This study was approved by the National Institute of Child Health and Human Development Institutional Review Board. Consent and, when appropriate, assent were obtained. A clinical severity scale was developed to ascertain clinical symptoms in nine major and eight minor clinical areas (Table I ). Four of the domains (Ambulation, Fine Motor Skills, Speech, and Swallowing) were modified from the disability scale developed by Iturriaga et al [Iturriaga et al., 2006 (link)]. The scoring of each domain was designed to allow a score to be derived from a comprehensive clinical evaluation. A Likert-like scale was used to assign nine major domain scores of 0–5 and eight minor domain scores of 0–2. Clinical experience was used to weight the various scales. Summation of all 17 domains yielded total possible scores that range from 0–61, with a higher score indicating more severe clinical impairment. A comprehensive medical history form was developed to document both the clinical history of current patients and to serve as a guide in extraction of data from medical records. To be scored, seizures, cataplexy, and narcolepsy had to be definitive and not questionable. For the swallowing domain, one point was scored if the patient had a history of cough while eating. Additional points were added if the patient had intermittent or consistent dysphagia with either liquids or solids. Hearing loss refers to sensorineural hearing loss and not hearing loss secondary to conductive defects. The diagnosis of NPC was established by either biochemical testing or mutation analysis. All patients have NPC1 by either molecular or complementation group testing. Two patient groups were studied. The first group consisted of 18 NPC patients (current cohort) who were enrolled in an observational study at the National Institutes of Health Clinical Center (NIH CC) between August 2006 and September 2007 (Table II ). The second patient cohort consisted of 19 NPC patients (historical cohort) for whom we had sufficient medical records to generate at least three scores at different time points. Medical records were reviewed for 36 patients followed at the NIH CC by other investigators between 1972 and 2005. Of the 36 previous NIH CC patients with a diagnosis of NPC, 16 patients had three or more NIH admissions with adequate documentation to generate a severity score. Of the current patients, patient 1 had previous NIH admissions for which records were available and patients 13 and 15 had sufficient outside medical records from which we could derive longitudinal data.
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Narcolepsy
Narcolepsy
Narcolepsy is a chronic neurological disorder characterized by excessive daytime sleepiness, sudden and uncontrollable episodes of sleep, and other sleep disturbances.
Individuals with narcolepsy often experience cataplexy, a sudden loss of muscle tone triggered by strong emotions.
Reserch into effective treatments and protocols for narcolepsy is crucial to improve the quality of life for those affected.
PubCompare.ai can optimize your narcolepsy research by helping you locate the best protocols from literature, pre-prints, and patents.
Our AI-driven comparisons enhance reproducbility and accuracy, ensuring you find the most reliable and effective methods for your research.
Individuals with narcolepsy often experience cataplexy, a sudden loss of muscle tone triggered by strong emotions.
Reserch into effective treatments and protocols for narcolepsy is crucial to improve the quality of life for those affected.
PubCompare.ai can optimize your narcolepsy research by helping you locate the best protocols from literature, pre-prints, and patents.
Our AI-driven comparisons enhance reproducbility and accuracy, ensuring you find the most reliable and effective methods for your research.
Most cited protocols related to «Narcolepsy»
Cardiac Conduction System Disease
Cataplexy
Cough
Deglutition Disorders
Diagnosis
Disabled Persons
Ethics Committees, Research
Hearing Impairment
Motor Skills
Mutation
Narcolepsy
Niemann-Pick Disease, Type C1
Patients
Seizures
Sensorineural Hearing Loss
Speech
Adult
Diagnosis
Excessive Daytime Sleepiness
Health Personnel
Hypersomnolence, Idiopathic
Movement
Narcolepsy
Patients
Pharmaceutical Preparations
Polysomnography
Restless Legs Syndrome
Sleep
Sleep Apnea, Obstructive
Sleep Apnea Syndromes
Sleep Disorders
Sleeplessness
Snoring
Somnolence
We further examined the genes within genome-wide significant loci using gene-based pathway and tissue enrichment analyses45 (link),47 (link),69 (link). Gene-based analysis was performed using PASCAL, which estimated a combined association P value from the summary statistics of multiple SNPs in a gene45 (link). Pathway and ontology enrichment analyses were performed using FUMA69 (link) and EnrichR47 (link). Tissue enrichment analysis was performed using MAGMA46 (link) in FUMA, which controlled for gene size. Pathway and tissue enrichment analyses were also performed on genes within loci belonging to sleep propensity and sleep fragmentation clusters separately.
