Sleep-disordered breathing in adult patients with mitochondrial diseases

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011005
Author(s):  
Guido Primiano ◽  
Valerio Brunetti ◽  
Catello Vollono ◽  
Anna Losurdo ◽  
Rossana Moroni ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Prospective Observational Study ◽  
Central Sleep Apnea ◽  
Mitochondrial Diseases ◽  
Population Based ◽  
Genotype Combination ◽  
Obstructive Sleep ◽  
Specific Subgroup ◽  
Disordered Breathing

ObjectiveTo describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases.MethodsThis is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All subjects had a defined mitochondrial disease and were investigated by full night polysomnography.Results103 consecutive patients were enrolled. SDB was demonstrated in 49 patients (47.6%). Regarding phenotypes, we found differences in distribution between the groups: patients affected by PEO with single or multiple mtDNA deletions frequently had obstructive apneas (50% and 43.8%) or REM-related hypoventilation when associated with m.3243A>G mutations (75%). Furthermore, a high percentage of subjects with MIDD and MERRF syndromes were characterized respectively by obstructive sleep apnea and REM-related hypoventilation. Differently from what is previously reported, central sleep apnea was rarely reported in our cohort.ConclusionsSDB has a higher prevalence in MDs compared to general population-based data. Overall, these results suggest that patients characterized by a specific phenotype-genotype combination are most at risk of developing a specific subgroup of SDB. The early identification of this disorder is crucial in the management of these fragile patients.

scholarly journals Sleep-disordered Breathing in Uncontrolled Blood Pressure: Our Experience

2018 ◽  
Vol 1 (1) ◽  
pp. 36-38
Author(s):  
Milesh Jung Sijapati ◽  
Minalma Pandey ◽  
Nirupama Khadka ◽  
Poojyashree Karki
Keyword(s):  
Blood Pressure ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Central Sleep Apnea ◽  
Upper Airway Resistance Syndrome ◽  
Uncontrolled Blood Pressure ◽  
Antihypertensive Regimen ◽  
Obstructive Sleep ◽  
Disordered Breathing

Introduction: Sleep-disordered breathing is one of the greatest health problems. It comprises of obstructive sleep apnea, central sleep apnea, periodic breathing, and upper airway resistance syndrome. There are several studies reporting association of uncontrolled blood pressurewith individuals having sleep disordered breathing. Data regarding this were sparse in developing countries. Therefore this study was performed to find out the sleep-disordered breathing among uncontrolled hypertensive patients.Materials and Methods: Study was performed from January, 2014 to January, 2017 in sleep center in Kathmandu, Nepal. Patient with uncontrolled BP were included. Uncontrolled BP was defined as blood pressure>130/80mmHg not on intensive antihypertensive regimen and resistant elevated BP was defined as blood pressure >130/80 mmHg despite intensive antihypertensive regimen. These patients were subjected for polysomnography.Results: Three hundred patients were selected out of which 250 patients with uncontrolled blood pressure were included. They were subjected for overnight polysomnography. Among them, 70patients (28%)were found to have mild obstructive sleep apnea, 20 patients had moderate obstructive sleep apnea (8%)&15 had severe obstructive sleep apnea (6%).Conclusions: This study concludes that those individuals having uncontrolled blood pressure has obstructive sleep apnea and these individuals have to undergo polysomnography.Nepalese Medical Journal, vol.1, No. 1, 2018, page: 36-38

scholarly journals Canadian Thoracic Society 2011 Guideline Update: Diagnosis and Treatment of Sleep Disordered Breathing

2011 ◽  
Vol 18 (1) ◽  
pp. 25-47 ◽  
Author(s):  
John Fleetham ◽  
Najib Ayas ◽  
Douglas Bradley ◽  
Michael Fitzpatrick ◽  
Thomas K Oliver ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Continuous Positive Airway Pressure ◽  
Airway Pressure ◽  
Sleep Disordered Breathing ◽  
Positive Airway Pressure ◽  
Sleep Apnea Syndrome ◽  
Central Sleep Apnea ◽  
Diagnosis And Treatment ◽  
Obstructive Sleep ◽  
Disordered Breathing

