Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sleep apnea is a major public health problem that afflicts 9% of women and 24% of men 30 to 60 years of age. It is highly treatable, but when untreated, it has been associated with (but not necessarily linked to) increased probability of cerebral and coronary vascular disease, congestive heart failure, metabolic dysfunction, cognitive dysfunction, excessive daytime sleepiness, motor vehicle accidents, reduced productivity, and decreased quality of life. The gold standard for treatment in adults is positive airway pressure (PAP) therapy: continuous PAP (CPAP), bilevel PAP, autotitrating CPAP, or autotitrating bilevel PAP. Measures to increase compliance with PAP therapy include medical or surgical treatment of any underlying nasal obstruction, setting appropriate pressure level and airflow, mask selection and fitting, heated humidification, desensitization for claustrophobia, patient and partner education, regular follow-up with monitoring of compliance software, and attendance of support groups (eg, AWAKE). Adjunctive treatment modalities include lifestyle or behavioral measures and pharmacologic therapy. Patients with significant upper airway obstruction who are unwilling or unable to tolerate PAP therapy may benefit from surgery. Multilevel surgery of the upper airway addresses obstruction of the nose, oropharynx, and hypopharynx. A systematic approach may combine surgery of the nose, pharynx, and hypopharynx in phase 1, whereas skeletal midface advancement or tracheotomy constitutes phase 2. Clinical outcomes are reassessed through attended diagnostic polysomnogram performed 3 to 6 months after surgery. Oral appliances can be used for patients with symptomatic mild or moderate sleep apnea who prefer them to PAP therapy or for whom PAP therapy has failed or cannot be tolerated. Oral appliances also may be used for patients with severe obstructive sleep apnea who are unable or unwilling to undertake PAP therapy or surgery. For children, the main treatment modality is tonsillectomy and adenoidectomy, with or without turbinate surgery. Children with craniofacial abnormalities resulting in maxillary or mandibular insufficiency may benefit from palatal expansion or maxillary/mandibular surgery. PAP therapy may be used for children who are not surgical candidates or if surgery fails.
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PMID:Treatment options for obstructive sleep apnea. 1974 2

Sleep apnea is prevalent among patients with traumatic brain injuries (TBIs), and initial studies suggest it is associated with cognitive impairments in these patients. Recent studies found that the apolipoprotein epsilon 4 (APOE epsilon 4) allele increases the risk for sleep disordered breathing, particularly sleep apnea. The APOE epsilon 4 allele is associated with cognitive decline and the development of dementia in the general population as well as in patients with TBI. These findings raise the question of whether patients with TBI who are APOE epsilon 4 allele carriers are more vulnerable to the negative effects of sleep apnea on their cognitive functioning. While few treatments are available for cognitive impairment, highly effective treatments are available for sleep apnea. Here we review these different lines of evidence, making a case that the interactive effects of sleep apnea and the APOE epsilon 4 allele represent an important mechanism by which patients with TBI may develop a range of cognitive and neurobehavioral impairments. Increased understanding of the relationships among sleep apnea, the APOE epsilon 4 allele, and cognition could improve our ability to ameliorate one significant source of cognitive impairment and risk for dementia associated with TBI.
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PMID:Sleep apnea, apolipoprotein epsilon 4 allele, and TBI: mechanism for cognitive dysfunction and development of dementia. 2010 7