We constructed a weighted GRS comprising the 42 significant sleepiness loci and tested for associations with other self-reported sleep traits (sleep duration, long sleep duration, short sleep duration, insomnia, chronotype, and day naps), and 7-day accelerometry traits in the UK Biobank. Weighted GRS analyses were performed by summing the products or risk allele count multiplied by the effect estimate reported in the primary GWAS of self-reported daytime sleepiness using R package gds (https://cran.r-project.org/web/packages/gds/gds.pdf ). We also tested the GRSs of reported loci for insomnia, sleep duration, short sleep, long sleep, day naps, chronotype, restless legs syndrome (RLS), narcolepsy, and coffee consumption associated with self-reported daytime sleepiness using the same approach. The SNPs selected for each trait include 57 genome-wide significant loci for frequent insomnia49 (link); 78, 27, and 8 loci for sleep duration, long sleep, and short sleep, respectively59 (link); 348 loci for chronotype67 (link); 125 loci for daytime napping; 20 genome-wide significant loci for RLS48 (link); 8 non-HLA suggestive significant loci (P < 10−4) in a narcolepsy case–control study of European Americans51 , and 8 loci for coffee consumption50 (link).
We constructed a weighted GRS comprising the 42 significant sleepiness loci and tested for associations with other self-reported sleep traits (sleep duration, long sleep duration, short sleep duration, insomnia, chronotype, and day naps), and 7-day accelerometry traits in the UK Biobank. Weighted GRS analyses were performed by summing the products or risk allele count multiplied by the effect estimate reported in the primary GWAS of self-reported daytime sleepiness using R package gds (
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Accelerometry
Alleles
Chronotype
Coffee
Europeans
Genes
Genetic Loci
Genome
Genome-Wide Association Study
N-(4-aminophenethyl)spiroperidol
Narcolepsy
Restless Legs Syndrome
Single Nucleotide Polymorphism
Sleep
Sleep Fragmentation
Sleeplessness
Somnolence
Tissues
Narcolepsy patients were selected as described, 98% of whom are predicted to be hypocretin deficient. The initial Caucasian sample was comprised of 807 cases and 1074 controls of mixed European ancestry; 415 cases and 753 controls were recruited from the US and Canada; 392 cases and 321 controls were recruited from European centers.
The Caucasian replication sample contained 718 individuals of whom 542 were recruited from the US and Canada (259 cases, 283 controls), and 176 from Europe (104 cases 72 controls). The Asian sample included 866 Japanese (433 cases, 433 controls) and 300 Koreans (128 cases, 172 controls). Finally, 277 African Americans were studied (133 cases, 144 controls). All subjects had given written informed consent approval.
The Caucasian replication sample contained 718 individuals of whom 542 were recruited from the US and Canada (259 cases, 283 controls), and 176 from Europe (104 cases 72 controls). The Asian sample included 866 Japanese (433 cases, 433 controls) and 300 Koreans (128 cases, 172 controls). Finally, 277 African Americans were studied (133 cases, 144 controls). All subjects had given written informed consent approval.
African American
Asian Americans
DNA Replication
Europeans
HCRT protein, human
Japanese
Koreans
Narcolepsy
Patients
White Person
In order to assess the validity of our algorithm in different settings and against both data from sleep diary and polysomnography, data are drawn from three different study populations described below.
