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Delayed sleep disorder

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https://www.readbyqxmd.com/read/29773213/sleep-structure-and-awakening-threshold-in-delayed-sleep-wake-phase-disorder-patients-compared-to-healthy-sleepers
#1
Brandy Solheim, Knut Langsrud, Håvard Kallestad, Morten Engstrøm, Bjørn Bjorvatn, Trond Sand
STUDY OBJECTIVES: Difficult early morning awakening is a primary symptom of delayed sleep-wake phase disorder (DSWPD), however, it remains poorly investigated. Our main objective was to quantify the awakening threshold in DSWPD-patients and healthy controls as well as investigate a possible relationship with sleep stages. A secondary objective was to compare habitual sleep measured by polysomnography and actigraphy between patients and controls. METHODS: Twenty DSWPD patients and 16 controls had two polysomnographic recordings at a sleep laboratory...
June 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#2
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29743086/numerical-study-of-entrainment-of-the-human-circadian-system-and-recovery-by-light-treatment
#3
Soon Ho Kim, Segun Goh, Kyungreem Han, Jong Won Kim, MooYoung Choi
BACKGROUND: While the effects of light as a zeitgeber are well known, the way the effects are modulated by features of the sleep-wake system still remains to be studied in detail. METHODS: A mathematical model for disturbance and recovery of the human circadian system is presented. The model combines a circadian oscillator and a sleep-wake switch that includes the effects of orexin. By means of simulations, we characterize the period-locking zone of the model, where a stable 24-hour circadian rhythm exists, and the occurrence of circadian disruption due to both insufficient light and imbalance in orexin...
May 9, 2018: Theoretical Biology & Medical Modelling
https://www.readbyqxmd.com/read/29740055/cardiac-sympathetic-activity-differentiates-idiopathic-and-symptomatic-rapid-eye-movement-sleep-behaviour-disorder
#4
Lucie Barateau, Isabelle Jaussent, Régis Lopez, Elisa Evangelista, Sofiene Chenini, Meriem Benkiran, Denis Mariano-Goulart, Yves Dauvilliers
The pathophysiology of rapid eye movement sleep behavior disorder (RBD) associated with narcolepsy type 1 (NT1) is still poorly understood, potentially distinct from idiopathic RBD (iRBD), but may share affected common pathways. We investigated whether MIBG cardiac uptake differs between iRBD and NT1 comorbid with RBD. Thirty-four patients with NT1-RBD and 15 patients with iRBD underwent MIBG cardiac scintigraphy. MIBG uptake was measured by calculating the early and delayed heart to mediastinum (H/M) ratios...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29734098/investigation-of-possible-risk-factors-for-depression-in-alzheimer-s-disease-a-systematic-review-of-the-evidence
#5
REVIEW
Natassa Steck, Claudia Cooper, Vasiliki Orgeta
BACKGROUND: Depression is common in people with Alzheimer's disease (AD), and is associated with increased risk of institutionalization and mortality. Understanding risk factors for depression in AD is key to its development and treatment. METHODS: We searched the MEDLINE, EMBASE, PsycINFO, and CINAL databases for longitudinal prospective cohort studies that evaluated risk factors for depression in people with AD. Two authors independently selected articles for inclusion and assessed quality of studies using predetermined criteria...
April 10, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#6
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29718535/vigilant-attention-to-threat-sleep-patterns-and-anxiety-in-peripubertal-youth
#7
Emily J Ricketts, Rebecca B Price, Greg J Siegle, Jennifer S Silk, Erika E Forbes, Cecile D Ladouceur, Allison G Harvey, Neal D Ryan, Ronald E Dahl, Dana L McMakin
BACKGROUND: Vigilant attention to threat is commonly observed in anxiety, undergoes developmental changes in early adolescence, and has been proposed to interfere with sleep initiation and maintenance. We present one of the first studies to use objective measures to examine associations between vigilant attention to threat and difficulties initiating and maintaining sleep in an early adolescent anxious sample. We also explore the moderating role of development (age, puberty) and sex. METHODS: Participants were 66 peripubertal youth (ages 9-14) with a primary anxiety disorder and 24 healthy control subjects...
