Sexsomnia: sleep sex research and its legal implications.

"Sleep sex," also known as sexsomnia, is a sleep disorder characterized by sexual behaviors committed while asleep. There has recently been increased interest in sexsomnia due to controversies arising in legal trials that have been widely publicized in the social and public media. This article attempts to marshal the current information about sexsomnia from the forensic literature and provides an overview of sexsomnia including common features, precipitating factors, prevalence rates, diagnostic procedures, and treatment. As sexsomnia represents a condition in which sexual acts are committed without awareness or intention, this paper also reviews the development of sexsomnia as a legal defense and summarizes Canadian case law on the topic. It provides an overview of the hurdles presented to defense attorneys attempting to utilize the defense and examines popular public notions surrounding the legitimacy of sexsomnia and the possibility of malingering. We conclude that sexsomnia is a legitimate sleep disorder for which case law now exists to support its use in legal defenses based on automatism. The question of whether it is an example of "sane" or "insane" automatism remains to be determined by the courts. Regardless of whether or not sexsomnia is determined to be a mental disorder by the courts, it is now a recognized and well-described sleep disorder that can be safely treated and managed by knowledgeable clinicians.

Nocturnal enuresis.

Nocturnal enuresis (NE) is increasingly seen as part of a heterogeneous phenomenon that at times will include daytime lower urinary tract symptoms such as urgency, frequency and wetting - with reduced bladder storage, usually due to an overactive bladder. In turn, these may be associated with constipation and/or faecal soiling. This paper discusses these considerations in the management of NE.

Pupillary unrest correlates with arousal symptoms and motor signs in Parkinson disease.

BACKGROUND: Arousal symptoms (e.g., sleepiness) are common in Parkinson's disease, and pupillary unrest (spontaneous changes in pupil diameter) is positively associated with sleepiness. We explored pupillary unrest in Parkinson's disease. METHODS: Arousal symptoms (Epworth sleepiness scale and sleep/fatigue domain of the nonmotor symptoms scale for Parkinson's disease) and pupillary unrest were assessed in 31 participants (14 patients with Parkinson's disease, 17 controls). Effect sizes and t tests compared patients with Parkinson's disease with control participants. Correlation coefficients were calculated among arousal symptoms, pupillary unrest, and Unified Parkinson Disease Rating Scale Part III. Linear regression was performed with arousal symptoms or pupillary unrest as outcome. RESULTS: Participants with Parkinson's disease reported more arousal symptoms than controls. Pupillary unrest, arousal symptoms, and Unified Parkinson Disease Rating Scale Part III were positively correlated. The association between nonmotor symptoms scale-sleep score and pupillary unrest was higher in participants with Parkinson's disease than controls and higher in those with more Parkinsonian motor signs. Unified Parkinson Disease Rating Scale Part III was positively associated with pupillary unrest. CONCLUSIONS: Pupillary unrest correlates with motor and nonmotor features associated with Lewy-related pathology, suggesting it may be a nonmotor marker of progression in Parkinson's disease. © 2011 Movement Disorder Society.

Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy.

Sleep-related hypermotor epilepsy, or nocturnal frontal lobe epilepsy, as it was formerly called, is a focal epilepsy with mostly sleep-related seizures of hypermotor, tonic or dystonic semiology. Sleep-related hypermotor epilepsy may be attributed to a monogenetic cause with autosomal dominant inheritance. Mutations are described in different genes, including the genes for three subunits of the nicotinic acetylcholine receptor. We present a family with members over four generations exhibiting sleep-related hypermotor epilepsy. Genetic testing was available for three members from three generations, and revealed two variants in the alpha-4 subunit of the nicotinic acetylcholine receptor (one of them being novel) which are likely to be disease-causing. As these mutations were identified in cis configuration (on the same allele), we do not know whether one of the variants alone or a combination of the two is responsible for the pathogenicity.

Sleep disorders in anti-NMDAR encephalitis.

