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Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS)
Abstracts/Sleep Medicine 16 (2015) S2–S199 4
Danish Center for Sleep Medicine, Department of Clinical Neurophysiology, Glostrup Hospital, Denmark
Introduction: Prepulse inhibition (PPI) is a measure of sensorimotor gating. PPI has never been studied in patients with multiple system atrophy (MSA), although sensorimotor deficits are frequently associated with synucleinopathies. We investigated PPI in MSA, Parkinson’s disease (PD), idiopathic rapid eye movement sleep behavior disorder (iRBD) and healthy controls. Materials and methods: Ten patients with MSA, 12 patients with iRBD, 40 patients with PD, and 20 healthy controls completed the study. A passive acoustic prepulse inhibition paradigm was applied with prepulses 5 and 15 dB above background noise at 30-, 60-, 120and 300-ms intervals. Results: Non-parametric analyses showed that MSA patients had significantly lower prepulse inhibition, as measured with maxamplitude, than PD patients and iRBD patients on the 60 ms–85 dB and 120 ms–85 dB inter stimulus intervals. The same relation was found when using area under the curve. No differences were found between groups for the 30 ms–85 dB and 300 ms–85 dB. Furthermore, blink reflex characteristics such as habituation did not differ between patients and controls. Conclusion: We showed that PPI is markedly reduced in MSA, which may be due to brainstem dysfunction, as well as the degeneration of other structures related to the PPI modulating pathways in MSA. PPI may be a non-invasive neurophysiological measure that can aid in the differential diagnosis between PD and MSA. Acknowledgements: This study was funded by the Lundbeck Foundation, the National Foundation for Parkinson’s Disease, and the Toyota Foundation. http://dx.doi.org/10.1016/j.sleep.2015.02.1425
Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS) M. Chan 1, N. Beyzaei 1, S. Stockler 2, O. Ipsiroglu 1 1 Sleep/Wake Behaviours Clinic & Research Lab, BCCH, UBC (Vancouver), Canada 2 Division of Biochemical Diseases, BCCH, UBC (Vancouver), Canada
Introduction: Sleep problems are described to start at an early age in children with DS. We hypothesize that patients with DS may experience WED-associated symptoms, such as insomnia and restless sleep, in addition to sleep disordered breathing, a known contributor of daytime sleepiness and hyperactive-like behaviours. Materials and methods: Sixteen patients (children, youth, and adults) with DS were assessed at the Sleep/Wake Behaviour Clinic with qualitative methodology, utilizing narrative schema and therapeutic emplotment. Familial WED was diagnosed clinically with: (a) an extended clinical history, which included a sleep/wake behavior assessment of the parents, and (b) a modified version of the lab-based ‘Suggested Immobilization Test’, called the ‘Suggested Clinical Immobilization Test’ (SCIT). During the SCIT, implemented since 2011, patients and their parents were asked to sit barefoot in a relaxed position, remain motionless, and describe sensorimotor symptoms. The formal SCIT was conducted when patients could participate actively; otherwise, the physician’s observations and parents’ descriptions were summarized as an informal SCIT. Data were collected based on (a) patients’ descriptions, (b) clinician’s observations of sitting position, and (c) of toe, feet, and leg movements. Clinical
S119
presentations and symptoms were (a) captured in reports using the descriptions as the foundation of the clinical diagnoses, (b) quality controlled by parents and therapists, who worked with the patient, and (c) recorded retrospectively in a clinical phenotyping database. Results: (A) 100% of patients had restless sleep; 88% seemed to experience non-restorative sleep; 81% experienced daytime fatigue, sleepiness, and presented with challenging/disruptive daytime behaviours. (B) Familial sleep history revealed that 81% of parents presented with WED-associated symptoms. (C) One hundred percent of the patients presented with WED-associated symptoms: 75% experienced insomnia (50% falling asleep and 75% sleep maintenance challenges), 19% also experienced secondary behavioural insomnia, and 56% had suspected or confirmed periodic limb movements. (D) Since the introduction of the SCIT, all patients received a professional/parent observation/description based informal SCIT, with 42% demonstrating a positive result; none of the patients with DS could be assessed with a formal SCIT. However, the professionals’ observations and descriptions cued