857 Too sleepy: A pediatric case of Prader Willi Syndrome and Narcolepsy

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A333-A333
Author(s):  
Elizabeth Lam ◽  
Sonal Malhotra ◽  
Daniel Glaze
Keyword(s):  
Daytime Sleepiness ◽  
Sleep Latency ◽  
Chromosome Region ◽  
Genetic Disorder ◽  
Sleep Onset ◽  
Apnea Hypopnea Index ◽  
Prader Willi Syndrome ◽  
Obstructive Sleep ◽  
Patient Reported

Abstract Introduction Prader Willi syndrome (PWS) is a genetic disorder due to deletion of the paternal copies of genes within the chromosome region 15q11-q13. Individuals with PWS are commonly seen with obesity, sleep disordered breathing, and excessive daytime sleepiness (EDS). While the exact cause of EDS in individuals with PWS is not fully understood, there have been reports of PWS with narcolepsy-like syndrome. We report a case of a patient with PWS with findings suggesting the diagnosis of Narcolepsy Type 2. Report of case(s) Our patient is a 12-year-old male with PWS and 2nd degree heart block who was evaluated in our pediatric sleep center. He has a previous diagnosis of mild obstructive sleep apnea (OSA) with an apnea hypopnea index (oAHI) of 3.2. At 12 years of age, mother and patient reported that he had increased snoring, weight gain, EDS with a Pediatric Daytime Sleepiness Score (PDSS) of 10 and frequent refreshing naps during the daytime. Patient denied cataplexy during that visit. Subsequently, 2-week actigrapghy was performed which demonstrated an average total night sleep of 8 hours and 8 minutes. Overnight PSG with Multiple Sleep Latency Test (MSLT) demonstrated an oAHI of 4.8, total sleep time of 6.88 hours. During the MSLT, the mean sleep latency was 6.2 minutes and 5 sleep onset REM periods were observed over 5 nap opportunities. At his follow-up visit, methylphenidate was initiated after clearance by his cardiologist. Patient and mother opted for medical management of his mild OSA with Fluticisone and Montelukast. At his follow-up appointment, the patient had improvement in daytime sleepiness with a PDSS of 2 despite taking his Methylphenidate at night. Patient was instructed to switch to morning Methylphenidate dosing to optimize treatment of his EDS. Conclusion EDS is a common complaint seen in patients with PWS, however the etiology of it is not entirely understood. It is thought to be centrally mediated with components of hypersomnia and narcolepsy like-symptoms. More research is needed to better understand, diagnose and adequately treat patients with PWS and EDS. Support (if any):

851 Self-Medication with Caffeine for 31 Years: A Case of Undiagnosed Childhood Narcolepsy Type II

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A331-A331
Author(s):  
Moustapha Doulaye Seydou ◽  
Christian Karime ◽  
Brenda Wyrick ◽  
Amir Khan
Keyword(s):  
Sleep Latency ◽  
Treatment Plan ◽  
Sleep Onset ◽  
Panic Attacks ◽  
Apnea Hypopnea Index ◽  
Type Ii ◽  
Obstructive Sleep ◽  
Sleep Benefit ◽  
Patient Reported ◽  
Multiple Episodes