OBJECTIVE: To describe the sleep disorders in anti-NMDA receptor encephalitis (anti-NMDARe). METHODS: Patients recovering from anti-NMDARe were invited to participate in a prospective observational single-center study including comprehensive clinical, video-polysomnography (V-PSG) sleep assessment, and neuropsychological evaluation. Age- and sex-matched healthy participants served as controls. RESULTS: Eighteen patients (89% female, median age 26 years, interquartile range [IQR] 21-29 years) and 21 controls (81% female, median age 23 years, IQR 18-26 years) were included. In the acute stage, 16 (89%) patients reported insomnia and 2 hypersomnia; nightmares occurred in 7. After the acute stage, 14 (78%) had hypersomnia. At study admission (median 183 days after disease onset, IQR 110-242 days), 8 patients still had hypersomnia, 1 had insomnia, and 9 had normal sleep duration. Patients had more daytime sleepiness than controls (higher Barcelona Sleepiness Index, p = 0.02, and Epworth Sleepiness Score, p = 0.04). On V-PSG, sleep efficiency was similar in both groups, but patients more frequently had multiple and longer confusional arousals in non-REM (NREM) sleep (videos provided). In addition, 13 (72%) patients had cognitive deficits; 12 (67%) had psychological, social, or occupational disability; and 33% had depression or mania. Compared with controls, patients had a higher body mass index (median 23.5 [IQR 22.3-30.2] vs 20.5 [19.1-21.1] kg/m2; p = 0.007). Between disease onset and last follow-up, 14 (78%) patients developed hyperphagia, and 6 (33%) developed hypersexuality (2 requiring hospitalization), all associated with sleep dysfunction. CONCLUSIONS: Sleep disturbances are frequent in anti-NMDARe. They show a temporal pattern (predominantly insomnia at onset; hypersomnia during recovery), are associated with behavioral and cognitive changes, and can occur with confusional arousals during NREM sleep.

Adult obstructive sleep apnea: pathophysiology and diagnosis.

Obstructive sleep apnea (OSA) is a highly prevalent disease characterized by recurrent episodes of upper airway obstruction that result in recurrent arousals and episodic oxyhemoglobin desaturations during sleep. Significant clinical consequences of the disorder cover a wide spectrum, including daytime hypersomnolence, neurocognitive dysfunction, cardiovascular disease, metabolic dysfunction, and cor pulmonale. The major risk factors for the disorder include obesity, male gender, and age. Current understanding of the pathophysiologic basis of the disorder suggests that a balance of anatomically imposed mechanical loads and compensatory neuromuscular responses are important in maintaining upper airway patency during sleep. OSA develops in the presence of both elevated mechanical loads on the upper airway and defects in compensatory neuromuscular responses. A sleep history and physical examination is important in identification of patients and appropriate referral for polysomnography. Understanding nuances in the spectrum of presenting complaints and polysomnography correlates are important for diagnostic and therapeutic approaches. Knowledge of common patterns of OSA may help to identify patients and guide therapy.

Non-REM sleep instability in patients with major depressive disorder: subjective improvement and improvement of non-REM sleep instability with treatment (Agomelatine).

OBJECTIVE: To assess the importance of non-rapid eye movement (NREM) sleep disturbance in major depressive disorder (MDD) patients using cyclic alternating pattern (CAP) analysis, and to determine the usefulness of CAP analysis in evaluating treatment effect. METHODS: Baseline sleep-staging data and CAP analysis of NREM sleep was compared in 15 MDD patients (Hamilton depression scale score>20) and normal controls. Longitudinal evaluation of sleep changes using similar analysis during a treatment trial was also performed. ANALYSIS: A single-blinded researcher scored and analyzed the sleep of MDD and age-matched normal controls at baseline and during a treatment trial using the international scoring system as well as CAP analysis. RESULTS: MDD patients had evidence of disturbed sleep with both analyses, but CAP analysis revealed more important changes in NREM sleep of MDD patients at baseline than did conventional sleep staging. There was a significant decrease in CAP rate, time, and cycle and disturbances of phase A subtype of CAP. NREM abnormalities, observed by CAP analysis, during the treatment trial paralleled subjective responses. Analysis of subtype A phase of CAP demonstrated better sleep improvement. CONCLUSION: CAP analysis demonstrated the presence of more important NREM sleep disturbances in MDD patients than did conventional sleep staging, suggesting the involvement of slow wave sleep (SWS) in the sleep impairment of MDD patients. Improvement of NREM sleep paralleled subjective mood improvement and preceded REM sleep improvement. CAP analysis allowed objective investigation of the effect of treatment on sleep disturbances.

