cognitive performance

Obstructive sleep apnea syndrome (OSAS) is a sleep disorder characterized with upper airway obstructions. Some studies showed cognitive and electrophysiological changes in patients with OSAS; however, contradictory results were also reported. The purpose of the present study was twofold: (1) to investigate cognitive changes in severe OSAS patients by using neuropsychological tests and electrophysiological methods together, (2) to investigate influence of hypoxemia levels on cognition. Fifty-four severe OSAS patients and 34 age-, gender- and education matched healthy subjects were participated. OSAS patients were further divided into two subgroups according to minimum oxygen saturation levels. All participants underwent a detailed neuropsychological test battery. A classical visual oddball task was used to elicit ERP P300 and mean P300 amplitudes were measured from F_z, C_z and P_z electrode sites. OSAS patients showed reduced mean P300 amplitudes up to 43–51% on all electrode sites compared to healthy controls. Subgroup analysis revealed significant differences in neuropsychological test scores between healthy controls and high hypoxemia OSAS group, as well as between low and high hypoxemia groups. Moreover, both low and high hypoxemia OSAS groups had lower P300 amplitudes compared with healthy controls. P300 amplitudes showed a gradual decline in parallel with increasing hypoxemia severity; however, the difference between high and low hypoxemia OSAS groups did not reach significance. Moderate correlations were found between sleep parameters, neuropsychological test scores and P300 amplitudes. These results suggest that electrophysiological measures could be better indicators of cognitive changes than neuropsychological tests in OSAS, particularly in mildly affected patients.     

Heart Rate Variability During 24 Hours in Asthmatic Children

The autonomic circadian rhythm plays an important role in asthma. In recent years it has become possible to evaluate autonomic nervous function (ANF) using analysis of heart rate variability (HRV). We analyzed the HRV in the 24h period following the state without an asthma attack in order to study the relationship between asthma and ANF. The HRV was analyzed in 94 asthmatic children (ages 5–15 years). These subjects were divided into groups according to the severity of their asthma. After recording a 24h ambulatory electrocardiograph (AECG), the HRV was analyzed by a computer. Evaluation of the HRV was carried out using time-domain and frequency-domain analyses. The ANF of asthma subjects was decreased in comparison to the normal group. The severity of asthma had a significant effect on the %RR50 (the proportion of cycles during which the difference is > 50 ms), the SD (standard deviation; mean of standard deviation of all normal RR intervals for all 5-minute periods), the low-frequency (LF) band (0.04 to 0.15 Hz), and the high-frequency (HF) band (0.15 to 0.4 Hz) (%RR50: F = 4.31, p = 0.01; SD: F=3.48, p = 0.03; LF: F=3.67, p = 0.02; HF: F=3.41, p = 0.03). These values were lowest in the severe asthma group. With regard to the therapy grouping, the index that exhibited a significant difference was the NNA (mean of normal-to-normal RR intervals over 24h) (F = 4.43, p = 0.01) In conclusion, even in the normal condition in which the patient is free of an asthma attack, the ANF of asthma sufferers differs from that of normal children. It is possible that the different ANF of asthma sufferers is related to the severity of the asthma. (Chronobiology International, 14(6), 597–606, 1997)     

Early detection of upper airway obstructions by analysis of acoustical respiratory input impedance

Repetitive occurrence of partial or total upper airway obstruction characterizes several respiratory dysfunctions such as the obstructive sleep apnea syndrome (OSAS). In OSAS patients, pharyngeal collapses are linked to a decrease in upper airway muscle activity during sleep which causes decreased upper airway wall stiffness. Continuous positive airway pressure (CPAP) is recommended as the treatment of choice. Advancements in CPAP therapy require early detection of respiratory events in real time to adapt the level of the applied pressure to airway collapsibility. The forced oscillation technique (FOT) is a noninvasive method which reflects patients' airway patency by measuring respiratory impedance. The aim of this study was to evaluate by a mathematical model of the respiratory system if FOT can provide an early detection index of total or partial upper airway obstruction. Furthermore, the simulation should suggest which characteristic features are relevant for early apnea detection in measured clinical data. The respiratory system has been treated as a series of cylindrical segments. The oropharynx analog of the model allows simulation of upper airway collapse, mimicking the situation in patients with OSAS. We calculated the input impedance for different degrees of upper airway obstruction ranging from unobstructed airways to total occlusion. Furthermore, we simulated different upper airway wall compliances. We compared the simulation with real data. The results of the study suggest that FOT is a valuable tool for assessing the degree of upper airway obstruction in patients with OSAS. Especially, the phase angle of the impedance seems to be a potentially useful tool for early apnea detection by assessing the upper airway wall collapsibility. Received: 23 July 1998 / Accepted in revised form: 26 January 1999     

