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https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#1
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818243/mental-health-problems-and-cancer-risk-factors-among-young-adults
#2
Greta M Massetti, Cheryll C Thomas, Jessica King, Kathleen Ragan, Natasha Buchanan Lunsford
INTRODUCTION: Chronic mental health problems often emerge in young adulthood, when adults begin to develop lifelong health behaviors and access preventive health services. The associations between mental health problems and modifiable cancer risk factors in young adulthood are not well understood. METHODS: In 2016, the authors analyzed 2014 Behavioral Risk Factor Surveillance System data on demographic characteristics, health service access and use, health status, and cancer risk factors (tobacco use, alcohol use, overweight or obesity, physical activity, and sleep) for 90,821 young adults aged 18-39 years with mental health problems (depressive disorder or frequent mental distress) compared to other young adults...
September 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28816508/stability-and-predictive-validity-of-the-parent-child-sleep-interactions-scale-a-longitudinal-study-among-preschoolers
#3
Chelsey S Barrios, Samantha Y Jay, Victoria C Smith, Candice A Alfano, Lea R Dougherty
Little research has examined the processes underlying children's persistent sleep problems and links with later psychopathology. The current study examined the stability of parent-child sleep interactions as assessed with the parent-reported Parent-Child Sleep Interactions Scale (PSIS) and examined whether sleep interactions in preschool-age children predict sleep problems and psychiatric symptoms later in childhood. Participants included 108 preschool-age children (50% female) and their parents. Parents completed the PSIS when children were 3-5 years (T1) and again when they were 6-9 years (T2)...
August 17, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28816003/prevalence-of-gastrointestinal-symptoms-in-angelman-syndrome
#4
Laura W Glassman, Olivia R Grocott, Portia A Kunz, Anna M Larson, Garret Zella, Kriston Ganguli, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the University of North Carolina Comprehensive Angelman Clinic...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815150/identifying-psychiatric-comorbidities-for-obstructive-sleep-apnea-in-the-biomedical-literature-and-electronic-health-record
#5
Jessica M Haddad, Elizabeth S Chen
Obstructive sleep apnea (OSA) is one of the most common diseases among Americans, affecting between 5 and 20% of the population. While there is existing evidence of numerous comorbid conditions, such as obesity, diabetes, and high blood pressure, the vast majority of this evidence has focused explicitly on cardiovascular morbidities and excluded any mental or behavioral disorders. The goal of this study was to examine psychiatric comorbidities of OSA in two types of sources: (1) biomedical literature in the MEDLINE/PubMed database (focusing on MeSH descriptors) and Semantic MEDLINE Database (SemMedDB; for semantic predications), and (2) electronic health record data in the MIMIC-III database...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#6
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#7
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28810998/delayed-diagnosis-of-acromegaly-in-the-context-of-post-traumatic-stress-disorder-due-to-symptoms-mimicking-known-psychotropic-medication-side-effects
#8
Ray-Bernard Portier, Afshin Afarin, Sara Pope
BACKGROUND: Acromegaly is caused by elevated secretion of human growth hormone, which is frequently because of intracranial tumors. This diagnosis is fairly uncommon with an incidence of 3 to 4 cases per million patients per year. We are presenting a case of acromegaly diagnosed in an active duty Chief Petty Officer. MATERIALS AND METHODS: A 38-year-old male Chief Petty Officer with no previous mental health diagnosis experienced post-traumatic stress disorder (PTSD)-like symptoms in early 2012 after deploying to Iraq and Afghanistan from 2010 to 2011...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28810072/dreamless-the-silent-epidemic-of-rem-sleep-loss
#9
Rubin Naiman
We are at least as dream deprived as we are sleep deprived. Many of the health concerns attributed to sleep loss result from a silent epidemic of REM sleep deprivation. REM/dream loss is an unrecognized public health hazard that silently wreaks havoc with our lives, contributing to illness, depression, and an erosion of consciousness. This paper compiles data about the causes and extent of REM/dream loss associated with commonly used medications, endemic substance use disorders, rampant sleep disorders, and behavioral and lifestyle factors...
