852 Severe Central Sleep Apnea in a Patient with Cornelia de Lange Syndrome

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A331-A332
Author(s):  
Aaron Willis ◽  
Lacie Petitto ◽  
Amee Revana

Abstract Introduction Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with characteristic facial dysmorphisms, upper airway structural abnormalities, and varying degrees of intellectual and neurologic deficits. Affected patients can have many sleep problems including chronic insomnia and obstructive sleep apnea; however, there is no literature indicating central sleep apnea as a common sleep disorder in this patient population. We describe a patient with CdLS with an unusual presentation of both severe obstructive and central sleep apnea. Report of case(s) The patient is a 12-year-old female with CdLS, global developmental delay, repaired bilateral cleft-palate, and oropharyngeal dysphagia. She was referred for diagnostic polysomnography for evaluation of snoring. Physical examination findings were significant for distinctive features of the head and face including microcephaly, micrognathia, and synophrys. Neurologically, the patient was non-verbal and wheelchair bound. Pre-evaluation screening indicated no concerns from the caregiver regarding problems with sleep initiation, maintenance, or daytime symptoms. Polysomnography (PSG) at age 7 years revealed severe obstructive and central sleep apnea with an apnea-hypopnea index (AHI) of 78.2/hr. The majority of these were central events (68.44/hr). There were no epileptiform foci recorded. Bilevel Positive Airway Pressure (BPAP) in Spontaneous/Timed (S/T) mode was titrated during the study which resolved all central events. Magnetic resonance imaging of the brain was obtained indicating mild hypoplasia of the corpus callosum. Since the initial PSG, 5 additional routine studies were conducted and progressive worsening of central sleep apnea was noted with the highest recorded AHI of 108.8/hr (central events: 81.4/hr). Apneic events were fairly managed with BPAP in ST mode. Conclusion Sleep-disordered breathing in CdLS is an increasingly diagnosed entity. While previous literature indicates airway obstruction as a common cause for sleep apnea in children with CdLS, our case suggests that clinicians should consider central causes of sleep apnea in these patients. Given the sub-clinical progression of sleep apnea in this case study, routine follow up PSGs should be considered. Further research is necessary to increase knowledge of the incidence and management of central sleep apnea in children with CdLS. Support (if any):

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A156-A157
Author(s):  
Sikawat Thanaviratananich ◽  
Hao Cheng ◽  
Maria Pino ◽  
Krishna Sundar

Abstract Introduction The apnea-hypopnea index (AHI) is used as a generic index to quantify both central sleep apnea (CSA) and obstructive sleep apnea (OSA) syndromes. Patterns of oxygenation abnormalities seen in CSA and OSA may be key to understanding differing clinical impacts of these disorders. Oxygen desaturation and resaturation slopes and durations in OSA and CSA were compared between OSA and CSA patients. Methods Polysomnographic data of patients aged 18 years or older with diagnosis of OSA and CSA, at University of Iowa Hospitals and Clinics, were analyzed and demographic data were collected. Oximetric changes during hypopneas and apneas were studied for desaturation/resaturation durations and desaturation/resaturation slopes. Desaturation and resaturation slopes were calculated as rate of change in oxygen saturation (ΔSpO2/Δtime). Comparison of hypoxemia-based parameters between patients with OSA and CSA was performed using unpaired t-test. Results 32 patients with OSA with median AHI of 15.4 (IQR 5.1 to 30.55) and median ODI of 15.47 (IQR 9.50 to 29.33) were compared to 15 patients with CSA with a median AHI of 20.4 (IQR 12.6 to 47.8) and median ODI of 27.56 (IQR 17.99 to 29.57). The mean number of desaturation and resaturation events was not significantly different between patients with OSA and CSA (OSA - 106.81±87.93; CSA - 130.67±76.88 with a p-value 0.1472). 4/15 CSA patients had Cheyne-Stokes breathing, 2/15 had treatment emergent central sleep apnea, 1/15 had methadone-associated CSA and for 8/15, no etiologies for CSA were found. Mean desaturation durations was significantly longer in OSA (20.84 s ± 5.67) compared to CSA (15.94 s ± 4.54) (p=0.0053) and consequently the desaturation slopes were steeper in CSA than OSA (-0.35%/sec ±0.180 vs. -0.243 ± 0.073; p=0.0064). The resaturation duration was not significantly longer in OSA (9.76 s ± 2.02) than CSA (9.057 s ± 2.17) (p=0.2857). Differences between desaturation duration and slopes between CSA and OSA persisted during REM and NREM sleep, and in supine sleep. Conclusion As compared to OSA, patients with CSA have different patterns of desaturations and resaturations with lesser hypoxic burden with CSA. This may have implications on the clinical outcomes seen between these two disorders. Support (if any):