Adolescent pertussis-induced partial arousal parasomnia.

The aim of the study was to assess neurologic complications of pertussis infection. A file review of all children (age 7-18 years) in our hospital with serology-positive pertussis infection admitted from 1995 to 2005 yielded six patients with neurologic symptoms in whom electroencephalographic studies were performed. Data were collected on their clinical symptoms, electroencephalographic findings, final diagnosis, and outcome. The six patients accounted for 10% of all children diagnosed with pertussis during the study period. Their ages ranged from 10 to 15.5 years. All the children were referred by their primary physician because of a suspicion of epilepsy on the basis of parental reports of inefficient attempts to breathe during sleep accompanied by high-pitched sounds and sounds of suffocation, and sleepwalking. The children were amnesic for the episodes. However, findings on electroencephalogram taken during sleep were negative in all cases. The final diagnosis was partial arousal parasomnia. The symptoms of parasomnia disappeared with resolution of the symptoms of the pertussis infection. In conclusion, partial arousal parasomnia may be induced by pertussis infection. Further studies in larger groups are required to confirm this association.

Sleep architecture in children with spinal muscular atrophy type 2.

OBJECTIVE: There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls. METHODS: Seventeen SMA type 2 children (seven males, mean age 4.2 years) and 12 controls (five males, mean age 5.0 years) underwent full polysomnography to evaluate sleep architecture and microstructure by means of the Cyclic Alternating Pattern (CAP). RESULTS: Compared with the control children, the SMA type 2 patients showed a mild increase in the apnea/hypopnea index. Sleep was characterized by a decrease in the number of sleep stage shifts per hour, of percentage of stage N3, of stage R, and of sleep efficiency. On the contrary, significant increases of awakenings per hour, wake after sleep onset, and percentage of stage N1 were found. The CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes, and of A2 and A3 indexes. CONCLUSIONS: The results indicated an abnormality of sleep macrostructure and microstructure in SMA type 2 patients, which was characterized by a reduction of A2 and A3 subtypes (low and high power arousals), supporting the concept of a decreased arousability in SMA type 2 patients. Similar to a previous report on SMA type 1, the findings might be additional proof of central nervous system involvement, although these alterations are less severe than those observed in infants with SMA type 1.

Effect of valproate on the sleep microstructure of juvenile myoclonic epilepsy patients - a cross-sectional CAP based study.

OBJECTIVE: Studies looking at the effect of anti-epileptic medications on sleep microstructure of patients with epilepsy are almost non-existent. The aim of this study was to compare sleep microstructural characteristics of drug-naïve juvenile myoclonic epilepsy (JME) patients with those on valproate (VPA) monotherapy. METHODS: Three age- (p = 0.287) and gender- (p = 0.766) matched groups (N = 20 in each group): (1) drug-naïve JME (mean age: 21.2 ± 4.06 years; M : F = 9:11); (2) JME on VPA (mean age: 21.85 ± 4.28 years; M : F = 11:9); (3) healthy controls (mean age: 23.2 ± 3.82 years; M : F = 9:11) underwent overnight polysomnography. Scoring and analysis of arousals American Sleep Disorders Association (ASDA, 2002), cyclic alternating pattern (CAP) (Terzano et al., 2002) parameters were performed. Comparison of arousal and CAP parameters was performed using one-way ANOVA, followed by pairwise comparisons using Fisher's LSD test (p ≤ 0.05). RESULTS: Rapid eye movement (REM) arousal indices were higher in JME patients (Group 1 [p = 0.002] and Group 2 [p <0.001]), whereas the overall and NREM arousal indices were comparable between the three groups. CAP rate was higher in JME patients as compared to controls (p <0.001). Duration of phase A and its subtypes (p <0.001) was reduced in drug-naïve patients as compared to VPA group and controls. Finally, percentage of phase A1 (p = 0.003) was decreased and A3 (p = 0.045) was increased in drug-naïve patients as compared to VPA group and controls. CONCLUSIONS: We found significant alterations in REM arousal indices and several CAP parameters in JME patients. However, many of these alterations were not seen in the valproate group. This might indicate that anti-epileptic medications such as valproate may beneficially modulate arousal instability in JME patients, and hence promote sleep quality and continuity.