Abstract Introduction Narcolepsy represents a relatively rare chronic neurological sleep disorder. While peak incidence occurs in adolescence and early-adulthood, reports indicate a substantial number of children under 10 remain undiagnosed or are misdiagnosed. The present case describes a female with undiagnosed narcolepsy type II self-medicating with caffeinated beverages from the age of 7. Report of case(s) A 40-year-old female presented at our clinic with excessive daytime fatigue and hypersomnolence despite adequate sleep (Epworth sleepiness scale= 16/24). The patient denied snoring, sleep paralysis, catalepsy, and hypnagogic/hypnopompic hallucinations. Symptoms began at the age of 7 and steadily worsened, with teachers reporting significant concentration difficulties and multiple episodes of unintentional sleep onset in the classroom. The patient reported heavily relying on caffeinated beverages from the age of 7 to remain awake and focused on classroom activities. Starting at the age of 7, the patient consumed on average a caffeine-equivalent of 1 espresso shot/day (64mg caffeine/day). This increased to 4–6 espresso shots/day (256-384mg caffeine/day) by the age of 12 and 5–9 espresso shots/day (320-576mg caffeine/day) by the age of 18. At the age of 25, the patient developed severe anxiety with panic attacks and episodes of suicidal ideation. With multiple episodes of sleep onset while operating a motor vehicle, a near-accident prompted medical evaluation. Diagnosed with general anxiety disorder and idiopathic hypersomnolence, escitalopram and armodafinil were started with limited effect. The patient continued self-medicating with caffeinated beverages until age 38 when she was diagnosed with narcolepsy type II. Sodium oxybate was subsequently added to her treatment plan with initial sleep benefit and caffeine reduction. A repeat mean sleep latency test confirmed narcolepsy type II (mean sleep latency= 3 minutes, mean rapid eye movement [REM] sleep latency= 3 minutes). Polysomnography was later performed due to non-resolving symptoms, revealing mild obstructive sleep apnea (REM apnea-hypopnea index= 13.5/hour). Continuous positive airway pressure was added to the treatment regime with significant sleep benefit. Conclusion We describe a case of undiagnosed childhood narcolepsy type II necessitating significant caffeine consumptions in order to maintain classroom performance. With known anxiety-provoking effects of caffeine, the case highlights the importance of addressing childhood narcolepsy. Support (if any):

scholarly journals 1253 Multiple sleep onset REM episodes in middle age woman with excessive daytime sleepiness – Is this automatically assumed narcolepsy?

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A477-A477
Author(s):  
Kamal Patel ◽  
Bianca J Lang
Keyword(s):  
Daytime Sleepiness ◽  
Sleep Latency ◽  
Sleep Onset ◽  
Sleep Time ◽  
Multiple Sleep Latency Test ◽  
Sleep Onset Latency ◽  
Onset Latency ◽  
Obstructive Sleep ◽  
Falling Asleep ◽  
Multiple Sleep Latency

Abstract Introduction Presence of sleep onset REM episodes often raises concerns of narcolepsy. However other conditions have shown to have presence of sleep on REM episodes which include but not limited to obstructive sleep apnea, sleep wake schedule disturbance, alcoholism, neurodegenerative disorders, depression and anxiety Report of Case Here we present a case of 30 year old female with history of asthma, patent foraman ovale, migraine headache, and anxiety who presented with daytime sleepiness, falling asleep while at work, occasional scheduled naps, non-restorative sleep, sleep paralysis, and hypnopompic hallucination. Pertinent physical exam included; mallampati score of 4/4, retrognathia, high arched hard palate, crowded posterior oropharynx. She had a score of 16 on Epworth sleepiness scale. Patient previously had multiple sleep latency test at outside facility which revealed 4/5 SOREM, with mean sleep onset latency of 11.5 minutes. She however was diagnosed with narcolepsy and tried on modafinil which she failed to tolerate. She was tried on sertraline as well which was discontinued due to lack of benefit. She had repeat multiple sleep latency test work up which revealed 2/5 SOREM, with mean sleep onset latency was 13.1 minutes. Her overnight polysomnogram prior to repeat MSLT showed SOREM with sleep onset latency of 10 minutes. Actigraphy showed consistent sleep pattern overall with sufficient sleep time but was taking hydroxyzine and herbal medication. Patient did not meet criteria for hypersomnolence disorder and sleep disordered breathing. Conclusion There is possibility her medication may have played pivotal role with her daytime symptoms. We also emphasize SOREMs can be present in other disorders such as anxiety in this case and not solely in narcolepsy

