1255 Previously unknown ventricular arrhythmia in a globally delayed pediatric patient with tuberous sclerosis

Abstract Introduction We present a case of previously unknown ventricular ectopy in a pediatric patient who is globally delayed. As the patient is non-verbal, it is possible the patient may have ultimately experienced heart failure or a lethal arrhythmia were it not for the polysomnogram (PSG). Report of Case A four year old female with Tuberous Sclerosis (TS) was referred to our pediatric sleep center for snoring. Her past medical history includes intracardiac tumors, daily seizures, and global developmental delay. Initial PSG showed moderate obstructive sleep apnea defined by an obstructive Apnea-Hypopnea Index of 6.89 and no cardiac arrhythmias. Positive airway pressure titration study was performed one year later. Premature ventricular contractions were noticed during the setup while patient was awake. Intermittent couplets and triplets occurred during sleep as well as a prolonged run of bigeminy that initiated during a period of wake after sleep onset and persisted into non-rapid eye movement sleep. She was escorted to the emergency room where a 12-lead electrocardiogram (EKG) showed sinus rhythm with non-specific interventricular conduction delay and right ventricular hypertrophy. She was discharged with a Holter monitor and subsequent analyses was concerning for frequent ventricular couplets and non-sustained runs of ventricular tachycardia. She required admission to initiate anti-arrhythmic therapy. Imaging revealed stable intracardiac tumors, but revealed scarring within sites of intramyocardial lesions. She failed different anti-arrhythmic agents before settling with amiodarone. Conclusion Sleep disordered breathing (SDB) can cause or worsen cardiac arrhythmias. This case highlights the importance of routine surveillance in patients with both known cardiac disease who have or are at risk of having significant cardiac arrhythmias and suspected SDB. Additionally, current guidelines for TS patients recommend EKG once every 3 to 5 years. This case may also highlight the importance of increased cardiac surveillance in this population group.

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Cardiac arrhythmias and conduction disturbances in the obstructive sleep apnea syndrome

In a good rythm ◽

10.5604/01.3001.0012.0392 ◽

2018 ◽

Vol 2 (47) ◽

pp. 10-15

Author(s):

Danuta Łoboda ◽

Karolina Simionescu ◽

Anna Szajerska-Kurasiewicz ◽

Dorota Lasyk ◽

Grzegorz Jarosiński ◽

...

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Cardiac Arrhythmias ◽

Sleep Apnea Syndrome ◽

The Body ◽

Apnea Hypopnea Index ◽

Premature Ventricular Contractions ◽

Mortality And Morbidity ◽

Conduction Disturbances ◽

Obstructive Sleep

Cardiac arrhythmias during sleep are reported in almost half of the population suffering from obstructive sleep apnea (OSA). The most common are bradyarrhythmias and atrial fibrillation whereas premature ventricular contractions and nonsustained ventricular tachycardia are less frequent. The risk of arrhythmia is proportional to the body mass index (BMI), number of respiratory events per hour of sleep described with apnea/hypopnea index (AHI) and the level of oxygen desaturation during these episodes. Continuous positive airway pressure (CPAP) treatment in OSA reduces the incidence of cardiac arrhythmias therefore reduce mortality and morbidity from cardiovascular disease.

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Randomized controlled trial of an integrated approach to treating insomnia and improving the use of positive airway pressure therapy in veterans with comorbid insomnia disorder and obstructive sleep apnea

SLEEP ◽

10.1093/sleep/zsaa235 ◽

2020 ◽

Author(s):

Cathy A Alessi ◽

Constance H Fung ◽

Joseph M Dzierzewski ◽

Lavinia Fiorentino ◽

Carl Stepnowsky ◽

...

