Baughn, Julie

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 The definition of respiratory events has evolved over decades. The current American Academy of Sleep Medicine scoring manual recommends hypopneas be defined by a ≥ 30% airflow reduction with either ≥ 3% desaturation or an arousal, while the prior “recommended” criteria of a ≥ 30% airflow reduction and associated ≥ 4% oxygen desaturation (with no requirement of arousal) was changed to “optional”. Consequently, events previously characterized as a respiratory effort related arousal (RERA) may now be defined as a 3% hypopnea. We hypothesized that while the 3% apnea-hypopnea index (3%AHI) will be higher than the 4%AHI, the 3%AHI will be similar to the 4% respiratory disturbance index (4%RDI), and that the measurement of RERAs under 3% scoring criteria will be clinically insignificant. Methods We prospectively collected 70 consecutive in-lab polysomnography results in 4 adult age groups. We re-scored the respiratory events utilizing the 3% hypopnea rule, and compared the differences between 3% and 4% scoring criteria. Results Among the 70 studies (mean age 50, males 46%), the 3%AHI was significantly higher than the 4%AHI (+9.247 ± 1.161, p< 0.001). This was mainly due to increased hypopnea events (+10.313 ± 1.617, p< 0.001). The 3%AHI was significantly different from the 4%RDI (+7.096 ± 1.133, p< 0.001). There were no significant differences between the 3% and 4% RERA indices, with both values being minimal. Results were similar in both diagnostic and titration phases of testing. Conclusion As previously shown, utilizing the 3% hypopnea rule results in an increased AHI. Most of this difference is related to hypopneas with negligible influence of RERAs. This may lead to increased diagnosis and severity of sleep-disordered breathing in the adult population, and potentially be associated with payer ramifications. Our findings demonstrated negligible RERA indices on average with either rule, thus calling into question the clinical significance of this index in most patients. 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)

Abstract Introduction Obstructive Sleep Apnea (OSA) in children and adolescents is commonly discussed amongst dental specialists. Physical attributes such as a high and narrow palate, dolichofacial appearance, and retrognathic mandible are reported to increase pediatric risk for OSA. Previous research states rapid maxillary expansion decreases AHI in children with OSA and may be an effective treatment option. Current literature does not report a consistent method of measuring a maxillary transverse deficiency nor does it report a numerical maxillary threshold deficiency that requires expansion in pediatric patients with OSA. Our aims are to compare two different orthodontic diagnostic methods for measuring the maxillary transverse dimension and to assess whether patients diagnosed with mild, moderate, or severe OSA have a numerical threshold for maxillary deficiency. Methods Participants were ages 7-17 years old (average 11.7 years) with no history of orthodontic treatment, craniofacial syndromes, craniosynostosis forms, or nasal abnormalities. Those with and without adenoids and tonsils were included. Participants presented to the Mayo Clinic Sleep Center for their polysomnogram. Their dentition was scanned, and a digital model was rendered. The maxillary transverse dimension was measured via two different methods: McNamara’s Analysis and Andrew’s Six Elements of Orofacial Harmony. Results There were 65 participants: 31 diagnosed with OSA (13 Mild, 4 Moderate, 5 Severe, and 9 Other) and 34 without (controls). Patients in the Other category were diagnosed based on clinical findings. No statistical difference was found between the maxillary transverse measurements of patients with versus without OSA or between the OSA categories. Patients with OSA were more likely to have permanent teeth (61.3% vs 32.4%, p=0.019), tonsils removed (54.8% vs 26.5%, p=0.020), and to have snored during the PSG (83.9% vs 55.9%, p=0.048). Conclusion Conclusions based on this pilot study should be interpreted carefully due to limited sample sizes. No statistically significant differences of the maxillary transverse dimension were found between those with and without OSA using either diagnostic method. No numerical maxillary deficiency threshold was found. Maxillary expansion should not be recommended based on OSA diagnosis alone. Referral to a dental specialist is recommended based on dental needs. Support (if any) Support was provided by Mayo Clinic CTSA grant UL1TR002377.

Abstract Introduction Obstructive sleep apnea (OSA) affects 50–79% of children with Down Syndrome (CDS) prompting the development of guidelines to increase early detection of OSA. Cross-sectional survey based data shows that CDS have higher rates of bedtime resistance, sleep anxiety, night waking and parasomnias, which are also under-recognized. However, due to increased survival of CDS it may be that OSA treated in childhood returns or worsens, or that CDS may develop other sleep disorders as their life experience and exposure to comorbidities expands. Little is known about sleep disorders across the life span of CDS and screening guidelines leave a gap beyond early childhood. We determined to enhance understanding of respiratory and non-respiratory sleep disorders in a community population of CDS. Methods A retrospective population based observational study of CDS born between 1995–2011 was performed using the Rochester Epidemiology Project database. Medical records from all encounters through July 2020 were reviewed to identify sleep disorders. Sleep diagnoses, sleep test results, and treatments aimed at sleep disorders were recorded. Results 94 CDS were identified with 85 providing consent for research. 54 out of 85 individuals were diagnosed with OSA with 26 diagnosed prior to age 4 and 25 undergoing polysomnography prior to treatment. 26 individuals underwent polysomnography following surgery of which 16 continued to have clinically significant OSA requiring further treatment with secondary surgery, CPAP or anti-inflammatory therapy. Other sleep disorders observed included insomnia (n=16), restless leg syndrome (n=7), periodic limb movement disorder (n=10), idiopathic hypersomnia (n=1), nightmares (n=1), nocturnal enuresis (n=1), bruxism (n=1) and delayed sleep phase disorder (n=1). Most non-OSA sleep disorders were diagnosed during OSA evaluation by sleep medicine providers. However, many children were on melatonin without a formal sleep disorder diagnosis. Conclusion Both OSA and other sleep disorders remain under-diagnosed in CDS. This may be due to lack of validated screening tools that can be administered at the primary care level. Screening recommendations should consider the longitudinal nature of OSA in CDS and the presence of non-respiratory sleep disorders. Adenotonsillectomy is not as effective in CDS and postsurgical polysomnography is warranted along with long term follow-up to assess for further treatment needs. Support (if any):