The Whitehall II cohort study12 (link): full details on data collection were previously described11 (link). Briefly, accelerometer measurement was added to the study at the 2012/2013 wave of data collection for participants seen at the central London clinic and for those living in the South-Eastern regions of England who underwent a clinical evaluation at home2 (link). Of the 4879 participants to whom the accelerometer was proposed in the Whitehall II Study, 388 did not consent and 210 had contraindications (allergies to plastic or metal, travelling abroad the following week). Of the remaining 4281 participants who wore the accelerometer, 4204 (98.2%) had valid accelerometer data (a readable data file). Among them, sleep diary data were missing for 80 participants and 29 additional participants did not meet criteria for accelerometer wear time (at least one night defined as noon-noon with >16 h of wear time). Of the remaining 4095 participants (a total of 27,966 nights) 342 did not have complete demographic data (age, BMI and sex). Therefore, the main assessment of discrepancies between the accelerometer and the sleep diary was undertaken in 3752 participants (76.9% of those invited) with a total of 25,645 nights11 (link). The resulting participants (75.2% men) were on average 69.1 (standard deviation (SD) = 5.6) years old and had a mean body mass index (BMI) of 26.4 (SD = 4.2) kg/m2.
Sleep clinic patients: these data come from 28 adult patients who were scheduled for a one-night polysomnography (PSG) assessment at the Freeman Hospital, Newcastle upon Tyne, UK, as part of their routine clinical assessment and were subsequently invited to participate in the study11 (link). All 28 patients recruited for the polysomnography study (11 female) had complete accelerometer data for the left wrist and 27 had complete data for the right wrist and were aged between 21 and 72 years (mean ± sd: 45 ± 15 years). Diagnosed sleep disorders included: hypersomnia (N = 2), insomnia (N = 2), REM behaviour disorder (N = 3), sleep apnoea (N = 5), narcolepsy (N = 1), sleep apnoea (N = 4), parasomnia (N = 1), restless leg syndrome (N = 5), and sleep paralysis (N = 1), and nocturnia (N = 1). Three patients had more than one sleep disorder.
Healthy good sleepers: these data come from 22 adults who underwent a one-night PSG assessment at the University of Pennsylvania Center for Sleep. Twenty-two participants recruited for the polysomnography study (68% female) had complete accelerometer data for the non-dominant wrist and were aged between 18 and 35 years (mean ± sd: 22.8 ± 4.5 years).
The Whitehall II cohort study12 (link): full details on data collection were previously described11 (link). Briefly, accelerometer measurement was added to the study at the 2012/2013 wave of data collection for participants seen at the central London clinic and for those living in the South-Eastern regions of England who underwent a clinical evaluation at home2 (link). Of the 4879 participants to whom the accelerometer was proposed in the Whitehall II Study, 388 did not consent and 210 had contraindications (allergies to plastic or metal, travelling abroad the following week). Of the remaining 4281 participants who wore the accelerometer, 4204 (98.2%) had valid accelerometer data (a readable data file). Among them, sleep diary data were missing for 80 participants and 29 additional participants did not meet criteria for accelerometer wear time (at least one night defined as noon-noon with >16 h of wear time). Of the remaining 4095 participants (a total of 27,966 nights) 342 did not have complete demographic data (age, BMI and sex). Therefore, the main assessment of discrepancies between the accelerometer and the sleep diary was undertaken in 3752 participants (76.9% of those invited) with a total of 25,645 nights11 (link). The resulting participants (75.2% men) were on average 69.1 (standard deviation (SD) = 5.6) years old and had a mean body mass index (BMI) of 26.4 (SD = 4.2) kg/m2.
Sleep clinic patients: these data come from 28 adult patients who were scheduled for a one-night polysomnography (PSG) assessment at the Freeman Hospital, Newcastle upon Tyne, UK, as part of their routine clinical assessment and were subsequently invited to participate in the study11 (link). All 28 patients recruited for the polysomnography study (11 female) had complete accelerometer data for the left wrist and 27 had complete data for the right wrist and were aged between 21 and 72 years (mean ± sd: 45 ± 15 years). Diagnosed sleep disorders included: hypersomnia (N = 2), insomnia (N = 2), REM behaviour disorder (N = 3), sleep apnoea (N = 5), narcolepsy (N = 1), sleep apnoea (N = 4), parasomnia (N = 1), restless leg syndrome (N = 5), and sleep paralysis (N = 1), and nocturnia (N = 1). Three patients had more than one sleep disorder.
