Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported. We conducted a retrospective analysis on video electroencephalography (EEG) recordings in four subjects with AHDS, focused on paroxysmal events. Among other manifestations recorded on EEG, we diagnosed repetitive sleep starts (RSS) in all subjects. RSS are a paroxysmal nonepileptic phenomenon occurring during sleep, similar to epileptic spasms in their clinical and electromyography characteristics, but not related to any EEG change. This is the first report on RSS in AHDS. We present video-EEG polygraphic documentation, suggesting that RSS could be underestimated or misdiagnosed. The importance of a correct diagnosis is crucial in a therapeutic perspective.

Lateral Subdermic Venous Plexus Insufficiency: The Association of Varicose Veins with Restless Legs Syndrome and Nocturnal Leg Cramps.

PURPOSE: To determine whether nocturnal symptoms of restless legs syndrome (RLS) and muscle cramps in the legs are associated specifically with lateral subdermic venous plexus (LSVP) insufficiency and whether treatment can provide symptomatic relief. MATERIALS AND METHODS: A retrospective cross-sectional observational study of 506 patients at a single site analyzed whether RLS or nighttime leg cramping symptoms were associated with venous reflux in the LSVP using comprehensive venous ultrasound. The treatment outcomes of ultrasound-guided foam sclerotherapy (USGFS) were followed up for 1 year. RESULTS: Of 209 patients who reported restless legs symptoms, 179 (85%) demonstrated an abnormal LSVP. A total of 214 patients reported nighttime muscle cramping, of whom 197 (92%) demonstrated an abnormal LSVP. Among 124 patients presenting with both the symptoms, 113 (91%) demonstrated an abnormal LSVP. Conversely, of 83 patients who presented with neither RLS nor nocturnal cramping, 2 (2%) had an abnormal LSVP. Among 242 symptomatic patients with an abnormal LSVP who underwent treatment, the technical success rate was 100%. At 90-day follow-up, 224 patients (93%) reported continued relief, which was maintained at 93% (224/242) at follow-up at 1 year. When substratified, 90 patients presented primarily with RLS or cramping and showed only LSVP reflux, and when treated, all 90 (100%) had significant or complete relief of the symptoms. CONCLUSIONS: LSVP insufficiency demonstrates an association with symptoms of RLS and nocturnal leg cramps. LSVP treatment using USGFS demonstrated high technical and clinical success rates, with symptomatic relief up to 1 year, most pronounced when the LSVP was the only treated vein.

Sleep-Related Rhythmic Movements and Sleep Terrors: A Possible Common Neurophysiological Background in a Preschool Boy.

None: We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were observed. In addition to the association between a sleep movement disorder and a disorder of arousal, our case shows that sleep-related rhythmic movements can arise not only during relaxed wakefulness or during a stable sleep stage, but also during a less clearly defined sleep stage during which it is difficult to further subtype non-rapid eye movement sleep. On the contrary, the portion of sleep without rhythmic movement episodes were clearly depicted with their physiological features. These findings might be of relevance for understanding the pathophysiology of both sleep-related rhythmic movements and sleep terrors and emphasize the importance to assess sleep using polysomnography, especially when episodes are frequent and injurious. The neurophysiological information obtained from this assessment might be helpful and guide an eventual treatment option.

Sleep-related rhythmic movements and rhythmic movement disorder beyond early childhood.

INTRODUCTION: Sleep-related rhythmic movements (SRRMs) are common in young children and become less prevalent with increasing age. When SRRMs significantly interfere with sleep and/or affect daytime functioning, potentially resulting in injury, rhythmic movement disorder (SRRMD) is diagnosed. OBJECTIVE: The aim of our study was to assess clinical comorbidities, types of SRRMs, sleep stage/wakefulness distribution during night, and age-dependence of these parameters. MATERIAL AND METHODS: In sum, 45 patients (age range 1-26 years, mean age 10.56 ± 6.4 years, 29 men) were clinically examined for SRRMs or SRRMD. Nocturnal polysomnography (PSG) was recorded in 38 patients. To evaluate clinical and sleep comorbidity, the cohort of 38 patients was divided according to age into four groups: (1) younger than 5 years (N = 7), (2) 5-9 years (N = 12), (3) 10-14 years (N = 11), and (4) ≥ 15 years (N = 8). RESULTS: A clear relationship between perinatal risk factors and developmental disorders (attention deficit hyperactivity disorder - ADHD, specific learning disability) was found which extended population prevalence at least five times. A total of 62 recordings were evaluated in 38 patients; SRRMs were found in PSG in 31 of 38 patients (82%). No age-dependent correlation between type of SRRMs and sleep stage/wakefulness distribution during the night was observed. However, when all recordings were correlated together, rolling stereotypes occurred more frequently in REM sleep, and rocking stereotypes in superficial NREM sleep. CONCLUSION: Developmental disorders and perinatal risk factors were connected with SRRMs and SRRMD in children and young adults. Rolling movements were significantly associated with REM stage and rocking stereotypes with superficial NREM sleep, independent of age.

