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https://www.readbyqxmd.com/read/28544326/haploinsufficiency-of-nr4a2-is-associated-with-a-neurodevelopmental-phenotype-with-prominent-language-impairment
#1
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, Arif B Ekici, André Reis, Christiane Zweier
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28542383/performance-in-eyeblink-conditioning-is-age-and-sex-dependent
#2
Karolina Löwgren, Rasmus Bååth, Anders Rasmussen, Henk-Jan Boele, Sebastiaan K E Koekkoek, Chris I De Zeeuw, Germund Hesslow
A growing body of evidence suggests that the cerebellum is involved in both cognition and language. Abnormal cerebellar development may contribute to neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism, fetal alcohol syndrome, dyslexia, and specific language impairment. Performance in eyeblink conditioning, which depends on the cerebellum, can potentially be used to clarify the neural mechanisms underlying the cerebellar dysfunction in disorders like these. However, we must first understand how the performance develops in children who do not have a disorder...
2017: PloS One
https://www.readbyqxmd.com/read/28541236/attention-deficit-hyperactivity-disorder-adhd-symptoms-and-cognitive-skills-of-preschool-children
#3
L Thomaidis, A Choleva, M Janikian, G Bertou, A Tsitsika, G Giannakopoulos, D C Anagnostopoulos
Attention deficit/hyperactivity disorder (ADHD) constitutes a neurobehavioral disorder which may potentially adversely affect children's wellbeing and academic achievement. The onset of symptoms is present prior to 12 years of age, and often the symptoms are evident in the preschool years. In fact, it has been suggested that screening for ADHD symptoms may be initiated as early as four years of age. Preschool children with ADHD have been shown to present with poor pre-academic skills and might be at increased risk for numerous school-related problems, including functional impairment during elementary school years and persistent poor academic performance thereafter...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28540347/interdisciplinary-management-of-head-and-neck-vascular-anomalies-clinical-presentation-diagnostic-findings-and-minimalinvasive-therapies
#4
REVIEW
Maliha Sadick, Walter A Wohlgemuth, Roland Huelse, Bettina Lange, Thomas Henzler, Stefan O Schoenberg, Haneen Sadick
OBJECTIVES: Vascular anomalies are included in the 30 000 rare diseases worldwide affecting less than 5/10 000 people. Depending on their morphology and biological properties, they can cause varied disorders with organ involvement. Almost 60% of vascular anomalies have a predilection for the head and neck region in children. Clinical and scientific effort to establish interdisciplinary management concepts for vascular anomalies is increasing worldwide. METHODS: Especially in the head and neck region, clinical impairment and organ dysfunction is associated with cosmetic issues that may represent a physical and psychological issue for the patient...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28538828/families-perception-of-children-adolescents-with-language-impairment-through-the-international-classification-of-functioning-disability-and-health-icf-cy
#5
Daniele Theodoro Ostroschi, Maria de Lurdes Zanolli, Regina Yu Shon Chun
Purpose: To investigate the perception of family members regarding linguistic conditions and social participation of children and adolescents with speech and language impairments using the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY). Methods: Quali-quantitative approach research, in which a survey of medical records of 24 children/adolescents undergoing speech-language therapy and interviews with their family members was conducted...
May 22, 2017: CoDAS
https://www.readbyqxmd.com/read/28533141/common-and-distinctive-patterns-of-cognitive-dysfunction-in-children-with-benign-epilepsy-syndromes
#6
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
BACKGROUND: Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes are the most common forms of benign epilepsy syndromes. Although cognitive dysfunctions occur in children with both childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes, the similarity between their patterns of underlying cognitive impairments is not well understood. To describe these patterns, we examined multiple cognitive functions in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28532703/reading-difficulties-in-primary-progressive-aphasia-in-a-regular-language-speaking-cohort-of-patients
#7
Jordi A Matías-Guiu, Fernando Cuetos, María Nieves Cabrera Martín, María Valles-Salgado, Teresa Moreno-Ramos, José Luis Carreras, Jorge Matías-Guiu
Reading impairment is an important feature in Primary Progressive Aphasia (PPA). The Spanish orthography entails completely regular spelling to sound correspondences, so reading disorders may be different to English. In the current study, reading, phonological and semantic abilities of 35 patients with the three variants of PPA, and 13 healthy volunteers were assessed. Brain metabolism was concomitantly obtained from each participant using (18)F-fluorodeoxyglucose positron emission tomography imaging. Two main patterns of impairment were identified: difficulties in nonwords reading with preservation of exception words in agrammatic and logopenic aphasia, and the inverse pattern in semantic dementia...