Healthy good sleepers: these data come from 22 adults who underwent a one-night PSG assessment at the University of Pennsylvania Center for Sleep. Twenty-two participants recruited for the polysomnography study (68% female) had complete accelerometer data for the non-dominant wrist and were aged between 18 and 35 years (mean ± sd: 22.8 ± 4.5 years).
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Adult
Hypersensitivity
Hypersomnia
Index, Body Mass
Metals
Narcolepsy
Parasomnia
Patients
Polysomnography
Population Group
REM Sleep Behavior Disorder
Restless Legs Syndrome
Sleep
Sleep Apnea Syndromes
Sleep Disorders
Sleeplessness
Sleep Paralysis
Vision
Woman
Wrist
Most recents protocols related to «Narcolepsy»
Participants with suspected OSA seen between 2013 and 2018 were enrolled in the study. The inclusion criteria were whole-night PSG and a haematological examination; age ≥18 years; and male gender. The 1,352 initially enrolled patients were then screened according to the following exclusion criteria: previously diagnosed with OSA and treated with continuous positive airway pressure (CPAP), oral orthotics, upper airway surgery, etc.; systemic diseases, such as chronic liver disease, renal insufficiency, hyperthyroidism, hypothyroidism, or tumour; mental or neurological disorders; alcoholism; blood or platelet donation in the last 6 months; regular use of drugs affecting coagulation, such as aspirin, clopidogrel hydrogen sulphate tablets, and low-molecular heparin; and other sleep disorders, such as restless legs syndrome and narcolepsy. Ultimately, 903 male patients were included in this cross-sectional observational study.
The study was conducted in accordance with the Declaration of Helsinki. The Ethics Committee approved this study, and the trial was registered (ChiCTR1900025714 ) prior to commencement. Informed consent was obtained from all participants.
The study was conducted in accordance with the Declaration of Helsinki. The Ethics Committee approved this study, and the trial was registered (
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Alcoholic Intoxication, Chronic
Aspirin
BLOOD
Clopidogrel
Coagulation, Blood
Continuous Positive Airway Pressure
Disease, Chronic
Ethics Committees
Heparin
Hyperthyroidism
Hypothyroidism
Liver
Liver Diseases
Males
Narcolepsy
Neoplasms
Nervous System Disorder
Operative Surgical Procedures
Orthotic Devices
Patients
Pharmaceutical Preparations
Platelet Donation
Renal Insufficiency
Restless Legs Syndrome
Sleep Disorders
sulfuric acid
Vision
To adjust for comorbidities (e.g., cardiac disease, cerebrovascular disease, renal failure, liver diseases, malignancies, and diabetes mellitus), Quan’s algorithm of Charlson Comorbidity Index (CCI) [29 (link)] was used, which is known to predict mortality adequately [30 (link)]. Given that the original CCI calculation includes dementia diagnosis, we calculated CCI except for dementia because it was our primary outcome variable. In addition to CCI, a history of schizophrenia, mood disorders (depression and bipolar disorder), anxiety disorders, Parkinson’s disease, iron deficiency anemia, and sleep disorders (insomnia, hypersomnia, sleep-related breathing disorder, narcolepsy, sleepwalking, sleep terror, and nightmare) were considered as covariates.
