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

INTRODUCTION: 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.

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

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: 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.

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

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.

Video Analyses of Sudden Unexplained Deaths in Toddlers.

BACKGROUND AND OBJECTIVES: 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: 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.

Differential diagnosis of sleep laughter: A case report and literature review.

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.

Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings.

OBJECTIVE: Panayiotopoulos syndrome is a benign idiopathic childhood epilepsy characterized by altered autonomic activity at seizure onset. METHODS: Three siblings with Panayiotopoulos syndrome underwent 24-hour EEG recording and head-up tilt testing with continuous blood pressure and RR interval monitoring. Plasma catecholamines and vasopressin were measured while supine, upright, and during a typical seizure. RESULTS: Patient 1, a 12-year-old girl, had a history of involuntary lacrimation, abdominal pain, and recurrent episodes of loss of muscle tone and unresponsiveness followed by somnolence. Her EEG revealed bilateral frontotemporal spikes. Patient 2, a 10-year-old boy, had episodic headaches with pinpoint pupils, skin flushing of the face, trunk, and extremities, purple discoloration of hands and feet, diaphoresis, nausea, and vomiting. Tilt testing triggered a typical seizure after 9 minutes; there was a small increase in blood pressure (+5/4 mm Hg, systolic/diastolic) and pronounced increases in heart rate (+59 bpm) and norepinephrine (+242 pg/mL), epinephrine (+175 pg/mL), and vasopressin (+22.1 pg/mL) plasma concentrations. Serum glucose was elevated (206 mg/dL). His EEG revealed right temporal and parietal spikes. Patient 3, an 8-year-old boy, had a history of restless legs at night, enuresis, night terrors, visual hallucinations, cyclic abdominal pain, and nausea. His EEG showed bitemporal spikes. CONCLUSION: Hypertension, tachycardia, and the release of vasopressin suggest activation of the central autonomic network during seizures in familial Panayiotopoulos syndrome. These autonomic and neuroendocrine features may be useful in the diagnosis and may have therapeutic implications.

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.

Objectives: 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: 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: 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: 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.

The interactions between sleep and epilepsy.

The interactions between sleep and epilepsy have been recognized for centuries. The electroencephalogram and more recently the polysomnogram have helped us understand these interactions. Certain epilepsy syndromes are more common during sleep, and frequently a sleep disorder is misdiagnosed as epilepsy. Management of epilepsy includes improvements in sleep quality and quantity, and aggressive treatment of epilepsy has a positive impact on sleep disorders.

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

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.

Electroencephalographic characteristics of patients infected with west nile virus.

SUMMARY: : The EEG is helpful in the evaluation of patients with altered mental status and can provide clues for the underlying cause of certain entities. There are few descriptions of the EEG findings in patients with West Nile virus (WNV) infection. We describe the clinical presentation as well as the electroencephalographic findings in five patients with WNV encephalitis. Review of the records of all cases of WNV infection seen at the Mayo Clinic from 1999 to 2003, in which an EEG had been performed. Five patients with WNV encephalitis, in whom an EEG was performed, were found. All the patients had altered mental status and the EEG showed moderate to severe degrees of generalized slowing. Three of the patients had triphasic waves on the EEG. The patients did not have any metabolic disorder or electrolyte abnormalities that could account for these findings. EEG findings in WNV are consistent with an encephalopathic pattern and show varying degrees of generalized slow wave abnormalities and in some cases triphasic waves.

Temporal lobe seizure semiology during wakefulness and sleep.

We used regression analysis to compare the semiologic features of temporal lobe seizures that occur during sleep (TLS-S) and wake (TLS-W) in the same patient. Most semiologic features correctly lateralized seizure activity during either sleep or wake. No significant differences were found between TLS-S and TLS-W in the 18 semiologic features analyzed. The diagnostic value of TLS-S semiology is similar to that of TLS-W semiology.

EEG changes in a patient with steroid-responsive encephalopathy associated with antibodies to thyroperoxidase (SREAT, Hashimoto's encephalopathy).

A 56-year-old woman presented with an acute confusional state and moderate global aphasia. Thyroperoxidase antibody level was elevated (3,890 IU/mL) and SREAT was diagnosed. MRI findings were normal. Cerebrospinal fluid examination revealed only a mildly increased protein. The initial electroencephalogram EEG showed slowing and markedly decreased amplitude over the left hemisphere and left temporal sharp waves. An EEG performed after treatment with intravenous steroids showed a significant improvement of the background slowing, which correlated with clinical improvement. One week later, the patient had an episode of forced head-turning and fencing posture to the right. The EEG shortly afterward showed slowing and a decreased amplitude over the right hemisphere. Continuous EEG monitoring was performed at the time of steroid treatment. Again, there was a significant improvement of the EEG after this treatment that correlated with the clinical condition. SREAT is characterized by fluctuations in mental status and variable EEG findings. These patients often show an excellent clinical improvement to immunosuppressive therapy, including corticosteroids. This case report documents the dramatic clinical and EEG improvement with steroid therapy.

