Obstructive sleep apnea (OSA) is a common but underdiagnosed and undertreated sleep disorder among people with epilepsy (PWE). In PWE, this sleep disorder is often managed as a comorbid condition rather than a contributor to epilepsy outcomes. For many years, OSA has been associated with higher seizure burden and interictal epileptiform discharges. Emerging evidence links OSA to late onset epilepsy (LOE) and increased risk markers for sudden unexpected death in epilepsy (SUDEP). This evidence also suggests that treating OSA with continuous positive airway pressure may improve seizure control. This critical review of the literature posits that OSA should be viewed as a modifiable risk factor for PWE. We apply the Bradford Hill criteria for causation as a framework to appraise the evidence connecting OSA with (1) seizure severity, (2) incident LOE, and (3) SUDEP risk. OSA supports eight of nine Bradford Hill criteria to varying degrees: strength, consistency, temporality, biological gradient, plausibility, coherence, analogy, and experiment, but not specificity. Key limitations include confounding, selection and adherence biases, and limited randomized evidence. However, the evidence supports integrating systematic OSA screening and evidence-based treatment into epilepsy care. Future research should prioritize randomized trials to assess the impact of OSA treatment on epilepsy incidence, severity, and SUDEP risk.
Idiopathic hypersomnia (IH) presents with debilitating daytime sleepiness. The pathophysiology of IH is poorly understood and there is lack of data concerning thoroughly documented comorbidities such as major depressive disorder (MDD), coupled with polysomnography (PSG) and multiple sleep latency test (MSLT) findings. We aimed to characterize clinical and PSG/MSLT characteristics of IH patients with and without MDD, seen within the Lehigh Valley Health Network. We performed a chart review of all IH cases seen between 2000 and 2022, extracting presenting clinical features, comorbidities, PSG and MSLT findings. Descriptive statistics were generated for the entire sample and bivariate analyses were conducted to highlight differences between patients with MDD compared to those without. We included 142 patients diagnosed with IH, based on the International Classification of Sleep Disorders-3 criteria. Age at onset was 25.33±7.93 years and 119 (83.80%) were female. Average Epworth Sleepiness Scale (ESS) was 16.77±2.92. The most common presenting symptoms were sleep inertia [68(47.89%)], non-refreshing naps [48 (33.8%)], disrupted sleep [36(25.35%)]. MDD was the most frequent mood disorder [77(54.23%)]. Compared to patients without MDD, MDD patients had older age at onset (27.10±8.32 versus 23.23±6.94 years; p=0.003), lower ESS (15 versus 19; p< 0.0001), reported more frequently distrupted sleep [28(36.36%) versus 8(12.31%); 0.001], less non-refreshing naps [16(20.78%) versus 32(49.23%); p< 0.001] and less sleep inertia [30(38.96%) versus 38(58.46%); p=0.02]. Review of overnight PSG data among the whole cohort showed a median sleep efficiency of 90% (IQR:86%-95%), sleep latency of 13.50 minutes (IQR:6-33), REM latency of 122.5 minutes (IQR:79.50-183.50). On MSLT, average sleep latency was 5.21±2.08 minutes. Only 23 (16.20%) patients had sleep onset REM periods (SOREMP) on MSLT. Fewer patients with MDD [7 (9.09%)] had SOREMPs compared to patients without MDD [(16 (24.62%)] (p=0.0124). MDD patients had longer sleep latency [15.50 (7-36.50) versus 9.50 (4-22.50) minutes; p=0.002]. Our study highlights significant clinical and polysomnographic differences in IH patients with and without MDD. These findings underscore the importance of recognizing MDD as a comorbidity in IH, as it may influence clinical presentation and diagnostic features. Further research may elucidate underlying mechanisms and optimize management strategies for this subset of patients.
