Objectives/Hypothesis Obstructive sleep apnea (OSA) and sickle cell disease (SCD) represent two complex disease processes. Current guidelines recommend that children with SCD receive polysomnography (PSG) after presenting with signs or symptoms of sleep‐disordered breathing (SDB). Recent studies suggest a disproportionately elevated prevalence of SDB in the population of children with SCD, and traditional risk factors may not be evident within these patients. Further objective testing might be needed to screen all pediatric patients with SCD, even in the absence of overt signs or symptoms of OSA to prevent complications of both conditions. Study Design Prospective cohort study. Methods Institutional review board approval was obtained. An eight‐question OSA risk assessment screening questionnaire was presented prospectively to 100 consecutive patients with SCD in the pediatric hematology clinic regardless of complaints of SDB. Results Out of 100 patients, 51 were female. The average age, body mass index (BMI), BMI percentile, and I'M SLEEPY score of the entire cohort were 3.97 years, 15.97%, 55.4%, and 1.63%, respectively. Nineteen patients had a positive sleep apnea screening score and were referred for PSG. The average age BMI, BMI percentile, and I'M SLEEPY score for those 19 patients were 3.77%, 16.67%, 65%, and 3.95%, respectively. Ten patients completed PSG, with seven diagnosed with OSA. Conclusions This pilot study demonstrates a higher incidence of SDB and OSA in children with SCD relative to the general pediatric population. Although more PSG reports and further testing is needed to determine whether the results hold, preliminary data indicate that children with SCD should at least undergo OSA screening in the office regardless of overt symptoms. Level of Evidence 3 Laryngoscope, 131:E1022–E1028, 2021

No abstract

Introduction ROHHAD is a rare and complex pediatric disorder presenting in early childhood with rapid onset obesity, followed by central hypoventilation, hypothalamic dysfunction, endocrine disorders, and neurobehavioral disorders. Report of Case We present a unique case of a 6-year-old girl diagnosed with ROHHAD in the setting of normal Body Mass Index (BMI). Patient had a history of food-seeking behavior, hyperphagia, and rapid onset obesity at the age of 4 years old with subsequent development of autonomic dysregulation, hypoventilation, and neurobehavioral disorders. At the time of evaluation in Sleep Medicine Clinic for snoring and disrupted sleep the patient had been treated for hyperactivity with several appetite-suppressing stimulant medications leading to weight loss and causing her to have a normal BMI. The original polysomnogram demonstrated severe Obstructive Sleep Apnea (OSA) with obstructive Apnea-Hypopnea Index (AHI) of 11.2/hour and was concerning for hypoventilation based on the end-tidal CO2 values and morning blood gas. Despite improvement in OSA with CPAP therapy, the patient’s hypercapnia persisted. The overall clinical presentation resulted in extensive multispecialty workup, which ultimately led to the diagnosis of ROHHAD syndrome despite the patient’s normal BMI. Conclusion ROHHAD syndrome is a rare and complex pediatric disorder requiring multi-disciplinary approach, with early diagnosis and intervention being essential for management of the condition. Hypothalamic obesity is one of the diagnostic hallmarks of ROHHAD. However, about half of patients with ROHHAD develop neurobehavioral disorders, which might require treatment with stimulant medications. Literature review revealed several case reports addressing the effect of stimulant medications on hypothalamic obesity, however none focusing on patients with ROHHAD syndrome. This case raises questions about the role of appetite-suppressing medications in the management of obesity in patients with ROHHAD. It also suggests possible need for further specific workup in patients on stimulants with hypoventilation in the absence of obesity.