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Narcolepsy among first- and second-generation immigrants in Sweden: A study of the total population.Acta Neurologica Scandinavica Aug 2022To study incident narcolepsy in first- and second-generation immigrant groups using Swedish-born individuals and native Swedes as referents.
AIMS
To study incident narcolepsy in first- and second-generation immigrant groups using Swedish-born individuals and native Swedes as referents.
METHODS
The study population included all individuals registered and alive in Sweden at baseline. Narcolepsy was defined as having at least one registered diagnosis of narcolepsy in the Swedish National Patient Register. The incidence of narcolepsy in different immigrant groups was assessed by Cox regression, with hazard ratios (HRs) and 95% confidence intervals (CI). The models were stratified by sex and adjusted for age, geographical residence in Sweden, educational level, marital status, co-morbidities, and neighbourhood socioeconomic status.
RESULTS
In the first-generation study, 1225 narcolepsy cases were found; 465 males and 760 females, and in the second-generation study, 1710 cases, 702 males and 1008 females. Fully adjusted HRs (95% CI) in the first-generation study was for males 0.83 (0.61-1.13) and females 0.83 (0.64-1.07), and in the second-generation study for males 0.76 (0.60-0.95) and females 0.91 (95% CI 0.76-1.09). Statistically significant excess risks of narcolepsy were found in first-generation males from North America, and second-generation males with parents from North America, and second-generation females with parents from Latin America.
CONCLUSIONS
There were only significant differences in incident narcolepsy between native Swedes and second-generation male immigrants. The observed differences can partly be explained by differences in Pandemrix® vaccinations and are probably not attributable to genetic differences between immigrants and natives.
Topics: Emigrants and Immigrants; Female; Humans; Incidence; Male; Narcolepsy; Proportional Hazards Models; Sweden
PubMed: 35543223
DOI: 10.1111/ane.13633 -
Frontiers in Endocrinology 2023Narcolepsy Type 1 (NT1) is a rare hypersomnia of central origin linked to hypocretin deficiency, most frequently arising at pediatric age. NT1 could be associated with...
INTRODUCTION
Narcolepsy Type 1 (NT1) is a rare hypersomnia of central origin linked to hypocretin deficiency, most frequently arising at pediatric age. NT1 could be associated with endocrine comorbidities involving the neuroendocrine axis, predominantly obesity, and Central Precocious Puberty (CPP). The primary aim of this study is the evaluation of endocrine and auxological parameters at diagnosis and during follow-up in patients with NT1, treated with Sodium Oxybate (SO) or not.
METHODS
We retrospectively evaluated the auxological, biochemical, and radiological parameters of 112 patients referred to our Center between 2004-2022. The design of our study is cross-sectional at the time of diagnosis followed by a longitudinal follow-up.
RESULTS
Our study confirms an increased frequency of CPP and obesity in patients with NT1. At first evaluation, obesity was found in 31.3% of patients, while overweight was found in 25.0%. A diagnosis of CPP was made in 19.6% of patients. Interestingly, this group showed a significantly lower level of CSF-hypocretin (hrct-1) at diagnosis compared to others. We found an improvement in BMI SDS in the SO-treated group compared to untreated patients, and this trend persisted also at 36 months of follow-up (0.0 ± 1.3 vs 1.3 ± 0.4; p<0.03). Sixty-three patients reached their final height, with a median SDS of 0.6 ± 1.1 in boys and 0.2 ± 1.2 in girls.
DISCUSSION
To our knowledge, these are the first results regarding the final height in a large series of pediatric patients with NT1, with a normal range of IGF1-SDS levels and stature SDS.
Topics: Male; Female; Humans; Child; Orexins; Retrospective Studies; Follow-Up Studies; Cross-Sectional Studies; Narcolepsy; Obesity; Sodium Oxybate
PubMed: 37396177
DOI: 10.3389/fendo.2023.1037398 -
Cureus Oct 2023Immune thrombocytopenia (ITP) is a rare chronic disease, frequently accompanied by fatigue, which is an important comorbidity associated with this disease. Patients...
Identification of an Unmet Medical Need: Height of Depression, Hypersomnia, and Sleep Apnea Positively Correlate With the Level of Fatigue in Patients With Immune Thrombocytopenia.