Background/Objectives: Narcolepsy was first described in the late 19th century, and in the current decade, narcolepsy patients are reaching their senior years. Little is known about the evolution of clinical features, the management of narcolepsy medications, and the development of comorbid conditions. We aimed to present the clinical characteristics, comorbidities, and therapeutic choices of seniors with narcolepsy. Methods: We extracted 21 charts of patients older than 65 with a diagnosis of narcolepsy according to the International Classification of Sleep Disorders Third Edition. We reviewed and analyzed all clinical and available polysomnographic data. Results: A total of 21 patients (median age 69 years. 67.0–71.0 interquartile range IQR; 71% female) were included. Three (14.3%) had type I and 18 (85.7%) had type II narcolepsy. The average age at symptom onset was 23 years (IQR 19.5–27.5). Diagnosis was made at an average age of 41 years (IQR 33–45), between 1990 and 2002. Median time from onset to diagnosis was 13.7 years (IQR 9.5–19). The most prevalent cardiovascular/metabolic comorbidity was hypertension (57.1%). All patients were historically using narcolepsy medications. Fewer patients were currently on wake-promoting agents (85.7%), with over half on modafinil (55.6%). None currently reported the need to nap during the daytime. Conclusions: Narcolepsy is a lifelong, but not progressive disorder, that has yet to be well-characterized in the senior population. A few seniors appear to outgrow the disorder and to no longer need wake-promoting agents. It is important to consider cardiometabolic comorbidities in the management of narcolepsy in this population. Geriatricians should be educated on narcolepsy with specific programs for these seniors.
We aimed to characterize clinical features, comorbidities, and polysomnographic characteristics of a large cohort of patients with narcolepsy. We undertook a retrospective chart and polysomnographic review of all patients with a diagnosis of narcolepsy type 1 (NT1) or narcolepsy type 2 (NT2) seen within the Lehigh Valley Health Network between 2000 and 2022. We found 304 cases with a diagnosis of narcolepsy (52 NT1, 252 NT2), based on International Classification of Sleep Disorders, third edition criteria. Compared to NT2, patients with NT1 had younger diagnosis age (24.5 vs 27.4 years, P = .03), shorter diagnostic gap (3.0 vs 4.6 years, P = .002), more frequent sleep paralysis (55.8
BACKGROUND:Synesthesia is a condition in which the stimulation of one sensory modality triggers unusual experiences in a second sensory modality such as colors or shapes. Synesthesia has been linked to specific conditions such as autism spectrum disorder, although the mechanisms underlying synesthesia remain largely unclear. OBJECTIVE:This pilot study aimed to investigate the prevalence of grapheme-color synesthesia (GCS) in patients with epilepsy and to characterize the epilepsy features associated with GCS experiences. METHODS:Participants were asked whether they reported experiences suggesting GCS. Those reporting GCS underwent a standard online consistency and congruency battery test (http://www.synesthete.org). Epilepsy features, electroencephalogram (EEG) findings, and magnetic resonance imaging (MRI) findings were collected and analyzed. RESULTS:Of the 40 study participants, 21 reported GCS experiences and 3 (7.5 %) resulted synesthetes from the battery test. Analysis of the test results showed that participants with focal seizures had lower median consistency scores (indicating they were less consistent in their color assignments) and higher congruency scores (indicating they were more accurate in quickly identifying matching color and letter/number combinations) compared to patients with generalized-onset seizures (2.9 and 51.4 respectively; p = 0.006, p = 0.001). Participants with non-motor seizures had lower median consistency scores (1.1) and higher congruency scores (79.2) compared to patients with motor seizures (2.8 and 52.8, respectively; p = 0.011, p = 0.036). CONCLUSION:GCS may be more prevalent in patients with epilepsy than the general population. Focal and non-motor seizures may be associated with predisposition to GCS. Further larger scale studies are needed to confirm and expand these observations.