Sleep disordered breathing (SDB) is a frequent finding in the elderly. SDB is related to morbidity, mortality, quality of life, disability, and cognitive impairment. Treatment of choice for SDB is nasal positive airway pressure breathing (nCPAP). The impact of treatment for SDB on activities of daily living (ADLs) is unclear. We therefore investigated the relationship between SDB and ADLs in a sample of elderly in-hospital patients with severe SDB defined as a oxygen desaturation index of 30 events per hour. All patients eligible were assigned to nCPAP therapy. Patients with refusal of nCPAP were offered nocturnal oxygen supply via nasal prongs. The Barthel-index (BI) at admission and discharge was used to measure ADLs. Two hundred patients with a mean age of 81+/-7 years were included. 22 (11%) patients accepted nCPAP therapy, 42 (21%) patients accepted oxygen therapy and 136 (68%) patients refused both treatment options. The subgroups did not differ significantly in BI at admission and length of stay in hospital. BI increased from 42+/-28 to 49+/-30 in patients with refusal of any treatment, from 39+/-23 to 61+/-20 in patients with oxygen therapy and from 48+/-35 to 72+/-28 in patients with nCPAP therapy. The BI at discharge differed significantly between all three patients groups (p< 0.03). Logistic regression analysis revealed that Barthel Index at admission and treatment with nCPAP or treatment with oxygen were independently associated with a gain in BI of at least 30 points. Age, dementia or length of in-hospital stay showed no association with gain in BI. This is the first study that shows an impact of treatment for severe SDB on ADLs in elderly patients. Furthermore, treatment with nCPAP and oxygen supply nearly had the same impact on ADLs. Since the higher rate of acceptance of oxygen therapy and the important impact of oxygen supply on BI, administration of oxygen seems to be a rational alternative in elderly subjects with severe sleep apnea and refusal of nCPAP.
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PMID:Influence of type of treatment for sleep apnea on activities of daily living in a sample of elderly patients with severe sleep apnea. 2013 39

This paper reviews the characteristics of sleep disorders found in people at a greater risk of dementia: the elderly adult, patients with mild cognitive impairment (MCI) and those with neurodegenerative diseases. The frequency of sleep architecture modifications and circadian rhythm sleep disturbances increases with age. Although around 40% of older adults complain of poor sleep, true sleep disorders are far less prevalent in healthy older adults and are frequently associated with comorbidities. The sleep disorders observed in Alzheimer's disease (AD) patients are often similar to (but more intense than) those found in non-demented elderly people. Poor sleep results in an increased risk of significant morbidities and even mortality in demented patients and constitutes a major source of stress for caregivers. The prevalence of primary sleep disorders such as rapid eye movement (REM) sleep behavior disorders (RBDs), restless legs syndrome (RLS), periodic limb movements (PLMs) and sleep-disordered breathing increases with age. There are no published data on RLS and PLMs in demented persons but RBDs and sleep apnea syndrome have been studied more extensively. In fact, RBDs are suggestive of Lewy body dementia (LBD) and are predictive for neurodegeneration in Parkinson's disease. Obstructive sleep apnea (OSA) shares common risk factors with AD and may even be an integral part of the pathological process in AD. In MCI patients, the hypotheses in which (i) sleep disorders may represent early predictive factors for progression to dementia and (ii) MCI is symptomatic of a non-diagnosed sleep disorder remain to be elucidated. Guidelines for drug and non-drug treatments of sleep disorders in the elderly and in demented patients are also considered in this review. In healthy but frail elderly people and in early-stage AD patients, sleep should be more thoroughly characterized (notably by using standardized interviews and polysomnographic recording).
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PMID:Sleep disorders in aging and dementia. 2019 Dec 56