August 15, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28809834/quantifying-infra-slow-dynamics-of-spectral-power-and-heart-rate-in-sleeping-mice
#10
Laura M J Fernandez, Sandro Lecci, Romain Cardis, Gil Vantomme, Elidie Béard, Anita Lüthi
Three vigilance states dominate mammalian life: wakefulness, non-rapid eye movement (non-REM) sleep, and REM sleep. As more neural correlates of behavior are identified in freely moving animals, this three-fold subdivision becomes too simplistic. During wakefulness, ensembles of global and local cortical activities, together with peripheral parameters such as pupillary diameter and sympathovagal balance, define various degrees of arousal. It remains unclear the extent to which sleep also forms a continuum of brain states-within which the degree of resilience to sensory stimuli and arousability, and perhaps other sleep functions, vary gradually-and how peripheral physiological states co-vary...
August 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28808850/non-rem-sleep-disordered-breathing-affects-performance-on-the-psychomotor-vigilance-task
#11
Takuro Kitamura, Soichiro Miyazaki, Hiroshi Kadotani, Takashi Kanemura, Harun Bin Sulaiman, Shoko Takeuchi, Takahisa Tabata, Hideaki Suzuki
PURPOSE: Although many studies have investigated the clinical importance of sleep apnea on rapid eye movement (REM) and non-REM (NREM) sleep, the relationship between behavioral performance and apneic events during different sleep phases remains unclear. In the present study, we sought to investigate the effect of sleep phase fragmentation due to sleep-disordered breathing (SDB) during REM and NREM on the vigilance and sustainability of attention based on psychomotor vigilance task (PVT) performance...
August 14, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28807776/sleep-behaviors-in-children-with-different-frequencies-of-parental-reported-sleep-bruxism
#12
Claudia Restrepo, Daniele Manfredini, Frank Lobbezoo
OBJECTIVE: Knowledge on the relationship between sleep bruxism (SB) and sleep behaviors in children is still fragmental, especially when socioeconomic factors are concerned. To assess sleep behaviors in children with different frequencies of proxy-reported SB. METHODS: Parents of 1475 Colombian children, aged 9.8±1.6years, belonging to 3 different social layers, filled out a questionnaire on their childreńs sleep (Childreńs Sleep Habits Questionnaire [CSHQ])...
August 11, 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28807495/the-colorful-spectrum-of-tourette-syndrome-and-its-medical-surgical-and-behavioral-therapies
#13
Jan Roth
Tourette syndrome (TS) is a common neuropsychiatric disorder, more common in males than females, with onset before age 18. TS is characterized by multiple motor tics and one or more vocal/phonic tics, persisting for more than a year. Tics are unvoluntary, abrupt, rapid, repetitive, but non-rhythmic movements or sounds (vocalizations). They are preceded by an inner urge. Tics can be temporarily suppressed, but this leads to a powerful re-emergence. The performance of tics results in immediate but transient relief...