May 19, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28531767/the-standard-joint-unit
#8
Cristina Casajuana Kögel, María Mercedes Balcells-Olivero, Hugo López-Pelayo, Laia Miquel, Lídia Teixidó, Joan Colom, David John Nutt, Jürgen Rehm, Antoni Gual
OBJECTIVE: Reliable data on cannabis quantities is required to improve assessment of cannabis consumption for epidemiological analysis and clinical assessment, consequently a Standard Joint Unit (SJU) based on quantity of 9-Tetrahydrocannabinol (9-THC) has been established. METHODOLOGY: Naturalistic study of a convenience sample recruited from February 2015-June 2016 in universities, leisure spaces, mental health services and cannabis clubs in Barcelona. Adults, reporting cannabis use in the last 60 days, without cognitive impairment or language barriers, answered a questionnaire on cannabis use and were asked to donate a joint to further determine their 9-THC and Cannabidiol (CBD) content...
May 16, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28527315/longitudinal-decline-in-speech-production-in-parkinson-s-disease-spectrum-disorders
#9
Sharon Ash, Charles Jester, Collin York, Olga L Kofman, Rachel Langey, Amy Halpin, Kim Firn, Sophia Dominguez Perez, Lama Chahine, Meredith Spindler, Nabila Dahodwala, David J Irwin, Corey McMillan, Daniel Weintraub, Murray Grossman
We examined narrative speech production longitudinally in non-demented (n=15) and mildly demented (n=8) patients with Parkinson's disease spectrum disorder (PDSD), and we related increasing impairment to structural brain changes in specific language and motor regions. Patients provided semi-structured speech samples, describing a standardized picture at two time points (mean±SD interval=38±24months). The recorded speech samples were analyzed for fluency, grammar, and informativeness. PDSD patients with dementia exhibited significant decline in their speech, unrelated to changes in overall cognitive or motor functioning...
May 17, 2017: Brain and Language
https://www.readbyqxmd.com/read/28527230/imaging-and-neuropsychological-correlates-of-white-matter-lesions-in-different-subtypes-of-mild-cognitive-impairment-a-systematic-review
#10
Charlene L M Lam, Jenny Yiend, Tatia M C Lee
BACKGROUND: White matter lesions (WML) are prevalent in older adults. The association between WML and cognition in different subtypes of Mild Cognitive Impairment (MCI) is inconsistent in the literature. OBJECTVES: We aim to provide a systematic review on the impact of WML in different subtypes of MCI, and discuss the recent findings on white matter plasticity. METHODS: We reviewed peer-reviewed articles from January 2011 to August 2016 and identified 12 studies investigating the association between WML and subtypes of MCI with both neuroimaging and cognitive measures...
May 13, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28527216/effects-of-healthy-aging-and-mild-cognitive-impairment-on-a-real-life-decision-making-task
#11
Marie-Theres Pertl, Thomas Benke, Laura Zamarian, Margarete Delazer
In this study, we investigated the effects of age and of mild cognitive impairment (MCI) on decision making under risk by adopting a task representing real-life health-related situations and involving complex numerical information. Moreover, we assessed the relationship of real-life decision making to other cognitive functions such as number processing, executive functions, language, memory, and attention. For this reason, we compared the performance of 19 healthy, relatively younger adults with that of 18 healthy older adults as well as the performance of the 18 healthy older adults with that of 17 patients with MCI...
May 17, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28526295/large-scale-exploratory-genetic-analysis-of-cognitive-impairment-in-parkinson-s-disease
#12
Ignacio F Mata, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Vivianna M Van Deerlin, Beate Ritz, Rebecca Rausch, Stewart A Factor, Cathy Wood-Siverio, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Alberto J Espay, Fredy J Revilla, Johnna Devoto, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Cognitive impairment is a common and disabling problem in Parkinson's disease (PD). Identification of genetic variants that influence the presence or severity of cognitive deficits in PD might provide a clearer understanding of the pathophysiology underlying this important nonmotor feature. We genotyped 1105 PD patients from the PD Cognitive Genetics Consortium for 249,336 variants using the NeuroX array. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised [HVLT-R]), working memory/executive function (Letter-Number Sequencing and Trail Making Test [TMT] A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation [JoLO]), and global cognitive function (Montreal Cognitive Assessment)...
April 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28526009/measuring-health-literacy-among-low-literate-people-an-exploratory-feasibility-study-with-the-hls-eu-questionnaire
#13
Hannelore Storms, Neree Claes, Bert Aertgeerts, Stephan Van den Broucke
BACKGROUND: Health literacy (HL) is defined as necessary competencies to make well-informed decisions. As patients' decision making is a key element of patient-centered health care, insight in patients' HL might help healthcare professionals to organize their care accordingly. This is particularly true for people in a vulnerable situation, potentially with limited HL, who are, for instance, at greater risk of having limited access to care [1, 2]. As HL correlates with education, instruments should allow inclusion of low literate people...
