Summary
Recurrent dream‐enactment behaviours (DEB) and rapid eye movement (REM) sleep without atonia (RSWA) are two diagnostic hallmarks of REM sleep behaviour disorder (RBD), a specific prodrome of ...α‐synucleinopathy. Whilst isolated RSWA (without DEB) was suggested as a prodrome of RBD, the implication of ‘isolated’ recurrent DEB remains under‐investigated. In this cross‐sectional study, we sought to investigate neurodegenerative markers amongst the first‐degree relatives (FDRs, aged >40 years) of patients with RBD who underwent clinical assessment for DEB, neurodegenerative markers, and video‐polysomnography assessment. Isolated recurrent DEB was defined as: (i) three or more episodes of DEB, (ii) had a DEB episode in the past 1 year, and (iii) subthreshold RSWA. We identified 29 FDRs (mean SD age 53.4 8.3 years, 55.2% male) with isolated recurrent DEB and 98 age and sex‐matched FDRs as controls. Isolated DEB was associated with nightmare (27.6% versus 11.2%, p = 0.02), and the DEB group had a higher rate of current smoking (27.6% versus 3.1%, p = 0.006), type 2 diabetes mellitus (24.1% versus 10.2%, p = 0.003), anxiety disorder (24.1% versus 11.2%, p = 0.02), and constipation (hard lump of stool, 31.0% versus 7.1%, p < 0.001) than the control group. The present findings revealed that family relatives of patients with RBD with isolated recurrent DEB have increased risk of RBD and neurodegenerative features, which adds to the emerging data that isolated DEB is a prodromal feature of RBD and α‐synucleinopathy neurodegeneration.
Abstract Introduction Changes in personality have been described in Parkinson's disease (PD), with suggestion that those with established disease tend to be risk averse with a disinclination for ...addictive behaviour. However, little is known about the earliest and prodromal stages. Personality and its relationship with addictive behaviours can help answer important questions about the mechanisms underlying PD and addiction. Methods 941 population-ascertained PD subjects within 3.5 years of diagnosis, 128 patients with rapid eye movement sleep behaviour disorder (RBD) and 292 control subjects were fully characterised for motor symptoms, non-motor symptoms and across the following 5 personality domains: 1) neuroticism 2) extraversion 3) conscientiousness 4) agreeableness 5) openness using the Big Five Inventory. Results Patients with early PD were more neurotic (p < 0.001), less extraverted (p < 0.001) and less open than controls (p < 0.001). RBD subjects showed the same pattern of being more neurotic (p < 0.001), less extraverted (p = 0.03) and less open (p < 0.001). PD patients had smoked less (p = 0.02) and drunk less alcohol (p = 0.03) than controls, but caffeine beverage consumption was similar. Being more extraverted (p < 0.001), more open (p < 0.001), and less neurotic (p < 0.001) predicted higher alcohol use, while being more extravert (p = 0.007) and less agreeable (p < 0.001) was associated with smoking more. Conclusions A similar pattern of personality changes is seen in PD and RBD compared to a control population. Personality characteristics were associated with addictive behaviours, suggestive of a common link, but the lower rates of addictive behaviours before and after the onset of motor symptoms in PD persisted after accounting for personality.
A screening tool can greatly facilitate the identification of individuals with rapid eye movement (REM) sleep behaviour disorder (RBD). Currently, the REM sleep behaviour disorder screening ...questionnaire (RBDSQ) is widely used, but its diagnostic accuracy has varied across previous studies. The aim of the present study was to systematically assess the diagnostic performance of the RBDSQ. We comprehensively searched for studies that evaluated the diagnostic performance of the RBDSQ. A bivariate mixed-effects model was used to summarize the diagnostic accuracy of the RBDSQ. Subgroup analyses were performed according to the study design and the different populations included in the studies. Ten studies were included. Using a cutoff value of 5, the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio were 0.91 (95% CI 0.85–0.95), 0.77 (95% CI 0.66–0.85), 4.00 (95% CI 2.60–6.10), 0.12 (95% CI 0.07–0.19), and 34 (95% CI 16–71), respectively. A subgroup analysis revealed that the RBDSQ had excellent diagnostic accuracy for RBD screening in the general population. However, its performance in specific patient populations, especially patients with Parkinson’s disease, was less satisfactory. In conclusion, the RBDSQ is an effective diagnostic screening tool for RBD in the general population, but its performance in subjects with specific neurological disorders requires more comprehensive assessments.