2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Dany Jaffuel ◽  
Carole Philippe ◽  
Claudio Rabec ◽  
Jean-Pierre Mallet ◽  
Marjolaine Georges ◽  
...  

Abstract Backgrounds As a consequence of the increased mortality observed in the SERVE-HF study, many questions concerning the safety and rational use of ASV in other indications emerged. The aim of this study was to describe the clinical characteristics of ASV-treated patients in real-life conditions. Methods The OTRLASV-study is a prospective, 5-centre study including patients who underwent ASV-treatment for at least 1 year. Patients were consecutively included in the study during the annual visit imposed for ASV-reimbursement renewal. Results 177/214 patients were analysed (87.57% male) with a median (IQ25–75) age of 71 (65–77) years, an ASV-treatment duration of 2.88 (1.76–4.96) years, an ASV-usage of 6.52 (5.13–7.65) hours/day, and 54.8% were previously treated via continuous positive airway pressure (CPAP). The median Epworth Scale Score decreased from 10 (6–13.5) to 6 (3–9) (p < 0.001) with ASV-therapy, the apnea-hypopnea-index decreased from 50 (38–62)/h to a residual device index of 1.9 (0.7–3.8)/h (p < 0.001). The majority of patients were classified in a Central-Sleep-Apnea group (CSA; 59.3%), whereas the remaining are divided into an Obstructive-Sleep-Apnea group (OSA; 20.3%) and a Treatment-Emergent-Central-Sleep-Apnea group (TECSA; 20.3%). The Left Ventricular Ejection Fraction (LVEF) was > 45% in 92.7% of patients. Associated comorbidities/etiologies were cardiac in nature for 75.7% of patients (neurological for 12.4%, renal for 4.5%, opioid-treatment for 3.4%). 9.6% had idiopathic central-sleep-apnea. 6.2% of the patients were hospitalized the year preceding the study for cardiological reasons. In the 6 months preceding inclusion, night monitoring (i.e. polygraphy or oximetry during ASV usage) was performed in 34.4% of patients, 25.9% of whom required a subsequent setting change. According to multivariable, logistic regression, the variables that were independently associated with poor adherence (ASV-usage ≤4 h in duration) were TECSA group versus CSA group (p = 0.010), a higher Epworth score (p = 0.019) and lack of a night monitoring in the last 6 months (p < 0.05). Conclusions In real-life conditions, ASV-treatment is often associated with high cardiac comorbidities and high compliance. Future research should assess how regular night monitoring may optimize devices settings and patient management. Trial registration The OTRLASV study is registered on ClinicalTrials.gov (Identifier: NCT02429986) on 1 April 2015.


2020 ◽  
Vol 56 (01) ◽  
pp. 09-14
Author(s):  
Sreejith M. ◽  
Mohd Ashraf Ganie ◽  
Ravinder Goswami ◽  
Nikhil Tandon ◽  
Randeep Guleria ◽  
...  

