Deep Brain Stimulator (DBS) Artifact in the EEG of a Pediatric Patient.

We report the first case of deep brain stimulator (DBS) artifact in the EEG of a pediatric patient. Our case is a 7-year-old male with bilateral globus pallidus interna (GPi) DBS for whom the EEG recorded a rhythmic 7.5 Hz theta activity on EEG related to DBS artifact. This artifact was also appreciated as a monochromatic invariable frequency band over 7.5 Hz on density spectral array (DSA). This rhythmic artifact may mimic an ictal pattern and should be recognized as artifact in order to avoid unnecessary treatment with anti-seizure medications (ASM).

Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome.

Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes cause derangement of synapse development and function. We utilized a validated sleep instrument, Children's Sleep Habits Questionnaire (CSHQ) to examine the nature of sleep abnormalities occurring in individuals with two synaptopathies-Phelan-McDermid syndrome (PMD) (N = 47, male = 23, female = 24, age 1-46 years) and SYNGAP1-related intellectual disability (SYNGAP1-ID) (N = 64, male = 31, female = 33, age 1-64 years), when compared with unaffected siblings (N = 61, male = 25, female = 36, age 1-17 years). We found that both PMD and SYNGAP1-ID have significant sleep abnormalities with SYNGAP1-ID having greater severity of sleep disturbance than PMD. In addition, sleep disturbances were more severe for PMD in individuals 11 years and older compared with those less than 11 years old. Individuals with either disorder were more likely to use sleep aids than unaffected siblings. In conclusion, sleep disturbances are a significant phenotype in the synaptopathies PMD and SYNGAP1-ID. Improved sleep is a viable endpoint for future clinical trials for these neurodevelopmental disorders.

Polysomnographic predictors of abnormal brainstem imaging in children.

STUDY OBJECTIVES: Evaluation of elevated central apnea-hypopnea index (CAHI) or prolonged central apneas in pediatric patients typically includes neuroimaging with a focus on brainstem pathology. There is little evidence guiding thresholds of polysomnographic variables that accurately predict abnormal neuroimaging. We sought to evaluate whether additional polysomnographic variables may help predict brainstem pathology. METHODS: A 10-year retrospective review of patients ages 1-18 years who received a brain magnetic resonance imaging (MRI) for an indication of central sleep apnea diagnosed via polysomnography was performed. Demographics, medical history, polysomnogram variables, and MRI results were compared. RESULTS: This study included 65 patients (69.2% male). The median age was 5.8 years (interquartile range, 3.0-8.3). Most patients had negative (normal or nonsignificant) MRIs (n = 45, 69.2%); 20 (30.8%) had abnormal MRIs. Of the patients with abnormal MRIs, 13 (20.0%) had abnormalities unrelated to the brainstem. Seven patients (10.8%) were found to have brainstem pathology and had a median CAHI of 10.8 events/h (interquartile range, 6.5-21.9), and three of seven (42.9%) had hypoventilation and were more likely to have developmental delay, abnormal neurological examinations, and reflux. Other patients (n = 58) had a median CAHI of 5.6 events/h (interquartile range, 3.1-9.1), and seven (12.1%) had hypoventilation. Area under the curve and receiver operating characteristic curves showed a CAHI ≥ 9.5 events/h and ≥ 6.4% of total sleep time with end-tidal CO2 ≥ 50 mm Hg predicted abnormal brainstem imaging. Prolonged central apneas did not predict abnormal brainstem imaging. CONCLUSIONS: Most patients with central sleep apnea do not have MRIs implicating structurally abnormal brainstems. Utilizing a cutoff of CAHI of ≥ 9.5 events/h, ≥ 6.4% total sleep time with end-tidal CO2 ≥ 50 mm Hg and/or frank hypoventilation, and additional clinical history may optimize MRI utilization in patients with central sleep apnea.

Pediatric polysomnography-A review of indications, technical aspects, and interpretation.

Polysomnography is an elaborate diagnostic test composed of numerous data-collecting sensors working concomitantly to aid in the evaluation of varied sleep disorders in all age groups. Polysomnography is the study of choice for the assessment of pediatric sleep-disordered breathing, including obstructive sleep apnea syndrome, central apnea, and hypoventilation disorders, and is used to help determine treatment efficacy. Beyond the purview of snoring and breathing pauses, polysomnography can elucidate the etiology of hypersomnolence, when associated with a multiple sleep latency test, and abnormal movements or events, whether nocturnal seizure or complex parasomnia, when a thorough patient history cannot provide clear answers. This review will highlight the multitudinous indications for pediatric polysomnography and detail its technical aspects by describing the multiple neurophysiologic and respiratory parametric sources. Knowledge of these technical aspects will provide the practitioner with a thoughtful means to understand the limitations and interpretation of polysomnography.

