No abstract

Introduction Achondroplasia (ACH) occurs approximately 1 in 20,000–30,000 live births. They are prone to sleep disordered breathing specifically due to the upper airway stenosis, enlarged head circumference, combined with hypotonia and limited chest wall size associated with scoliosis at times. The co-occurrence of sleep apnea is well established and can aide in the decision for surgical intervention, however it is unclear at what age children should be evaluated for sleep apnea. Screening is often delayed as during the daytime there is no obvious gas exchange abnormalities. Due to the rareness of this disease, large studies are not available, limiting the data for discussion and analysis to develop guidelines on ideal screening age for sleep disordered breathing in children with ACH. Methods The primary aim of this study is to ascertain the presence of sleep disorder breathing and demographics of children with ACH at time of first polysomnogram (PSG) completed at one of the largest pediatric sleep lab in the country. The secondary aim of the study is to identify whether subsequent polysomnograms were completed if surgical interventions occurred and how the studies differed over time with and without intervention. Retrospective review of the PSGs from patients with ACH, completed from 2017–2019 at the Children’s Sleep Disorders Center in Dallas, TX. Clinical data, demographics, PSG findings and occurrence of interventions were collected. Results Twenty-seven patients with the diagnosis of ACH met criteria. The average age at the time of their first diagnostic PSG was at 31.6 months of age (2.7 years), of those patients 85% had obstructive sleep apnea (OSA),51% had hypoxemia and 18% had hypercapnia by their first diagnostic sleep study. Of those with OSA, 50% were severe. Majority were females, 55%. Most of our patients were Hispanic (14%), Caucasian (9%), Asian (2%), Other (2%), Black (0%). Each patient had an average of 1.9 PSGs completed. Conclusion Our findings can help create a foundation for discussion of screening guidelines. These guidelines will serve to guide primary care physicians to direct these patients to an early diagnosis and treatment of sleep disordered breathing. Support (if any):

Introduction Sexsomnia is a male predominant, rare subset of NREM parasomnia involving sleep-related sexual activity. Symptoms can range from individual sexual acts, such as masturbation, to acts involving bed partners, often without recollection. Sexsomnia results in profound personal, social, and legal ramifications. Though typically treated with benzodiazepines, here we present three patients that were managed nontraditionally. Report of case(s) Case 1 A 34-year-old man with a history of optimized obstructive sleep apnea (OSA), alcohol abuse, and bipolar disorder reported eight-years of parasomnia characterized by fondling, sexual intercourse, and aggressive sexual acts, despite treatment with benzodiazepines. His fiancé noted that his advances when sleeping were atypical for their normal intimate interactions. He was observed to have frequent arousals from N3 sleep during PSG. The patient denied current substance use, but did report bilateral foot discomfort leading to sleep disturbance. His ferritin was 38 ng/mL, and he was started on oral iron and vitamin C. Case 2 A 41-year-old woman with a history of anxiety, psoriatic arthritis, insomnia and childhood somnambulism presented with parasomnia ranging from fondling to sexual intercourse. Her husband noted that during the episodes, her mannerisms and speech pattern were vastly different from normal. She endorsed difficulty initiating sleep, with a sleep latency of one hour and frequent arousals despite using trazodone nightly. She consumed two to five glasses of whiskey in the evenings several nights a week. Parasomnia events were more prevalent on nights that she partook in alcohol and improved with alcohol cessation. Case 3 A 44-year-old man with a history of optimized mild OSA presented with parasomnias characterized by somnambulism with goal-directed behavior and sexual activity, with a family history of violent parasomnias. Given the atypical nature of his events, he was referred to the epilepsy monitoring unit, which was ultimately nondiagnostic. Benzodiazepine therapy was ineffective. He chose to defer further medical management, leading the patient to pursue cognitive behavioral therapy, with moderate benefit. He reports infrequent parasomnias off medications. Conclusion Sexsomnia remains a rare, and likely under reported phenomenon. In each of the highlighted cases, the patients responded to treatment without the use of standard benzodiazepine therapy. Support (if any):