August 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28805589/visual-dysfunction-in-parkinson-s-disease
#14
Richard A Armstrong
This chapter describes the visual problems likely to be encountered in Parkinson's disease (PD) and whether such signs are useful in differentiating the parkinsonian syndromes. Visual dysfunction in PD may involve visual acuity, contrast sensitivity, color discrimination, pupil reactivity, saccadic and pursuit eye movements, motion perception, visual fields, and visual processing speeds. In addition, disturbance of visuospatial orientation, facial recognition problems, rapid eye movement (REM) sleep behavior disorder, and chronic visual hallucinations may be present...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805580/tourette-syndrome-and-chronic-tic-disorders-the-clinical-spectrum-beyond-tics
#15
Davide Martino, Christos Ganos, Tamara M Pringsheim
The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805574/nonmotor-symptoms-in-vascular-and-other-secondary-parkinsonism
#16
Oleg S Levin, Achcha Sh Chimagomedova, Natalia A Skripkina, Elena A Lyashenko, Olga V Babkina
Vascular parkinsonism (VP) is a relatively frequent variant of secondary parkinsonism caused by ischemic or hemorrhagic lesions of basal ganglia, midbrain, or their links with frontal cortex. According to different investigations, various forms of cerebrovascular disease cause 1%-15% of parkinsonism cases. Nonmotor symptoms are frequently found in VP and may negatively influence on quality of life. However, nonmotor symptoms such as hallucinations, orthostatic hypotension, REM-sleep behavior disorder, and anosmia are rarely revealed in VP, which may be noted to another diagnosis or mixed pathology...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805564/deep-brain-stimulation-and-nonmotor-symptoms
#17
Elliot Hogg, Jeffrey Wertheimer, Sarah Graner, Michele Tagliati
Deep brain stimulation (DBS) is currently the treatment of choice for advanced Parkinson's disease (PD). Several brain targets, including the subthalamic nucleus and the globus pallidus internus, have been successfully employed, with excellent motor outcomes. Despite less established knowledge, DBS may be a powerful tool for managing a wide variety of nonmotor symptoms (NMS) in PD patients, either directly or indirectly due to motor benefit or reduction of dopaminergic drug load. After an assessment of global nonmotor outcomes of DBS, as measured by currently available clinical scales and questionnaires, this chapter will address DBS effects on four main NMS categories: neurobehavioral, including cognitive and neuropsychiatric symptoms, autonomic dysfunction, including orthostatic hypotension, constipation, and urinary dysfunction, sleep disturbances, including insomnia, REM sleep behavior disorder, and restless leg syndrome, to conclude with sensory symptoms, mainly focusing on pain...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803382/cortical-afferent-inhibition-abnormalities-reveal-cholinergic-dysfunction-in-parkinson-s-disease-a-reappraisal
#18
REVIEW
Raffaele Nardone, Francesco Brigo, Viviana Versace, Yvonne Höller, Frediano Tezzon, Leopold Saltuari, Eugen Trinka, Luca Sebastianelli
Parkinson's disease (PD) is a multisystem neurodegenerative disorder affecting, besides the dopaminergic function, multiple neurotransmission systems, including the cholinergic system. Central cholinergic circuits of human brain can be tested non-invasively by coupling peripheral nerve stimulation with transcranial magnetic stimulation (TMS) of motor cortex; this test is named short latency afferent inhibition (SAI). SAI abnormalities have been reported in PD patients with gait disturbances and many non-motor symptoms, such as visual hallucinations (VHs), REM sleep behavior disorder (RBD), dysphagia, and olfactory impairment...
August 12, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28802939/sleep-dysfunction-in-parkinson-s-disease
#19
Cristian Falup-Pecurariu, Ştefania Diaconu
The spectrum of sleep problems in Parkinson's disease (PD) is broad. These symptoms are recognized as being clinically relevant by the PD patients and may seriously affect their quality of life. Some studies reveal the occurrence of sleep disorders in more than half of the PD patients. The etiology is multifactorial and it mainly involves the degeneration of the sleep-regulating structures. Sleep disorders in PD can be classified into: disturbances of sleep and disturbances of wakefulness. Generic and specific scales were designed to help the screening and evaluation of sleep dysfunction...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802776/the-psychosocial-burden-of-psoriatic-arthritis
#20
REVIEW
M Elaine Husni, Joseph F Merola, Sara Davin
OBJECTIVE: To assess the psychosocial impact of psoriatic arthritis (PsA), describe how health-related quality of life (QoL) is affected in patients with PsA, discuss measures used to evaluate the psychosocial impact of PsA, and review studies examining the effect of therapy on QoL. METHODS: A targeted review on the impact of PsA on QoL and the role of tailored psychosocial management in reducing the psychosocial burden of the disease was performed. PubMed literature searches were conducted using the terms PsA, psychosocial burden, QoL, and mood/behavioral changes...
May 20, 2017: Seminars in Arthritis and Rheumatism
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