Trastornos del sueño en pacientes con enfermedad de Parkinson / Sleep disorders in patients with Parkinson's disease

Objetivo: Evaluar la frecuencia de presentación de los trastornos del sueño según edad, sexo y tiempo de evolución.Métodos: Se realizó un estudio descriptivo de corte transversal por medio de una entrevista, examen clínico y estudio de polisomnografía a 77 pacientes con diagnóstico de enfermedadde Parkinson, remitidos al Centro Internacional de Restauración Neurológica, La Habana, Cuba, en el periodo comprendido entre septiembre de 2014 a enero de 2018. Se evaluóla edad, sexo y el tiempo de evolución de la enfermedad de Parkinson en función de los trastornos del sueño diagnosticados por polisomnografía. Se empleó la estadística descriptiva, así como el análisis no paramétrico (Kruskal-Wallis).Resultados: La evaluación mostró resultados dentro de parámetros normales en 6,49 Por ciento de los pacientes, trastorno del comportamiento del sueño de movimientos oculares rápidos en 29,87 Por ciento, insomnio en 29,87 Por ciento (principalmente, el tipo de mantenimiento del sueño),síndrome de apnea obstructiva del sueño en 25,97 Por ciento y el síndrome de piernas inquietas asociado con el movimiento periódico de las piernas durante el sueño en 7,79 Por ciento. Estos trastornos presentaron un comportamiento similar entre ambos sexos, así como una tendencia a empeorar con la edad y el tiempo de evolución.Conclusiones: Se detectó una alta prevalencia de trastornos del sueño en pacientes con enfermedad de Parkinson, los cuales no reflejan variaciones de acuerdo con el sexo; sin embargo, fueron más frecuentes en los pacientes de mayor edad o de mayor tiempo deevolución(AU)

Objective: To evaluate the frequency of sleep disorders occurrence according to age, sex and period of evolution.Methods: A descriptive cross-sectional study was conducted through interview, clinical examination and polysomnography study of 77 patients diagnosed with Parkinson's disease,these subjects were referred to the International Center for Neurological Restoration, Havana, Cuba, from September 2014 to January 2018. Age, sex, and evolution time of Parkinson's disease were evaluated based on sleep disorders diagnosed by polysomnography. Descriptive statistics were used, as well as non-parametric analysis (Kruskal-Wallis).Results: The evaluation showed results within normal parameters in 6.49 Per cent of the patients, rapid eye movement sleep behavior disorder in 29.87 Per cent, insomnia in 29.87 Per cent (mainly, type of sleep maintenance insomnia) , obstructive sleep apnea syndrome in 25.97 Per cent and restlesslegs syndrome associated with periodic movement of the legs during sleep in 7.79 Per cent. These disorders showed similar behavior in both sexes, as well as a tendency to worsen with ageand time of evolution.Conclusions: High prevalence of sleep disorders was detected in patients with Parkinson's disease, which do not reflect variations according to sex; however, they were more frequentin older patients or patients with a longer evolution period(AU)

First night effect analysis in a cohort of young children with autism spectrum disorder.

STUDY OBJECTIVES: To evaluate for the first night effect (FNE) in a group of young children with autism. DESIGN: Analysis of polysomnographic data from a 2-night sleep laboratory study. SETTING: Clinical Center of the National Institutes of Health. PATIENTS OR PARTICIPANTS: 15 children (aged 2-10 years) with a diagnosis of an ASD. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Polysomnographic analysis showed the presence of a FNE for wake after sleep onset minutes, stage 2, and sleep efficiency, but not for REM sleep parameters or TST. CONCLUSIONS: In this 2-night polysomnographic analysis of sleep stages in young children with autism, we did not find the expected second night increase in total sleep time or REM sleep percentage or a decrease in REM sleep latency. This lack of an FNE for TST and REM parameters suggests that a single-night polysomnogram may be sufficient to evaluate children with an ASD for TST or REM parameters.

Narcolepsy: clinical approach to etiology, diagnosis, and treatment.