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Airway Pressure ◽

Positive Airway Pressure ◽

Sleep Onset ◽

Apnea Hypopnea Index ◽

Sleep Onset Latency ◽

Pressure Therapy ◽

Comorbid Insomnia ◽

Obstructive Sleep

Abstract Study Objectives Cognitive behavioral therapy for insomnia (CBTI) for comorbid insomnia and obstructive sleep apnea (OSA) has had mixed results. We integrated CBTI with a positive airway pressure (PAP) adherence program and tested effects on sleep and PAP use. Methods 125 veterans (mean age 63.2, 96% men, 39% non-Hispanic white, 26% black/African American, 18% Hispanic/Latino) with comorbid insomnia and newly-diagnosed OSA (apnea-hypopnea index ≥ 15) were randomized to 5-weekly sessions integrating CBTI with a PAP adherence program provided by a “sleep coach” (with behavioral sleep medicine supervision), or 5-weekly sleep education control sessions. Participants and assessment staff were blinded to group assignment. Outcomes (baseline, 3 and 6 months) included Pittsburgh Sleep Quality Index (PSQI), 7-day sleep diary (sleep onset latency [SOL-D], wake after sleep onset [WASO-D], sleep efficiency [SE-D]), 7-day actigraphy (SE-A), and objective PAP use (hours/night and nights ≥ 4 h). Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), and Functional Outcomes of Sleep Questionnaire-10 (FOSQ-10) were also collected. Results Compared to controls, intervention participants showed greater improvement (baseline to 3 and 6 months, respectively) in PSQI (−3.2 and −1.7), SOL-D (−16.2 and −15.5 minutes), SE-D (10.5% and 8.5%), SE-A (4.4% and 2.6%) and more 90-day PAP use (1.3 and 0.9 more hours/night, 17.4 and 11.3 more nights PAP ≥ 4 h). 90-day PAP use at 3 months was 3.2 and 1.9 h/night in intervention versus controls. Intervention participants also had greater improvements in ISI, ESS, and FOSQ-10 (all p < 0.05). Conclusions An intervention integrating CBTI with a PAP adherence program delivered by a supervised sleep coach improved sleep and PAP use in adults with comorbid insomnia and OSA. Trial Registration ClinicalTrials.gov Study name: Novel Treatment of Comorbid Insomnia and Sleep Apnea in Older Veterans URL: https://clinicaltrials.gov/ct2/results?cond=&term=NCT02027558&cntry=&state=&city=&dist= Registration: NCT02027558

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

SLEEP ◽

10.1093/sleep/zsab072.815 ◽

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):

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

SLEEP ◽

10.1093/sleep/zsab072.854 ◽

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):

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

SLEEP ◽

10.1093/sleep/zsab072.848 ◽

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):

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Abstract 14965: Atrial Conduction During Obstructive Sleep Apnea: Comparison of Stacked Versus Isolated Apnea Episodes

Circulation ◽

10.1161/circ.142.suppl_3.14965 ◽

2020 ◽

Vol 142 (Suppl_3) ◽

Author(s):

Krishan Patel ◽

Hussain Basrawala ◽

Pavan Reddy ◽

Edwin Valladares ◽

Vincent Grbach ◽

...