Acute Drug-Induced Symptoms of Restless Legs Syndrome in an Emergency Department: What's in a Name?

CITATION: Stowe RC. Acute drug-induced symptoms of restless legs syndrome in an emergency department: what's in a name? J Clin Sleep Med. 2019;15(9):1381.

Global Health Education in Child Neurology and Neurodevelopmental Disabilities Training Programs in the United States: A National Survey.

OBJECTIVES: To describe the current landscape of opportunities and education in global health among child neurology and neurodevelopmental disabilities training programs and provide a framework for future development of global health education. METHODS: Authors surveyed Trainee and Program Director groups, obtaining information regarding global health interest, participation and obstacles (trainees); and collaborations in global health, academic yield and obstacles, and global health educational development within the training program (program directors). RESULTS: Of identified trainees and program directors, 35% and 48% responded, respectively. Among trainees, 82% reported interest in global health, with 25% reporting influence in program selection. Among program directors, 34% reported global health collaborations, most frequently clinical. Academic yield (conference participation or publications) was described by 46% of programs. Major obstacles described by both groups included administrative issues and funding; however, the latter was most important for program directors but not for trainees. Among program directors, 16% reported global health curricula, with lectures (100%), orientation courses (50%), and pre/post-travel sessions (50%) being commonest elements. The main content included education in public health, resourcefulness, and epidemiology. Half of responding programs offered a formal global health training track, including opportunities in language education (67%) and advanced degrees (33%). CONCLUSIONS: Similar to other specialties, growing interest in global health among trainees corresponds to growing availability of said opportunities; however, most display significant logistic obstacles and lack curricular development. Potential areas for intervention, including an interdisciplinary approach, and potential benefits to stakeholders are identified for programs wishing to expand in global health education.

Electroencephalographic Patterns During Routine Polysomnography in Childhood and Association With Future Epilepsy Diagnosis.

STUDY OBJECTIVES: Evaluate the frequency of abnormal electroencephalograph (EEG) records during pediatric polysomnography (PSG) at a tertiary referral center and determine frequency with which these records may predict future seizures and a diagnosis of epilepsy. METHODS: Retrospective review of all pediatric PSG reports from 2013 was performed. Demographics, medical history, indications, diagnoses, and EEG reports were collected. Patients were evaluated for follow-up of future diagnosis of seizure or epilepsy over a 30-month period. RESULTS: A total of 1,969 studies (56.9% males, median age 7 years) were analyzed. Abnormal EEG results were detected in 314 studies (15.9%); abnormalities included slowing in 75 (3.8%) and interictal epileptiform discharges (IEDs) in 239 (12.1%). Incidental abnormal EEG recordings were found in 186 patients (9.4%) without a prior diagnosis of seizure or epilepsy. Incidental IEDs were recorded in 126 (6.4%) and were most commonly focal (66.7%). Ten patients received follow-up EEG without clinical follow-up, 68 received clinical follow-up without follow-up EEG, and 29 received both within a 30-month period. Follow-up EEG was normal in only 30.8% of cases. Thirteen patients in the 30-month window received a new diagnosis of epilepsy. Each new diagnosis occurred in patients with preexisting neurodevelopmental disorders at high risk for seizures. CONCLUSIONS: Abnormal EEG during pediatric PSG without additional history of seizure is a poor prognosticator for a future diagnosis of epilepsy. Abnormalities detected on PSG did not always portend abnormal diagnostic EEG and thus its utility to corroborate findings does not appear to be supported without additional clinical context concerning for seizure.

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.

Palliative care services are beneficial for pediatric neurology patients with chronic, life-limiting illnesses. However, timely referral to palliative care may be impeded due to an inability to identify appropriate patients. The aim of this pilot case-control study was to test a quantitative measure for identifying patients with unmet palliative care needs to facilitate appropriate referrals. First, a random subset of pediatric neurology patients were screened for number of hospital admissions, emergency center visits, and problems on the problem list. Screening results led to the hypothesis that having six or more hospital admissions in one year indicated unmet palliative care needs. Next, hospital admissions in the past year were counted for all patients admitted to the neurology service during a six-month period. Patients with six or more admissions as well as age- and gender-matched controls were assessed for unmet palliative care needs. In hospitalized pediatric neurology patients, having six or more admissions in the preceding year did not predict unmet palliative care needs. While this pilot study did not find a quantitative measure that identifies patients needing a palliative care consultation, the negative finding highlights an important distinction between unmet social needs that interfere with care and unmet palliative care needs. Further, the method of screening patients used in this study was simple to implement and provides a framework for future studies.

Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support.