818 A Ghost from the Past: Unmasked Insomnia Affecting Hypoglossal Nerve Stimulation Therapy Adherence

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A319-A320
Author(s):  
Elena Stuewe ◽  
Aarti Grover ◽  
Peter Ostrow ◽  
Greg Schumaker ◽  
Joel Oster ◽  
...  
Keyword(s):  
Nerve Stimulation ◽  
Hypoglossal Nerve ◽  
Sleep Onset ◽  
Chronic Insomnia ◽  
Apnea Hypopnea Index ◽  
Therapy Adherence ◽  
Hypoglossal Nerve Stimulation ◽  
Obstructive Sleep ◽  
Patient Reported ◽  
History Of

Abstract Introduction Hypoglossal nerve stimulation (HNS) is an efficacious option for treating moderate to severe obstructive sleep apnea (OSA). However, there is sparse evidence regarding tolerance and adherence to HNS therapy in patients with a diagnosis of insomnia. Report of case(s) A 57-year-old man with well-controlled depression presented for evaluation for HNS therapy. He had been diagnosed with moderate OSA with an apnea-hypopnea index of 22/hour, intolerant of continuous positive airway pressure and mandibular advancement device. He underwent uvulopalatopharyngoplasty without significant improvement. At the time of initial evaluation, he denied history of insomnia and prior sleep aid use. He subsequently underwent successful HNS device implantation and activation. One week after HNS initiation, the patient reported new symptoms of significant difficulty with sleep onset and inability to fall back asleep, which was worse than his untreated OSA symptoms. Device interrogation did not reveal any hardware problems. Adjustments to start delay, pause time and device configuration with awake endoscopy did not improve tolerance. Subsequently, the patient disclosed a remote history of insomnia, which was treated with multiple hypnotics in addition to cognitive-behavioral therapy for insomnia (CBTi) and had resolved. He was diagnosed with recurrent chronic insomnia, for which eszopiclone was initiated without significant improvement. He eventually agreed to CBTi, with partial improvement in device tolerance and improvement in insomnia symptoms. Conclusion This case highlights that HNS therapy adherence can be affected by prior history of, or a current diagnosis of insomnia. Our patient had a predisposition for insomnia that was well controlled prior to HNS therapy initiation. The onset of recurrent insomnia with HNS activation suggests that HNS was a precipitating factor for his now chronic insomnia. Although there is insufficient evidence to suggest whether history of insomnia should affect the decision to initiate HNS therapy, this case illustrates the importance of screening for insomnia at pre-implant evaluation. Our center is now routinely screening for a history of insomnia to identify patients who may benefit from treatment prior to HNS implantation. Larger studies are needed to explore a possible relationship between insomnia and HNS adherence. Support (if any):

scholarly journals 1269 Off-Label Use of Solriamfetol In Idiopathic Hypersomnia

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A482-A483
Author(s):  
Tammy Wong ◽  
Talha Memon
Keyword(s):  
Daytime Sleepiness ◽  
Sleep Onset ◽  
Off Label Use ◽  
Off Label ◽  
Obstructive Sleep ◽  
Patient Reported ◽  
Norepinephrine Reuptake Inhibitor ◽  
Idiopathic Hypersomnia ◽  
Resistant Patient ◽  
Label Use

Abstract Introduction Solriamfetol is a new daily dopamine and norepinephrine reuptake inhibitor indicated for improving daytime wakefulness in adults with obstructive sleep apnea (OSA) and narcolepsy. It was FDA-approved on 3/20/2019. In this report, we present a patient with refractory idiopathic hypersomnia (IHS) who benefitted from off-label use of solriamfetol at a private sleep center. Report of Case A 37-year-old non-obese female previously diagnosed with IHS vs narcolepsy, presented in 2015 with excessive daytime sleepiness since her mid-teens. She also had a history of periodic limb movement (PLM) and anxiety and trialed clonazepam, which caused daytime hangover effects. At her previous office, she began sodium oxybate but had psychiatric side effects, and was thus started on methylphenidate. Modafinil was added due to build-up of tolerance. Three separate polysomnographies (PSG) over 9 years revealed similar findings of mild snoring without OSA, PLM with variable arousals. Multiple sleep latency testing (MSLT) showed very rapid sleep onset <4 min and no sleep-onset REM periods. The patient never had cataplexy but occasional hypnogogic hallucinations and sleep paralysis. All studies to-date suggested IHS, less likely narcolepsy without cataplexy, and at her initial visit, the patient trialed armodafinil instead of modafinil, and methylphenidate was weaned down. When seen again in 2017, the patient reported persistent daytime sleepiness on methylphenidate and modafinil (PSG-MSLT showed sleep latencies ~3.5 min on 5/5 nap opportunities), without cataplexy. When seen 9/2019, patient continued to have daytime sleepiness and fatigue. She was then weaned off methylphenidate and modafinil, and started on solriamfetol. Since then, she has been doing well solely on solriamfetol 75mg BID. Conclusion Off-label use of solriamfetol for IHS has been demonstrated to be effective in a treatment-resistant patient at a private sleep center. More data and further discussion in support of its off-label use are warranted for this patient population.