Heart rate variability and body temperature during the sleep onset period

Heart rate variability (HRV) and body temperature during the sleep onset period was examined. The core body temperature and electrocardiogram were recorded continuously beginning 1 h before lights out (LO) until the end of the first rapid eye movement sleep (REM) in 14 young healthy subjects. HRV was calculated by the MemCalc method. The time course changes in body temperature and HRV was analyzed before and after sleep onset, and during the following eight consecutive phases: the 60 min before LO, the 30 min before LO, LO, first stage 2 (sleep onset), first slow wave sleep (SWS), stage 2 just before REM, start of REM, and end of REM. A clear decline was observed in the ratio of the low frequency (LF) to high frequency (HF) component of HRV (LF/HF), normalized LF (LF/(LF + HF)), and body temperature prior to sleep onset both in the time course of the sleep onset period and in the consecutive phases. The HF increased prior to sleep onset in the consecutive phases, while no clear increase was observed in the time course of sleep onset period. Changes in LF/(LF + HF) and LF/HF preceded SWS and REM. These results suggest the existence of a strong coupling between the cardiac autonomic nervous system and body temperature at the sleep onset period that may not be circadian effects. Furthermore, LF/(LF + HF) and LF/HF may possibly anticipate sleep and the onset of each sleep stage.

     

悬雍垂腭咽成形术治疗阻塞性睡眠呼吸 暂停综合征46 例疗效分析

目的：通过对睡眠呼吸暂停综合征病人（obstructlve sleep apnea syndrome,OSAS）睡眠呼吸参数的比较,探讨UPPP治疗OSAS的效果。方法：经多导睡眠图（Polysomnography,PSG）确诊为OSAS的病人46例,选择呼吸紊乱指数（apnea and hypopnea index,AHI）、呼吸暂停指数（apnea index,AI）及睡眠中的最低SaO2值作为评价OSAS轻重程度的指标。计算轻中度组、重度组在手术前后的AHI缓解率、最低SaO2缓解率厦显效率,并作为衡量UPPP手术治疗效果的指标。分析患者在手术前后AHI、最低SaO2的相关性;分析轻中度组和重度组的缓解率、最低SaO2缓解率及治愈率的相关性。结果：1利用UPPP手术治疗OSAS,患者手术前后AHI、最低SaO2具有相关性。2在分组资料中,轻中度组和重度组的缓解率、最低SaO2缓解率及显效率都具有显著相关性。结论：（1）UPPP是治疗OSAS的有效方法;（2）轻中度组的治疗效果要好于重度组。     

Circadian and ultradian rhythms in heart rate variability.

AIM: Heart rate variability (HRV) patterns reflect the changing effect of sympathetic and parasympathetic modulation of the autonomic nervous system. While overall and circadian heart rate (HR) and HRV are well characterized by traditional measures, there is currently no method to measure ultradian cycles of HR and HRV. MATERIALS AND METHODS: HR/HRV for each 2-min interval was calculated using normal-to-normal interbeat intervals from overnight polysomnographic ECGs in 113 subjects, aged 58+/-10 years (65 male, 48 female). HR, SDNN2, high-frequency power (HF) and the LF (low-frequency power)/HF ratio were plotted. A curve-fitting algorithm, developed in MatLab, identified cyclic patterns of HR/HRV and extracted parameters to characterize them. Results were compared for older vs. younger patients, males vs. females, with vs. without severe sleep apnea, and for the upper and lower half of sleep efficiency. RESULTS: Ultradian patterns for different HR/HRV indices had variable correspondences with each other and none could be considered surrogates. Differences were seen for all comparison groups, but no one marker was consistently different across comparisons. CONCLUSION: Each HR/HRV parameter has its own rhythm, and the correspondence between these rhythms varies greatly across subjects. Quantification of ultradian patterns of HRV is feasible and could provide new insights into autonomic physiology.     

