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Video Analyses of Sudden Unexplained Deaths in Toddlers

Gould, Laura; Reid, Codi-Ann; Rodriguez, Alcibiades J; Devinsky, Orrin; ,
BACKGROUND AND OBJECTIVES/OBJECTIVE:More than 2,900 US children aged younger than 4 years die from unknown causes each year, accounting for more than 219,000 life years lost annually. They are mostly sleep-related and unwitnessed with unremarkable autopsies, limiting our understanding of death mechanisms. We sought to understand potential mechanisms of death by evaluating videos of sudden deaths in toddlers. METHODS:In our registry of 301 sudden unexplained child deaths, a series of 7 consecutively enrolled cases with home video recordings of the child's last sleep period were independently assessed by 8 physicians for video quality, movement, and sound. RESULTS:Four boys and 3 girls (13-27 months at death) with terminal videos shared similar demographic features to the 293 other registry cases without video recordings. Five video recordings were continuous and 2 were triggered by sound or motion. Two lacked audio. All continuous recordings included a terminal convulsive event lasting 8-50 seconds; 4 children survived for >2.5 minutes postconvulsion. Among discontinuous videos, time lapses limited review; 1 suggested a convulsive event. Six were prone with face down, and 1 had autopsy evidence of airway obstruction. Primary cardiac arrhythmias were not supported; all 7 children had normal cardiac pathology and whole-exome sequencing identified no known cardiac disease variants. DISCUSSION/CONCLUSIONS:Audio-visual recordings in 7 toddlers with unexplained sudden deaths strongly implicate that deaths were related to convulsive seizures, suggesting that many unexplained sleep-related deaths may result from seizures.
PMID: 38175965
ISSN: 1526-632x
CID: 5628382

"Count on Sleep": an OSA awareness project update

Martin, Jennifer L; Rowley, James; Goel, Namni; Heller, H Craig; Gurubhagavatula, Indira; DelRosso, Lourdes M; Rodriguez, Alcibiades; Clark, Melissa; Rice-Conboy, Liz; ,
UNLABELLED:Obstructive sleep apnea (OSA) is a common, chronic sleep-related breathing disorder that affects approximately 12% of the US adult population. Greater public awareness of OSA is necessary to decrease the number of people with undiagnosed or untreated OSA and reduce the negative health consequences of unrecognized OSA. In 2021, the American Academy of Sleep Medicine initiated the "Count on Sleep" project in partnership with key stakeholders with the objective of raising the awareness of OSA among the public, health care providers, and public health officials. Four workgroups implemented strategies and completed tasks focused on increasing OSA awareness in their targeted areas to address the objectives of the project including (1) Public Awareness and Communications, (2) Provider Education, (3) Tool Development and Surveillance, and (4) a Strategic Planning workgroup that coordinated efforts across the project. Over the first 2 years, workgroups made substantial progress toward project goals including holding "listening sessions" with representatives of communities disproportionately affected by OSA and its consequences, developing resources for primary care providers that can be easily accessed and used in practice, and developing a brief survey for use in estimating and tracking OSA risk across the population. Over the first 2 project years, workgroups made significant progress in advancing efforts to increase awareness of OSA in US communities. The third year of the project will focus on dissemination of campaign materials and resources for all targeted groups, including the public, health care professionals, and public health professionals. CITATION/BACKGROUND:2024;20(2):303-307.
PMID: 37861414
ISSN: 1550-9397
CID: 5633022

Differential diagnosis of sleep laughter: A case report and literature review [Case Report]

Eichelberger, Hillary; Lindo, Ryan O; Rodriguez, Alcibiades J
Sleep laughter is a relatively common phenomenon. It is classically seen during REM sleep, which is associated with dreams, and may be a component of REM sleep without atonia (RWA) as seen in cases of REM sleep behavior disorder (RBD). However, repetitive laughter episodes during NREM or during sleep-wake transition have not been described in the literature. We present a case of paroxysmal laughter out of drowsiness and NREM sleep, occurring almost every night, prompting evaluation for a possible seizure disorder. Multiple tests were unrevealing, including brain magnetic resonance imaging, polysomnogram, multiple sleep latency test and electroencephalogram. However, despite the lack of diagnostic certainty, this case provoked a discussion of key factors distinguishing parasomnia from seizure, which is useful for all physicians who may be faced with a case of unusual behavior in sleep. This case highlights the challenges that are encountered when trying to classify certain unusual sleep-related paroxysmal events.
PMID: 37647714
ISSN: 1878-5506
CID: 5618332