scholarly journals Rare Case of Late-Onset Narcolepsy Type 1

2020 ◽  
Vol 12 (3) ◽  
pp. 428-432
Author(s):  
Petra Kovalská ◽  
Simona Dostálová ◽  
Hana Machová ◽  
Petra Nytrová ◽  
Eszter Maurovich Horvat ◽  
...  
Keyword(s):  
Rem Sleep ◽  
Daytime Sleepiness ◽  
Sleep Latency ◽  
Sleep Onset ◽  
Rem Sleep Behavior Disorder ◽  
Behavior Disorder ◽  
Elderly Subjects ◽  
Apnea Hypopnea Index ◽  
Sleep Behavior

A 69-year-old male developed symptoms typical of the diagnosis of narcolepsy type 1 without any previous triggering events. First, daytime sleepiness occurred, soon followed by cataplexy. Nocturnal polysomnography revealed rapid eye movement (REM) sleep behavior disorder, a apnea-hypopnea index of 25.8 events/h, and no sleep-onset REM. Multiple Sleep Latency Test showed a mean sleep latency of 2.1 min and REM sleep in 3 tests. HLA DQB1*06:02 was positive and hypocretin-1 in cerebrospinal fluid unmeasurable. A treatment with 50 mg clomipramine controlled the cataplexy; excessive daytime sleepiness was sufficiently managed by repeated naps. The administration of 0.25 mg of clonazepam subjectively improved REM sleep behavior disorder. Bilevel Positive Airway Pressure improved the apnea-hypopnea index without important influence on sleepiness. Our unique case demonstrates that even elderly subjects can develop narcolepsy type 1.

scholarly journals 1227 A CASE OF A FEARFUL SLUMBER

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A468-A469
Author(s):  
Aristotle Asis ◽  
Annise Georgette Wilson ◽  
Philip Mani Alapat
Keyword(s):  
Sleep Latency ◽  
Sleep Onset ◽  
Therapeutic Interventions ◽  
Apnea Hypopnea Index ◽  
Sleep Paralysis ◽  
Obstructive Sleep ◽  
Respiratory Disturbance ◽  
Fear And Anxiety ◽  
Daytime Function ◽  
Isolated Sleep Paralysis

Abstract Introduction Isolated sleep paralysis (ISP) occurs when rapid eye movement (REM)-based atonia intrudes into wakefulness, outside the context of narcolepsy, substance abuse, mental disorder or other medical conditions. No “gold standard” assessment and diagnostic instrument currently exists. Report of Case A 63-year old female with hypersomnia and positive airway pressure (PAP)-controlled obstructive sleep apnea was referred for recurrent episodes of paralysis during sleep-wake transitions, lasting 15-20 seconds, occurring every 2-3 years since the age of 15, and associated with fear and anxiety. Episodes were more frequent in the last 2 years after significant sleep deprivation and starting a weight loss supplement, BIO-X4, which contains green tea and probiotics. No cataplexy, or history of traumatic brain injury and stroke were identified. Epworth Sleepiness Scale score was 14 on armodafinil. Reported sleep amounts were regularly scheduled 6-7-hour periods, with no suggestion of circadian dysfunction. In 2016, polysomnogram showed Apnea-Hypopnea index of 2.6/hour, Respiratory Disturbance Index of 13.8/hour with oxygen nadir of 92% in the setting of hypersomnia. Continuous PAP of 11 cmH20 was initiated after a successful titration with controlled residual AHI during follow-ups. Multiple Sleep Latency Test during the same time revealed mean sleep latency of 5.5 minutes and no sleep-onset REM with 5 naps. Brain imaging and electroencephalogram were both normal as well as drug panel, blood counts, metabolic profile and thyroid function. Decreased episodes and severity of recurrent ISP were reported after discontinuation of the supplement. Apart from anxiety related to the episodes, the patient denied any interference with daytime function. Conclusion Isolated sleep paralysis is an important sleep disorder that requires proper evaluation to rule out competing diagnoses and consideration of therapeutic interventions. Likely associated with a lack of understanding and available literature, the prevalence in the general population is likely higher than what is currently perceived.