The link between cardiac autonomic activity and sleep delta power is altered in men with sleep apnea-hypopnea syndrome

We hypothesize that sleep apnea-hypopnea alters interaction between cardiac vagal modulation and sleep delta EEG. Sleep apnea-hypopnea syndrome (SAHS) is related to cardiovascular complications in men. SAHS patients show higher sympathetic activity than normal subjects. In healthy men, non-rapid eye movement (NREM) sleep is associated with cardiac vagal influence, whereas rapid eye movement (REM) sleep is linked to cardiac sympathetic activity. Interaction between cardiac autonomic modulation and delta sleep EEG is not altered across a life span nor is the delay between appearances of modifications in both signals. Healthy controls, moderate SAHS, and severe SAHS patients were compared across the first three NREM-REM cycles. Spectral analysis was applied to ECG and EEG signals. High frequency (HF) and low frequency (LF) of heart rate variability (HRV), ratio of LF/HF, and normalized (nu) delta power were obtained. A coherency analysis between HF(nu) and delta was performed, as well as a correlation analysis between obstructive apnea index (AI) or hypopnea index (HI) and gain, coherence, or phase shift. HRV components were similar between groups. In each group, HF(nu) was larger during NREM, while LF(nu) predominated across REM and wake stages. Coherence and gain between HF(nu) and delta decreased from controls to severe SAHS patients. In SAHS patients, the delay between modifications in HF(nu) and delta did not differ from zero. AI and HI correlated negatively with coherence, while HI correlated negatively with gain only. Apneas-hypopneas affect the link between cardiac sympathetic and vagal modulation and delta EEG demonstrated by the loss of cardiac autonomic activity fluctuations across shifts in sleep stages. Obstructive apneas and hypopneas alter the interaction between both signals differently.     

Modifying Effect of a Common Polymorphism in the Interleukin-6 Promoter on the Relationship between Long-Term Exposure to Traffic-Related Particulate Matter and Heart Rate Variability

Background

Exposure to particulate matter (PM) has been associated with an increase in many inflammatory markers, including interleukin 6 (IL6). Air pollution exposure has also been suggested to induce an imbalance in the autonomic nervous system (ANS), such as a decrease in heart rate variability (HRV). In this study we aimed to investigate the modifying effect of polymorphisms in a major proinflammatory marker gene, interleukin 6 (IL6), on the relationship between long-term exposure to traffic-related PM₁₀ (TPM₁₀) and HRV.

Methods

For this cross-sectional study we analysed 1552 participants of the SAPALDIA cohort aged 50 years and older. Included were persons with valid genotype data, who underwent ambulatory 24-hr electrocardiogram monitoring, and reported on medical history and lifestyle. Main effects of annual average TPM₁₀ and IL6 gene variants (rs1800795; rs2069827; rs2069840; rs10242595) on HRV indices and their interaction with average annual exposure to TPM₁₀ were tested, applying a multivariable mixed linear model.

Results

No overall association of TPM₁₀ on HRV was found. Carriers of two proinflammatory G-alleles of the functional IL6 -174 G/C (rs1800795) polymorphism exhibited lower HRV. An inverse association between a 1 µg/m³ increment in yearly averaged TPM₁₀ and HRV was restricted to GG genotypes at this locus with a standard deviation of normal-to-normal intervals (SDNN) (GG-carriers: −1.8%; 95% confidence interval −3.5 to 0.01; p_{interaction(additive)} = 0.028); and low frequency power (LF) (GG-carriers: −5.7%; 95%CI: −10.4 to −0.8; p_{interaction(dominant)} = 0.049).

Conclusions

Our results are consistent with the hypothesis that traffic-related air pollution decreases heart rate variability through inflammatory mechanisms.     