The Canadian Thoracic Society (CTS) published an executive summary of guidelines for the diagnosis and treatment of sleep disordered breathing in 2006/2007. These guidelines were developed during several meetings by a group of experts with evidence grading based on committee consensus. These guidelines were well received and the majority of the recommendations remain unchanged. The CTS embarked on a more rigorous process for the 2011 guideline update, and addressed eight areas that were believed to be controversial or in which new data emerged. The CTS Sleep Disordered Breathing Committee posed specific questions for each area. The recommendations regarding maximum assessment wait times, portable monitoring, treatment of asymptomatic adult obstructive sleep apnea patients, treatment with conventional continuous positive airway pressure compared with automatic continuous positive airway pressure, and treatment of central sleep apnea syndrome in heart failure patients replace the recommendations in the 2006/2007 guidelines. The recommendations on bariatric surgery, complex sleep apnea and optimum positive airway pressure technologies are new topics, which were not covered in the 2006/2007 guidelines.

Looking both ways before crossing the street: Assessing the benefits and risk of opioids in treating patients at risk of sleep disordered breathing for pain and dyspnea

2017 ◽  
Vol 13 (3) ◽  
pp. 183 ◽  
Author(s):  
Mellar P. Davis, MD, FCCP, FAAHPM ◽  
Bertrand Behm, MD ◽  
Diwakar Balachandran, MD
Keyword(s):  
At Risk ◽  
Sleep Apnea ◽  
Cardiovascular Events ◽  
Sleep Disordered Breathing ◽  
Central Sleep Apnea ◽  
Chronic Obstructive ◽  
Chronic Noncancer Pain ◽  
Obstructive Sleep ◽  
Increased Risk ◽  
Disordered Breathing

Opioids adversely influence respiration in five distinct ways. Opioids reduce the respiratory rate, tidal volume, amplitude, reflex responses to hypercapnia and hypoxia, and arousability related necessary for respiratory adaptive responses. Opioids cause impairment of upper pharyngeal dilator muscles leading to obstructive apnea. Opioids cause complex sleep disordered breathing (SDB) consisting of central sleep apnea and obstructive sleep apnea. Clinically opioids worsen preexisting SDB. Recent studies have shown increased morbidity and mortality in patients receiving opioids for chronic noncancer pain and chronic obstructive pulmonary disease, which appear to be related to cardiovascular events, not overdose. Both patient populations are at risk for sleep disordered breathing and increased risk for adverse cardiovascular events on opioids for dyspnea or pain. This review discusses the influence of opioids on respiration and SDB and will review the adverse respiratory and cardiovascular effects of opioid use in at risk populations. Recommendations regarding management will follow as a summary.

Sleep-Disordered Breathing and Nocturnal Hypoxemia in Precapillary Pulmonary Hypertension: Prevalence, Pathophysiological Determinants, and Clinical Consequences

Respiration ◽  
2021 ◽  
pp. 1-12
Author(s):  
Jens Spiesshoefer ◽  
Simon Herkenrath ◽  
Katharina Harre ◽  
Florian Kahles ◽  
Anca Florian ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Sleep Apnea ◽  
Sleep Quality ◽  
Sleep Disordered Breathing ◽  
Central Sleep Apnea ◽  
Apnea Hypopnea Index ◽  
Amino Terminal ◽  
Nocturnal Hypoxemia ◽  
Obstructive Sleep ◽  
Disordered Breathing

<b><i>Background and objective:</i></b> The clinical relevance and interrelation of sleep-disordered breathing and nocturnal hypoxemia in patients with precapillary pulmonary hypertension (PH) is not fully understood. <b><i>Methods:</i></b> Seventy-one patients with PH (age 63 ± 15 years, 41% male) and 35 matched controls were enrolled. Patients with PH underwent clinical examination with assessment of sleep quality, daytime sleepiness, 6-minute walk distance (6MWD), overnight cardiorespiratory polygraphy, lung function, hypercapnic ventilatory response (HCVR; by rebreathing technique), amino-terminal pro-brain natriuretic peptide (NT-proBNP) levels, and cardiac MRI (<i>n</i> = 34). <b><i>Results:</i></b> Prevalence of obstructive sleep apnea (OSA) was 68% in patients with PH (34% mild, apnea-hypopnea index [AHI] ≥5 to &#x3c;15/h; 34% moderate to severe, AHI ≥15/h) versus 5% in controls (<i>p</i> &#x3c; 0.01). Only 1 patient with PH showed predominant central sleep apnea (CSA). Nocturnal hypoxemia (mean oxygen saturation [SpO<sub>2</sub>] &#x3c;90%) was present in 48% of patients with PH, independent of the presence of OSA. There were no significant differences in mean nocturnal SpO<sub>2</sub>, self-reported sleep quality, 6MWD, HCVR, and lung and cardiac function between patients with moderate to severe OSA and those with mild or no OSA (all <i>p</i> &#x3e; 0.05). Right ventricular (RV) end-diastolic (<i>r</i> = −0.39; <i>p</i> = 0.03) and end-systolic (<i>r</i> = −0.36; <i>p</i> = 0.04) volumes were inversely correlated with mean nocturnal SpO<sub>2</sub> but not with measures of OSA severity or daytime clinical variables. <b><i>Conclusion:</i></b> OSA, but not CSA, is highly prevalent in patients with PH, and OSA severity is not associated with nighttime SpO<sub>2</sub>, clinical and functional status. Nocturnal hypoxemia is a frequent finding and (in contrast to OSA) relates to structural RV remodeling in PH.