Nociceptive responsiveness during slow-wave sleep and waking in the rat.

Brainstem neurons that are thought to modulate pain are reported to have state-dependent discharge rates. Yet, the effect of behavioral state upon nociceptive transmission has not been well studied. Therefore, we examined responses to noxious thermal stimulation of the rat hindpaw presented during different behavioral states. Noxious thermal stimuli were applied to rats as they spontaneously cycled through waking and sleeping states. Two different methods of heating the paw - a focused light bulb ("radiant heat") and a CO2 laser ("laser heat")-were employed. Regardless of the heating method used, rats withdrew from noxious thermal stimulation when it was applied in each behavioral state tested. When rats were tested with radiant heat, the withdrawal latency from noxious heat was shorter during slow-wave sleep than during waking. In contrast, when tested with laser heat, there was no difference in either the response latency or magnitude evoked by noxious heat across sleep/wake states. Despite the fact that rats withdrew from noxious heat (using either method of application) applied during sleep, the rats quickly returned to sleep afterwards. The latency to sleep after noxious stimulation was significantly greater during waking than during sleeping. The behavioral response to noxious thermal stimulation includes both an initial motor withdrawal which is enhanced during sleep and arousal or alerting which is suppressed during sleep. Therefore, pain evokes at least two distinct reactions that are differentially modulated across sleep/wake cycles.

Sleep and breathing in Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a genetic disorder, with hypotonia being the predominant feature in infancy, and developmental delay, obesity, and behavioral problems becoming more prominent in childhood and adolescence. Children with this disorder frequently suffer from excessive daytime sleepiness and have a primary abnormality of the circadian rhythm of rapid eye movement sleep. They also have primary abnormal ventilatory responses to hypoxia and hypercapnia, and these abnormalities may be exacerbated by obesity. Children with PWS are at risk of a variety of abnormalities of breathing during sleep, including obstructive sleep apnea and sleep-related alveolar hypoventilation. Clinical evaluation should include a careful history of sleep-related symptoms and assessment of the upper airway and lung function. Polysomnography should be considered for those with symptoms suggestive of sleep-disordered breathing. Treatment options depend on the underlying problem, but may include behavioral interventions, weight control, adenotonsillectomy, and nocturnal ventilation.

[Arousal of respiratory origin and upper airway resistance syndrome: pathophysiological and diagnostic aspects]. / Arousals de origen respiratorio y síndrome de aumento de resistencia de la vía aérea superior: aspectos fisiopatológicos y diagnósticos.

INTRODUCTION: The description of Upper Airway Resistance Syndrome (UARS) let us to recognize the importance of the pair 'respiratory effort-arousal' on sleep-disordered breathing pathophysiology. DEVELOPMENT: First part of this paper reviews knowledge about respiratory arousal pathophysiology. Arousal response is normally needed to end obstructive respiratory episodes, but it is also the cause of sleep fragmentation. Among respiratory stimuli able to provoke arousal (respiratory effort, hypoxemia and hypercapnia), respiratory effort is the most constant. Neurophysiological mechanisms involved in arousal, sleep and vegetative consequences, and the possible role of non visible arousals, are also discussed. In UARS, because of the absence of apnea/hypopnea and significative O2 desaturations, arousals are induced by the increased respiratory effort. Diagnosis needs the simultaneous recording of polysomnography and esophageal pressure. Some symptoms and signs of UARS are similar to those of Obstructive Sleep Apnea Syndrome. However, UARS shows any differences: a lower Body Mass Index, less constant snoring, males and females are similarly affected or higher frequency of craniofacial abnormalities. Diagnostic difficulties may be due to confusion between hypopneas and episodes of increased resistance of upper airway, or to the lack of definitive diagnostic criteria. Finally, differential diagnosis needs a broad knowledge of disorders of excessive daytime sleepiness.

Do respiratory cycle-related EEG changes or arousals from sleep predict neurobehavioral deficits and response to adenotonsillectomy in children?

