Isolated REM sleep behaviour disorder: current diagnostic procedures and emerging new technologies

Abstract

Isolated REM sleep behaviour disorder (iRBD) is characterised by dream enactment behaviours, such as kicking and punching while asleep, and vivid/violent dreams. It is now acknowledged as a prodromal phase of neurodegenerative disease—approximately 80% of people with iRBD will develop dementia with Lewy Bodies, Parkinson’s disease or another degenerative brain disease within 10 years. It is important that neurologists and other clinicians understand how to make an early accurate diagnosis of iRBD so that affected people can have the opportunity to take part in clinical trials. However, making a diagnosis can be clinically challenging due to a variety of reasons, including delayed referral, symptom overlap with other disorders, and uncertainty about how to confirm a diagnosis. Several methods of assessment are available, such as clinical interview, screening questionnaires and video polysomnography or ‘sleep study’. This review aims to support clinical neurologists in assessing people who present with symptoms suggestive of iRBD. We describe the usefulness and limitations of each diagnostic method currently available in clinical practice, and present recent research on the utility of new wearable technologies to assist with iRBD diagnosis, which may offer a more practical assessment method for clinicians. This review highlights the importance of thorough clinical investigation when patients present with suspected iRBD and emphasises the need for easier access to diagnostic procedures for accurate and early diagnosis.

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians

“…The RBDSQ has been found to have high diagnostic accuracy in healthy controls, with 96% sensitivity and 96% specificity. However, when including patients with other sleep disorders, the specificity drops to only 56% 19 . Validation of current scales are necessary to ensure reproducibility, reliability, and accuracy as polysomnography‐defined RBD data become available.…”

Rapid eye movement sleep behavior disorder and its relation to Parkinson's disease: The potential of graph measures as brain biomarkers to identify the underlying physiopathology of the disorder

“…A biomarker is a measurable characteristic indicating normal or pathogenic biological processes or pharmacological responses to therapeutic drugs (Miglis et al, 2021). Biomarkers used for diagnosis of and fMRI), and genetic biomarker (GBA variants, SNCA, TMEM175) (Bramich et al, 2022;Gnarra et al, 2023;Zhang et al, 2023).…”

“…A biomarker is a measurable characteristic indicating normal or pathogenic biological processes or pharmacological responses to therapeutic drugs (Miglis et al., 2021 ). Biomarkers used for diagnosis of iRBD patients include neurophysiological (polysomnography, actigraphy, electroencephalogram), clinical (hyposmia, cognitive dysfunction, visual dysfunction, motor function, autonomic function) and biological biomarker (blood test, CSF, tissue biopsy), neuroimaging (positron emission tomography [PET], single‐photon emission computed tomography [SPECT], structural magnetic resonance imaging [MRI], DWI and fMRI), and genetic biomarker (GBA variants, SNCA, TMEM175) (Bramich et al., 2022 ; Gnarra et al., 2023 ; Zhang et al., 2023 ).…”

“…Actigraphy is a noninvasive method that can be used for assessment of sleep disorders (Bramich et al., 2022 ; Liguori et al., 2023 ). Measured biomarkers such as increased daytime nap frequency, sleep‐wake cycle dysregulation, and diurnal motor hypoactivity can be used for early diagnosing of patients with iRBD from healthy control, PD, restless leg syndrome (RLS) and sleep apnea (Liguori et al., 2023 ).…”

Isolated rapid eye movement sleep behaviour disorder (iRBD) in the Island Study Linking Ageing and Neurodegenerative Disease (ISLAND) Sleep Study: protocol and baseline characteristics

“…Screening questionnaires for iRBD can be useful but they tend to overestimate the prevalence, as some symptoms of iRBD may be present in other conditions, such as obstructive sleep apnea, periodic limb movement disorder, or nightmare disorder. The features of limb movements and frequent awakenings seen in these other conditions show how initial suspicion of iRBD can be missed with screening questionnaires alone (Bramich et al, 2022). Additionally, the low specificity and positive predictive value of iRBD screening questionnaires, along with the need to develop other methods for appropriate screening of iRBD, have recently been highlighted (Stefani et al, 2023).…”