Nocturnal leg cramps: Prevalence and associations with demographics, sleep disturbance symptoms, medical conditions, and cardiometabolic risk factors.

BACKGROUND: Nocturnal leg cramps (NLC) are common and poorly understood. OBJECTIVE: To determine the prevalence of NLC and associations with cardiometabolic, sleep, and behavioral risk factors in the US population. DESIGN: Cross-sectional epidemiology. PARTICIPANTS: National Health and Nutrition Examination Survey, 2005-2006 and 2007-2008 waves. MAIN OUTCOME(S) AND MEASURE(S): NLC were assessed with, "In the past month, how often did you have leg cramps while trying to sleep?" Responses were categorized as None, Mild, or Moderate-Severe. Demographics, medical history, sleep disturbances, and cardiometabolic risk factors were evaluated using the 2005-2006 dataset. Variables that demonstrated significant relationships to NLC after adjusting for age, sex, education, and BMI were assessed in the 2007-2008 dataset. Variables that were still significant were entered into a forward stepwise regression model combining both waves, to determine which variables best explained the variance in NLC. RESULTS: Prevalence was 24-25% reporting mild and 6% reporting moderate-severe NLC. NLC increased with age, lower education, unemployment, shorter sleep duration, all assessed sleep symptoms (nocturnal "leg jerks", snoring, snorting/gasping, difficulty falling asleep, difficulty maintaining sleep, non-restorative sleep, sleepiness, use of sleep medications), higher BMI, smoking, medical history (hypertension, heart failure, angina, stroke, arthritis, respiratory disease, and cancer), depression symptoms, and biomarkers (CRP, HbA1c, calcium, cadmium, red blood cells). Stepwise analysis showed that moderate-severe nocturnal leg cramps were associated with (in decreasing order of partial R2): leg jerks, poor overall health, arthritis, difficulty falling asleep, age, nonrestorative sleep, red blood cell count, lower education, angina, and difficulty maintaining sleep. CONCLUSIONS AND RELEVANCE: Based on this first large, representative study, NLC occurring >5x per month are reported by 6% of the adult US population. Sleep disturbance symptoms and health conditions are associated with higher frequency of NLC, suggesting that NLC is a marker, and possibly contributor, to poor sleep and general health.

Parasomnia Overlap Disorder with Sexual Behaviors during Sleep in a Patient with Obstructive Sleep Apnea.

ABSTRACT: Sleep-related abnormal sexual behaviors (sexsomnia) are classified as a subtype of NREM sleep parasomnias. Sexsomnia has been reported as part of parasomnia overlap disorder (POD) in two other patients. We present the case of a 42-year-old male patient with video-polysomnography (vPSG) documented POD. The patient had sleepwalking, sleep-related eating, confusional arousals, sexsomnia, sleeptalking, and REM sleep behavior disorder (RBD). Confusional arousals and RBD were documented during the vPSG. This case had the added complexity of obstructive sleep apnea (OSA) playing a role in sleepwalking and sleep related eating, with good response to nasal continuous positive airway pressure (nCPAP). The sexsomnia did not respond to nCPAP but responded substantially to bedtime clonazepam therapy.

Reducing symptoms in women with chronic anorexia nervosa. A pilot study on the effects of bright light therapy.

OBJECTIVE: To examine the effect of bright light therapy on the sleep-wake rhythm, the menstrual cycle, mood, and key eating pathology symptoms in chronic anorexia nervosa. METHODS: Five chronic anorectic women (mean duration of illness: 15.3 years) received 5 daily sessions of 30 minutes bright light therapy (10,000 LUX). Participants completed a diagnostic interview and questionnaires at pre-test, post-test and at a three month follow-up. RESULTS: At follow up there was a slight improvement on core eating pathology, a fair decrease of depressive symptoms and an clinically important improvement on global distress. CONCLUSIONS: Bright light therapy has on short term a positive effect on the physiological and psychological well being of chronic anorectic women. However, at follow-up the effects were partly lost. It is recommended to enhance the exposure period and repeat the treatment after 3 months.

Obstructive sleep apnoea is associated with diabetes in sleepy subjects.

BACKGROUND: Although obstructive sleep apnoea (OSA) has been linked to insulin resistance and glucose intolerance, it is unclear whether there is an independent association between OSA and diabetes mellitus (DM) and whether all patients with OSA are at risk. The objective of this study was to determine the association between OSA and DM in a large cohort of patients referred for sleep diagnostic testing. METHODS: A cross-sectional analysis of participants in a clinic-based study was conducted between July 2005 and August 2007. DM was defined by self-report and concurrent use of diabetic medications (oral hypoglycaemics and/or insulin). Sensitivity analysis was performed using a validated administrative definition of diabetes. OSA was defined by the respiratory disturbance index (RDI) using polysomnography or ambulatory monitoring. Severe OSA was defined as an RDI > or = 30/h. Subjective sleepiness was defined as an Epworth Sleepiness Scale score > or = 10. RESULTS: Complete data were available for 2149 patients. The prevalence of DM increased with increasing OSA severity (p<0.001). Severe OSA was associated with DM following adjustment for patient demographics, weight and neck circumference (odds ratio (OR) 2.18; 95% CI 1.22 to 3.89; p<0.01). Following a stratified analysis, this relationship was observed exclusively in sleepy patients (OR 2.59 (95% CI 1.35 to 4.97) vs 1.16 (95% CI 0.31 to 4.37) in non-sleepy patients). CONCLUSIONS: Severe OSA is independently associated with DM in patients who report excessive sleepiness. Future studies investigating the impact of OSA treatment on DM may wish to focus on this patient population.