INTRODUCTION
Immune thrombocytopenia (ITP) is a rare chronic disease, frequently accompanied by fatigue, which is an important comorbidity associated with this disease. Patients experience difficulties in managing their daily activities and a reduction in their overall quality of life (QoL). The causes of fatigue in ITP are not clarified yet, and underlying causes seem to be multifactorial. The development of fatigue may not solely be influenced by a decrease in platelet count but also by unknown factors as well as psychological reasons.
METHODS
This prospective, multicenter, exploratory, pilot study aimed to investigate which parameters contribute to the occurrence of fatigue in patients with ITP. Adult patients with ITP and with or without fatigue who visited the study center for their regular appointments were asked to complete questionnaires pertaining to patient-reported outcome measures regarding bleeding symptoms, depression, sleep apnea, and hypersomnia. Blood tests included platelet count as well as different parameters like vitamin D.
RESULTS
A total of 36 patients (100%; 27 females (75%) and nine males (25%)) with primary ITP, with a median age of 46.5 years (range 19‑83 years) were analyzed. The median duration of ITP was 4.5 years (min‑max 0-21). Approximately one-third of patients (29.4%; 10/34 patients) had no comorbidities. The two most frequently used current treatment options were "watch-and-wait" (38.9%; 14/36 patients) and "avatrombopag" (30.6%; 11/36 patients); eight patients (22.2%; 8/36 patients) needed rescue therapy with corticosteroids. There was a statistically negative correlation between fatigue and year of diagnosis (r=-0.41, p=0.014). Results indicated no statistically significant relationship between fatigue and age or differences in fatigue between the genders. Ferritin predicted fatigue with statistical significance. Platelet count was not correlated with the level of fatigue. A significant correlation was obvious between fatigue, depression, and obstructive sleep apnea syndrome (OSAS) as well as sleep-related problems (p<0.01).
DISCUSSION
Patient characteristics were comparable to that of other studies. The level of fatigue negatively impacts the lives of patients with ITP. Age and gender were not correlated with fatigue in ITP, which is in line with other reports. Interestingly, the fatigue level was higher in patients presenting with additional depression and poor sleeping quality due to, e.g., hypersomnia, which seems common. Fatigue levels seem independent from thrombocyte levels, which were reported elsewhere.
CONCLUSION
Patients diagnosed with ITP several years ago cope with their condition better than patients with a more recent diagnosis, who have higher levels of fatigue. Concurrent depression, hypersomnia, and sleep apnea are important underestimated factors, which do have a negative effect on the QoL of patients with ITP. We were able to show that patients with ITP might face an unmet medical need in terms of delayed diagnosis and supportive therapy. To our knowledge, this is the first report on combined findings of depression, hypersomnia, and sleep apnea in patients with ITP.
PubMed: 37965409
DOI: 10.7759/cureus.47003 -
Acta Clinica Croatica Dec 2022To our knowledge, there is no study investigating whether fatigue and depression as the most commonly reported symptoms in multiple sclerosis (MS) and obstructive sleep...
To our knowledge, there is no study investigating whether fatigue and depression as the most commonly reported symptoms in multiple sclerosis (MS) and obstructive sleep apnea (OSA) patients have arisen from primary mechanisms of MS or from secondary associated conditions such as OSA in MS patients. The aim of our survey study was to determine whether depression and fatigue in MS patients were associated with clinical features of OSA or with MS. We conducted a self-administered survey using four validated questionnaires (STOP-BANG, Epworth Sleepiness Scale, Fatigue Severity Scale and The Center for Epidemiologic Studies Depression Scale-Revised) in 28 consecutive outpatients with proven MS. The prevalence of MS patients at an increased risk of OSA was 29% and age was positively correlated with this risk (p=0.019). None of the clinical features of MS patients (subtype, disability status, disease duration, modifying therapy, other medication) was correlated with depression and fatigue. On the contrary, excessive daytime sleepiness as a hallmark of OSA was significantly and positively associated with the level of depressive symptoms (p=0.004) and level of fatigue (p=0.015). Also, depression was significantly and positively correlated with the increased risk of OSA (p=0.015) and age of MS patients (p=0.016). Finally, a significant positive correlation was found between fatigue severity and level of depressive symptoms (p=0.003). OSA is a common disorder in MS patients. The clinical features and risk factors for OSA in MS patients are associated with the two most commonly reported symptoms of depression and fatigue, thus supporting the hypothesis that both symptoms are due to a secondary condition in MS.