Background/Objectives: There is limited data on well-documented comorbidities with polysomnography (PSG)/multiple sleep latency test (MSLT) findings in idiopathic hypersomnia (IH). We aimed to characterize the clinical, PSG/MSLT characteristics of IH patients in our health network. Methods: We reviewed charts of all IH cases between 2000 and 2023, extracting clinical features, comorbidities, and PSG/MSLT findings. Results: One hundred forty-two patients (83.80% female) with IH were included. Compared to those without mood disorders, both major depressive disorder (MDD) and anxiety patients were older at onset (27.10 ± 8.32 and 26.76 ± 8.40 versus 23.23 ± 6.94 and 24.05 ± 7.31 years; p = 0.003 and p = 0.042) and had lower ESS (15 versus 19; 15.67 versus 17.75; p < 0.0001), more disrupted sleep (28 (36.36%) versus 8 (12.31%); p = 0.001; 24 (35.82%) versus 12 (16%); p = 0.007), and less sleep inertia (30 (38.96%) versus 38 (58.46%); p = 0.021; 26 (38.81%) versus 42 (56%); p = 0.04). Fifteen patients with dysautonomia disorders presented at an earlier age (21.80 ± 6.60 versus 25.75 ± 8, p = 0.0682). On MSLT, MDD, anxiety, and dysautonomia patients had longer sleep latencies than the non-affected counterparts (6.40 (5.40–7.60) minutes versus 3.60 (2.60–5.40) min., <0.0001; 6.20 (5.20–7.40) versus 4 (2.60–6.40) minutes; p < 0.0001; 7.40 (6–7.80) versus 5.40 (3–7); p = 0.008). MDD and anxiety cases had fewer sleep onset REM periods (7 (9.09%) versus 16 (24.62%), p = 0.0124 and 6 (8.96%) versus 17 (22.67%), p = 0.0388) compared to those not affected by these disorders. Conclusions: Our study highlights the importance of recognizing mood disorders and dysautonomia in patients diagnosed with IH. Further research may elucidate management strategies for these patients.
Abstract Introduction Narcolepsy has been associated with several psychiatric, cardiovascular and metabolic disorders. This study aimed to analyze the clinical and polysomnographic characteristics of narcolepsy patients within the Lehigh Valley Health Network (LVHN). Methods We performed a chart-review of all narcolepsy cases seen between 2000 and 2022. Bivariate analysis highlighted differences between narcolepsy-type I (NT1) and narcolepsy-type II (NT2). Results Among 3.3 million patients, 303 (0.0001%, 9 per 100,000) were diagnosed with narcolepsy (51 with NT1, 252 with NT2), based on ICDS-3 diagnostic criteria. Age at symptom onset was 20.5±6.8 years. Diagnostic delay was 4.1 (2.0-8.9) years. Average Epworth Sleepiness Scale (ESS) was 16.9±2.9. Concomitant symptoms were refreshing naps [226(74.6%)], hypnagogic hallucinations [87(28.7%)], disrupted sleep [86(28.4%)], sleep paralysis [77(25.4%)]. Compared to NT2, NT1 patients had earlier age at diagnosis (24.3±8.0 versus 27.6±9.1, p=0.02), shorter diagnostic gap (3.0 vs 4.6 years, p=0.001), more frequent sleep paralysis [27(52.9%) vs 50(19.8%) p< 0.0001], hygnagogic hallucinations [22(43.1%) vs 65(25.8%), p=0.01], higher ESS (17.6±3.3 versus 16.7±2.8, p=0.04). Comorbid sleep disorders were breathing disorders (17.5%), insomnia (15.5%), restless legs syndrome (3.6%), periodic limb movements (2.3%), and REM parasomnias (1.3%). Migraine was the most common neurological disorder (29.7%). Frequent mood disorders included depression (34.7%) and anxiety (32.3%). Depression was more common in NT2 [11 (21.6%) vs 94 (37.3%) p=0.03]. Hypertension, diabetes, and obesity prevalence were not different between the two groups (overall 24.1%, 8.3%, 12.5% respectively). The most common treatments were modafinil (66.3%), methylphenidate (31.3%), armodafinil (28.1%), dextroamphetamine (28.8%), sodium oxybate (8.7%), pitolisant (4.5%), solriamfetol (5.2%). Review of overnight-polysomnography showed an average sleep efficiency of 93%, sleep latency of 12.3 minutes, REM latency of 98.8 minutes, with no differences between NT1 and NT2. Multiple sleep latency test showed an average sleep latency of 3.7 (2.4-5.0) minutes, and more SOREMPs in NT1 (≥3 in 28 (58.3%) vs 64 (27.1%), p< 0.0001). Conclusion This study is one of the largest monocentric studies to date of patients with narcolepsy and confirms the frequent comorbidity of narcolepsy with many other disorders. Specific clinical characteristics and comorbidities may help differentiate NT1 from NT2. Further analysis on this dataset is in progress and will be presented. Support (if any)
Rapid eye movement sleep behavior disorder is a sleep disturbance characterized by the absence of regular paralysis during rapid eye movement sleep, accompanied by dream enactment behavior. The available pharmacotherapy options for treating rapid eye movement sleep behavior disorder are limited, and the utilization of antidepressants has yielded mixed results. We report 3 cases of isolated rapid eye movement sleep behavior disorder improved with trazodone. Doses of 50-100 mg of trazodone at bedtime over 4-6 months resulted in significant clinical improvement. These cases highlight that trazodone could serve as a treatment for isolated rapid eye movement sleep behavior disorder that does not respond to traditional treatments at submaximal dosages.