VLCD-induced weight loss improves heart rate variability in moderately obese Japanese

To evaluate the effects of weight reduction on the autonomic nervous system in obese patients, we investigated heart rate variability (HRV) based on 24-hr ambulatory electrocardiogram (ECG) recordings before and after weight reduction. To aim for weight reduction, 16 obese patients were treated with the very-low-calorie conventional Japanese diet (VLCD-CJ) therapy combined with behavior therapy. Percent weight reduction was 17.8% +/- 1.5% (means +/- SEM), but mean blood pressure did not change significantly after VLCD-CJ therapy. The mean normal R-R interval (mNN) of the 24-hr ECG and all other five time-domain indices increased after weight reduction. Spectral analysis revealed that weight reduction increased the high frequency (HF) component, but decreased the ratio of low to high (LF/HF) components. Rate of change in mNN or HF correlated positively with reduction rate of body mass index, but not that in LF/HF. Analysis of daily fluctuations in each HRV parameter showed that significant improvement after weight loss occurred mainly during the nocturnal period, but an HF component was improved throughout the day and night periods. These findings indicate that functional impairment of the autonomic nervous system in obese subjects, particularly in the nocturnal period, is improved by effective weight reduction after VLCD-CJ therapy.     

Alteration of cardiovascular autonomic functions by vegetarian diets in postmenopausal women is related to LDL cholesterol levels

This study was designed to test the hypothesis that alteration of cardiovascular autonomic functions by vegetarian diets in healthy postmenopausal women is related to lipid metabolism. A total of 70 healthy postmenopausal women not on hormone therapy participated in this study: 35 were vegetarians (mean age 55.0 years) and 35 were omnivores (mean age 55.1 years). Cardiovascular autonomic functions and baroreflex sensitivity were evaluated by specific frequency-domain measures of heart rate variability (HRV) and arterial blood pressure fluctuation. The vegetarians had statistically significant lowered blood pressure, total cholesterol, low-density lipoprotein (LDL) cholesterol, triglyceride, and fasting glucose levels compared with the omnivores. The vegetarians exhibited a significant higher total power, low-frequency (LF; 0.04-0.15 Hz) and high-frequency (HF; 0.15-0.4 Hz) of HRV and increased baroreflex sensitivity measures [Brr(LF) and Brr(HF)] compared with the omnivores. Total power, LF and HF of HRV, Brr(LF), and Brr(HF) were significantly and negatively correlated with LDL-cholesterol concentrations (P < 0.01). We concluded that the increases of cardiac vagal activity and baroreflex sensitivity by vegetarian diets in postmenopausal women are inversely related to LDL-cholesterol levels.     

Association Between Uric Acid Levels and Obstructive Sleep Apnea Syndrome in a Large Epidemiological Sample

Introduction

Recurrent hypoxia, which is associated with obstructive sleep apnea syndrome (OSAS), leads to an increase in the degradation of adenosine triphosphatase into xanthine, which in turn increases uric acid concentrations.

Objective

The current study aimed to determine whether an association exists between OSAS and uric acid levels in the peripheral blood from a representative population of Sao Paulo (Brazil).

Methods

A population-based survey adopting a probabilistic 3-stage cluster sample of Sao Paulo was used to represent the population according to gender, age, and socioeconomic class. A total of 1,042 volunteers underwent polysomnography recordings for OSAS diagnosis, blood pressure assessment, and biochemical blood analysis, and answered questionnaires.

Results

Uric acid levels were correlated with most important risk factors for OSAS, such as AHI, desaturation time and index, minimum oxyhemoglobin saturation (SpO₂), blood pressure, cholesterol, BMI, triglycerides and arousal, and with OSAS itself. Also, uric acid was increased in OSAS volunteers even after controlling for all confounders. Hyperuricemic volunteers presented lower mean and minimum SpO₂ and increased desaturation index. Importantly, minimum SpO₂ was a significant predictor of uric acid levels, which in turn was considered an independent predictor for OSAS in the binary logistic model. However, a ROC curve analysis for establishing cut-off points for uric acid levels as a biomarker of OSAS revealed moderate sensitivity and specificity.

Conclusion

A strong association was found between uric acid levels and OSAS in a representative sample of the population of Sao Paulo. Although they do not qualify for a biomarker alone, uric acid levels may be involved in OSAS severity and should be considered in sleep apnea management in the future.     

Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity.Key Words: Obstructive sleep apnea, genetic, hypopnea, AHI, snoring, risk factors, phenotype, multifactorial disease.