Summary Animal and human studies have shown that disorders of the autonomic nervous system may influence sleep physiology. Conversely, sleep disorders may be associated with autonomic dysfunctions. ...The current review describes the clinical presentation, supposed pathogenetic mechanisms and the diagnostic and prognostic implications of impaired cardiovascular autonomic control in sleep disorders. This dysfunction may result from a common pathogenetic mechanism affecting both autonomic cardiovascular control and sleep, as in fatal familial insomnia, or it may be mainly caused by the sleep disorder, as observed in obstructive sleep apnoea. For other sleep disorders, like primary insomnia, restless legs syndrome, narcolepsy type 1 and rapid eye movement sleep behaviour disorder, the causal link with the autonomic dysfunction and its possible impact on health remains unsettled. Given its clinical implications, most of the data available suggest that a systematic assessment of the association between sleep disorders and impaired autonomic control of the cardiovascular system is warranted. Understanding the mechanism of this association may also yield insights into the interaction between the autonomic nervous system and sleep.
Summary Melatonin is a physiological hormone involved in sleep timing and is currently used exogenously in the treatment of primary and secondary sleep disorders with empirical evidence of efficacy, ...but very little evidence from randomised, controlled studies. The aim of this meta-analysis was to assess the evidence base for the therapeutic effects of exogenous melatonin in treating primary sleep disorders. An electronic literature review search of MEDLINE (1950-present) EMBASE (1980- present), PsycINFO (1987- present), and SCOPUS (1990- present), along with a hand-searching of key journals was performed in July 2013 and then again in May 2015. This identified all studies that compared the effect of exogenous melatonin and placebo in patients with primary insomnia, delayed sleep phase syndrome, Non 24-hour sleep wake syndrome in people who are blind, and REM-Behaviour Disorder. Meta-analyses were performed to determine the effect of magnitude in studies of melatonin in improving sleep. A total of 5030 studies were identified; of these citations, 13 were included for review based on the inclusion criteria of being: double or single-blind, randomised and controlled. Results from the meta-analyses showed the most convincing evidence for exogenous melatonin use was in reducing sleep onset latency in primary insomnia (p=0.002), delayed sleep phase syndrome (p<0.0001), and regulating the sleep-wake patterns in blind patients compared with placebo. These findings highlight the potential importance of melatonin in treating certain first degree sleep disorders. The development of large-scale, randomised, controlled trials is recommended to provide further evidence for therapeutic use of melatonin in a variety of sleep difficulties.
Background and purpose
Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is characterized by abnormal behaviours during REM sleep. Several studies showed that iRBD is a prodromal stage ...of synucleinopathies. Therefore, identifying iRBD in the general population is of utmost importance. In this study, we explore whether the assessment of rest–activity rhythm features can distinguish patients with iRBD from patients with disorders characterized by other pathological motor activity during sleep and healthy controls.
Methods
Nineteen patients with video‐polysomnographic diagnosis of iRBD, 39 patients with other disorders with motor activity during sleep 19 with restless leg syndrome (RLS) and 20 with untreated sleep apnea syndrome (SAS) and 16 healthy controls underwent 2‐week actigraphy and video‐polysomnography, and completed REM sleep behavior disorder screening questionnaires. Non‐parametric analyses were applied to assess the rest–activity rhythm features.
Results
Patients with iRBD showed lower sleep efficiency, increased estimated wake after sleep onset and increased frequency of prolonged activity bouts compared to those with RLS and controls, while no difference emerged compared with SAS patients. Moreover, patients with iRBD presented increased occurrence of estimated nap in comparison to those with RLS, those with SAS and controls. The I < O, a 24‐h measure that expresses the relationship between nocturnal and diurnal motor activity intensity, distinguished patients with iRBD from those with RLS, those with SAS and controls, with an area under the curve greater than that of REM sleep behavior disorder screening questionnaires. An I < O of 98.32 shows the best balance between sensitivity (63.2%) and specificity (89.1%).
Discussion
The I < O index distinguished iRBD patients from those with other pathological motor activity during sleep and controls, confirming its use as an objective measure suitable to screen large at‐risk populations.
