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Neurology May 2022Narcolepsy and idiopathic hypersomnia usually begin in early adolescence, but diagnostic delays ranging from 5 to 10 years are common, affecting disease burden. To...
BACKGROUND AND OBJECTIVES
Narcolepsy and idiopathic hypersomnia usually begin in early adolescence, but diagnostic delays ranging from 5 to 10 years are common, affecting disease burden. To improve early identification of these treatable conditions, we developed and validated the Pediatric Hypersomnolence Survey (PHS).
METHODS
Content was developed through literature review, patient focus groups, interviews with experts in the field, and field testing. We then validated the 14-item self-reported survey across 3 hospitals and web recruitment from patient groups. In the validation phase, we recruited a total of 331 participants (patients with narcolepsy type 1 [n = 64], narcolepsy type 2 [n = 34], idiopathic hypersomnia [n = 36], and other sleep disorders [n = 97] and healthy controls [n = 100], ages 8-18 years) to complete the survey. We assessed a range of psychometric properties, including discriminant diagnostic validity for CNS disorders of hypersomnolence using receiver operating characteristic curve analysis and reliability across a 1-week period.
RESULTS
Confirmatory factor analysis indicated a 4-domain solution with good reliability expressed by satisfactory omega values. Across groups, the PHS total score showed appropriate positive correlations with other validated surveys of sleepiness ( = 0.65-0.78, < 0.001) and negative correlations with multiple sleep latency test measures (mean sleep latency: = -0.27, = 0.006; number of sleep-onset REM periods: = 0.26, = 0.007). Compared to controls and patients with other sleep disorders, the area under the curve for participants with narcolepsy or idiopathic hypersomnia was 0.87 (standard error 0.02, 95% CI 0.83-0.91) with high sensitivity (81.3, 95% CI 73.7%-87.5%) and specificity (81.2%, 95 CI 75.1%-86.4%). Test-retest reliability was = 0.87.
DISCUSSION
The PHS is a valid and reliable tool for clinicians to identify pediatric patients with narcolepsy and idiopathic hypersomnia. Implemented in clinical practice, the PHS will potentially decrease diagnostic delays and time to treatment, ultimately reducing disease burden for these debilitating conditions.
CLASSIFICATION OF EVIDENCE
This study provides Class III evidence that the PHS accurately identifies patients with central disorders of hypersomnolence.
Topics: Adolescent; Child; Disorders of Excessive Somnolence; Humans; Idiopathic Hypersomnia; Narcolepsy; Reproducibility of Results; Sleep Latency
PubMed: 35314496
DOI: 10.1212/WNL.0000000000200187 -
Anatolian Journal of Cardiology Jul 2023
Topics: Humans; Sleep Apnea, Obstructive; Polysomnography
PubMed: 37366059
DOI: 10.14744/AnatolJCardiol.2023.7 -
Revue Medicale de Liege Feb 2014Diagnostic criteria and pathophysiology of narcolepsy-cataplexy have evolved considerably over the last 10 years. The main cause, already mentioned in a previous paper,...
Diagnostic criteria and pathophysiology of narcolepsy-cataplexy have evolved considerably over the last 10 years. The main cause, already mentioned in a previous paper, in the Revue Médicale de Liège (65), in 2002, is based, in human beings, on a destruction of specific cells located in the lateral and posterior part of the hypothalamus (the perifornical nuclei, containing some 70,000 neurons), producing peptides which stimulate the central nervous system; they are called hypocretins or orexins. The role of autoimmunity in their disappearance becomes more evident. The treatment is simplified, but remains symptomatic. It is mainly based on Sodium Oxybate or Gamma-Hydroxybutyrate, syrup, prescribed for the night. The authors report on their own experience in this regard and on future therapeutics more targeted towards the cause of the disease.