Syndromic craniosynostosis is a congenital disorder characterised by premature fusion of calvarial sutures combined with other anomalies. The facial appearance is different and patients may show physical impairment, mental or developmental disabilities, elevated intracranial pressure and obstructive sleep apnoea. The impact of this condition on daily functioning has not been studied before. The aim of this study is to assess the health-related quality of life in children and adolescents with syndromic or complex craniosynostosis and to determine the impact of these syndromes on parents. A prospective study was performed in 111 children. Health-related quality of life was measured by international standardised quality-of-life questionnaires, the Infant Toddler Quality of Life Questionnaire (ITQoL), Child Health Questionnaire Parental Form 50 (CHQ-PF50), Child Health Questionnaire Child Form 87 (CHQ-CF87) and Short-Form Health Survey (SF-36). For comparison, we used Dutch population norms of health-related quality-of-life-scores. Parents' scores for patients with syndromic or complex craniosynostosis were significantly lower than those for the norm population. Apert syndrome had the largest impact on the different domains. Scores on the CHQ-PF50 scales for 'physical functioning', 'parental impact emotional' and 'family activities' for these patients were significantly lower than scores for patients with other syndromes, possibly due to the complexity of the syndrome, which includes complex syndactyly, cognitive impairment and behaviour problems. Parents reported a reduced health-related quality of life for themselves, mostly psychosocial with clearly significantly lower general health perceptions. In conclusion, syndromic craniosynostosis has a large impact on the health-related quality of life of these children and their parents, both physical and psychosocial.
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PMID:Health-related quality of life in children and adolescents with syndromic craniosynostosis. 2022 16

Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1.04), memory (z-score = -0.65), constructions (z-score = -1.29), and reasoning (z-score = -0.75) being slightly affected. Moderate-severe sleep apnea (apnea-hypopnea index [AHI] > or =15) was very frequent with most of the apneas being of the obstructive type. However, we found hardly any evidence of association between subjective, objective sleep parameters, and nps performance (p > .001). Thus, in our cohort of 23 adult MD1 patients, mild cognitive dysfunction, which is mostly related to the dysfunction of frontal association cortex and its underlying neural networks, does not seem to be significantly influenced by sleep disruption, which is mainly caused by obstructive apnea events.
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PMID:Toward understanding cognitive impairment in patients with myotonic dystrophy type 1. 2023 49

Obstructive sleep apnea (OSA) is increasingly recognized in older persons as an important cause of morbidity and mortality, resulting in cardiovascular disease, cognitive dysfunction, and disturbed sleep. It has been cited as an independent risk factor for the metabolic syndrome (MS). The elevated levels of cytokines, such as interleukin-6 and tumor necrosis factor-alpha, which also increase with age, are a common feature of both OSA and MS. Intermittent hypoxia caused by the recurring episodes of apnea and near-apnea in OSA is a major cause of its systemic effects. Mathematical models of OSA show how obesity and anatomic changes in the upper airways, which may be age-related, interact with the networks responsible for the chemical and neural control of breathing to cause the recurrent intermittent hypoxia of sleep apnea. Treatment of OSA with continuous positive airway pressure improves some aspects of the metabolic syndrome, reduces cardiovascular morbidity, and improves domains of cognitive function. OSA is more difficult to identify in the elderly because many of its symptoms can be caused by other disorders which are common in the elderly. Clinicians who encounter OSA may be advised to search for the presence of MS, and vice versa.
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PMID:Obstructive sleep apnea, metabolic syndrome, and age: will geriatricians be caught asleep on the job? 2030 62

Cyclic alternating pattern (CAP) has now been studied in different age groups of normal infants and children, and it is clear that it shows dramatic changes with age. In this review we first focus on the important age-related changes of CAP from birth to peripubertal age and, subsequently, we describe the numerous studies on CAP in developmental clinical conditions such as pediatric sleep disordered breathing, disorders of arousal (sleep walking and sleep terror), pediatric narcolepsy, learning disabilities with mental retardation (fragile-X syndrome, Down syndrome, autistic spectrum disorder, Prader-Willi syndrome) or without (dyslexia, Asperger syndrome, attention-deficit/hyperactivity disorder). CAP rate is almost always decreased in these conditions with the exception of the disorders of arousal and some cases of sleep apnea. Another constant result is the reduction of A1 subtypes, probably in relationship with the degree of cognitive impairment. The analysis of CAP in pediatric sleep allows a better understanding of the underlying neurophysiological mechanisms of sleep disturbance. CAP can be considered as a window into pediatric sleep, allowing a new vision on how the sleeping brain is influenced by a specific pathology or how sleep protecting mechanisms try to counteract internal or external disturbing events.
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PMID:Cyclic alternating pattern: A window into pediatric sleep. 2042 35

Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder in the Western world and the incidence of the disease is constantly increasing. Most patients with NAFLD do not present with symptoms directly attributable to their underlying liver disease. It is increasingly recognized, however, that those with NAFLD describe a range of non-specific symptoms, which include fatigue and daytime sleepiness, may be the presenting problem and can impact dramatically upon quality of life in this patient group. The recognition of systemic symptoms in NAFLD has important implications for patients as many are potentially modifiable with targeted interventions. Fatigue appears to be a significant problem in NAFLD and the severity of fatigue is not associated with severity of NAFLD or any parameters of liver damage. Instead, fatigue in these patients shows a strong relationship with the symptom of daytime sleepiness and autonomic dysfunction. Daytime sleepiness can frequently be associated with obstructive sleep apnoea in those with NAFLD and is therefore treatable with evidence-based interventions. Recent studies have confirmed the presence of autonomic nervous system dysfunction in those with early stages of NAFLD. The presence of autonomic nervous system dysfunction leads to symptoms such as postural dizziness and syncope and is also associated with a number of clinical consequences in hepatic and non-hepatic diseases such as cognitive dysfunction, falls and fall-related injuries. On direct questioning, problems with memory and concentration are frequently described by those with NAFLD, with our studies confirming that 50% of NAFLD patients experience mild cognitive symptoms and up to 46% moderate or severe cognitive impairment. There were no positive correlations between cognitive symptoms and biochemical or histological markers of liver damage severity, confirming that cognitive impairment in early-stage NAFLD is not related to hepatic encephalopathy. Falls are also considered a direct consequence of autonomic nervous system dysfunction, and our work suggests that a history of falls is common in NAFLD (43%). The proportion of recurrent fallers is significantly higher in a NAFLD cohort compared to controls (p = 0.001), with injuries (p = 0.009), emergency medical attention (p < 0.001), fracture rates (p < 0.001) and hospital admission (p < 0.001) all significantly more common in the NAFLD group. Falls and the aforementioned associations were unrelated to the presence of diabetes or the severity of liver disease. A range of systemic symptoms appear to affect those with NAFLD, the severity of which is unrelated to the underlying liver disease severity. The presence of autonomic dysfunction may provide a unifying mechanism for these symptoms and a therapeutic target. Consideration of these symptoms affecting patients with NAFLD and, where possible, effective treatment will lead to improvements in quality of life and enhance the ability of those with NAFLD to function in their daily lives.
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PMID:Systemic symptoms in non-alcoholic fatty liver disease. 2046 Sep 14

The daily rhythm of cortisol secretion is relatively stable and primarily under the influence of the circadian clock. Nevertheless, several other factors affect hypothalamo-pituitary-adrenal (HPA) axis activity. Sleep has modest but clearly detectable modulatory effects on HPA axis activity. Sleep onset exerts an inhibitory effect on cortisol secretion while awakenings and sleep offset are accompanied by cortisol stimulation. During waking, an association between cortisol secretory bursts and indices of central arousal has also been detected. Abrupt shifts of the sleep period induce a profound disruption in the daily cortisol rhythm, while sleep deprivation and/or reduced sleep quality seem to result in a modest but functionally important activation of the axis. HPA hyperactivity is clearly associated with metabolic, cognitive and psychiatric disorders and could be involved in the well-documented associations between sleep disturbances and the risk of obesity, diabetes and cognitive dysfunction. Several clinical syndromes, such as insomnia, depression, Cushing's syndrome, sleep disordered breathing (SDB) display HPA hyperactivity, disturbed sleep, psychiatric and metabolic impairments. Further research to delineate the functional links between sleep and HPA axis activity is needed to fully understand the pathophysiology of these syndromes and to develop adequate strategies of prevention and treatment.
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PMID:Impact of sleep and its disturbances on hypothalamo-pituitary-adrenal axis activity. 2062 23


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