Study Objectives: mutations cause early-onset hyperkinetic movement disorders comprising diurnal and nocturnal paroxysmal dyskinesia, and patient-reported sleep fragmentation. We aimed to characterize all movements occurring during sleep and in the transition from sleep to awakening, to ascertain if there is a primary sleep disorder, or if the sleep disturbance is rather a consequence of the dyskinesia.
Methods: Using video polysomnography, we evaluated the nocturnal motor events and abnormal movements in 7 patients with -related dyskinesia and compared their sleep measures with those of 14 age- and sex-matched healthy controls.
Results: We observed an increased occurrence of abnormal movements during wake periods compared to sleep in patients with -related dyskinesia. While asleep, abnormal movements occurred more frequently during stage N2 and REM sleep, in contrast with stage N3 sleep. Abnormal movements were also more frequent during morning awakenings compared to wake periods before falling asleep. The pattern of the nocturnal abnormal movements mirrored those observed during waking hours. Compared to controls, patients with -related dyskinesia had lower sleep efficiencies due to prolonged awakenings secondary to the abnormal movements, but no other differences in sleep measures. Notably, sleep onset latency was short and devoid of violent abnormal movements.
Conclusions: In this series of patients with -related dyskinesia, nocturnal paroxysmal dyskinesia were not associated with drowsiness or delayed sleep onset, but emerged during nighttime awakenings with subsequent delayed sleep, whereas sleep architecture was normal.
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http://dx.doi.org/10.5664/jcsm.7886 | DOI Listing |
Crit Care Explor
January 2025
All authors: Department of Pharmacy, Brigham and Women's Hospital, Boston, MA.
Importance: Recent studies have found an association between COVID-19 infection and deeper sedation in mechanically ventilated patients, raising concerns about the impact of the COVID-19 pandemic on pain, agitation, and delirium (PAD) management practices overall.
Objectives: This study aimed to assess differences in PAD management in patients without COVID-19 infection in pre- and peri-COVID-19 pandemic timeframes.
Design, Setting, And Participants: This was a single-center, retrospective, pre-/post-cohort analysis of mechanically ventilated adult patients without COVID-19 infection admitted to an ICU in Boston, MA.
J Neurol
January 2025
Sleep Unit, Neurology Service, Hospital Clínic Barcelona, IDIBAPS, CIBERNED, Universitat de Barcelona, Villarroel 170, 08036, Barcelona, Spain.
Background: The diagnosis of isolated REM sleep behavior disorder (IRBD) requires video polysomnography (V-PSG) showing increased muscle activity and abnormal behaviors in REM sleep.
Objective: To describe in IRBD the behavioral manifestations occurring during REM sleep in the diagnostic V-PSG.
Methods: This is a systematic audiovisual V-PSG analysis of consecutive IRBD patients.
J Neurol
January 2025
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers.
View Article and Find Full Text PDFJ Neurol
January 2025
LUMC Department of Neurology, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Background And Objectives: The total functioning capacity (TFC) assessment has been integral to Huntington's disease (HD) research and clinical trials, measuring disease stage and progression. This study investigates the natural progression of function in HD, focusing on changes in TFC scores related to age and CAG-repeat length, and evaluates TFC's strengths and weaknesses in longitudinal studies.
Methods: Using Enroll-HD platform's clinical dataset version 5, including Registry-3, we analysed data from 21,079 participants, with 16,083 having an expanded CAG repeat.
Case Rep Dent
January 2025
Faculty of Dental Sciences, Beirut Arab University, Beirut, Lebanon.
Mucopolysaccharidosis (MPS) Type III (MPS III) or Sanfilippo syndrome is a rare autosomal recessive inherited metabolic disorder. This disorder is responsible for lysosomal storage disorder at the cellular aspect. Due to lysosomal enzyme perturbance leading to the alteration of macromolecule metabolisms, this cellular perturbance causes multiple severe systemic and mental outcomes.
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