Electrophysiological changes in sleep during childhood

Chapter by: Rodriguez, Alcibiades J.
in: Encyclopedia of Sleep and Circadian Rhythms: Volume 1-6, Second Edition by
[S.l.] : Elsevier, 2023
pp. 555-558
ISBN: 9780323910941
CID: 5461442

A young woman with sleep-disruptive "twitching"

Nair, Sunil S; Lee, Karen; Rodriguez, Alcibiades J
PMID: 34398744
ISSN: 1550-9397
CID: 5107712

Patient characteristics and compliance with positive airway pressure therapy during New York City's 2020 COVID-19 pandemic stay-at-home orders: The NYU comprehensive epilepsy center-sleep center telemedicine experience

Nair, Sunil S; Rodriguez, Alcibiades J
Objectives/UNASSIGNED:We sought to evaluate the success of telemedicine during New York City's COVID-19 pandemic stay-at-home period, and understand the distribution of sleep complaints seen. We also compared positive airway pressure (PAP) therapy compliance for a random patient sample to determine whether the pandemic influenced PAP usage. Methods/UNASSIGNED:Encounters from the stay-at-home period were reviewed for patient characteristics and clinician impressions, and were compared to administrative data from the prior 2.5 months ("control" period). PAP compliance was compared between the periods for a randomly selected group of forty patients. Results/UNASSIGNED:The telemedicine show rate was 89.37%. Sleep apnea then insomnia were the predominant diagnoses. Insomnia complaints were higher during the stay-at-home period. PAP compliance and AHI were similar between the periods. Conclusions/UNASSIGNED:Sleep apnea and insomnia were common complaints; insomnia was significantly more common during the pandemic. PAP compliance was similar between the two periods for a randomly selected cohort.
PMID: 35673621
ISSN: 2667-3436
CID: 5283162

The Surgical Treatment of Robin Sequence: Neonatal Mandibular Distraction Osteogenesis in the Unfavorable Patient

Shen, Chen; Wang, Maxime M; Eisemann, Bradley T; Rodriguez, Alcibiades J; Rickert, Scott M; Flores, Roberto L
INTRODUCTION/BACKGROUND:Neonates with severe Pierre Robin sequence (PRS) can be treated by mandibular distraction osteogenesis (MDO), tongue-lip adhesion, or tracheostomy; however, there is an active debate regarding the indications of MDO in this patient population. Published algorithms identify tracheomalacia, bronchomalacia, laryngomalacia, hypotonic syndromes, and central sleep apnea as contraindications for MDO and indications for tracheostomy, but these comorbidities may exist along a spectrum of severity. The authors propose that appropriately selected neonates with PRS who concurrently express 1 or more of these traditional contraindications may be successfully treated with MDO. METHODS:The authors performed a 5-year retrospective chart review of all neonates who underwent MDO for treatment of severe PRS. All patients expressed a comorbidity previously identified as an indication for tracheostomy. Pre- and postoperative characteristics were recorded. Apnea/hypopnea index (AHI) before and after MDO were compared using 2-tailed repeated measures t-test. RESULTS:The authors identified 12 patients with severe PRS and conditions associated with contraindications to MDO: 9 (75.0%) patients had laryngomalacia, 6 (50.0%) patients had tracheomalacia, 2 (16.6%) patients had bronchomalacia, 1 (8.3%) patient had central sleep apnea, and 3 (25.0%) patients had hypotonia. Five (41.7%) patients underwent concurrent gastrostomy tube placement due to feeding insufficiency. Average birthweight was 3.0 kg. Average pre-op AHI was 34.8. Average post-op AHI was 7.3. All patients successfully underwent MDO with avoidance of tracheostomy. CONCLUSIONS:By employing an interdisciplinary evaluation of patient candidacy, MDO can safely and effectively treat upper airway obstruction and avoid tracheostomy in higher-risk neonatal patients with traditional indications for tracheostomy.
PMID: 34705382
ISSN: 1536-3732
CID: 5038922

