Sleep‐disordered breathing, respiratory patterns during wakefulness and functional capacity in pediatric patients with rapid‐onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation syndrome

2020 ◽  
Author(s):  
Sarah Selvadurai ◽  
David Benzon ◽  
Giorge Voutsas ◽  
Jill Hamilton ◽  
Ann Yeh ◽  
...  
Keyword(s):  
Functional Capacity ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Rapid Onset ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction ◽  
Disordered Breathing

scholarly journals Autoimmune profiling suggests paraneoplastic etiology in pediatric ROHHAD

2021 ◽  
Author(s):  
Caleigh Mandel-Brehm ◽  
Joseph DeRisi ◽  
Leslie Benson ◽  
Baouyen Tran ◽  
Andrew F Kung ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Rapid Onset ◽  
Paraneoplastic Neurological Syndrome ◽  
Accurate Diagnosis ◽  
Autonomic Dysregulation ◽  
Healthy Human ◽  
Hypothalamic Dysfunction ◽  
Neuroblastic Tumors ◽  
Scan Domain ◽  
Autoimmune Etiology

ROHHAD (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation) is a rare, yet severe pediatric disorder resulting in hypothalamic dysfunction and frequent sudden death. Genetic and other investigations have failed to identify an etiology or diagnostic test. Frequent co-occurrence of neuroblastic tumors (NTs) and cerebrospinal fluid inflammation point to an autoimmune paraneoplastic neurological syndrome (PNS); however, specific anti-neural autoantibodies, a hallmark of PNS, have not been identified. Here, we screened antibodies from a curated cohort of ROHHAD patients (n=9) and controls (n=150) using a programmable phage display of the human peptidome (PhIP-Seq). Our ROHHAD cohort exhibited frequent association with NTs (8/9) and features consistent with autoimmune etiology. Autoantibodies to Zinc finger and SCAN domain-containing protein 1 (ZSCAN1) were discovered and orthogonally validated in 7 of 9 ROHHAD patients, all of whom had NTs, and shown to be absent in non-ROHHAD pediatric patients with NTs. Notably, human ZSCAN1 expression was confirmed in ROHHAD tumor and healthy human hypothalamus. Our results support the notion that tumor-associated ROHHAD is a pediatric PNS, potentially initiated by an immune response to peripheral NT. ZSCAN1 autoantibodies may aid in an accurate diagnosis of ROHHAD, thus providing a means toward early detection and treatment. Lastly, given the absence of the ZSCAN1 gene in rodents, our study highlights the value of human-based approaches in addition to the classical rodent-based approaches for detecting novel PNS subtypes.

scholarly journals ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

2020 ◽  
Vol 105 (7) ◽  
pp. 2119-2131 ◽  
Author(s):  
Julie Harvengt ◽  
Caroline Gernay ◽  
Meriem Mastouri ◽  
Nesrine Farhat ◽  
Marie-Christine Lebrethon ◽  
...  
Keyword(s):  
Systematic Review ◽  
Early Diagnosis ◽  
Individual Patient Data ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Rapid Onset ◽  
Patient Data ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction

Abstract Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Objective The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. Design We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. Methods All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. Results Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. Conclusion Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.

scholarly journals 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn
Keyword(s):  
Sleep Apnea ◽  
Turner Syndrome ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Case Series ◽  
Growth Failure ◽  
Retrospective Chart Review ◽  
Upper Airway Resistance Syndrome ◽  
Disordered Breathing

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.

558 A Surface Electrode Adjacent to Vagal Nerve Stimulator Lead Can Aid in Characterizing VNS Mediated Sleep Disordered Breathing

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A220-A221
Author(s):  
Jeremy Chan ◽  
Joanna Wrede
Keyword(s):  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Refractory Epilepsy ◽  
Vagal Nerve ◽  
Apnea Hypopnea Index ◽  
Surface Electrode ◽  
Patients Âgés ◽  
Vagal Nerve Stimulator ◽  
Obstructive Sleep ◽  
Disordered Breathing