Sleep-disordered breathing in patients on opioids for chronic pain

2020 ◽  
Vol 45 (10) ◽  
pp. 826-830
Author(s):  
Janannii Selvanathan ◽  
Philip W H Peng ◽  
Jean Wong ◽  
Clodagh M Ryan ◽  
Frances Chung
Keyword(s):  
Chronic Pain ◽  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Clinical Care ◽  
Central Sleep Apnea ◽  
Well Being ◽  
Pressure Therapy ◽  
Obstructive Sleep ◽  
Pain Clinics ◽  
Disordered Breathing

The past two decades has seen a substantial rise in the use of opioids for chronic pain, along with opioid-related mortality and adverse effects. A contributor to opioid-associated mortality is the high prevalence of moderate/severe sleep-disordered breathing, including central sleep apnea and obstructive sleep apnea, in patients with chronic pain. Although evidence-based treatments are available for sleep-disordered breathing, patients are not frequently assessed for sleep-disordered breathing in pain clinics. To aid healthcare providers in this area of clinical uncertainty, we present evidence on the interaction between opioids and sleep-disordered breathing, and the prevalence and predictive factors for sleep-disordered breathing in patients on opioids for chronic pain. We provide recommendations on how to evaluate patients on opioids for risk of moderate/severe sleep-disordered breathing in clinical care, which could lead to earlier use of therapeutic interventions for opioid-associated sleep-disordered breathing, such as opioid cessation or positive airway pressure therapy. This would improve quality of life and well-being of patients with chronic pain.

scholarly journals Sleep-Disordered Breathing During Congestive Heart Failure: To Intervene or Not to Intervene?

2017 ◽  
Vol 3 (2) ◽  
pp. 134 ◽  
Author(s):  
Ali Valika ◽  
Maria Rosa Costanzo ◽  
◽  
Keyword(s):  
Heart Failure ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Ejection Fraction ◽  
Sleep Disordered Breathing ◽  
Treatment Strategies ◽  
Central Sleep Apnea ◽  
Reduced Ejection Fraction ◽  
Obstructive Sleep ◽  
Disordered Breathing

Sleep-disordered breathing is common in heart failure patients and is associated with increased morbidity and mortality. Central sleep apnea occurs more commonly in heart failure-reduced ejection fraction, and obstructive sleep apnea occurs more frequently in heart failure with preserved ejection fraction. Although the two types of sleep-disordered breathing have distinct pathophysiologic mechanisms, both contribute to abnormal cardiovascular consequences. Treatment with continuous positive airway pressure for obstructive sleep apnea in heart failure has been well defined, whereas treatment strategies for central sleep apnea in heart failure continue to evolve. Unilateral transvenous neurostimulation has shown promise for the treatment of central sleep apnea. In this paper, we examine the current state of knowledge of treatment options for sleep-disordered breathing in heart failure.

scholarly journals 0968 Sleep-disordered Breathing In Schaaf-yang Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A367-A368
Author(s):  
W Powell ◽  
M Rech ◽  
C Schaaf ◽  
J Wrede
Keyword(s):  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Central Sleep Apnea ◽  
Sleep Time ◽  
Sleep Stages ◽  
Apnea Hypopnea Index ◽  
Sleep Study ◽  
Central Index ◽  
Obstructive Sleep ◽  
Disordered Breathing