May 19, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28525836/arterial-spin-labelling-shows-functional-depression-of-non-lesion-tissue-in-chronic-wernicke-s-aphasia
#14
Holly Robson, Karsten Specht, Helen Beaumont, Laura M Parkes, Karen Sage, Matthew A Lambon Ralph, Roland Zahn
Behavioural impairment post-stroke is a consequence of structural damage and altered functional network dynamics. Hypoperfusion of intact neural tissue is frequently observed in acute stroke, indicating reduced functional capacity of regions outside the lesion. However, cerebral blood flow (CBF) is rarely investigated in chronic stroke. This study investigated CBF in individuals with chronic Wernicke's aphasia (WA) and examined the relationship between lesion, CBF and neuropsychological impairment. Arterial spin labelling CBF imaging and structural MRIs were collected in 12 individuals with chronic WA and 13 age-matched control participants...
November 10, 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28523224/the-treatment-methods-for-post-stroke-visual-impairment-a%C3%A2-systematic-review
#15
REVIEW
Kerry Louise Hanna, Lauren Rachel Hepworth, Fiona J Rowe
AIM: To provide a systematic overview of interventions for stroke related visual impairments. METHOD: A systematic review of the literature was conducted including randomized controlled trials, controlled trials, cohort studies, observational studies, systematic reviews, and retrospective medical note reviews. All languages were included and translation obtained. This review covers adult participants (aged 18 years or over) diagnosed with a visual impairment as a direct cause of a stroke...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28522283/-standardised-pain-assessment-in-cognitively-impaired-nursing-home-residents-comparing-the-use-of-assessment-tools-in-dementia-care-units-and-in-integrated-care-units
#16
Rebecca Palm, Erika Sirsch, Bernhard Holle, Sabine Bartholomeyczik
BACKGROUND: A large number of nursing home residents with cognitive impairments (CI) suffer from chronic pain, which is also discussed as a reason for challenging behavior. To assess pain in people with severe CI, the use of an observational pain instrument is recommended; for people without or with mild CI the gold standard is a self-rating instrument. It is unknown whether in German nursing homes pain assessment in residents with severe CI is actually conducted using observational instruments and which instruments are used...
May 15, 2017: Zeitschrift Für Evidenz, Fortbildung und Qualität Im Gesundheitswesen
https://www.readbyqxmd.com/read/28522184/is-fluorescence-guided-surgery-with-5-ala-in-eloquent-areas-for-malignant-gliomas-a-reasonable-and-useful-technique
#17
T Picart, X Armoiry, J Berthiller, C Dumot, I Pelissou-Guyotat, F Signorelli, J Guyotat
INTRODUCTION: High-grade gliomas surgery in eloquent areas must achieve two pivotal aims: oncological efficacy and preservation of unimpaired neurological functions or improvement of impaired neurological functions. Here, we evaluated the safety and the usefulness of 5-ALA fluorescence-guided surgery in eloquent areas. MATERIAL AND METHODS: Single center, retrospective and consecutive series of adult patients operated on for a supratentorial glioblastoma between November 2012 and November 2015...
May 15, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28521557/metacognitive-verb-production-in-adolescents-the-link-to-complex-syntax
#18
Marilyn A Nippold, Laura M Vigeland, Megan W Frantz-Kaspar
Metacognitive verbs (MCVs) such as believe, know and think allow a speaker to describe the thoughts, feelings and perspectives of the self and others. As such, these words reflect the speaker's awareness of differing mental events and activities, or Theory of Mind (ToM). This study investigated the use of MCVs in adolescents with typical language development in relation to the production of complex sentences. It was of interest to determine the frequency with which adolescents used MCVs and to explore the links between MCVs and different types of subordinate clauses...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28516224/psychiatric-behaviors-associated-with-cytoskeletal-defects-in-radial-neuronal-migration
#19
REVIEW
Toshifumi Fukuda, Shigeru Yanagi
Normal development of the cerebral cortex is an important process for higher brain functions, such as language, and cognitive and social functions. Psychiatric disorders, such as schizophrenia and autism, are thought to develop owing to various dysfunctions occurring during the development of the cerebral cortex. Radial neuronal migration in the embryonic cerebral cortex is a complex process, which is achieved by strict control of cytoskeletal dynamics, and impairments in this process are suggested to cause various psychiatric disorders...
May 17, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#20
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
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