INTRODUCTION: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an exceptionally rare clinical entity with significant morbidity and high mortality with challenging-to-treat hypoventilation. CASE PRESENTATION: An 11-year-old morbidly obese Chinese female presented with a putative diagnosis of ROHHAD associated with a left psoas ganglioneuroma. Initial polysomnography showed severe obstructive sleep apnea and hypoventilation. She was not adherent to prescribed non-invasive positive pressure ventilation (NIPPV). Echocardiography demonstrated evidence of pulmonary hypertension, likely secondary to chronic hypoventilation. With behavioral modification and trial of average volume-assured pressure support (AVAPS), adherence improved with eventual improvement of her pulmonary hypertension. CONCLUSION: AVAPS may improve ventilation and NIPPV adherence in central hypoventilation disorders such as ROHHAD, reducing risk of morbidity and mortality.

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Lipoic acid is an essential cofactor for the mitochondrial 2-ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. We report a 2-month-old male with severe lactic acidosis, refractory status epilepticus, and brain imaging suggestive of Leigh disease. Exome sequencing implicated compound heterozygous LIPT1 pathogenic variants. We describe the fifth case of LIPT1 deficiency, whose phenotype progressed to that of an early infantile epileptic encephalopathy, which is novel compared to previously described patients whom we will review. Due to the significant biochemical and phenotypic overlap that LIPT1 deficiency and mitochondrial energy cofactor disorders have with pyruvate dehydrogenase deficiency and/or nonketotic hyperglycinemia, they are and have been presumptively under-diagnosed without exome sequencing.

Primary Amebic Meningoencephalitis in Children: A Report of Two Fatal Cases and Review of the Literature.

BACKGROUND: Primary amebic meningoencephalitis is a rare, almost uniformly fatal disease of cerebral invasion by Naegleria fowleri, occurring most commonly after swimming in warm fresh water in summer months. Treatment using the experimental medication miltefosine demonstrated improved survival and favorable neurocognitive outcome in a 2013 North American patient. There is little information about the electroencephalographic findings of such patients, and our understanding of factors predicting survival is limited. METHODS AND RESULTS: We describe two children, aged four and 14 years, who both presented with seizures and altered mental status after recent fresh water swimming exposures. With evidence of pyogenic meningitis and examination of cerebrospinal fluid demonstrating motile trophozoites on wet mount, N. fowleri meningoencephalitis was diagnosed. Amebicidal antibiotic regimens with miltefosine were administered. Continuous electroencephalography monitoring demonstrated evolution from diffuse slowing to seizures, status epilepticus, and eventually global attenuation and absence of activity. Both patients ultimately died after complications of progressive increasing intracranial pressure and hemodynamic compromise. CONCLUSIONS: Primary amebic meningoencephalitis is a serious, sporadic infection. We describe two fatal pediatric patients, the evolution of their electroencephalography findings, and compare their findings with the 13 reported pediatric survivors.

Facial nerve palsy, Kawasaki disease, and coronary artery aneurysm.

Kawasaki disease is rarely complicated by cranial nerve VII palsy. This report describes a 15-month-old female presenting with 3 days of fever, irritability, and rash who was subsequently diagnosed with Kawasaki disease and treated with intravenous immunoglobulin. She was found to have mild coronary artery ectasia and developed an acute, transient, left-sided facial palsy on the sixth day of illness. Repeat echocardiography demonstrated worsening aneurysm and intravenous methylprednisolone was added to her treatment regimen. At 1 and 3 months post-discharge, echocardiography demonstrated resolution of her coronary aneurysm. This case makes 41 total described in the literature. Patients tend to be under 12-months-old and there is a higher association with coronary artery aneurysm in such patients compared to those without facial palsy who never even received treatment. Kawasaki disease associated with facial palsy may indicate increased inflammatory burden and patients may require additional anti-inflammatory agents and more vigilant echocardiography.

Case report of subacute cerebellar ataxia of adolescence with long-term sequelae.

Acute ataxia is not an uncommon childhood complaint. It most commonly occurs in young patients secondary to a postinfectious cerebellitis, which is typically associated with a very good prognosis and recovery. In adolescence, acute cerebellar ataxia is more often the product of an etiology likely to progress into a chronic disorder without recovery to preillness baseline. In the present case, the authors describe a 15-year-old girl with subacute cerebellar ataxia of presumed immune-mediated etiology that advanced into a chronic cerebellar ataxia. Due to a family history, celiac disease was suspected as the origin of the ataxia; biopsy ruled out enteropathy, and the severe, abrupt radiological changes to the patient's cerebellum are inconsistent with the reported sequelae of gluten ataxia. This case serves as a discussion for diagnostic challenges in adolescent patients with acute cerebellar ataxia with long-term sequelae as well as providing an adjunct discussion on the neurological complications of celiac disease.