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

P Wave ◽

Conduction Delay ◽

Apnea Hypopnea Index ◽

Peripheral Oxygen Saturation ◽

Cardiovascular Comorbidities ◽

Obstructive Sleep ◽

Cost Efficient ◽

The Impact

Introduction: Obstructive sleep apnea (OSA) is associated with increased rates of atrial fibrillation (AF). Recent randomized data suggest that traditional scoring of OSA needs to evolve to improve cardiovascular outcomes. Traditional scoring of OSA does not fully reflect pathophysiological links between OSA and AF, particularly regarding OSA-induced prolongation of p-wave duration (PWD), which is the most powerful predictor of AF occurrence. Hypothesis: We hypothesized that OSA episodes that closely follow each other (serially stacked apneas, ssOSA) exert greater effect on PWD compared to isolated OSA (iOSA) episodes. Methods: Sleeping patients (adults with mild-moderate OSA and presence of both iOSA and ssOSA, but without other cardiovascular comorbidities) undergoing diagnostic polysomnography were recorded by continuous 8-lead ECG. iOSA was defined as OSA episodes with no other episode within 30 seconds. ssOSA consisted of ≥3 consecutive apneas with inter-OSA intervals <30 seconds. PWD was defined from onset of p-wave in any ECG lead to termination in any lead (measured by digital calipers, averaged over 3 beats from first half of OSA and 3 beats from second half of OSA). Wilcoxon rank-sum test was used. Results: We analyzed 208 OSA episodes (51.0% iOSA, 49.0% ssOSA) which occurred in 12 patients (7 women; age 63.1±11.5 years; apnea hypopnea index 16.8±5.4). PWD was longer during ssOSA compared to iOSA (median 117.7ms vs 109.6ms; p<0.0001). The following variables did not differ between ssOSA and iOSA: PR interval (p=0.3139), RR interval (p=0.7531), peripheral oxygen saturation (p=0.7776). Conclusions: The impact of OSA on atrial conduction delay is exacerbated by the phenomenon of OSA stacking, which seems independent of oxygen desaturation and heart rate. Stacking of OSA episodes may be an underused and cost-efficient variable in evaluating the severity of OSA and the effectiveness of OSA treatments with the ultimate goal of reducing occurrence of AF.

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0879 Outcomes of Adenotonsillectomy in Children with Down Syndrome and Obstructive Sleep Apnea

SLEEP ◽

10.1093/sleep/zsaa056.875 ◽

2020 ◽

Vol 43 (Supplement_1) ◽

pp. A335-A335

Author(s):

A Morello Gearhart ◽

B Gunaratnam ◽

E Senthilvel

Keyword(s):

Obstructive Sleep Apnea ◽

Down Syndrome ◽

Sleep Apnea ◽

Sleep Onset ◽

Sleep Efficiency ◽

Apnea Hypopnea Index ◽

P Value ◽

Children With Down Syndrome ◽

Arousal Index ◽

Obstructive Sleep

Abstract Introduction Obstructive sleep apnea (OSA) is highly prevalent in children with Down Syndrome (DS). The aim of this study was to assess the effectiveness of adenotonsillectomy (T&A) on polysomnographic parameters of children with DS. Methods Retrospective chart review of children with DS who underwent T&A between 2012-2019 was performed. Preoperative OSA severity was categorized by obstructive apnea-hypopnea index (OAHI): mild = 1-4.9 events/h; moderate = 5-9.9 events/h; severe ≥ 10 events/h. Results We identified 43 DS children with pre and post T&A polysomnographic data in a population of 162 DS patients. A total of 25 were male, mean age 5.1 years (± 3.8 years) and 56% Caucasians. Preoperative data showed 19% mild OSA, 30% moderate and 51% severe. Postoperatively, apnea-hypopnea index (AHI) normalized in 9.3%, 37.2% had mild OSA, 18.6% moderate and 34.9% severe. Overall, T&A resulted in significant improvement (p-value <0.05) in mean AHI, (18.51 ± 28.05 vs 11.72 ± 16.43), SaO2 nadir (80.00 ± 14.82 vs 85.51 ± 5.94), sleep efficiency (81.97 ± 11.15 vs 85.9 ± 8.28), arousal index (16.14 ± 10.23 vs 14.45 ± 12.34), and wake after sleep onset (67.19 ± 46.89 vs 50.55 ± 40.83) and no statistical difference (p-value >0.05) in end-tidal carbon dioxide (43.86 ± 9.56 vs 44.17 ± 3.78), Rapid Eye Movement (REM)% (15.86 ± 7.75 vs 15.92 ± 7.41), sleep latency (24.03 ± 34.39 vs 22.55 ± 21.11), and central apnea index (0.86 ± 1.38 vs 0.66 ± 0.82) in pre and post T&A data. There was no statistically significant difference in pre and post T&A polysomnographic parameters between 17 DS and 17 age and gender-matched non-DS control subjects. Conclusion Adenotonsillectomy resulted in improvement in AHI, oxygen desaturation nadir, sleep efficiency, arousal index and wake after sleep onset. However, a significant portion of children with DS continued to have moderate to severe OSA after T&A. Support None.