Abstract Introduction Sleep-related breathing disorders (SRBDs) including obstructive sleep apnea (OSA) and central sleep apnea (CSA) are quite common and are the leading causes of mortality in acromegaly. OSA in acromegaly is generally attributed to changes in oropharyngeal soft tissues. Data on OSA in Indian acromegaly are scant, especially cephalometric findings. The aim of this study is to evaluate the burden of SRBDs in acromegaly and its correlation to cephalometric parameters. Materials and Methods A total of 32 subjects (20 men and 12 women), diagnosed with acromegaly on the basis of standard clinical, biochemical, and hormonal measurements were recruited. In addition to the above parameters, polysomnography and magnetic resonance imaging (MRI) of the pharynx were performed in all subjects. Results The mean age of the subjects was 42.66 ± 11.13 years (range = 26–66) and mean duration of study after first presentation was 7.6 ± 6.3 years (range = 0.25–32). A total of 28 of 32 (93.3%) subjects had sellar MRI documented macroadenomas while 20 (62.5%) patients were treatment naive at the time of assessment. Twenty-nine (90.6%) patients had evidence of SRBD and all of them had OSA subtype. The Apnea–Hypopnea Index (AHI) indicating severity of OSA (mild 21.8%, moderate 34.4%, and severe 34.4%) correlated positively with tongue length, uvula length, and uvula thickness on MRI. However, AHI had no correlation with the severity of GH excess or disease activity or individual parameters such as weight, body mass index, blood pressure, hemoglobin A1c, serum human growth hormone, and insulin-like growth factor-1 level. Conclusion SRBD, the generally overlooked comorbidity, is highly prevalent in subjects with acromegaly and is almost always due to OSA, the severity of which correlates positively with tongue and uvula size. Well-designed, long-term follow-up study on a large cohort of acromegalic patients is required to improve our understanding on the subject.


2019 ◽  
Author(s):  
Sina Akbarian ◽  
Nasim Montazeri Ghahjaverestan ◽  
Azadeh Yadollahi ◽  
Babak Taati

BACKGROUND Sleep apnea is a respiratory disorder characterized by an intermittent reduction (hypopnea) or cessation (apnea) of breathing during sleep. Depending on the presence of a breathing effort, sleep apnea is divided into obstructive sleep apnea (OSA) and central sleep apnea (CSA) based on the different pathologies involved. If the majority of apneas in a person are obstructive, they will be diagnosed as OSA or otherwise as CSA. In addition, as it is challenging and highly controversial to divide hypopneas into central or obstructive, the decision about sleep apnea type (OSA vs CSA) is made based on apneas only. Choosing the appropriate treatment relies on distinguishing between obstructive apnea (OA) and central apnea (CA). OBJECTIVE The objective of this study was to develop a noncontact method to distinguish between OAs and CAs. METHODS Five different computer vision-based algorithms were used to process infrared (IR) video data to track and analyze body movements to differentiate different types of apnea (OA vs CA). In the first two methods, supervised classifiers were trained to process optical flow information. In the remaining three methods, a convolutional neural network (CNN) was designed to extract distinctive features from optical flow and to distinguish OA from CA. RESULTS Overnight sleeping data of 42 participants (mean age 53, SD 15 years; mean BMI 30, SD 7 kg/m<sup>2</sup>; 27 men and 15 women; mean number of OA 16, SD 30; mean number of CA 3, SD 7; mean apnea-hypopnea index 27, SD 31 events/hour; mean sleep duration 5 hours, SD 1 hour) were collected for this study. The test and train data were recorded in two separate laboratory rooms. The best-performing model (3D-CNN) obtained 95% accuracy and an <i>F</i><sub>1</sub> score of 89% in differentiating OA vs CA. CONCLUSIONS In this study, the first vision-based method was developed that differentiates apnea types (OA vs CA). The developed algorithm tracks and analyses chest and abdominal movements captured via an IR video camera. Unlike previously developed approaches, this method does not require any attachment to a user that could potentially alter the sleeping condition.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A428-A428
Author(s):  
G Gulati ◽  
D J Schwartz ◽  
S Nallu ◽  
K Bell ◽  
L Wittine ◽  
...  