Summary Even though the most impressive manifestation of narcolepsy is excessive sleepiness, paradoxically a significant number of patients have trouble sleeping at night. A wide array of alterations ...can affect the night-time sleep of a narcoleptic patient, and the aim of this review is to increase awareness on this issue, thereby enhancing the care of narcoleptic patients by more specific approaches to their disturbed night sleep. This review covers a broad variety of nocturnal sleep features in narcolepsy. Starting from animal models and the clinical features of patients, the paper then discusses the many comorbid conditions found in narcolepsy at night, the most advanced methods of analysis and the few recent advances in the specific treatment of night sleep in narcoleptic patients.
Psychiatric symptoms in Salla disease Aulanko, Ida; Rahikkala, Elisa; Moilanen, Jukka
European child & adolescent psychiatry,
10/2023, Letnik:
32, Številka:
10
Journal Article
Recenzirano
Odprti dostop
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological ...spectrum of SD’s clinical phenotype is well defined, psychotic symptoms in SD remain unreported. We reviewed the presence of psychiatric symptoms in patients diagnosed with SD. Medical records of all SD patients at Oulu University Hospital during the years 1982–2015 were systematically reviewed to evaluate the presence of psychiatric symptoms. Psychiatric symptoms were frequently associated with SD (10/24, 42%), and two patients were described as developing psychosis as adolescents. We reported their clinical characteristics in detail and assessed the prevalence of psychiatric symptoms in a cohort of 24 patients. Other psychiatric factors associated with SD were sleeping disorders (8/24, 32%), aggressive behaviour disorders or restlessness (6/24, 25%), and off-label antipsychotic medication (4/24, 17%). This report expands the knowledge of the phenotypic spectrum of SD and demonstrates the importance of recognising the possibility of psychiatric symptoms, including psychosis, in persons with SD.
Purpose of review
Rapid eye movement (REM) sleep behaviour disorder (RBD) is considered the expression of the initial neurodegenerative process underlying synucleinopathies and constitutes the most ...important marker of their prodromal phase. This article reviews recent research from longitudinal research studies in isolated RBD (iRBD) aiming to describe the most promising progression biomarkers of iRBD and to delineate the current knowledge on the level of prediction of future outcome in iRBD patients at diagnosis.
Recent findings
Longitudinal studies revealed the potential value of a variety of biomarkers, including clinical markers of motor, autonomic, cognitive, and olfactory symptoms, neurophysiological markers such as REM sleep without atonia and electroencephalography, genetic and epigenetic markers, cerebrospinal fluid and serum markers, and neuroimaging markers to track the progression and predict phenoconversion. To-date the most promising neuroimaging biomarker in iRBD to aid the prediction of phenoconversion is striatal presynaptic striatal dopaminergic dysfunction.
Summary
There is a variety of potential biomarkers for monitoring disease progression and predicting iRBD conversion into synucleinopathies. A combined multimodal biomarker model could offer a more sensitive and specific tool. Further longitudinal studies are warranted to iRBD as a high-risk population for early neuroprotective interventions and disease-modifying therapies.
Human foetuses and newborns smile first during sleep, before they smile while awake and interacting with caregivers. Whether smiling persists during adult sleep, and expresses inner joy, is yet ...unknown. Smiles were looked for during night‐time video‐polysomnography combined with electromyography of the zygomatic and orbicularis oculi muscles in 100 controls, 22 patients with sleepwalking and 52 patients with rapid eye movement (REM) sleep behaviour disorder. Autonomous reactions (heart rate and level of vasoconstriction) and the presence of rapid eye movements were examined during smiles and laughs. On visual examination of the face video clips synchronous with zygomatic contraction, 8% of controls smiled while asleep (7% in REM sleep and 1% in non‐REM sleep). Some patients with sleepwalking also smiled and laughed during N2 sleep and N3 parasomnia. Half of the patients with REM sleep behaviour disorder smiled and one‐third laughed, mostly during REM sleep. The 173 happy faces included mild smiles (24.8%), open‐mouth smiles (29.5%) and laughs (45.7%). More than half of the smiles were the Duchenne (genuine) type, including an active closure of the eyelids. Approximately half of the smiles and laughs were temporally associated with rapid eye movements. There was no increased heart rate variability during smiles and laughs. Two scenic behaviours including smiles and laughs suggested that the happy facial expression was associated with a happy dreaming scenario. Smiling and laughing occasionally persist during adult sleep. There are several lines of evidence suggesting that these happy emotional expressions reflect a true inner mirth.
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