Abstract Introduction Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating variants in the MAGEL2 gene located in the maternally imprinted, paternally expressed Prader-Willi syndrome (PWS) region at 15q11-13. The SYS phenotype shares features with PWS, a disorder with known high incidence of central and obstructive sleep apnea (OSA). However the spectrum of sleep-disordered breathing in SYS has not been described. Methods We performed a retrospective analysis of polysomnograms from 22 of the known 115 patients with molecular diagnosis of SYS. Sleep characteristics including total sleep time, latency, efficiency, % sleep stages, apnea-hypopnea index (AHI), obstructive index, central index, and oxygenation were analyzed for the whole group and by truncation location (c.1996dupC variants [n=11] or other locations [n=11]). Only the initial diagnostic study or initial diagnostic portion of a split-night study was used in analysis (analytic n=21). Results We collected 33 sleep study reports from 22 patients, ages 2 months - 18.5 years. Mean analyzed sleep time was 357 minutes (129-589 min) with mean sleep efficiency of 71.45% (45-94%) and sleep latency of 24.8 minutes (0-146 min). The mean apnea-hypopnea index (AHI) was 19.1/hr (0.9 -49/hr) with mean obstructive AHI of 16.3 (0.6-49/hr). Mean central index was 2.8/hr (0-14/hr). 18/21 (86%) were diagnosed with OSA, and 13/21 (62%) with moderate or severe OSA (oAHI &gt;5/hr). Central sleep apnea was diagnosed in 2/21 (9.5%). 15 studies reported periodic limb movement index (PLMI) with mean of 7.8 (0-67/hr) and 4/15 (26%) with PLMI &gt;5. Comparison of genotype groups did not reveal any difference in presence of OSA or severity of OSA. Conclusion OSA is frequently identified on polysomnography in patients with SYS. Central sleep apnea is less common, which is in contrast to PWS. The majority of patients with OSA had moderate or severe OSA, and 47% had severe OSA. Support N/A

scholarly journals Long-term Impact of Adenotonsillectomy on the Quality of Life of Children with Sleep-disordered breathing

2020 ◽  
Author(s):  
Juliana Alves Sousa Caixeta ◽  
Jessica Caixeta Silva Sampaio ◽  
Vanessa Vaz Costa ◽  
Isadora Milhomem Bruno da Silveira ◽  
Carolina Ribeiro Fernandes de Oliveira ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Long Term Effects ◽  
Obstructive Sleep ◽  
Long Term Impact ◽  
Disordered Breathing

Abstract Introduction Adenotonsillectomy is the first-line treatment for obstructive sleep apnea secondary to adenotonsillar hypertrophy in children. The physical benefits of this surgery are well known as well as its impact on the quality of life (QoL), mainly according to short-term evaluations. However, the long-term effects of this surgery are still unclear. Objective To evaluate the long-term impact of adenotonsillectomy on the QoL of children with sleep-disordered breathing (SDB). Method This was a prospective non-controlled study. Children between 3 and 13 years of age with symptoms of SDB for whom adenotonsillectomy had been indicated were included. Children with comorbities were excluded. Quality of life was evaluated using the obstructive sleep apnea questionnaire (OSA-18), which was completed prior to, 10 days, 6 months, 12 months and, at least, 18 months after the procedure. For statistical analysis, p-values lower than 0.05 were defined as statistically significant. Results A total of 31 patients were enrolled in the study. The average age was 5.2 years, and 16 patients were male. The OSA-18 scores improved after the procedure in all domains, and this result was maintained until the last evaluation, done 22 ± 3 months after the procedure. Improvement in each domain was not superior to achieved in other domains. No correlation was found between tonsil or adenoid size and OSA-18 scores. Conclusion This is the largest prospective study that evaluated the long-term effects of the surgery on the QoL of children with SDB using the OSA-18. Our results show adenotonsillectomy has a positive impact in children's QoL.

569 Correlation between age and initial findings of sleep disordered breathing in children with achondroplasia

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A224-A225
Author(s):  
Fayruz Araji ◽  
Cephas Mujuruki ◽  
Brian Ku ◽  
Elisa Basora-Rovira ◽  
Anna Wani
Keyword(s):  
Sleep Apnea ◽  
Primary Care Physicians ◽  
Sleep Disordered Breathing ◽  
Upper Airway ◽  
Sleep Study ◽  
Surgical Interventions ◽  
Screening Guidelines ◽  
Obstructive Sleep ◽  
Children’S Sleep ◽  
Disordered Breathing