Narcolepsy Type 1 is a sleep disorder, with cataplexy as its cardinal feature, characterized by sudden decrease or loss of muscle tone triggered by strong emotions. Cataplexy can be misdiagnosed as epileptic seizures given its clinical similarity to atonic seizures. The low prevalence of the disease added another layer of complexity in providing timely and accurate diagnosis. We report a case of a young man with recurrent episodes of falling and an inability to respond, initially misinterpreted as epileptic seizures due to findings in routine electroencephalography (EEG). Anti-seizure medications were ineffective, and subsequent ambulatory EEG revealed no epileptic activity during events. A detailed history uncovered symptoms of cataplexy and daytime sleepiness, leading to the correct diagnosis of narcolepsy type I confirmed by polysomnogram (PSG) and mean sleep latency test (MSLT). Discontinuation of anti-seizure medications and treatment with venlafaxine successfully resolved cataplexy. The case highlights the importance of a thorough clinical history in distinguishing cataplexy from seizures, as well as the caution against relying solely on EEG findings for epilepsy diagnosis. Ambulatory EEG can help exclude epileptic events, and PSG with MSLT are necessary to confirm narcolepsy type I.
Juvenile Myoclonic Epilepsy (JME) is an idiopathic generalized epilepsy associated with a characteristic sleep/ wake rhythm, with the tendency to go to bed later at night, to get up later in the morning. In the pediatric population, we have previously observed specific circadian and sleep/wake patterns of generalized seizures (6 am-12 pm) and myoclonic seizures (in wakefulness, 6 am to noon). Delayed Sleep-Wake Phase Disorder (DSWPD) is characterized by sleep initiation insomnia when attempting sleep at conventional times and difficulty waking at the required time. Here we present the case of a 20-year-old man with JME, diagnosed DSWPD (sleep schedule 3 am to 11 am), presenting with nocturnal seizures out of sleep, always between 5 and 6am. Improvements in seizure control (seizure frequency from 8 per month to 0 per month) were achieved with timed evening melatonin, combined with behavioral sleep-wake scheduling (sleep schedule 10 pm to 6 am) and morning light therapy. Recognition and characterization of DSWPD in JME, together with assessment of circadian and diurnal seizure patterns, may offer therapeutic consideration for better control of seizures.
Growing evidence suggests that transgender individuals face a significant health disparity and are particularly vulnerable to sleep disorders. We present two patients who developed irregular sleep-wake rhythm disorder after gender reassignment and hormone replacement therapy. The growing interest in transgender health warrants further evaluation of the effects and frequency of all sleep disorders in this population. Efforts to address sleep disorders should consider assessing sleep disturbance in terms of sleep/wake patterns and schedules.
Residents and fellows can play a helpful role in promoting safe and effective machine-learning tools in sleep medicine. Here we highlight the importance of establishing ground truths, considering key variables, and prioritizing transparency and accountability in the development of machine-learning tools within the field of artificial intelligence. Through understanding, communication, and collaboration, in-training physicians have a meaningful opportunity to help progress the field toward safe machine-learning tools in sleep medicine.