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Respiratory and Cardiovascular Parameters Evaluation in OSA Patients Treated with Mandibular Advancement Device

Applied Sciences ◽

10.3390/app10228175 ◽

2020 ◽

Vol 10 (22) ◽

pp. 8175

Author(s):

Ciavarella Domenico ◽

Tepedino Michele ◽

Burlon Giuseppe ◽

Ferrara Donatella ◽

Cazzolla Angela Pia ◽

...

Keyword(s):

Cardiac Arrhythmias ◽

Mandibular Advancement Device ◽

Mandibular Advancement ◽

Apnea Hypopnea Index ◽

Cardiovascular Parameters ◽

Cardiac Stress ◽

Cardiovascular Comorbidities ◽

Oxygen Desaturation Index ◽

Obstructive Sleep ◽

Important Sign

Obstructive sleep apnea (OSA) is associated with a number of cardiovascular comorbidities, including hypertension, heart rate (HR) alterations, cardiac arrhythmias, endothelial dysfunction and atherosclerosis. HR, in particular, is an important sign correlated with cardiac stress and survival. Previous investigations on the effects of mandibular advancement device (MAD) therapy on HR resulted in contradictory findings. The aim of the present retrospective cohort study was to evaluate the effects of MAD therapy with a fully customizable appliance on respiratory and cardiovascular parameters. Fifty adult consecutive cases with mild to severe OSA underwent split-night polysomnography (SN-PSG) at baseline (T0) and after three months of MAD treatment (T1), after appropriate titration. The apnea/hypopnea index (AHI), 4% oxygen desaturation index (ODI) and HR (average, minimum and maximum) values are recorded at T0 and at T1 and statistically compared. The AHI and ODI values improved after three months of MAD treatment. The minimum HR increased after treatment, while the maximum HR decreased after treatment. MAD treatment with a fully customizable appliance was effective in improving breathing and cardiovascular parameters in adult patients with mild to severe OSA.

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358 Daridorexant Improves Sleep in Patients with Mild/Moderate Obstructive Sleep Apnea

SLEEP ◽

10.1093/sleep/zsab072.357 ◽

2021 ◽

Vol 44 (Supplement_2) ◽

pp. A143-A143

Author(s):

Marie-Laure Boof ◽

Ingo Fietze ◽

Katharina Lederer ◽

Anne-Sophie Guern ◽

Vincent Lemoine ◽

...