additional parental descriptions (e.g. ‘sits in yogi positions’, ‘loves to dance on her tiptoes’). (E) Ninety-four percent presented with sleep disordered breathing: mouth breathing 75%, snoring 63%, witnessed apnea/hypopnea (either currently or historically) 44%, and an atypical head position/ reclined head during sleep 31%. Conclusion: We investigated clinical presentations of patients with DS and sleep problems. Our current understanding is that, in addition to sleep disordered breathing, WED plays an important role; however, due to non-restorative sleep and chronic sleep deprivation, the typical falling asleep symptoms may not be evident. Further structured investigations are necessary. Acknowledgements: TIDE-BC (Treatable Intellectual Disability Endeavour – British Columbia), Vancouver, Canada; Down Syndrome Research Foundation (DSRF), Vancouver, Canada. http://dx.doi.org/10.1016/j.sleep.2015.02.1426
Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice N. Beyzaei 1, A. Wagner 2, M. Berger 1, R. Milner 3, S. Stockler 4, O. Ipsiroglu 1 1 Sleep/Wake Behaviours Clinic and Research Lab, BCCH, UBC (Vancouver), Canada 2 Sleep/Wake Behaviours Clinic and Research Lab, BCCH, UBC (Vancouver), Austria 3 BC Children’s Hospital, Vancouver, Canada 4 Division of Biochemical Diseases, BC Children’s Hospital, Department of Paediatrics, University of British Columbia, Vancouver, Canada
Introduction: In children/youth/adults with neurodevelopmental conditions we rely on supportive criteria, such as family history, to diagnose WED. We hypothesize that a structured office-based test will improve diagnostic investigations by incorporating subjective symptoms with (objective) behavioural observations. Materials and methods: Twenty-seven mothers, with history of WED and iron deficiency, were assessed together with their children who had been previously diagnosed with various neurodevelopmental disabilities and also suffered from chronic insomnia. Maternal WED was diagnosed clinically by: (a) clinical history; (b) descriptions of experienced symptoms, and (c) an office-based suggested clinical immobilization test (SCIT), a modified version of the lab-based suggested immobilization test. The SCIT was divided into two components: (a) Formal SCIT: A structured test where clients got up, shook out, sat barefoot in a relaxed position, and remained motionless while they
Danish Center for Sleep Medicine, Department of Clinical Neurophysiology, Glostrup Hospital, Denmark
Introduction: Prepulse inhibition (PPI) is a measure of sensorimotor gating. PPI has never been studied in patients with multiple system atrophy (MSA), although sensorimotor deficits are frequently associated with synucleinopathies. We investigated PPI in MSA, Parkinson’s disease (PD), idiopathic rapid eye movement sleep behavior disorder (iRBD) and healthy controls. Materials and methods: Ten patients with MSA, 12 patients with iRBD, 40 patients with PD, and 20 healthy controls completed the study. A passive acoustic prepulse inhibition paradigm was applied with prepulses 5 and 15 dB above background noise at 30-, 60-, 120and 300-ms intervals. Results: Non-parametric analyses showed that MSA patients had significantly lower prepulse inhibition, as measured with maxamplitude, than PD patients and iRBD patients on the 60 ms–85 dB and 120 ms–85 dB inter stimulus intervals. The same relation was found when using area under the curve. No differences were found between groups for the 30 ms–85 dB and 300 ms–85 dB. Furthermore, blink reflex characteristics such as habituation did not differ between patients and controls. Conclusion: We showed that PPI is markedly reduced in MSA, which may be due to brainstem dysfunction, as well as the degeneration of other structures related to the PPI modulating pathways in MSA. PPI may be a non-invasive neurophysiological measure that can aid in the differential diagnosis between PD and MSA. Acknowledgements: This study was funded by the Lundbeck Foundation, the National Foundation for Parkinson’s Disease, and the Toyota Foundation. http://dx.doi.org/10.1016/j.sleep.2015.02.1425
Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS) M. Chan 1, N. Beyzaei 1, S. Stockler 2, O. Ipsiroglu 1 1 Sleep/Wake Behaviours Clinic & Research Lab, BCCH, UBC (Vancouver), Canada 2 Division of Biochemical Diseases, BCCH, UBC (Vancouver), Canada