Abstract Introduction Sleep-related breathing disorders are common after TBI. To date, two single site studies have reported divergent findings in post-TBI patients with one reporting predominantly obstructive sleep apnea (OSA, Holcomb et al., 2016) and the other central sleep apnea (CSA, Webster and Bell, 1998). The purpose of this analysis is to explore prevalence, demographics, and injury characteristics of patients with a clinical diagnosis of CSA in a recently-completed multicenter comparative-effectiveness trial during inpatient rehabilitation following moderate to severe TBI. Methods Participants in a six-center diagnostic comparative effectiveness trial underwent Level-1 polysomnography (PSG) during inpatient rehabilitation for TBI. Studies were scored at a centralized scoring center by one of two certified PSG technicians with final interpretation by a board-certified sleep medicine physician. Results 21 of 248 (8.5%) participants evidenced elevated CSA indices &gt;5. Predominant CSA was rare (n=3 [1.2%], age range: 36-59; 100% male; 33-52 days post-TBI). One participant was on opioid, anti-depressant and antiepileptic drugs, one was on an antiepileptic, and another was on an opioid. PAP therapy was not initiated during PSG thus there was no treatment-emergent CSA. All had a central apnea-hypopnea index (AHI) in the moderate to severe range (29-49). Two out of the three had a GCS &lt;8 and one participant had a GCS of 14. Conclusion In this multi-center clinical trial, predominant CSA was rare. The common practice of reducing polypharmacy in order to minimize sedation and optimize mental status in specialized inpatient brain-injury rehabilitation programs may contribute to the low CSA incidence in this cohort. Attention to medication side-effects and their influence on sleep-related breathing should be routinely considered. Support PCORI (CER-1511-33005), GDHS (W91YTZ-13-C-0015) for DVBIC, NIDILRR (90DPTB0008-03-00; 90DPTB0013-01-00).


Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Patricia Tung ◽  
Yamini S Levitzky ◽  
Rui Wang ◽  
Stuart F Quan ◽  
Daniel J Gottlieb ◽  
...  

INTRODUCTION: Prior studies have documented a higher prevalence of atrial fibrillation (AF) in those with obstructive sleep apnea (OSA). OSA has been associated with AF recurrence following cardioversion and ablation, and with prevalent and incident AF in cross-sectional and retrospective studies. Central sleep apnea (CSA) also has been associated with AF in patients with heart failure. However, data from prospective cohorts are sparse and few studies have evaluated the association of CSA with AF in population studies. METHODS: We assessed the association of OSA and CSA with incident AF among 3,420 subjects without a history of AF in the Sleep Heart Health Study (SHHS), a prospective, community-based study designed to evaluate the cardiovascular consequences of sleep disordered breathing. Subjects underwent overnight polysomnography at baseline and were followed over time for the development of incident AF, documented at any time after baseline polysomnogram until the end of follow-up. OSA was defined as an obstructive apnea-hypopnea index ≥ 5 and CSA was defined as a central apnea index ≥ 5. RESULTS: At baseline, the sample include 1499 men (44.4%) with a mean age of 62.4 (±10.9); 1569 (45.9%) subjects met criteria for mild to severe OSA and 54 (1.6%) for CSA. Over a mean follow-up of 8.2 years, 382 cases of incident AF were identified. The prevalence of both OSA and CSA was higher among those who developed AF compared to those who did not (OSA 49% vs 44%, p=0.001 and CSA 5% vs 1.2%, p=0.001). After adjustment for multiple AF risk factors, CSA was associated with an approximately 2-fold increased odds of incident AF (RR=2.38, 95% CI, 1.15-4.94; p = 0.02). The association persisted after exclusion of 258 subjects with a history of heart failure (RR=2.78, 95% CI, 1.28-6.04; p = 0.01). We did not find a significant association of OSA with incident AF (Table). CONCLUSION: In our prospective, community-based cohort baseline CSA was associated with incident AF.


Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Andrew D Calvin ◽  
Virend K Somers ◽  
Jennifer M Miller ◽  
David P Steensma ◽  
Lyle J Olson

Central sleep apnea (CSA) with nocturnal hypoxia is frequent in heart failure (HF). Hypoxia causes increased circulating erythropoietin (EPO) in healthy normals. EPO promotes increased vasoconstriction and exogenous EPO administration is associated with adverse cardiovascular events. No prior studies have related EPO concentration to apnea or hypoxia due to CSA. EPO is elevated in HF patients with nocturnal hypoxia due to CSA. Ambulatory, non-anemic HF patients (n = 29) with LVEF < 45% and healthy controls (n = 18) underwent polysomnography (PSG). Subjects with obstructive sleep apnea (OSA) were excluded. CSA was defined as apnea-hypopnea index (AHI) ≥ 15. Hypoxia was quantified as the proportion of sleep with arterial oxygen saturation < 90% (T90%). Blood for EPO was drawn post-PSG. Other clinical characteristics were summarized from the medical record. HF subjects and controls were similar age (54 vs 60 y, p = 0.09). CSA was present in 14 HF subjects; 13 were men compared to 8 of 15 without CSA (p = 0.04). HF subjects had 42% higher mean EPO than controls (p < 0.01) despite similar hemoglobin (13.9 vs 14.0 g/dL, p = 0.8). NYHA class III–IV HF subjects had 42% higher mean EPO than class I–II HF subjects (p = 0.05, figure ). EPO concentration was correlated with severity of nocturnal hypoxia by simple linear regression (r = 0.4; p = 0.02). By multivariate analysis, elevated EPO was associated with NYHA class III–IV HF and elevated AHI (p = 0.01 and 0.03, respectively; r = 0.6) after adjusting for age, gender, LVEF, renal function and hemoglobin. Nocturnal hypoxia due to CSA promotes increased endogenous EPO concentration in HF patients.


