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):
Parasomnias are undesirable behaviors that occur during sleep. Some of these events can be violent and result in injuries to self or others, and some may even result in disability or death. There are no predictors to determine if a parasomnia will result in violence; hence, it is importance to learn to identify parasomnias in general and intervene when necessary. A detailed patient history is required to identify parasomnias. Video polysomnography is the recommended test to use, and additional electromyogram leads can be added to identify movement and correlate events with sleep or wakefulness. The polysomnogram is also helpful to determine presence of obstructive sleep apnea, which is a known precipitating factor for parasomnias. Other precipitating and predisposing factors are fragmented sleep, deprivation of sleep, alcohol, medications, disorders of sleep (eg, sleep apnea, restless legs syndrome, insomnia, narcolepsy), and environmental triggers such as sudden noise, flickering light, or bed partner's snoring. Violent parasomnias that result in harm can be adjudicated to criminal courts, where investigation attempts to determine the presence of consciousness in the patient during the episode, indicating intent. [ Psychiatr Ann . 2021;51(12):556–559.]
Parasomnias are unexpected and undesirable motor activities during sleep. Parasomnias may occur during non-rapid eye movement (NREM) sleep or rapid eye movement (REM) sleep. Nightmare disorder, recurrent isolated sleep paralysis, sleep-related hallucinations, REM behavior disorder (RBD), and status dissociatus (agrypnia excitata) are some of the REM parasomnias. Parasomnia overlap syndrome is a term used for parasomnias that occur in both REM and NREM sleep stages, such as catathrenia. RBD is a parasomnia that occurs during REM sleep stage and is characterized by acting out dreams (oneirism), leading to unwanted motor actions such as kicking, punching, or slapping, or sudden abrupt movements that can cause unexplained injuries to self or bedpartner. Memory of the associated dream is usually preserved. Diagnosis is obtained via video polysomnography with findings of REM activity without atonia and video recording of the oneirism. Treatment starts with developing a safety plan, improving sleep hygiene, and identifying any medications or other triggers such as snoring or leg movements. Melatonin, benzodiazepines, and a few other medications are used for treatment of RBD and other REM parasomnias. [ Psychiatr Ann . 2021;51(12):560–565.]
Introduction Somnambulism is a parasomnia occurring in non-rapid eye movement sleep, and is characterized by ambulation as a disorder of arousal regulation. Sleep deprivation, alcohol abuse, fragmented sleep and certain medications can increase the risk of sleep walking. Report of case(s) Here we present a 35-year-old man with multiple triggers for sleep walking, resulting in recurrent parasomnia events over fifteen years. He had a history of bipolar disorder, post-traumatic stress disorder (PTSD), chronic insomnia, moderate untreated obstructive sleep apnea (OSA), anxiety with violent daytime behaviors, and prior alcohol abuse status post six years of sobriety. He was sent to our clinic due to increased frequency and severity of events, with nightly events for the last five years. Episodes were characterized by walking around the home, leaving the home, and driving on occasion. He reported at least one minor car accident as a result of sleep driving. He also reported an injury resulting from a fall in his home while sleep walking. Several security measures were implemented, including door gates, door alarms, and hiding car keys. His family slept in different bedrooms with locked doors for safety. The patient’s chronic insomnia improved with cognitive behavioral therapy, leading to an average sleep time of five hours per night with no reported hypersomnia or daytime fatigue. After his initial evaluation, he was referred for a mandibular advancement device for treatment of his OSA, due to prior poor compliance with positive airway pressure therapy related to his PTSD. Optimizing his OSA helped decrease arousals that might trigger sleep walking events. He also maintained close follow up with mental health for pharmacotherapy and psychological therapy. Treatment with clonazepam 0.25 mg at bedtime was initiated given the severity of his somnambulism. Conclusion The use of a benzodiazepine can reduce slow wave sleep duration by its effect on the inhibitory neurotransmitter gamma aminobutyric acid (GABA). Our patient had multiple risk factors for parasomnias, with severe, frequent episodes of sleepwalking leading to self-injury. His treatment involved both pharmacotherapy as well as optimization of underlying triggers. Support (if any):
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