Introduction: Sleep problems are described to start at an early age in children with DS. We hypothesize that patients with DS may experience WED-associated symptoms, such as insomnia and restless sleep, in addition to sleep disordered breathing, a known contributor of daytime sleepiness and hyperactive-like behaviours. Materials and methods: Sixteen patients (children, youth, and adults) with DS were assessed at the Sleep/Wake Behaviour Clinic with qualitative methodology, utilizing narrative schema and therapeutic emplotment. Familial WED was diagnosed clinically with: (a) an extended clinical history, which included a sleep/wake behavior assessment of the parents, and (b) a modified version of the lab-based ‘Suggested Immobilization Test’, called the ‘Suggested Clinical Immobilization Test’ (SCIT). During the SCIT, implemented since 2011, patients and their parents were asked to sit barefoot in a relaxed position, remain motionless, and describe sensorimotor symptoms. The formal SCIT was conducted when patients could participate actively; otherwise, the physician’s observations and parents’ descriptions were summarized as an informal SCIT. Data were collected based on (a) patients’ descriptions, (b) clinician’s observations of sitting position, and (c) of toe, feet, and leg movements. Clinical
S119
presentations and symptoms were (a) captured in reports using the descriptions as the foundation of the clinical diagnoses, (b) quality controlled by parents and therapists, who worked with the patient, and (c) recorded retrospectively in a clinical phenotyping database. Results: (A) 100% of patients had restless sleep; 88% seemed to experience non-restorative sleep; 81% experienced daytime fatigue, sleepiness, and presented with challenging/disruptive daytime behaviours. (B) Familial sleep history revealed that 81% of parents presented with WED-associated symptoms. (C) One hundred percent of the patients presented with WED-associated symptoms: 75% experienced insomnia (50% falling asleep and 75% sleep maintenance challenges), 19% also experienced secondary behavioural insomnia, and 56% had suspected or confirmed periodic limb movements. (D) Since the introduction of the SCIT, all patients received a professional/parent observation/description based informal SCIT, with 42% demonstrating a positive result; none of the patients with DS could be assessed with a formal SCIT. However, the professionals’ observations and descriptions cued additional parental descriptions (e.g. ‘sits in yogi positions’, ‘loves to dance on her tiptoes’). (E) Ninety-four percent presented with sleep disordered breathing: mouth breathing 75%, snoring 63%, witnessed apnea/hypopnea (either currently or historically) 44%, and an atypical head position/ reclined head during sleep 31%. Conclusion: We investigated clinical presentations of patients with DS and sleep problems. Our current understanding is that, in addition to sleep disordered breathing, WED plays an important role; however, due to non-restorative sleep and chronic sleep deprivation, the typical falling asleep symptoms may not be evident. Further structured investigations are necessary. Acknowledgements: TIDE-BC (Treatable Intellectual Disability Endeavour – British Columbia), Vancouver, Canada; Down Syndrome Research Foundation (DSRF), Vancouver, Canada. http://dx.doi.org/10.1016/j.sleep.2015.02.1426
Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice N. Beyzaei 1, A. Wagner 2, M. Berger 1, R. Milner 3, S. Stockler 4, O. Ipsiroglu 1 1 Sleep/Wake Behaviours Clinic and Research Lab, BCCH, UBC (Vancouver), Canada 2 Sleep/Wake Behaviours Clinic and Research Lab, BCCH, UBC (Vancouver), Austria 3 BC Children’s Hospital, Vancouver, Canada 4 Division of Biochemical Diseases, BC Children’s Hospital, Department of Paediatrics, University of British Columbia, Vancouver, Canada
Introduction: In children/youth/adults with neurodevelopmental conditions we rely on supportive criteria, such as family history, to diagnose WED. We hypothesize that a structured office-based test will improve diagnostic investigations by incorporating subjective symptoms with (objective) behavioural observations. Materials and methods: Twenty-seven mothers, with history of WED and iron deficiency, were assessed together with their children who had been previously diagnosed with various neurodevelopmental disabilities and also suffered from chronic insomnia. Maternal WED was diagnosed clinically by: (a) clinical history; (b) descriptions of experienced symptoms, and (c) an office-based suggested clinical immobilization test (SCIT), a modified version of the lab-based suggested immobilization test. The SCIT was divided into two components: (a) Formal SCIT: A structured test where clients got up, shook out, sat barefoot in a relaxed position, and remained motionless while they