2019 ◽  
pp. 642-653
Author(s):  
Ai Ping Chua ◽  
Loutfi S. Aboussouan

This chapter presents a case of treatment-emergent central sleep apnea (TECSA), which is also known as complex sleep apnea syndrome or continuous positive airway pressure (CPAP)–emergent central sleep apnea. In this disorder, central apnea events emerge in patients with obstructive sleep apnea (OSA) after initiation of CPAP treatment. This phenomenon has been identified in up to 20% of patients with OSA who undergo CPAP titration. Polysomnography in those with TECSA usually shows an elevated residual Apnea–Hypopnea Index and arousal index after PAP initiation and occurs primarily during non–rapid-eye-movement sleep. Several mechanisms that have been postulated will be reviewed. The phenomenon is usually self-limiting, and recommended management includes applying the lowest PAP pressure needed to achieve reasonable control and avoiding modalities that exacerbate hypocapnia.


SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A25-A25
Author(s):  
Jordan Bird ◽  
Jason Chan ◽  
Alexander Rimke ◽  
Anne Kalker ◽  
Garrick Chan ◽  
...  

Abstract Introduction Sleep disordered breathing comes in two forms: obstructive and central sleep apnea (SA). Obstructive sleep apnea (OSA) is caused by upper airway collapse during sleep, and is associated with increases in morbidity and mortality. Conversely, central sleep apnea (CSA) results from increases in respiratory chemosensitivity to blood gas challenges in the context of high-altitude ascent. CSA increases in severity and apneas shorten in duration with higher ascent and/or time spent at altitude. Although both types of SA are characterized by intermittent periods of apnea and hyperventilation, the underlying mechanisms and phenotypes between OSA and CSA are different. A universal scoring system for the two types of context-dependent SA may lead to errors in quantification. The American Association of Sleep Medicine (AASM) developed assessment criteria for SA, which are universally-utilized for all types of SA to quantify an apnea-hypopnea index (AHI; events/hour), where apneas are scored as cessation of breathing ≥10-sec. We aimed to assess the effect of reducing the apnea-detection threshold (ADT) to &lt;10-sec to quantitatively assess the extent that a shorter ADT affects the scoring of AHI in the context of high-altitude ascent, where CSA is universal. Methods We assessed CSA using portable polysomnography (ApneaLink, ResMed) during ascent to 5160m in the Nepal Himalaya over 10 days in 15 healthy participants. Files were archived digitally for later analysis using automated scoring software (ApneaLink Reporting Software, ResMed). We quantified and compared AHI using AASM criteria (i.e., 10-sec ADT) and a shorter 5-sec ADT. Results AHI was 3.9±4.1 events/hour at 1045m prior to ascent, with AHI increasing to 37.5±32.8 events/hour (P&lt;0.0001) at 5160m after 10 days of incremental ascent using AASM criteria (i.e., 10-sec ADT). When the ADT was reduced to 5-sec at 5160m, AHI was increased to 61.6±38.1 (+61%; P=0.0002). Conclusion This preliminary report suggests that the AASM criterion for scoring apneas, which is broadly applied to OSA at low altitude, may underestimate the assessment and quantification of CSA with ascent to and prolonged stays at high altitude. Development of distinct assessment criteria for OSA and CSA may be warranted. Support (if any) Natural Science sand Engineering Research Council of Canada


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