May 2, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29698000/benefits-and-challenges-of-using-service-dogs-for-veterans-with-posttraumatic-stress-disorder
#8
Bobbi Jo H Yarborough, Scott P Stumbo, Micah T Yarborough, Ashli Owen-Smith, Carla A Green
OBJECTIVE: Veterans with posttraumatic stress disorder (PTSD) are increasingly seeking service dogs to help them manage trauma-related symptoms, yet literature describing service dog use in this population is scant. The goal of this study was to document the benefits and challenges experienced by veterans with service dogs trained to assist with PTSD-related needs. METHOD: Participants were veterans (N = 41) with service dogs, and their caregivers (n = 8), recruited through community-based service dog training agencies...
April 26, 2018: Psychiatric Rehabilitation Journal
https://www.readbyqxmd.com/read/29680426/willis-ekbom-disease-restless-legs-syndrome-in-patients-with-opioid-withdrawal
#9
Ravi Gupta, Ramjan Ali, Rajat Ray
INTRODUCTION: Many patients with opioid use disorder report symptoms similar to restless legs syndrome (RLS) during withdrawal. However, whether these symptoms are true RLS, their predictors and effect of treatment with pregabalin are still unknown. METHOD: A total of 19 consecutive patients with opioid use disorder who were admitted for detoxification were included in this study after obtaining informed consent. Information regarding addiction was noted, and they were screened for RLS every morning and evening...
May 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29680419/a-randomised-controlled-trial-of-bright-light-therapy-and-morning-activity-for-adolescents-and-young-adults-with-delayed-sleep-wake-phase-disorder
#10
C Richardson, N Cain, K Bartel, G Micic, B Maddock, M Gradisar
A randomised controlled trial evaluated bright light therapy and morning activity for the treatment of Delayed Sleep-Wake Phase Disorder (DSWPD) in young people. 60 adolescents and young adults (range = 13-24 years, mean = 15.9 ± 2.2 y, 63% f) diagnosed with DSWPD were randomised to receive three weeks of post-awakening Green Bright Light Therapy (∼507 nm) and Sedentary Activity (sitting, watching TV), Green Bright Light Therapy and Morning Activity (standing, playing motion-sensing videogame), Red Light Therapy (∼643 nm) and Sedentary Activity or Red Light Therapy and Morning Activity...
May 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29665518/early-intervention-for-adolescents-at-risk-for-bipolar-disorder-a-pilot-randomized-trial-of-interpersonal-and-social-rhythm-therapy-ipsrt
#11
Tina R Goldstein, John Merranko, Megan Krantz, Matthew Garcia, Peter Franzen, Jessica Levenson, David Axelson, Boris Birmaher, Ellen Frank
OBJECTIVE: To conduct a pilot randomized trial of Interpersonal and Social Rhythm Therapy plus Data-Informed Referral (IPSRT + DIR) versus DIR-alone for adolescents at-risk for bipolar disorder (BP). METHOD: Eligible participants included youth (12-18) with a BP parent; youth with BP were excluded. Participants (n = 42) were randomized to receive IPSRT + DIR to treat any psychiatric disorders present at baseline, or DIR-alone. A blind evaluator assessed outcomes at baseline, 3- and 6-months...
April 7, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29665124/how-does-dementia-with-lewy-bodies-start-prodromal-cognitive-changes-in-rem-sleep-behavior-disorder
#12
Daphné Génier Marchand, Ronald B Postuma, Frédérique Escudier, Jessie De Roy, Amélie Pelletier, Jacques Montplaisir, Jean-François Gagnon
Objective We describe the progression of cognitive decline and identify the predictive values of cognitive tests in three groups of REM sleep behavior disorder (RBD) patients classified at their last follow-up as having Parkinson's disease (PD), dementia with Lewy bodies (DLB), or still-idiopathic. Methods Patients (n=109) underwent polysomnographic, neurological, and neuropsychological assessments. We used linear mixed-model analyses to compare the progression of cognitive test performance between the three groups over a three-year prodromal period, and performed linear regressions for a six-year prodromal period...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29664048/effect-of-rapid-eye-movement-sleep-behavior-disorder-on-obstructive-sleep-apnea-severity-and-cognition-of-parkinson-s-disease-patients
#13
Jun-Ying Huang, Jin-Ru Zhang, Yun Shen, Hui-Jun Zhang, Yu-Lan Cao, Cheng-Jie Mao, Ya-Ping Yang, Jing Chen, Chun-Feng Liu, Jie Li
Background: Rapid eye movement (REM) sleep behavior disorder (RBD) and obstructive sleep apnea (OSA) are the most common sleep disorders in Parkinson's disease (PD). The aim of this study was to identify whether RBD could alleviate OSA severity in PD patients and its effect on cognitive impairment. Methods: From February 2014 to May 2017, we recruited 174 PD patients from the Second Affiliated Hospital of Soochow University, all of whom underwent polysomnography (PSG)...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29610177/nalcn-dysfunction-as-a-cause-of-disordered-respiratory-rhythm-with-central-apnea