A multigenerational family with persistent sleep related rhythmic movement disorder (RMD) and insomnia.

In the International Classification of Sleep Disorders 2nd Edition (ICSD-2), sleep related rhythmic movement disorder (RMD) is classified as a disorder characterized by rhythmic movements of large muscle groups in different parts of the body. These are repetitive, stereotyped, rhythmic motor behaviors that occur predominantly during drowsiness or sleep,and are typically seen in infants and children. Episodes often occur at sleep onset, at any time during the night, and during quiet wakeful activities at a frequency of 0.5-2 sec), lasting <15 min. The prevalence is high in infants (59%), dropping to 5% at the age of 5 years. When persisting to older childhood or beyond, association with mental retardation, autism, or other significant pathology is reported. Few cases in adults of normal intelligence have been reported in the literature. There is a strong association with attention deficit hyperactivity disorder, suggesting a similar pathogenetic mechanism. There is also one adult case report occurring during strictly REM sleep. Mayer et al reported 24 subjects with RMD that persisted into adolescence and adulthood. Twenty of the subjects were adults, and 16 of them had the condition since childhood. Of these 20, 16 had no other sleep disorders (but 2 had a family history of RMD), and 4 had obstructive sleep apnea. This was the first ever report of familial RMD.

Rhythmic movements during sleep: a physiological and pathological profile.

Rhythmic movement disorder (RMD) consists of rhythmic movements (RMs) that occur on falling asleep or during sleep, can involve any part of the body and have a reported frequency ranging from 0.5 to 2 Hz. RMs have been reported to occur in a high proportion of normal children as a self-limiting phenomenon starting and remitting within early infancy. However, there have also been descriptions of forms of RMD occurring against a background of mental retardation or persisting beyond childhood, or having onset in adulthood. So, the occurrence of RMs can be regarded as both a physiological and a pathological phenomenon. The few polysomnographic studies conducted in this field have shown that, in some forms of RMD, RMs are highly linked to arousal fluctuations. However, the mechanisms that underlie the genesis of RMs and are capable of leading to both physiological and pathological patterns of RMs are not fully understood. Here we emphasise the possibility that the central motor pattern generator, recently hypothesised to play a role in the genesis of motor phenomena during sleep in the cases of parasomnia and epileptic seizures, might account for the occurrence of RMs in both physiological and pathological conditions.

[Sleep disorders and mental disorders]. / Søvnforstyrrelser og psykiske lidelser.

BACKGROUND: Recent research has revealed a lot of the secrets of sleep and how sleep influences our daily life and mental functioning. MATERIAL AND METHODS: Current knowledge on the interaction between sleep disturbances and mental disorders is reviewed. The review is based on relevant literature identified by search in Medline and PsycInfo. RESULTS: Research shows that sleep as a psychobiological phenomenon interacts with the processes of mental disorders. The best evidence for interactions between sleep disturbances and mental problems is found in depression, and sleep disturbances over some weeks have been found to be a predictor for depressive disorders. INTERPRETATION: Clinicians must distinguish between primary chronic sleep disorders of functional origin and secondary sleep disorders as part of a psychiatric condition. The former category should be treated by non-pharmacological interventions, while the latter should be adequately treated in a biopsychosocial model.

Restless legs syndrome: a sensorimotor disorder of sleep/wake motor regulation.

Restless legs syndrome (RLS) remains an underappreciated sensorimotor disorder of sleep/wake regulation. It is one of the few sensorimotor disorders that is provoked by rest and that also follows a clear circadian pattern. Recent epidemiologic studies have verified that the condition is common in populations derived from the north and west of Europe, and have begun to uncover some of the genetic substrate of the disorder. New instruments have been developed to facilitate diagnosis and assessment of severity. The pathogenesis of the condition remains uncertain, but recent discoveries implicate areas of the nervous system from the spinal cord up to the basal ganglia. A current hypothesis undergoing vigorous exploration is that the condition results from a deficiency of dopaminergic function based on abnormalities of iron transport and storage. Therapeutically, studies have shown the dopamine agonists to be the most reliable treatment for severe cases, whereas other recent studies have successfully utilized a number of other medications, including levodopa, opioids, and anticonvulsants. New standards provide guidelines for management of RLS and make specific pharmacotherapeutic recommendations.