839 Not Your Everyday Daytime Sleepiness: Two Peas in a Pod

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A327-A327
Author(s):  
Elena Stuewe ◽  
Peter Ostrow ◽  
Aarti Grover ◽  
Greg Schumaker ◽  
Joel Oster ◽  
...  
Keyword(s):  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Sleep Latency ◽  
Sleep Onset ◽  
Prior History ◽  
Adequate Treatment ◽  
Related Disorder ◽  
Obstructive Sleep ◽  
History Of

Abstract Introduction Obstructive sleep apnea (OSA) and narcolepsy are both causes of excessive daytime sleepiness (EDS). OSA is a more prevalent diagnosis, but it can coexist with narcolepsy and confound diagnosis. We present a case of a delayed diagnosis of type 2 narcolepsy in a patient with known OSA. Report of case(s) A 31-year-old man with depression treated with sertraline and prior history of severe OSA diagnosed at an outside facility presented to our clinic for residual excessive daytime sleepiness. He demonstrated adequate adherence to continuous positive airway pressure (CPAP) of 13 cmH2O over a period of one year, good sleep hygiene and adequate sleep duration. He reported vivid dreams and sleep paralysis in the past, but none recently. There was no history of a delayed sleep phase. He denied hypnagogic or hypnopompic hallucinations or cataplexy. An in-lab polysomnogram (PSG) followed by multiple sleep latency test (MSLT) was ordered for further evaluation. Sertraline was held 2 weeks prior to the study. Overnight PSG on CPAP showed adequate treatment of OSA on CPAP pressures of 13–16 cmH2O. MSLT showed 3/5 sleep-onset rapid eye movement periods with a mean sleep latency of 5.8 minutes. A diagnosis of coexisting type 2 narcolepsy was made. Treatment was initiated with modafinil; however, his symptoms of EDS persisted and he was changed to methylphenidate with subsequent improvement. Conclusion The case above highlights the importance of maintaining a broad differential when investigating the etiology of EDS. In particular, patients with narcolepsy often experience a significant delay between onset of symptoms and receiving a diagnosis. Diagnosis can be confounded by a lack of classic symptoms and/or the presence of another sleep-related breathing disorder, as in the patient above. Residual EDS can be seen in patients with adequately treated OSA. There is sparse data regarding the co-prevalence of narcolepsy as the etiology of residual EDS in adequately treated OSA. Patients should still be screened for symptoms suggestive of narcolepsy. Persistence of EDS symptoms in young adults with adequately treated OSA should raise suspicion for another sleep-related disorder and merits further investigation. Support (if any):

Improvement in Obstructive Sleep Apnea (OSA) in Super Morbidly Obese Patients After Bariatric Surgery

2020 ◽  
Vol 103 (8) ◽  
pp. 725-728
Keyword(s):  
Bariatric Surgery ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Lifestyle Modification ◽  
Apnea Hypopnea Index ◽  
Morbidly Obese ◽  
Obese Patients ◽  
Obstructive Sleep ◽  
Objective Evidence

