Dataset Information

Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?

ABSTRACT:

Abstract

Sleep-related rhythmic movement disorder (RMD) is common in very young children but rarely persists beyond childhood. Despite its high frequency, the underlying pathophysiology remains unclear. Familial occurrence is rare. Here we present monozygotic female triplets, all of them being affected by body rolling in terms of RMD. Furthermore, they all present with an additional genetic disease, cystic fibrosis, with the same documented mutation of the cystic fibrosis transmembrane conductance regulator gene (F508del-CFTR). Because all three monozygotic siblings are concordant for RMD, genetic factors may contribute to the time course of the disorder.

SUBMITTER: Hayward-Koennecke HK

PROVIDER: S-EPMC6329534 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?

Hayward-Koennecke Helen K HK Werth Esther E Valko Philipp O PO Baumann Christian R CR Poryazova Rositsa R

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 20190115 1

<h4>Abstract</h4>Sleep-related rhythmic movement disorder (RMD) is common in very young children but rarely persists beyond childhood. Despite its high frequency, the underlying pathophysiology remains unclear. Familial occurrence is rare. Here we present monozygotic female triplets, all of them being affected by body rolling in terms of RMD. Furthermore, they all present with an additional genetic disease, cystic fibrosis, with the same documented mutation of the cystic fibrosis transmembrane c ...[more]

PMID: 30621834

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Project description:Background: Unlike other episodic sleep disorders in childhood, there are no agreed severity indices for rhythmic movement disorder. While movements can be characterized in detail by polysomnography, in our experience most children inhibit rhythmic movement during polysomnography. Actigraphy and home video allow assessment in the child's own environment, but both have limitations. Standard actigraphy analysis algorithms fail to differentiate rhythmic movements from other movements. Manual annotation of 2D video is time consuming. We aimed to develop a sensitive, reliable method to detect and quantify rhythmic movements using marker free and automatic 3D video analysis. Method: Patients with rhythmic movement disorder (n = 6, 4 male) between age 5 and 14 years (M: 9.0 years, SD: 4.2 years) spent three nights in the sleep laboratory as part of a feasibility study (https://clinicaltrials.gov/ct2/show/NCT03528096). 2D and 3D video data recorded during the adaptation and baseline nights were analyzed. One ceiling-mounted camera captured 3D depth images, while another recorded 2D video. We developed algorithms to analyze the characteristics of rhythmic movements and built a classifier to distinguish between rhythmic and non-rhythmic movements based on 3D video data alone. Data from 3D automated analysis were compared to manual 2D video annotations to assess algorithm performance. Novel indices were developed, specifically the rhythmic movement index, frequency index, and duration index, to better characterize severity of rhythmic movement disorder in children. Result: Automatic 3D video analysis demonstrated high levels of agreement with the manual approach indicated by a Cohen's kappa >0.9 and F1-score >0.9. We also demonstrated how rhythmic movement assessment can be improved using newly introduced indices illustrated with plots for ease of visualization. Conclusion: 3D video technology is widely available and can be readily integrated into sleep laboratory settings. Our automatic 3D video analysis algorithm yields reliable quantitative information about rhythmic movements, reducing the burden of manual scoring. Furthermore, we propose novel rhythmic movement disorder severity indices that offer a means to standardize measurement of this disorder in both clinical and research practice. The significance of the results is limited due to the nature of a feasibility study and its small number of samples. A larger follow up study is needed to confirm presented results.

Project description:ObjectiveTo investigate structural and functional connectivity changes in brain olfactory-related structures in a longitudinal prospective cohort of isolated REM sleep behavior disorder (iRBD) and their clinical correlations, longitudinal evolution, and predictive values for phenoconversion to overt synucleinopathies, especially Lewy body diseases.MethodsThe cohort included polysomnography-confirmed iRBD patients and controls. Participants underwent baseline assessments including olfactory tests, neuropsychological evaluations, the Movement Disorders Society-Unified Parkinson's Disease Rating Scale, 3T brain MRI, and 18 F-FP-CIT PET scans. Voxel-based morphometry (VBM) was performed to identify regions of atrophy in iRBD, and volumes of relevant olfactory-related regions of interest (ROI) were estimated. Subgroups of patients underwent repeated volumetric MRI and resting-state functional MRI (fMRI) scans after four years.ResultsA total of 51 iRBD patients were included, with 20 of them converting to synucleinopathy (mean time to conversion 3.08 years). Baseline VBM analysis revealed atrophy in the right olfactory cortex and gyrus rectus in iRBD. Subsequent ROI comparisons with controls showed atrophy in the amygdala. These olfactory-related atrophies tended to be associated with worse depression, anxiety, and urinary problems in iRBD. Amygdala 18 F-FP-CIT uptake tended to be reduced in iRBD patients with hyposmia (nonsignificant after multiple comparison correction) and correlated with urinary problems. Resting-state fMRI of 23 patients and 32 controls revealed multiple clusters with aberrant olfactory-related functional connectivity. Hypoconnectivity between the putamen and olfactory cortex was associated with mild parkinsonian signs in iRBD. Longitudinal analysis of volumetric volumetric MRI in 22 iRBD patients demonstrated four-year progression of olfactory-related atrophy. Cox regression analysis revealed that this atrophy significantly predicted phenoconversion.InterpretationProgressive atrophy of central olfactory structures may be a potential indicator of Lewy body disease progression in iRBD.

Dataset Information

Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?

Abstract

Publications

Sleep-Related Rhythmic Movement Disorder in Triplets: Evidence for Genetic Predisposition?

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