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Anxiety Disorders
Bipolar Disorder
Cerebrovascular Disorders
Dementia
Diabetes Mellitus
Diagnosis
Heart Diseases
Hypersomnia
Iron Deficiency Anemia
Kidney Failure
Liver Diseases
Malignant Neoplasms
Mood Disorders
Narcolepsy
Nightmares
Night Terrors
Schizophrenia
Sleep Disorders
Sleeplessness
Patients who attended our sleep center from January 2013 to December 2020 that presented with a clinical suspicion of sleep-disordered breathing, including snoring, sleepiness and witnessed sleep apnea, were enrolled in the study. We selected subjects using complete abdominal imaging, then recorded their sleep symptoms, value on the Epworth sleepiness scale (ESS), history of alcohol consumption and smoking, medical history, and current medications. Patients who were previously diagnosed with or treated for OSA were excluded. Other exclusion criteria included: current use of hepatotoxic drugs (including some Chinese herbal medicines or chemotherapeutic drugs); severe cardiopulmonary chronic disease requiring hospitalization; acute inflammatory disease; or other sleep disorders such as restless leg syndrome or narcolepsy. This study complied with the Declaration of Helsinki. It was approved by the ethics committee of the First Affiliated Hospital of Fujian Medical University (Fuzhou, China), and all participants provided their written consent.
Abdomen
Acute Disease
Chinese
Cor Pulmonale
Ethics Committees, Clinical
Hospitalization
Inflammation
Medicines, Herbal
Narcolepsy
Patients
Pharmaceutical Preparations
Pharmacotherapy
Restless Legs Syndrome
Sleep
Sleep Apnea Syndromes
Sleep Disorders
Somnolence
For the purpose of this study, we extracted data for patients satisfying the following criteria: aged ≥ 20 to < 75 years old, diagnosis of insomnia (ICD-10 code G470), prescription for one or more hypnotic between April 1, 2018 and March 31, 2020 (index period), and continuous enrollment for ≥ 12 months before the index date (Fig. 1 ). In the present study, we only analyzed data for outpatients. The index date was defined as the date of the first recorded prescription of one or more hypnotic during the index period. For patients with a recorded prescription in this period, we extracted their hypnotics prescription data for a 12-month pre-index period to identify their prescription history of hypnotics. Patients were excluded for the following reasons: one or more diagnosis of narcolepsy and/or cataplexy (G474) during the study period, hospitalization at the index date, missing data for the hypnotics prescription date during the study period, or use of hypnotics lacking prescription information during the study period. We excluded patients with narcolepsy and/or cataplexy in the present study because ORA (suvorexant) should be administered with caution in patients with narcolepsy or catalepsy in Japan in accordance with the package insert [18 ]. When identifying factors associated with its prescription, we considered that such items should be excluded from the analysis. Hospitalized patients were excluded because we wished to focus on outpatient use of hypnotics and because the data for inpatients lacked information on whether hypnotics were prescribed for bedtime administration. In the present study, patients who were prescribed hypnotics as pro re nata only at the index date and patients with overlapping prescriptions for hypnotics from two or more physicians at the index date were not analyzed.![]()
Patients were classified as new users of hypnotics if they had no hypnotics prescription history during the 12-month pre-index period or as non-new users if they had any history of hypnotics prescription during the pre-index period (Fig. 2 ). New and non-new users of hypnotics were further divided into two groups (users prescribed ORA and users prescribed other hypnotics). In the study period, suvorexant was the only ORA available in Japan.![]()
Patient disposition. ICD-10 International Classification of Diseases, 10th Edition, ORA orexin receptor antagonist. aPatients who were prescribed hypnotics as pro re nata only at the index date and patients with overlapping prescriptions for hypnotics from two or more physicians at the index date were excluded at the enrollment phase. bPatients aged ≥ 75 years are not included in the JMDC Claims Database
Study definitions. ORA orexin receptor antagonist
Catalepsy
Cataplexy
Diagnosis
Hospitalization
Hypnotics
Inpatient
N-acetyltryptophanamide
Narcolepsy
Orexin Receptor Antagonists
Outpatients
Patients
Sleeplessness
suvorexant
Patients referred for suspected OSA at the sleep center and underwent full-night polysomnography (PSG) from November 2020 to October 2022 were enrolled. The inclusion criteria were (1) age > 18 years old, (2) accomplishing the demographic and sleep questionnaires, and (3) willing to participate and sign the informed consent. The exclusion criteria were (1) receiving OSA treatment including continuous positive airway pressure (CPAP) over a year before enrollment; (2) diagnosis of restless legs syndrome, narcolepsy, or rapid-eye-movement sleep behavior disorder; (3) combining severe hepatic or renal insufficiency or pregnancy; (4) total sleep time <4 h; and (5) other type of diabetes. The study protocol was approved by the ethics committees of PUMCH (JS-3573). The whole procedure was conducted in accordance with the Declaration of Helsinki. Written informed consent was obtained from each participant in this study.