Background: Lifestyle modification is the mainstay therapy for obese patients with obstructive sleep apnea (OSA). However, most of these patients are unable to lose the necessary weight, and bariatric surgery (BS) has been proven to be an effective modality in selected cases. Objective: To provide objective evidence that BS can improve OSA severity. Materials and Methods: A prospective study was conducted in super morbidly obese patients (body mass index [BMI] greater than 40 kg/m² or BMI greater than 35 kg/m² with uncontrolled comorbidities) scheduled for BS. Polysomnography (PSG) was performed for preoperative assessment and OSA was treated accordingly. After successful surgery, patients were invited to perform follow-up PSG at 3, 6, and 12 months. Results: Twenty-four patients with a mean age of 35.0±14.0 years were enrolled. After a mean follow-up period of 7.8±3.4 months, the mean BMI, Epworth sleepiness scale (ESS), and apnea-hypopnea index (AHI) significantly decreased from 51.6±8.7 to 38.2±6.8 kg/m² (p<0.001), from 8.7±5.9 to 4.7±3.5 (p=0.003), and from 87.6±38.9 to 28.5±21.5 events/hour (p<0.001), respectively. Conclusion: BS was shown to dramatically improve clinical and sleep parameters in super morbidly obese patients. Keywords: Morbid obesity, Bariatric surgery, Obstructive sleep apnea (OSA)

447 Cost-Effectiveness of a 3-Year Tele-OSA Intervention

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A177-A177
Author(s):  
Jaejin An ◽  
Dennis Hwang ◽  
Jiaxiao Shi ◽  
Amy Sawyer ◽  
Aiyu Chen ◽  
...  
Keyword(s):  
Cost Effectiveness ◽  
Willingness To Pay ◽  
Incremental Cost ◽  
Economic Benefits ◽  
Small Sample ◽  
Apnea Hypopnea Index ◽  
Obstructive Sleep ◽  
Group 2 ◽  
The Cost

Abstract Introduction Trial-based tele-obstructive sleep apnea (OSA) cost-effectiveness analyses have often been inconclusive due to small sample sizes and short follow-up. In this study, we report the cost-effectiveness of Tele-OSA using a larger sample from a 3-month trial that was augmented with 2.75 additional years of epidemiologic follow-up. Methods The Tele-OSA study was a 3-month randomized trial conducted in Kaiser Permanente Southern California that demonstrated improved adherence in patients receiving automated feedback messaging regarding their positive airway pressure (PAP) use when compared to usual care. At the end of the 3 months, participants in the intervention group pseudo-randomly either stopped or continued receiving messaging. This analysis included those participants who had moderate-severe OSA (Apnea Hypopnea Index &gt;=15) and compared the cost-effectiveness of 3 groups: 1) no messaging, 2) messaging for 3 months only, and 3) messaging for 3 years. Costs were derived by multiplying medical service use from electronic medical records times costs from Federal fee schedules. Effects were average nightly hours of PAP use. We report the incremental cost per incremental hour of PAP use as well as the fraction acceptable. Results We included 256 patients with moderate-severe OSA (Group 1, n=132; Group 2, n=79; Group 3, n=45). Group 2, which received the intervention for 3 months only, had the highest costs and fewest hours of use and was dominated by the other two groups. Average 1-year costs for groups 1 and 3 were $6035 (SE, $477) and $6154 (SE, $575), respectively; average nightly hours of PAP use were 3.07 (SE, 0.23) and 4.09 (SE, 0.42). Compared to no messaging, messaging for 3 years had an incremental cost ($119, p=0.86) per incremental hour of use (1.02, p=0.03) of $117. For a willingness-to-pay (WTP) of $500 per year ($1.37/night), 3-year messaging has a 70% chance of being acceptable. Conclusion Long-term Tele-OSA messaging was more effective than no messaging for PAP use outcomes but also highly likely cost-effective with an acceptable willingness-to-pay threshold. Epidemiologic evidence suggests that this greater use will yield both clinical and additional economic benefits. Support (if any) Tele-OSA study was supported by the AASM Foundation SRA Grant #: 104-SR-13

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