Topics: Diagnosis, Differential; Humans; Narcolepsy
PubMed: 24683827
DOI: No ID Found -
The Journal of Clinical Psychiatry Oct 2015Excessive daytime sleepiness (EDS) is a common and bothersome phenomenon. It can be associated with insufficient sleep syndrome, narcolepsy, idiopathic hypersomnia,... (Review)
Review
Excessive daytime sleepiness (EDS) is a common and bothersome phenomenon. It can be associated with insufficient sleep syndrome, narcolepsy, idiopathic hypersomnia, obstructive sleep apnea, shift work disorder, Kleine-Levin syndrome, or Parkinson's disease. Once the underlying cause of the excessive sleepiness is determined, clinicians must select the most appropriate behavioral and pharmacologic interventions to reduce daytime sleepiness, alleviate other symptoms, improve functioning, and ensure the safety of patients and those around them. Patient history, adverse effects, and efficacy in specific conditions should be considered in pharmacologic treatment options for patients with EDS.
Topics: Disorders of Excessive Somnolence; Humans; Narcolepsy
PubMed: 26528660
DOI: 10.4088/JCP.14019tx3c -
The American Journal of Medicine Jan 2015This is a “patient-centered” review about narcolepsy that aims to awaken the reader to the narcolepsy condition and to the trials and tribulations of patients with...
This is a “patient-centered” review about narcolepsy that aims to awaken the reader to the narcolepsy condition and to the trials and tribulations of patients with sleep problems in general. Narcolepsy is a neurological disorder with a classic tetrad of symptoms consisting of excessive daytime sleepiness, cataplexy, sleep onset hallucinations, and sleep paralysis. The diagnosis of narcolepsy and other sleep disorders are often overlooked and could be attributed to other medical or even psychiatric conditions with years of missed diagnosis. Implementation of “two sleep-related questions” to the review of systems in the primary care physicians’ office visit may help address the issue of missed diagnosis and allow patients to seek prompt medical attention. Definitive diagnosis can be made by overnight sleep study followed by a nap test, “multiple sleep latency test” (MSLT). There is currently no cure for narcolepsy with the treatments addressing symptoms of excessive daytime sleepiness, cataplexy, and nighttime sleep disruption with stimulants (modafinil, methylphenidate, and amphetamines), anti-cataplexy medications (Serotonin-specific reuptake inhibitors and tricyclic antidepressants) and sedative-hypnotics including sodium oxybate. Narcolepsy, like other sleep disorders, can lead to marked reductions of health-related quality of life and affect patients’ social and work lives deleteriously. While traditional healthcare approaches are focused more on hard biomedical outcomes, a patient-centered approach with novel methods for better sleep assessment of patients, that can bypass the “impossibly crammed” physician office visit, would allow healthcare providers to better detect, diagnose and treat narcolepsy and other such sleep problems.
Topics: Female; Humans; Narcolepsy; Primary Health Care
PubMed: 24931392
DOI: 10.1016/j.amjmed.2014.05.037 -
Blood Purification 2011Sleep disorders are common and underrecognized in patients at all stages of chronic kidney disease. They include sleep apnea, insomnia, excessive sleepiness, restless... (Review)
Review
Sleep disorders are common and underrecognized in patients at all stages of chronic kidney disease. They include sleep apnea, insomnia, excessive sleepiness, restless legs syndrome and periodic limb movement disorder. They can be related to underlying uremia or comorbidities. Sleep disorders can affect the quality of life, and some are associated with increased morbidity and mortality. Clinical assessment, polysomnography and other standardized assessments are required for diagnosis. Therapeutic approaches include improvement in uremia management, treatment of comorbidities or specific interventions directed at individual sleep disorders. Diagnosis and treatment of sleep disorders in this population may improve quality of life and patient survival.
Topics: Humans; Nocturnal Myoclonus Syndrome; Renal Insufficiency, Chronic; Restless Legs Syndrome; Sleep Apnea Syndromes; Sleep Initiation and Maintenance Disorders; Sleep Wake Disorders
PubMed: 21228583
DOI: 10.1159/000321859 -
Sleep Medicine Clinics Dec 2022Although data are limited, studies suggest on average lower positive airway pressure use in Black, indigenous, and people of color (BIPOC) compared with Whites in most... (Review)
Review
Although data are limited, studies suggest on average lower positive airway pressure use in Black, indigenous, and people of color (BIPOC) compared with Whites in most but not all studies. Most of these observational studies are certainly limited by confounding by socioeconomic status and other unmeasured factors that likely contribute to differences. The etiology of these observed disparities is likely multifactorial, due in part to financial limitations, differences in sleep opportunity, poor sleep quality due to environmental disruptions, and so forth. These disparities in sleep health are likely related to chronic inequities, including experiences of racism, neighborhood features, structural, and contextual factors. Dedicated studies focusing on understanding adherence in BIPOC are lacking. Further research is needed to understand determinants of PAP use in BIPOC subjects and identify feasible interventions to improve sleep health and reduce sleep apnea treatment disparities.