STUDY OBJECTIVES: Pediatric obstructive sleep apnea (OSA) is associated with hyperactive behavior, cognitive deficits, psychiatric morbidity, and sleepiness, but objective polysomnographic measures of OSA presence or severity among children scheduled for adenotonsillectomy have not explained why. To assess whether sleep fragmentation might explain neurobehavioral outcomes, we prospectively assessed the predictive value of standard arousals and also respiratory cycle-related EEG changes (RCREC), thought to reflect inspiratory microarousals. METHODS: Washtenaw County Adenotonsillectomy Cohort II participants included children (ages 3-12 years) scheduled for adenotonsillectomy, for any clinical indication. At enrollment and again 7.2 ± 0.9 (SD) months later, children had polysomnography, a multiple sleep latency test, parent-completed behavioral rating scales, cognitive testing, and psychiatric evaluation. The RCREC were computed as previously described for delta, theta, alpha, sigma, and beta EEG frequency bands. RESULTS: Participants included 133 children, 109 with OSA (apnea-hypopnea index [AHI] ≥ 1.5, mean 8.3 ± 10.6) and 24 without OSA (AHI 0.9 ± 0.3). At baseline, the arousal index and RCREC showed no consistent, significant associations with neurobehavioral morbidities, among all subjects or the 109 with OSA. At follow-up, the arousal index, RCREC, and neurobehavioral measures all tended to improve, but neither baseline measure of sleep fragmentation effectively predicted outcomes (all p > 0.05, with only scattered exceptions, among all subjects or those with OSA). CONCLUSION: Sleep fragmentation, as reflected by standard arousals or by RCREC, appears unlikely to explain neurobehavioral morbidity among children who undergo adenotonsillectomy. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, ID: NCT00233194.

Sleep architecture in infants with spinal muscular atrophy type 1.

OBJECTIVE: Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls. METHODS: Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP). RESULTS: Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients. CONCLUSION: The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP subtypes. We hypothesize that SMA1 patients have reduced arousability during non-rapid eye movement sleep, which could be interpreted as additional evidence of central nervous system involvement in this disease.

Sleep-related groaning: prevalence and characteristics in a cohort of patients with suspected obstructive sleep apnea.

CONCLUSION: Nocturnal groaning has the same prevalence in patients referred for diagnosis of sleep-disordered breathing as among other populations referred for sleep studies. The respiratory tracings in these patients have a distinct appearance that is possible to recognize with a polygraphic recording and thereby prevent the pattern from being misdiagnosed as central apneas. OBJECTIVES: The aim of this study was first to estimate the prevalence of groaning in patients referred for diagnosis of sleep-related breathing disorders. Second, we wanted to describe the respiratory pattern in order to distinguish the patients from patients with sleep apnea. METHODS: This was a prospective study in 1004 patients, performed in the Sleep Unit in our ENT Department, during a 12 month period. RESULTS: Four patients were diagnosed with video polysomnography, and the diagnosis of nocturnal groaning was confirmed. The prevalence of groaning in our sleep laboratory was 0.4%. All the patients had a mild form of sleep-related disturbance, and all groaning episodes occurred during REM sleep. The groaning events appeared in clusters. The length of each groan varied between 4 and 38 s. The number of events in a period varied between 2 and 11, and the length of each groaning period ranged between 11 and 168 s.

[Diagnostic criteria and treatment for sleep-disordered breathing: RERA]. / Critérios diagnósticos e tratamento dos distúrbios respiratórios do sono: RERA.

In polysomnography, RERA is defined as a respiratory parameter that indicates an arousal associated with a respiratory event and an increase in respiratory effort. Initially, RERA was described by means of esophageal manometry for the evaluation of respiratory effort. This greater respiratory effort occurs as a response to an increase in upper airway resistance, which is a factor present in the pathophysiology of sleep-disordered breathing, such as obstructive sleep apnea syndrome and upper airway resistance syndrome. Later, the use of a nasal pressure cannula was reported to be a reliable means of identifying airflow limitation and one that is more sensitive than is a thermistor. In addition, the nasal pressure cannula method has been used as a surrogate for esophageal manometry in the identification of periods in which upper airway resistance increases. Consequently, the American Academy of Sleep Medicine recommend the use of either method for the identification of RERA, which is defined by the flattening of the inspiratory curve, characteristic of airflow limitation. Although RERA has been identified and evaluated in current medical practice, it has yet to be standardized. Therefore, it is recommended that polysomnographic reports indicate which abnormal respiratory events were taken into consideration in the evaluation of the severity of sleep-disordered breathing.