Abstract Introduction Achondroplasia (ACH) occurs approximately 1 in 20,000–30,000 live births. They are prone to sleep disordered breathing specifically due to the upper airway stenosis, enlarged head circumference, combined with hypotonia and limited chest wall size associated with scoliosis at times. The co-occurrence of sleep apnea is well established and can aide in the decision for surgical intervention, however it is unclear at what age children should be evaluated for sleep apnea. Screening is often delayed as during the daytime there is no obvious gas exchange abnormalities. Due to the rareness of this disease, large studies are not available, limiting the data for discussion and analysis to develop guidelines on ideal screening age for sleep disordered breathing in children with ACH. Methods The primary aim of this study is to ascertain the presence of sleep disorder breathing and demographics of children with ACH at time of first polysomnogram (PSG) completed at one of the largest pediatric sleep lab in the country. The secondary aim of the study is to identify whether subsequent polysomnograms were completed if surgical interventions occurred and how the studies differed over time with and without intervention. Retrospective review of the PSGs from patients with ACH, completed from 2017–2019 at the Children’s Sleep Disorders Center in Dallas, TX. Clinical data, demographics, PSG findings and occurrence of interventions were collected. Results Twenty-seven patients with the diagnosis of ACH met criteria. The average age at the time of their first diagnostic PSG was at 31.6 months of age (2.7 years), of those patients 85% had obstructive sleep apnea (OSA),51% had hypoxemia and 18% had hypercapnia by their first diagnostic sleep study. Of those with OSA, 50% were severe. Majority were females, 55%. Most of our patients were Hispanic (14%), Caucasian (9%), Asian (2%), Other (2%), Black (0%). Each patient had an average of 1.9 PSGs completed. Conclusion Our findings can help create a foundation for discussion of screening guidelines. These guidelines will serve to guide primary care physicians to direct these patients to an early diagnosis and treatment of sleep disordered breathing. Support (if any):

827 Central Sleep Apnea in a patient with Multiple Sclerosis

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A322-A323
Author(s):  
Rahul Dasgupta ◽  
Sonja Schütz ◽  
Tiffany Braley
Keyword(s):  
Multiple Sclerosis ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Sleep Disordered Breathing ◽  
Central Sleep Apnea ◽  
Progressive Multiple Sclerosis ◽  
Obstructive Sleep ◽  
Increased Risk ◽  
Demyelinating Lesions ◽  
The Brain

Abstract Introduction Sleep-disordered breathing is common in persons with multiple sclerosis (PwMS), and may contribute to debilitating fatigue and other chronic MS symptoms. The majority of research to date on SDB in MS has focused on the prevalence and consequences of obstructive sleep apnea; however, PwMS may also be at increased risk for central sleep apnea (CSA), and the utility of methods to assess CSA in PwMS warrant further exploration. We present a patient with secondary progressive multiple sclerosis who was found to have severe central sleep apnea on WatchPAT testing. Report of case(s) A 61 year-old female with a past medical history of secondary progressive multiple sclerosis presented with complaints of fragmented sleep. MRI of the brain, cervical spine, and thoracic spine showed numerous demyelinating lesions in the brain, brainstem, cervical, and thoracic spinal cord. Upon presentation, the patient noted snoring, witnessed apneas, and daytime sleepiness. WatchPAT demonstrated severe sleep apnea, with a pAHI of 63.3, and a minimum oxygen saturation of 90%. The majority of the scored events were non-obstructive in nature (73.1% of all scored events), and occurred intermittently in a periodic fashion. Conclusion The differential diagnosis of fatigue in PwMS should include sleep-disordered breathing, including both obstructive and central forms of sleep apnea. Demyelinating lesions in the brainstem (which may contribute to impairment of motor and sensory networks that control airway patency and respiratory drive), and progressive forms of MS, have been linked to both OSA and CSA. The present data illustrate this relationship in a person with progressive MS, and offer support for the WatchPAT as a cost-effective means to evaluate for both OSA and CSA in PwMS, while reducing patient burden. PwMS may be at increased risk for CSA. Careful clinical consideration should be given to ordering appropriate sleep testing to differentiate central from obstructive sleep apnea in PwMS, particularly for patients with demyelinating lesions in the brainstem. Support (if any) 1. Braley TJ, Segal BM, Chervin RD. Obstructive sleep apnea and fatigue in patients with multiple sclerosis. J Clin Sleep Med. 2014 Feb 15;10(2):155–62. doi: 10.5664/jcsm.3442. PMID: 24532998; PMCID: PMC3899317.

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