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Continuous Positive Airway Pressure
Diabetes Mellitus
Diagnosis
Ethics Committees
Narcolepsy
Patients
Polysomnography
Pregnancy
REM Sleep Behavior Disorder
Renal Insufficiency
Restless Legs Syndrome
Sleep
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More about "Narcolepsy"
Narcolepsy is a chronic neurological condition characterized by excessive daytime sleepiness, sudden and uncontrollable episodes of sleep, and other sleep disturbances.
Individuals with narcolepsy often experience cataplexy, a sudden loss of muscle tone triggered by strong emotions.
Research into effective treatments and protocols for narcolepsy is crucial to improve the quality of life for those affected.
PubCompare.ai can optimize your narcolepsy research by helping you locate the best protocols from literature, preprints, and patents.
The AI-driven comparisons enhance reproducibility and accuracy, ensuring you find the most reliable and effective methods for your research.
Synonyms and related terms for narcolepsy include sleep disorder, sleep attacks, sleep paralysis, hypnagogic hallucinations, and rapid eye movement (REM) sleep abnormalities.
Abbreviations commonly used include NCL and EDS (excessive daytime sleepiness).
Key subtopics in narcolepsy research include the underlying neurological mechanisms, genetic factors, environmental triggers, diagnostic criteria, and emerging treatment options.
Techniques like XMAP technology, SPSS for Windows, Cytoscape software 3.7.2, SAS statistical software, SPSS Statisitcs, Formalin solution, Vision Recorder, Axiom CHB array, and SAS version 9.4 can be utilized to support narcolepsy research and analysis.
Furthermore, Affymetrix Genotyping Console may provide insights into the genetic components of the disorder.
By leveraging these tools and resources, researchers can enhance the reproducibility and accuracy of their narcolepsy studies, ultimately leading to more effective treatments and improved quality of life for those affected by this chronic condition.
Individuals with narcolepsy often experience cataplexy, a sudden loss of muscle tone triggered by strong emotions.
Research into effective treatments and protocols for narcolepsy is crucial to improve the quality of life for those affected.
PubCompare.ai can optimize your narcolepsy research by helping you locate the best protocols from literature, preprints, and patents.
The AI-driven comparisons enhance reproducibility and accuracy, ensuring you find the most reliable and effective methods for your research.
Synonyms and related terms for narcolepsy include sleep disorder, sleep attacks, sleep paralysis, hypnagogic hallucinations, and rapid eye movement (REM) sleep abnormalities.
Abbreviations commonly used include NCL and EDS (excessive daytime sleepiness).
Key subtopics in narcolepsy research include the underlying neurological mechanisms, genetic factors, environmental triggers, diagnostic criteria, and emerging treatment options.
Techniques like XMAP technology, SPSS for Windows, Cytoscape software 3.7.2, SAS statistical software, SPSS Statisitcs, Formalin solution, Vision Recorder, Axiom CHB array, and SAS version 9.4 can be utilized to support narcolepsy research and analysis.
Furthermore, Affymetrix Genotyping Console may provide insights into the genetic components of the disorder.
By leveraging these tools and resources, researchers can enhance the reproducibility and accuracy of their narcolepsy studies, ultimately leading to more effective treatments and improved quality of life for those affected by this chronic condition.