#14
Jamie Campbell, David R FitzPatrick, Tara Azam, Neil A Gibson, Laura Somerville, Shelagh K Joss, Don S Urquhart
The sodium leak channel nonselective protein (NALCN) is a regulator of the pacemaker neurons that are responsible for rhythmic behavior (including respiration), maintaining the resting membrane potential, and are required for action potential production. NALCN -null mice show early death associated with disrupted respiratory rhythms, characterized by frequent and profound apneas. We report 3 children (2 siblings) with compound heterozygous mutations in NALCN associated with developmental impairment, hypotonia, and central sleep-disordered breathing causing apneas...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29609703/diagnostic-and-treatment-challenges-of-sighted-non-24-hour-sleep-wake-disorder
#15
Roneil G Malkani, Sabra M Abbott, Kathryn J Reid, Phyllis C Zee
STUDY OBJECTIVES: To report the diagnostic and treatment challenges of sighted non-24-hour sleep-wake disorder (N24SWD). METHODS: We report a series of seven sighted patients with N24SWD clinically evaluated by history and sleep diaries, and when available wrist actigraphy and salivary melatonin levels, and treated with timed melatonin and bright light therapy. RESULTS: Most patients had a history of a delayed sleep-wake pattern prior to developing N24SWD...
March 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29607311/shiftwork-mediated-disruptions-of-circadian-rhythms-and-sleep-homeostasis-cause-serious-health-problems
#16
REVIEW
Suliman Khan, Pengfei Duan, Lunguang Yao, Hongwei Hou
Shiftwork became common during the last few decades with the growing demands of human life. Despite the social inactivity and irregularity in habits, working in continuous irregular shifts causes serious health issues including sleep disorders, psychiatric disorders, cancer, and metabolic disorders. These health problems arise due to the disruption in circadian clock system, which is associated with alterations in genetic expressions. Alteration in clock controlling genes further affects genes linked with disorders including major depression disorder, bipolar disorder, phase delay and phase advance sleep syndromes, breast cancer, and colon cancer...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29579119/high-levels-of-caregiver-burden-in-prader-willi-syndrome
#17
Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong
OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics of PWS can be difficult for caregivers to cope with and are likely to cause significant and long- term caregiver burden. The current study examined burden in 142 caregivers of children and adults with PWS living in the US using the Zarit Burden Interview (ZBI)...
2018: PloS One
https://www.readbyqxmd.com/read/29556724/de-novo-apparent-loss-of-function-mutations-in-prr12-in-three-patients-with-intellectual-disability-and-iris-abnormalities
#18
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c...
March 19, 2018: Human Genetics
https://www.readbyqxmd.com/read/29555485/cognitive-performance-in-adolescents-with-delayed-sleep-wake-phase-disorder-treatment-effects-and-a-comparison-with-good-sleepers
#19
C Richardson, G Micic, N Cain, K Bartel, B Maddock, M Gradisar
The present study aimed to investigate whether Australian adolescents with Delayed Sleep-Wake Phase Disorder have impaired cognitive performance and whether chronobiological treatment for Delayed Sleep-Wake Phase Disorder improves adolescents' sleep, daytime functioning and cognitive performance. Adolescents with Delayed Sleep-Wake Phase Disorder (mean = 15.68 ± 2.1 y, 62% f) reported significantly later sleep timing (d = 1.03-1.45), less total sleep time (d = 0.82) and greater daytime sleepiness (d = 2...
March 16, 2018: Journal of Adolescence
https://www.readbyqxmd.com/read/29543606/ce-original-research-recognizing-delirium-in-hospitalized-children-a-systematic-review-of-the-evidence-on-risk-factors-and-characteristics
#20
Cheryl Holly, Sallie Porter, Mercedes Echevarria, Margaret Dreker, Sevara Ruzehaji
The findings can facilitate earlier recognition and prevention of pediatric delirium. ABSTRACT: Purpose: The purpose of this study was to examine the evidence regarding the risk factors for and characteristics of acute pediatric delirium in hospitalized children. METHODS: The systematic review method within an epidemiological framework of person, place, and time was used. Fifty-two studies were selected for initial retrieval. Of these, after assessment for methodological quality, 21 studies involving 2,616 subjects were included in the review...
March 14, 2018: American Journal of Nursing
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