Matarese, Christine

Abstract Introduction Klinefelter syndrome (KS) is a chromosomal condition marked by hypogonadism and disturbances in hormonal regulation. The relationship between KS and co-occurring sleep disorders has not been extensively characterized, creating a need for more detailed investigation. Methods We identified individuals with Klinefelter syndrome (KS) evaluated at our institution between January 2000 and December 2025 using ICD-9 and ICD-10-CM codes. Electronic health records were then manually reviewed to confirm KS status and to exclude miscoded entries. For confirmed cases, we extracted data on sleep-related complaints, diagnoses, diagnostic testing (overnight oximetry, polysomnography, home sleep testing), and treatment. Sleep disorders were categorized operationally: obstructive sleep apnea (OSA), central sleep apnea (CSA), insomnia, hypersomnia/narcolepsy, or other according to documented clinician diagnosis or diagnostic test results. When structured Sleep Center data were available, these were included. We summarized cohort characteristics using means (± SD) or medians (interquartile range) as appropriate. For comparison between subgroups (e.g., those with vs without documented sleep-disordered breathing), we applied Welch’s t-test and binomial proportion tests. Analyses were conducted using Python scripts and spreadsheet software. Results Nearly one-third of patients with confirmed KS in this series had either diagnosed or suspected obstructive sleep apnea (OSA), substantially exceeding prevalence estimates in the general population. The frequency of central sleep apnea (CSA) was comparable to that seen in the general population, however its occurrence without usual predisposing factors suggests a predisposition toward idiopathic CSA in KS. Circadian rhythm disorders were rare, occurring in < 1% of the cohort. Notably, nearly 75% of KS patients with documented sleep-related symptoms had never undergone formal evaluation in a Sleep Center. Conclusion The observed rate of presumed idiopathic CSA among individuals with KS suggests the possibility of KS-specific mechanisms affecting ventilatory control stability. Additionally, there appeared to be a larger prevalence of OSA in this patient population. Notably, approximately three-quarters of KS patients who reported sleep-related symptoms had never undergone a formal Sleep Medicine assessment, highlighting a significant gap in structured evaluation that may relate to limited access to specialized care, referral patterns, or other systemic barriers, and warrants additional study. Support (if any) None

Abstract Introduction The SleepImage is an HSAT device (sHSAT) that uses photoplethysmography and oxygen saturation data to generate an apnea hypopnea index (AHI). This sHSAT has been FDA cleared as a software-as-a-medical-device for use in children 2 years and older for diagnosing obstructive sleep apnea (OSA). To our knowledge this sHSAT has not been tested on children concurrent with the gold standard polysomnography (PSG). Methods This study evaluated 50 children 2-6 years of age with tonsillar hypertrophy and OSA symptoms with sHSAT during simultaneous in-lab PSG. Aims were to determine the technical feasibility of using sHSAT in this population and to compare sHSAT results to PSG. The primary endpoint was AHI by sHSAT compared to AHI by PSG and presence of OSA. Sensitivity analysis was performed for presence or absence of OSA diagnosis based on sHSAT versus PSG. Bland-Altman and concordance correlation calculations were used for comparisons. Results 50 patients, median age 4 (IQR 3-5), met criteria; 39 completed PSG and HSAT. The sensitivity with sHSAT for OSA prevalence based on proprietary categorization was 94.1%, specificity 22.7%, LR+ 1.22, and LR- 0.26, with PSG OSA prevalence of 43.6%. There was a 9% sHSAT total failure rate, and the device frequently fell off, resulting in TST difference of -226.9 ±182.8 min between sHSAT and PSG. PSG was trimmed to include only segments where HSAT was confirmed to be on before comparisons. Concordance correlation coefficient between sAHI and AHI-PSG was 0.52. The Bland-Altman analysis comparing sAHI and PSG AHI revealed a mean difference of 0.73 (95% confidence limits: -3.47 to 4.93). Considering only obstructive events, the Bland-Altman the sAHI vs the AHI-PSG shows a mean difference of 1.52 (95%CI -5.40 to 8.44). Conclusion This pilot study demonstrated challenges with feasibility in using the sHSAT in this age group given likelihood of technical difficulties leading to absent or truncated data. When compared with PSG, sHSAT demonstrated a high false-positive rate for diagnosis of OSA, particularly concerning if guiding surgical management. This topic is of considerable importance to the practice of pediatric sleep medicine; further investigation of technological advances in this area is imperative. Support (if any)

Abstract Introduction Insomnia is a common sleep disorder in pediatric patients with neurodevelopmental disabilities. There are no FDA approved medications for insomnia in the pediatric population, and treatment can be challenging. We present a case of successful treatment of sleep maintenance insomnia in a 15-year-old male with doxepin with supportive actigraphy data. Report of case(s) A 15-year-old male with a past history pertinent for a genetic neurodevelopmental disorder, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) was evaluated in Pediatric Sleep Medicine Clinic for long standing difficulties with sleep maintenance. He experienced frequent, prolonged nocturnal awakenings and early morning awakenings. Previous polysomnogram was negative for sleep disordered breathing. He previously trialed clonidine, guanfacine, trazodone, melatonin, and mirtazapine without significant benefit. Baseline actigraphy demonstrated frequent and prolonged nocturnal awakenings and early morning awakenings. He was initiated on doxepin 3 mg at bedtime, and it was subsequently increased to 6 mg at bedtime. Parental report and repeat actigraphy 4 months later (on doxepin 6 mg) demonstrated improvement in nocturnal awakenings and early morning awakenings. Conclusion Up to now, there are no FDA approved medications for the treatment of insomnia in the pediatric population. A prior study of patients with ASD and ADHD demonstrated the use of doxepin provided clinical improvement in sleep onset and maintenance insomnia based on subjective evidence with parental report. In this case, doxepin improved subjective report of insomnia and correlated with objective findings on actigraphy. Support (if any) NA

Abstract Introduction Epilepsy is frequently encountered in the pediatric population and some patients are treated by stimulation of the vagus nerve to reduce their seizure frequency. Vagus nerve stimulation (VNS) may induce central sleep apnea. Adaptive servo ventilation is a known treatment option for central sleep apnea in certain adult patients with heart failure and Cheyne-Stokes respiration but is infrequently utilized in the pediatric population. Report of case(s) A 17-year-old male with a history of intractable generalized epilepsy, VNS placement, obstructive sleep apnea (OSA) and central sleep apnea (CSA) presented to our tertiary care center for management of his sleep disordered breathing. Initial management of sleep disordered breathing included CPAP for OSA. After VNS placement, the patient began to have a high residual apnea-hypopnea index on data card download of his CPAP. Polysomnography (PSG) was performed on CPAP and CSA events were noted that correlated with VNS firing. BiPAP was titrated and was unsuccessful in treating the CSA. VNS adjustment did not impact the sleep disordered breathing. Repeat titration with adaptive servo ventilation successfully treated the OSA and CSA. In follow up, the patient is tolerating ASV with improvement in his nocturnal sleep disordered breathing events and his daytime functioning. Conclusion Central sleep apnea can be induced by vagus nerve stimulation. This unique case documents successful treatment of vagus nerve stimulation induced central sleep apnea by adaptive servo ventilation in an adolescent patient. Support (if any)