The prevalence and pathophysiology of central sleep apnea (CSA) in neurology patients seem to vary greatly and have yet to be well characterized. The aim of the study was to describe the prevalence and characteristics of CSA in adult patients with underlying neurological disorders. We undertook a retrospective analysis of 153 consecutive neurology outpatients who underwent home sleep testing over a 4‐year period. We excluded 14 patients with congestive heart failure. Demographic, clinical, and polysomnography data were collected and analyzed. Out of the 139 patients tested, 17 (12.2
ABSTRACT:We report the case of a 50-year-old man with disabling recurrent hypersomnia with autonomic instability due to catatonia in the setting of atypical bipolar disorder. Treatment with valproic acid for bipolar disorder resulted in complete resolution of symptoms.
The most common thresholds for considering prolonged seizures as status epilepticus (SE) are 5 and 30 min. It is unknown whether these different thresholds (5 or 30 min) identify patient populations with different electroclinical characteristics. We compared the characteristics of patients with SE lasting 5-29 min (SE5-29) with those with SE lasting ≥30 min (SE≥30). Inclusion criteria were the following: 1) 1 month to 21 years of age at the time of SE, 2) convulsive seizures, and 3) seizure duration ≥5 min. Exclusion criteria were the following: 1) exclusively neonatal seizures, 2) psychogenic nonepileptic seizures, or 3) incomplete information about seizure duration. Four hundred forty-five patients (50.1% male) with a median (p25-p75) age at SE of 5.5 (2.8-10.5) years were enrolled. Status epilepticus lasted for 5-29 min in 296 (66.5%) of subjects and for ≥30 min in 149 (33.5%). Patients with SE≥30 were younger than the patients with SE5-29 at the time of seizure onset (median: 1 versus 2.1 years, p=0.0007). Status epilepticus as the first seizure presentation was more frequent in patients with SE≥30 (24.2% versus 12.2%, p=0.002). There was a tendency towards a higher rate of abnormalities in the magnetic resonance imaging at baseline in patients with SE≥30 (70.5% versus 57.1%, p=0.061). Differences were not detected in seizure frequency, seizure types, presence of developmental delay, and electroencephalogram abnormalities at baseline. In the pediatric population, SE thresholds of either 5 or 30 min identify groups of patients with very similar electroclinical characteristics, which may influence future definitions of pediatric SE.
The most common thresholds for considering prolonged seizures as status epilepticus (SE) are 5 and 30 min. It is unknown whether these different thresholds (5 or 30 min) identify patient populations with different electroclinical characteristics. We compared the characteristics of patients with SE lasting 5-29 min (SE5-29) with those with SE lasting ≥30 min (SE≥30). Inclusion criteria were the following: 1) 1 month to 21 years of age at the time of SE, 2) convulsive seizures, and 3) seizure duration ≥5 min. Exclusion criteria were the following: 1) exclusively neonatal seizures, 2) psychogenic nonepileptic seizures, or 3) incomplete information about seizure duration. Four hundred forty-five patients (50.1% male) with a median (p25-p75) age at SE of 5.5 (2.8-10.5) years were enrolled. Status epilepticus lasted for 5-29 min in 296 (66.5%) of subjects and for ≥30 min in 149 (33.5%). Patients with SE≥30 were younger than the patients with SE5-29 at the time of seizure onset (median: 1 versus 2.1 years, p=0.0007). Status epilepticus as the first seizure presentation was more frequent in patients with SE≥30 (24.2% versus 12.2%, p=0.002). There was a tendency towards a higher rate of abnormalities in the magnetic resonance imaging at baseline in patients with SE≥30 (70.5% versus 57.1%, p=0.061). Differences were not detected in seizure frequency, seizure types, presence of developmental delay, and electroencephalogram abnormalities at baseline. In the pediatric population, SE thresholds of either 5 or 30 min identify groups of patients with very similar electroclinical characteristics, which may influence future definitions of pediatric SE.