Continuous EEG findings in patients with COVID-19 infection admitted to a New York academic hospital system

Pellinen, Jacob; Carroll, Elizabeth; Friedman, Daniel; Boffa, Michael; Dugan, Patricia; Friedman, David E; Gazzola, Deana; Jongeling, Amy; Rodriguez, Alcibiades J; Holmes, Manisha
OBJECTIVE:There is evidence for central nervous system complications of coronavirus disease 2019 (COVID-19) infection, including encephalopathy. Encephalopathy caused by or arising from seizures, especially nonconvulsive seizures (NCS), often requires electroencephalography (EEG) monitoring for diagnosis. The prevalence of seizures and other EEG abnormalities among COVID-19-infected patients is unknown. METHODS:Medical records and EEG studies of patients hospitalized with confirmed COVID-19 infections over a 2-month period at a single US academic health system (four hospitals) were reviewed to describe the distribution of EEG findings including epileptiform abnormalities (seizures, periodic discharges, or nonperiodic epileptiform discharges). Factors including demographics, remote and acute brain injury, prior history of epilepsy, preceding seizures, critical illness severity scores, and interleukin 6 (IL-6) levels were compared to EEG findings to identify predictors of epileptiform EEG abnormalities. RESULTS:Of 111 patients monitored, most were male (71%), middle-aged or older (median age 64 years), admitted to an intensive care unit (ICU; 77%), and comatose (70%). Excluding 11 patients monitored after cardiac arrest, the most frequent EEG finding was moderate generalized slowing (57%), but epileptiform findings were observed in 30% and seizures in 7% (4% with NCS). Three patients with EEG seizures did not have epilepsy or evidence of acute or remote brain injury, although all had clinical seizures prior to EEG. Only having epilepsy (odds ratio [OR] 5.4, 95% confidence interval [CI] 1.4-21) or seizure(s) prior to EEG (OR 4.8, 95% CI 1.7-13) was independently associated with epileptiform EEG findings. SIGNIFICANCE/CONCLUSIONS:Our study supports growing evidence that COVID-19 can affect the central nervous system, although seizures are unlikely a common cause of encephalopathy. Seizures and epileptiform activity on EEG occurred infrequently, and having a history of epilepsy or seizure(s) prior to EEG testing was predictive of epileptiform findings. This has important implications for triaging EEG testing in this population.
PMID: 32875578
ISSN: 1528-1167
CID: 4590162

Sleep-Disordered Breathing and Airway Assessment Using Polysomnography in Pediatric Patients With Craniofacial Disorders

Bekisz, Jonathan M; Wang, Maxime M; Rickert, Scott M; Rodriguez, Alcibiades J; Flores, Roberto L
Children with cleft and craniofacial conditions commonly present with concurrent airway anomalies, which often manifest as sleep disordered breathing. Craniofacial surgeons and members of the multidisciplinary team involved in the care of these patients should appreciate and understand the scope of airway pathology as well as the proper means of airway assessment. This review article details the prevalence and assessment of sleep disordered breathing in patients with craniofacial anomalies, with emphasis on indications, limitations, and interpretation of polysomnography.
PMID: 32049904
ISSN: 1536-3732
CID: 4304462

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations

Kazachkov, Mikhail; Palma, Jose-Alberto; Norcliffe-Kaufmann, Lucy; Bar-Aluma, Bat-El; Spalink, Christy L; Barnes, Erin P; Amoroso, Nancy E; Balou, Stamatela M; Bess, Shay; Chopra, Arun; Condos, Rany; Efrati, Ori; Fitzgerald, Kathryn; Fridman, David; Goldenberg, Ronald M; Goldhaber, Ayelet; Kaufman, David A; Kothare, Sanjeev V; Levine, Jeremiah; Levy, Joseph; Lubinsky, Anthony S; Maayan, Channa; Moy, Libia C; Rivera, Pedro J; Rodriguez, Alcibiades J; Sokol, Gil; Sloane, Mark F; Tan, Tina; Kaufmann, Horacio
BACKGROUND:Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. METHODS:We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. RESULTS:Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. CONCLUSIONS:Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.
PMID: 30053970
ISSN: 1532-3064
CID: 3216612