Topics: Humans; Depression; Multiple Sclerosis; Sleep Apnea, Obstructive; Fatigue; Disorders of Excessive Somnolence; Surveys and Questionnaires
PubMed: 37868167
DOI: 10.20471/acc.2022.61.04.05 -
Sleep Medicine Dec 2023Excessive daytime sleepiness is common with obstructive sleep apnoea and can persist despite efforts to optimise primary airway therapy. The literature lacks... (Review)
Review
STUDY OBJECTIVE
Excessive daytime sleepiness is common with obstructive sleep apnoea and can persist despite efforts to optimise primary airway therapy. The literature lacks recommendations regarding differential diagnosis and management of excessive daytime sleepiness in obstructive sleep apnoea. This study sought to develop expert consensus statements to bridge the gap between existing literature/guidelines and clinical practice.
METHODS
A panel of 10 international experts was convened to undertake a modified Delphi process. Statements were developed based on available evidence identified through a scoping literature review, and expert opinion. Consensus was achieved through 3 rounds of iterative, blinded survey voting and revision to statements until a predetermined level of agreement was met (≥80 % voting "strongly agree" or "agree with reservation").
RESULTS
Consensus was achieved for 32 final statements. The panel agreed excessive daytime sleepiness is a patient-reported symptom. The importance of subjective/objective evaluation of excessive daytime sleepiness in the initial evaluation and serial management of obstructive sleep apnoea was recognised. The differential diagnosis of residual excessive daytime sleepiness in obstructive sleep apnoea was discussed. Optimizing airway therapy (eg, troubleshooting issues affecting effectiveness) was addressed. The panel recognised occurrence of residual excessive daytime sleepiness in obstructive sleep apnoea despite optimal airway therapy and the need to evaluate patients for underlying causes.
CONCLUSIONS
Excessive daytime sleepiness in patients with obstructive sleep apnoea is a public health issue requiring increased awareness, recognition, and attention. Implementation of these statements may improve patient care, long-term management, and clinical outcomes in patients with obstructive sleep apnoea.
Topics: Humans; Delphi Technique; Sleep Apnea, Obstructive; Disorders of Excessive Somnolence; Continuous Positive Airway Pressure; Surveys and Questionnaires
PubMed: 37839271
DOI: 10.1016/j.sleep.2023.10.001 -
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 -
British Journal of Cancer Aug 2023We sought to assess the influences of sleep duration, sleep adequacy, and daytime sleepiness on survival outcomes among Stage III colon cancer patients. (Observational Study)
Observational Study Randomized Controlled Trial
BACKGROUND
We sought to assess the influences of sleep duration, sleep adequacy, and daytime sleepiness on survival outcomes among Stage III colon cancer patients.
METHODS
We conducted a prospective observational study of 1175 Stage III colon cancer patients enrolled in the CALGB/SWOG 80702 randomised adjuvant chemotherapy trial who completed a self-reported questionnaire on dietary and lifestyle habits 14-16 months post-randomisation. The primary endpoint was disease-free survival (DFS), and secondary was overall survival (OS). Multivariate analyses were adjusted for baseline sociodemographic, clinical, dietary and lifestyle factors.
RESULTS
Patients sleeping ≥9 h-relative to 7 h-experienced a worse hazard ratio (HR) of 1.62 (95% confidence interval (CI), 1.01-2.58) for DFS. In addition, those sleeping the least (≤5 h) or the most (≥ 9 h) experienced worse HRs for OS of 2.14 (95% CI, 1.14-4.03) and 2.34 (95% CI, 1.26-4.33), respectively. Self-reported sleep adequacy and daytime sleepiness showed no significant correlations with outcomes.
CONCLUSIONS
Among resected Stage III colon cancer patients who received uniform treatment and follow-up within a nationwide randomised clinical trial, very long and very short sleep durations were significantly associated with increased mortality. Interventions targeting optimising sleep health among indicated colon cancer patients may be an important method by which more comprehensive care can be delivered.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT01150045.