Abstract Introduction Vagal nerve stimulators (VNS) are a nonpharmacological treatment for patients with refractory epilepsy. The VNS can decrease seizure frequency by over 75% in 40% of pediatric patients with refractory epilepsy. An underrecognized side effect is sleep disordered breathing (SDB). The purpose of this study was to demonstrate how a sensor placed adjacent to the VNS lead can distinguish whether SDB is due to VNS discharge. Methods Five pediatric patients (ages: 5–8) with refractory epilepsy with VNS were referred to our sleep center for concern for SDB. Each patient underwent a polysomnogram (PSG) that included a standard PSG montage with a surface electrode placed adjacent to their left lateral neck to detect VNS discharge. VNS associated apnea hypopnea index (vAHI) was calculated by determining the number of hypopneas and obstructive apneas occurring during VNS discharge. Results Of the 5 patients, three met pediatric criteria for obstructive sleep apnea (OSA). Patient 1 had an obstructive AHI (oAHI) of 21.3 events/hr with a vAHI accounting for 79% of the total (16.8 events/hr), patient 2 had an oAHI of 16.6 events/hr with a vAHI accounting for 57% of the total (9.5 events/hr), and patient 3 had an oAHI of 1.9 events/hr with vAHI accounting for 68% of the total (1.3 events/hr). Because of these findings, the VNS settings of all 3 patients were changed with the goal of reducing SDB due to VNS discharge. Upon repeat PSG, patient 2 had reduced OSA with an oAHI of 3 events/hr, with no events associated with VNS discharge. The remaining 2 patients did not exhibit VNS associated SDB, however, both experienced increased respiratory rate during VNS discharge. Conclusion We demonstrated that a surface electrode adjacent to the VNS is able to temporally co-register VNS discharges and enabled us to directly correlate SDB to VNS stimulation in 3 patients with refractory epilepsy. Because of our findings, we titrated the VNS parameters in all 3 patients, with one showing resolution of VNS associated SDB on repeat PSG. We propose that an added surface electrode to detect VNS discharge be considered as standard practice in PSG studies of patients with VNS. Support (if any):

scholarly journals Impact of Tonsillectomy on Obesity in Pediatric Patients With Sleep-Disordered Breathing

OTO Open ◽  
2021 ◽  
Vol 5 (4) ◽  
pp. 2473974X2110591
Author(s):  
Rohith S. Voora ◽  
Daniela Carvalho ◽  
Wen Jiang
Keyword(s):  
Sleep Disordered Breathing ◽  
Weight Status ◽  
Pediatric Patients ◽  
Case Series ◽  
Surgical Indication ◽  
Strongly Correlated ◽  
Retrospective Case ◽  
Academic Center ◽  
Disordered Breathing

Objective Both tonsillar hypertrophy and obesity contribute to pediatric sleep-disordered breathing (SDB). Tonsillectomy addresses anatomical obstruction causing SDB; however, it may adversely affect the obesity profile postoperatively. Herein, we investigate posttonsillectomy body mass index (BMI) changes in pediatric patients. Study Design Retrospective case series. Setting Tertiary, pediatric urban academic center. Methods All patients undergoing tonsillectomy from January 1, 2016, to December 31, 2016, were included. Patients’ age, sex, surgical indication, and preoperative BMI were recorded. Postoperative BMI data were collected between March 1, 2016, and December 31, 2017. Statistical analysis was performed using a generalized regression model, using BMI percentile-for-age weight status. Results A total of 1153 patients were included (50% female), with age ranging from 2.0 to 19.5 years (mean [SD], 7.6 [4.0]). The majority (87.8%) had tonsillectomy for SDB. Of the cohort, 560 (48.6%) had available follow-up BMI data. The BMI percentile on the day of the surgery had a median of 65.8, and the BMI percentile on follow-up had a median of 76.4. The median time to follow-up was 197 days with a range of 50 to 605 days. Higher postoperative BMI percentile strongly correlated to higher preoperative BMI percentile ( P < .001), as well as younger age ( P < .001), male sex ( P = .0005), and SDB as a surgical indication ( P = .003). Conclusion We observed a significant increase in BMI percentile following tonsillectomy, which accounted for a significantly higher proportion of the cohort being classified as overweight or obese postoperatively. These findings necessitate greater preoperative counseling, closer follow-up, and adjunctive measures for obesity management in pediatric patients undergoing tonsillectomy.

scholarly journals Sleep-Disordered Breathing in 2 Pediatric Patients on Peritoneal Dialysis

2016 ◽  
Vol 36 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Neha Sharma ◽  
Elizabeth Harvey ◽  
Reshma Amin
Keyword(s):  
Quality Of Life ◽  
Chronic Kidney Disease ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Central Sleep Apnea ◽  
Cognitive Health ◽  
Nocturnal Hypoventilation ◽  
Underlying Mechanisms ◽  
Disordered Breathing

Sleep-disordered breathing (SDB) is prevalent in children with chronic kidney disease (CKD), and has the potential to worsen vascular and neuro-cognitive health and quality of life. We present 2 children with CKD who experience central sleep apnea and nocturnal hypoventilation and discuss the possible underlying mechanisms in relation to CKD and dialysis.

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