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Sleep Duration ◽

Sleep Onset ◽

Sleep Architecture ◽

Sleep Stages ◽

Apnea Hypopnea Index ◽

Treatment Difference ◽

Obstructive Sleep ◽

Sleep Parameters

Abstract Introduction Daridorexant is a dual orexin receptor antagonist developed for the treatment of insomnia. The effect of the highest phase-3 dose of 50 mg daridorexant on nighttime respiratory function was evaluated in patients with mild/moderate obstructive sleep apnea (OSA). This study showed that repeated doses of daridorexant had no clinically meaningful effect on the apnea-hypopnea index (AHI) or on peripheral oxygen saturation. In the same study, the effect on objective sleep parameters was also explored by polysomnography (PSG). Methods In this randomized, double-blind, placebo-controlled, two-period, crossover study, daridorexant or placebo was administered in each period once daily for 5 consecutive nights to 28 patients. Treatment difference (daridorexant – placebo) for total sleep time (TST), latency to persistent sleep (LPS), and wake after sleep onset (WASO) was analyzed for Night 5 using linear mixed-effects modeling. In addition, sleep was further explored based on sleep duration during each hour of PSG recording, duration of the different sleep phases (rapid eye movement [REM], non-REM [including N1 to N3 sleep stages]), as well as number and mean/longest duration of awakenings. Results Of 28 patients enrolled, 25 completed the study and were included in the analysis (n=15/10 with mild/moderate OSA; mean [standard deviation] AHI: 16.3 [8.2] events/h). One patient had mild insomnia symptoms at baseline. Compared to placebo, daridorexant prolonged mean TST by 38.8 min (90% confidence interval: 19.7–57.9), shortened mean LPS by 17.2 min (-35.5–1.02), and reduced mean WASO by 31.0 min (-47.3 to 14.7). Sleep architecture was maintained as no treatment differences in the duration of the evaluated sleep stages were observed when normalized to TST. Sleep duration was prolonged in the second part of the night. mean and longest duration of awakenings were decreased by a mean (90% CI) of 2.0 min (-3.1 to 0.9) and 16.3 min (-24.1 to -8.6), respectively, without treatment difference for the total number of awakenings. Conclusion Daridorexant improved objective sleep parameters in patients with mild to moderate OSA without modifying sleep architecture. Support (if any) Funded by Idorsia Pharmaceuticals Ltd.

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852 Severe Central Sleep Apnea in a Patient with Cornelia de Lange Syndrome

SLEEP ◽

10.1093/sleep/zsab072.849 ◽

2021 ◽

Vol 44 (Supplement_2) ◽

pp. A331-A332

Author(s):

Aaron Willis ◽

Lacie Petitto ◽

Amee Revana

Keyword(s):

Sleep Apnea ◽

Sleep Problems ◽

Oropharyngeal Dysphagia ◽

Central Sleep Apnea ◽

Cornelia De Lange Syndrome ◽

Global Developmental Delay ◽

Apnea Hypopnea Index ◽

Bilevel Positive Airway Pressure ◽

Obstructive Sleep ◽

Cornelia De Lange

Abstract Introduction Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with characteristic facial dysmorphisms, upper airway structural abnormalities, and varying degrees of intellectual and neurologic deficits. Affected patients can have many sleep problems including chronic insomnia and obstructive sleep apnea; however, there is no literature indicating central sleep apnea as a common sleep disorder in this patient population. We describe a patient with CdLS with an unusual presentation of both severe obstructive and central sleep apnea. Report of case(s) The patient is a 12-year-old female with CdLS, global developmental delay, repaired bilateral cleft-palate, and oropharyngeal dysphagia. She was referred for diagnostic polysomnography for evaluation of snoring. Physical examination findings were significant for distinctive features of the head and face including microcephaly, micrognathia, and synophrys. Neurologically, the patient was non-verbal and wheelchair bound. Pre-evaluation screening indicated no concerns from the caregiver regarding problems with sleep initiation, maintenance, or daytime symptoms. Polysomnography (PSG) at age 7 years revealed severe obstructive and central sleep apnea with an apnea-hypopnea index (AHI) of 78.2/hr. The majority of these were central events (68.44/hr). There were no epileptiform foci recorded. Bilevel Positive Airway Pressure (BPAP) in Spontaneous/Timed (S/T) mode was titrated during the study which resolved all central events. Magnetic resonance imaging of the brain was obtained indicating mild hypoplasia of the corpus callosum. Since the initial PSG, 5 additional routine studies were conducted and progressive worsening of central sleep apnea was noted with the highest recorded AHI of 108.8/hr (central events: 81.4/hr). Apneic events were fairly managed with BPAP in ST mode. Conclusion Sleep-disordered breathing in CdLS is an increasingly diagnosed entity. While previous literature indicates airway obstruction as a common cause for sleep apnea in children with CdLS, our case suggests that clinicians should consider central causes of sleep apnea in these patients. Given the sub-clinical progression of sleep apnea in this case study, routine follow up PSGs should be considered. Further research is necessary to increase knowledge of the incidence and management of central sleep apnea in children with CdLS. Support (if any):

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