Topics: Colonic Neoplasms; Antineoplastic Combined Chemotherapy Protocols; Chemotherapy, Adjuvant; Neoplasm Recurrence, Local; Neoplasm Staging; Disease-Free Survival; Humans; Sleep Quality; Disorders of Excessive Somnolence; Prospective Studies; Male; Female; Adult; Middle Aged; Aged
PubMed: 37179438
DOI: 10.1038/s41416-023-02290-2 -
Brain Communications 2021In this study, we report the clinical features of Kelch-like protein 11 antibody-associated paraneoplastic neurological syndrome, design and validate a clinical score to...
In this study, we report the clinical features of Kelch-like protein 11 antibody-associated paraneoplastic neurological syndrome, design and validate a clinical score to facilitate the identification of patients that should be tested for Kelch-like protein 11 antibodies, and examine in detail the nature of the immune response in both the brain and the tumour samples for a better characterization of the immunopathogenesis of this condition. The presence of Kelch-like protein 11 antibodies was retrospectively assessed in patients referred to the French Reference Center for paraneoplastic neurological syndrome and autoimmune encephalitis with (i) antibody-negative paraneoplastic neurological syndrome [limbic encephalitis ( = 105), cerebellar degeneration ( = 33)] and (ii) antibody-positive paraneoplastic neurological syndrome [Ma2-Ab encephalitis ( = 34), antibodies targeting N-methyl-D-aspartate receptor encephalitis with teratoma ( = 49)]. Additionally, since 1 January 2020, patients were prospectively screened for Kelch-like protein 11 antibodies as new usual clinical practice. Overall, Kelch-like protein 11 antibodies were detected in 11 patients [11/11, 100% were male; their median (range) age was 44 (35-79) years], 9 of them from the antibody-negative paraneoplastic neurological syndrome cohort, 1 from the antibody-positive (Ma2-Ab) cohort and 1 additional prospectively detected patient. All patients manifested a cerebellar syndrome, either isolated (4/11, 36%) or part of a multi-system neurological disorder (7/11, 64%). Additional core syndromes were limbic encephalitis (5/11, 45%) and myelitis (2/11, 18%). Severe weight loss (7/11, 64%) and hearing loss/tinnitus (5/11, 45%) were common. Rarer neurologic manifestations included hypersomnia and seizures (2/11, 18%). Two patients presented phenotypes resembling primary neurodegenerative disorders (progressive supranuclear palsy and flail arm syndrome, respectively). An associated cancer was found in 9/11 (82%) patients; it was most commonly (7/9, 78%) a spontaneously regressed ('burned-out') testicular germ cell tumour. A newly designed clinical score (MATCH score: male, ataxia, testicular cancer, hearing alterations) with a cut-off ≥4 successfully identified patients with Kelch-like protein 11 antibodies (sensitivity 78%, specificity 99%). Pathological findings (three testicular tumours, three lymph node metastases of testicular tumours, one brain biopsy) showed the presence of a T-cell inflammation with resulting anti-tumour immunity in the testis and one chronic, exhausted immune response-demonstrated by immune checkpoint expression-in the metastases and the brain. In conclusion, these findings suggest that Kelch-like protein 11 antibody paraneoplastic neurological syndrome is a homogeneous clinical syndrome and its detection can be facilitated using the MATCH score. The pathogenesis is probably T-cell mediated, but the stages of inflammation are different in the testis, metastases and the brain.
PubMed: 34557666
DOI: 10.1093/braincomms/fcab185 -
Eye (London, England) Jun 2023To investigate the sleep quality in children with allergic conjunctivitis (AC) and their parents.
OBJECTIVES
To investigate the sleep quality in children with allergic conjunctivitis (AC) and their parents.
METHODS
Prospective, case-controlled study. Zhongshan Ophthalmic Center, a tertiary referral centre. Participants comprised 73 children aged 4-12 years with AC and their parents, and 81 healthy, age-matched children who served as controls and their parents. General information was recorded and ocular manifestations of children with AC were scored. Sleep quality of the children and parents were assessed using Children's Sleep Habits Questionnaire (CSHQ) and Pittsburgh Sleep Quality Index (PSQI).