Topics: Humans; Continuous Positive Airway Pressure; Sleep Apnea, Obstructive; Race Factors; Sleep Apnea Syndromes; Sleep Initiation and Maintenance Disorders; Patient Compliance
PubMed: 36333073
DOI: 10.1016/j.jsmc.2022.07.002 -
The Journal of Clinical Psychiatry 2018 Insomnia is a common feature of many psychiatric disorders but can also be a comorbid disorder, often contributing to poor outcomes and treatment failure. For... (Review)
Review
Insomnia is a common feature of many psychiatric disorders but can also be a comorbid disorder, often contributing to poor outcomes and treatment failure. For some patients who do respond to psychiatric treatment, their insomnia persists after their mood symptoms have remitted, indicating that their insomnia needs to be a separate focus of treatment. In this CME Academic Highlights, Drs Ruth Benca and Daniel Buysse discuss how to effectively evaluate patients with psychiatric disorders for comorbid insomnia, as well as how to safely and effectively implement both behavioral and pharmacologic treatments. .
Topics: Comorbidity; Humans; Mental Disorders; Sleep Initiation and Maintenance Disorders
PubMed: 29370483
DOI: 10.4088/JCP.me17008ah1c -
The Medical Clinics of North America May 2010Breathing disorders during sleep are common in congestive heart failure (CHF). Sleep-disordered breathing (SDB) in CHF can be broadly classified as 2 types: central... (Review)
Review
Breathing disorders during sleep are common in congestive heart failure (CHF). Sleep-disordered breathing (SDB) in CHF can be broadly classified as 2 types: central sleep apnea with Cheyne-Stokes breathing, and obstructive sleep apnea. Prevalence of SDB ranges from 47% to 76% in systolic CHF. Treatment of SDB in CHF may include optimization of CHF treatment, positive airway pressure therapy, and other measures such as theophylline, acetazolamide, and cardiac resynchronization therapy. Periodic limb movements are also common in CHF.
Topics: Heart Failure; Humans; Nocturnal Myoclonus Syndrome; Polysomnography; Prevalence; Sleep Apnea Syndromes; Sleep Apnea, Central; Sleep Apnea, Obstructive
PubMed: 20451026
DOI: 10.1016/j.mcna.2010.02.009 -
CMAJ : Canadian Medical Association... Mar 1991To review the clinical features and treatment of obstructive sleep apnea (OSA). (Review)
Review
OBJECTIVE
To review the clinical features and treatment of obstructive sleep apnea (OSA).
DATA SOURCE AND SELECTION
All articles on OSA published in French and English between 1970 and 1990 and indexed in Index Medicus were reviewed. Studies addressing the epidemiologic features and clinical aspects of OSA were selected, and special emphasis was given to articles reporting the effects of treatment on morbidity and mortality rates.
MAIN RESULTS
OSA is characterized by episodes of upper airway obstruction during sleep that result in repetitive hypoxemia and sleep disruption. OSA leads to various neuropsychologic and cardiovascular complications, including daytime hypersomnolence, cognitive impairment, systemic and pulmonary hypertension and cardiac arrhythmias. There is suggestive evidence that the death rate among affected people is increased. The true incidence of OSA is unknown, but estimates have varied from 1% upwards among men. The current treatment with the greatest overall effectiveness and acceptability is nasal continuous positive airway pressure.
CONCLUSION
This common, readily treatable disorder is associated with serious complications and therefore must be widely recognized by health professionals.
Topics: Arrhythmias, Cardiac; Humans; Positive-Pressure Respiration; Sleep Apnea Syndromes
PubMed: 1998928
DOI: No ID Found