Narcolepsy is a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. The pathologic hallmark is loss of hypocretin neurons in the hypothalamus likely triggered by environmental factors in a susceptible individual. Patients with narcolepsy, in addition to excessive daytime sleepiness, can present with cataplexy, sleep paralysis, sleep fragmentation, and hypnagogic/hypnopompic hallucinations. Approximately 60% to 90% of patients with narcolepsy have cataplexy, characterized by sudden loss of muscle tone. Only 15% of patients manifest all of these symptoms together. Narcolepsy can be misdiagnosed as a psychiatric disorder or even epilepsy. An appropriate clinical history, polysomnogram, Multiple Sleep Latency Test, and, at times, cerebrospinal fluid hypocretin levels are necessary for diagnosis. The treatment of narcolepsy is aimed toward the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with amphetamine-like or non-amphetamine-like stimulants. Cataplexy is treated with sodium oxybate, tricyclic antidepressants, or selective serotonin and norepinephrine reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with benzodiazepine hypnotics or sodium oxybate. Patients with narcolepsy should avoid sleep deprivation, sleep at regular hours, and, if possible, schedule routine napping.

An open label trial of donepezil for enhancement of rapid eye movement sleep in young children with autism spectrum disorders.

BACKGROUND: Rapid eye movement (REM) sleep is greatest in the developing brain, is driven by acetylcholine, and may represent a protected time for neuroplasticity. Recently published data from our lab observed that children with autism spent significantly less time in this state during a single night recording than did typically developing children and those with developmental delay without autism. The objective of this study was to determine whether or not donepezil can increase the REM % in children with diagnosed autism spectrum disorder (ASD) found to have REM % values of at least two standard deviations below expected for age. METHODS: Five subjects found to have an ASD (ages 2.5-6.9 years) and demonstrated deficits in REM sleep compared with within-lab controls were enrolled in a dose finding study of donepezil. Each subject was examined by polysomnography for REM sleep augmentation after drug administration. RESULTS: REM sleep as a percentage of Total Sleep Time was increased significantly and REM latency was decreased significantly after drug administration in all subjects. No other observed sleep parameter was changed significantly. CONCLUSIONS: Donepezil can increase the amount of time that children with an ASD spend in the REM sleep state. A double-blind, placebo-controlled trial is needed to assess the association between REM sleep augmentation and learning, cognition, and behavior in such children.

Rapid eye movement sleep percentage in children with autism compared with children with developmental delay and typical development.

OBJECTIVE: To compare objective polysomnographic parameters between 3 cohorts: children with autism, typical development, and developmental delay without autism. DESIGN: Overnight polysomnographic recordings were scored for sleep architecture according to American Academy of Sleep Medicine criteria by a board-certified sleep medicine specialist blind to diagnosis for studies collected between July 2006 and September 2009. SETTING: Subjects were evaluated in the pediatric ward in the Clinical Research Center of the National Institutes of Health. PARTICIPANTS: First 60 consecutive children with autism, 15 with typical development, and 13 with developmental delay matched for nonverbal IQ to the autism group, ranging in age from 2 to 13 years, selected without regard to the presence or absence of sleep problem behavior. MAIN OUTCOME MEASURES: Total sleep time, latencies to non-rapid eye movement (REM) and REM sleep, and percentages of total sleep time for stages 1 and 2 sleep, slow-wave sleep, and REM sleep. RESULTS: There were no differences between the typical vs developmental delay groups. Comparison of children with autism vs typical children revealed shorter total sleep time (P = .004), greater slow-wave sleep percentage (P = .001), and much smaller REM sleep percentage (14.5% vs 22.6%; P < .001). Comparison of children with autism vs children with developmental delay revealed shorter total sleep time (P = .001), greater stage 1 sleep percentage (P < .001), greater slow-wave sleep percentage (P < .001), and much less REM sleep percentage (14.5% v 25%; P < .001). CONCLUSION: A relative deficiency of REM sleep may indicate an abnormality in neural organization in young children with autism that is not directly associated with or related to inherent intellectual disability but may serve as a window into understanding core neurotransmitter abnormalities unique to this disorder.

Ictal scalp EEG recording during sleep and wakefulness: diagnostic implications for seizure localization and lateralization.

To determine the localizing value of electroencephalography (EEG) for seizures during sleep versus seizures during wakefulness, we compared scalp EEG for 58 seizures that occurred during sleep with 76 seizures during wake in 28 consecutive patients with temporal lobe epilepsy. Regression analysis showed that seizures during sleep are 2.5 times more likely to have focal EEG onset (p = 0.01) and 4 times more likely to correctly localize seizure onset (p = 0.04) than seizures during wake. EEG seizure onset preceded clinical onset by a longer duration in sleep seizures (mean, 4.69 s) than in wake seizures (mean, 1.23 s; p < 0.01). Sleep seizures showed fewer artifacts, but the difference was not significant (p = 0.07). For temporal lobectomy candidates undergoing video-EEG monitoring, the recording of seizures during sleep may be favored.