RESULTS
Children with AC and their parents had reduced sleep quality (Children's CSHQ: 48.3 ± 6.55 vs. 38.8 ± 4.63; Parental PSQI: 5.62 ± 2.12 vs. 3.40 ± 1.90, both p < 0.001) and significantly higher prevalence of poor sleep quality (CSHQ ≥ 41 in Children: 89.0% vs. 23.5%; PSQI > 7 in Parents: 18.5% vs. 1.23%, both p < 0.001). Children with AC scored worse on subcomponents of CSHQ including sleep onset delay, sleep duration, parasomnia, sleep-disordered breathing, and daytime sleepiness. Parents scored worse on subscores of PSQI including sleep duration, sleep disturbances, use of sleeping medication, and daytime sleepiness. Poor sleep quality in children with AC was associated with follicle formation (OR:3.95; 95% CI: 1.88-8.31, p < 0.001) and keratitis (OR:6.03; 95% CI: 1.29-28.3, p = 0.028). Parental poor sleep quality was associated with follicle formation (OR:7.14; 95% CI: 2.06-24.8, p = 0.002) and keratitis (OR:4.49; 95% CI: 1.27-15.9, p = 0.020) in children.
CONCLUSIONS
AC has a negative association with sleep quality in children and their parents, especially in those children with severe follicle formation and keratitis.
STATE THE DETAILS OF CLINICAL TRIALS
Chictr.org.cn, https://www.chictr.org.cn/showproj.aspx?proj=43511 , ChiCTR1900027486.
STATEMENT OF SIGNIFICANCE
Allergic conjunctivitis is a frequently encountered problem diagnosed and managed by ophthalmologists, paediatricians, allergists, and primary care physicians and has become a major public health issue. Sleep is crucial for learning and effective development in children. Our study discovered a strong association between these two conditions. This is the first study to evaluate the association of allergic conjunctivitis and sleep quality in children and their parents. This case-controlled study found that allergic conjunctivitis had a negative impact on sleep quality not only for children but also for their parents. The findings of this study suggest a multifaceted impact of AC with sleep quality; detailed assessment of sleep quality for improved care of paediatric patients with allergic conjunctivitis would be useful.
Topics: Humans; Child; Sleep Quality; Conjunctivitis, Allergic; Prospective Studies; Sleep; Surveys and Questionnaires; Sleep Wake Disorders; Parents; Disorders of Excessive Somnolence
PubMed: 35869391
DOI: 10.1038/s41433-022-02182-4 -
Journal of Sleep Research Oct 2021Narcolepsy type 1 (NT1) is a disorder with well-established markers and a suspected autoimmune aetiology. Conversely, the narcoleptic borderland (NBL) disorders,...
Narcolepsy type 1 (NT1) is a disorder with well-established markers and a suspected autoimmune aetiology. Conversely, the narcoleptic borderland (NBL) disorders, including narcolepsy type 2, idiopathic hypersomnia, insufficient sleep syndrome and hypersomnia associated with a psychiatric disorder, lack well-defined markers and remain controversial in terms of aetiology, diagnosis and management. The Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a comprehensive multicentre cohort study, which will investigate the clinical picture, pathophysiology and long-term course of NT1 and the NBL. The primary aim is to validate new and reappraise well-known markers for the characterization of the NBL, facilitating the diagnostic process. Seven Swiss sleep centres, belonging to the Swiss Narcolepsy Network (SNaNe), joined the study and will prospectively enrol over 500 patients with recent onset of excessive daytime sleepiness (EDS), hypersomnia or a suspected central disorder of hypersomnolence (CDH) during a 3-year recruitment phase. Healthy controls and patients with EDS due to severe sleep-disordered breathing, improving after therapy, will represent two control groups of over 50 patients each. Clinical and electrophysiological (polysomnography, multiple sleep latency test, maintenance of wakefulness test) information, and information on psychomotor vigilance and a sustained attention to response task, actigraphy and wearable devices (long-term monitoring), and responses to questionnaires will be collected at baseline and after 6, 12, 24 and 36 months. Potential disease markers will be searched for in blood, cerebrospinal fluid and stool. Analyses will include quantitative hypocretin measurements, proteomics/peptidomics, and immunological, genetic and microbiota studies. SPHYNCS will increase our understanding of CDH and the relationship between NT1 and the NBL. The identification of new disease markers is expected to lead to better and earlier diagnosis, better prognosis and personalized management of CDH.
Topics: Cohort Studies; Disorders of Excessive Somnolence; Humans; Multicenter Studies as Topic; Narcolepsy; Observational Studies as Topic; Prospective Studies; Switzerland
PubMed: 33813771
DOI: 10.1111/jsr.13296