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https://www.readbyqxmd.com/read/28299880/rates-of-autism-and-potential-risk-factors-in-children-with-congenital-heart-defects
#1
Jessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, Jesse L Chittams, Therese Sammarco, Marsha Gerdes, Judy C Bernbaum, Robert R Clancy, Cynthia B Solot, Elaine H Zackai, Donna M McDonald-McGinn, J William Gaynor
OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders...
March 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28297594/the-role-of-staging-in-planning-psychotherapeutic-interventions-in-depression
#2
Jenny Guidi, Elena Tomba, Fiammetta Cosci, Seung K Park, Giovanni A Fava
CONTEXT: The purpose of this critical review is to examine the role of staging in planning a psychotherapeutic intervention in depressive disorders. EVIDENCE ACQUISITION: English-language studies concerned with staging in depressive disorders were identified in MEDLINE, PsycINFO, and Web of Science and by manual search of the literature. Selection of articles was based on their methodological quality and implications for clinical practice. RESULTS: Staging may allow clinicians to apply a psychotherapeutic intervention to specific phases of the development of depressive disorders: certain psychotherapeutic approaches, such as well-being therapy and mindfulness-based cognitive therapy, appear to be uniquely suited for addressing the residual phase of depression, whereas interpersonal psychotherapy has been mainly tested in the acute phase...
March 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28293185/hypoconnectivity-of-resting-state-networks-in-persons-with-aphasia-compared-with-healthy-age-matched-adults
#3
Chaleece W Sandberg
Aphasia is a language disorder affecting more than one million people in the US. While language function has traditionally been the focus of neuroimaging research, other cognitive functions are affected in this population, which has implications not only for those specific processes but also for the interaction of language and other cognitive functions. Resting state fMRI (rs-fMRI) is a practical and informative way to explore and characterize general cognitive engagement and/or health in this population, but it is currently underutilized...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28293127/care-pathways-in-thrombosis-management-the-innovate-peer-to-peer-educational-initiative
#4
REVIEW
Raj K Patel
CONTEXT: Anticoagulant options for the management of venous thromboembolism (VTE) now include the non-vitamin K antagonist oral anticoagulants (NOACs). The safe and effective integration of these agents into routine clinical practice within different health care settings presents common challenges. Bayer AG created the INternational Network fOr Venous and Arterial Thrombosis Excellence in practice (INNOVATE) program as a professional education network to foster best practice in thrombosis management in the NOAC era...
2017: Advances in Medical Education and Practice
https://www.readbyqxmd.com/read/28289475/combined-genome-wide-linkage-and-targeted-association-analysis-of-head-circumference-in-autism-spectrum-disorder-families
#5
M Woodbury-Smith, D A Bilder, J Morgan, L Jerominski, T Darlington, T Dyer, A D Paterson, H Coon
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#6
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28287902/a-narrative-synthesis-of-the-applicability-of-the-car-fa-x-model-in-child-and-adolescent-populations-a-systematic-review
#7
Tracy M Stewart, Simon C Hunter, Sinéad M Rhodes
The CaR-FA-X model [Williams, J. M. G., Barnhofer, T., Crane, C., Hermans, D., Raes, F., Watkins, E., … Dalgleish, T. (2007). Autobiographical memory specificity and emotional disorder. Psychological Bulletin, 133(1), 122-148. doi: 10.1037/0033-2909.133.1.122 ] is the most prominent and comprehensive model of overgeneral autobiographical memory (OGM) and provides a framework for OGM. The model comprises of three mechanisms, capture and rumination, functional avoidance and impaired executive control...
March 13, 2017: Memory
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#8
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28274259/development-of-the-us-english-version-of-the-phenylketonuria-quality-of-life-pku-qol-questionnaire
#9
Elaina Jurecki, Amy Cunningham, Vanessa Birardi, Grégory Gagol, Catherine Acquadro
BACKGROUND: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers...
March 9, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28274109/what-is-new-in-rome-iv
#10
REVIEW
Max J Schmulson, Douglas Arnold Drossman
Functional gastrointestinal disorders (FGIDs) are diagnosed and classified using the Rome criteria; the criteria may change over time as new scientific data emerge. The Rome IV was released in May 2016. The aim is to review the main changes in Rome IV. FGIDs are now called disorders of gut-brain interaction (DGBI). Rome IV has a multicultural rather than a Western-culture focus. There are new chapters including multicultural, age-gender-women's health, intestinal microenvironment, biopsychosocial, and centrally mediated disorders...
March 9, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/28256688/-learning-disorders-in-neurofibromatosis-type-1
#11
J J Garcia-Penas
INTRODUCTION: Neurocognitive deficits and academic learning difficulties are the most common neurologic complication of neurofibromatosis type 1 (NF1) in childhood and can be responsible for significant lifetime morbidity. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. Studies in animal models suggest that the learning disabilities associated with NF1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA) inhibition and to decreased long-term potentiation...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256101/the-procedural-learning-deficit-hypothesis-of-language-learning-disorders-we-see-some-problems
#12
Gillian West, Miguel A Vadillo, David R Shanks, Charles Hulme
Impaired procedural learning has been suggested as a possible cause of developmental dyslexia (DD) and specific language impairment (SLI). This study examined the relationship between measures of verbal and non-verbal implicit and explicit learning and measures of language, literacy and arithmetic attainment in a large sample of 7 to 8-year-old children. Measures of verbal explicit learning were correlated with measures of attainment. In contrast, no relationships between measures of implicit learning and attainment were found...
March 2, 2017: Developmental Science
https://www.readbyqxmd.com/read/28255759/language-environment-analysis-lena-in-phelan-mcdermid-syndrome-validity-and-suggestions-for-use-in-minimally-verbal-children-with-autism-spectrum-disorder
#13
Jacquelin Rankine, Erin Li, Stacey Lurie, Hillary Rieger, Emily Fourie, Paige M Siper, A Ting Wang, Joseph D Buxbaum, Alexander Kolevzon
Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations...
March 2, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28253384/research-to-establish-the-validity-reliability-and-clinical-utility-of-a-comprehensive-language-assessment-of-mandarin
#14
Xueman Lucy Liu, Jill de Villiers, Chunyan Ning, Eric Rolfhus, Teresa Hutchings, Wendy Lee, Fan Jiang, Yi Wen Zhang
Purpose: With no existing gold standard for comparison, challenges arise for establishing the validity of a new standardized Mandarin language assessment normed in mainland China. Method: A new assessment, Diagnostic Receptive and Expressive Assessment of Mandarin (DREAM), was normed with a stratified sample of 969 children ages 2;6 (years;months) to 7;11 in multiple urban and nonurban regions in northern and southern China. In this study of 230 children, the sensitivity and specificity of DREAM were examined against an a priori judgment of disorders...
March 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28252812/hepatitis-c-virus-and-its-cutaneous-manifestations-treatment-in-the-direct-acting-antiviral-era
#15
REVIEW
L E Wiznia, M E Laird, A G Franks
New all-oral direct acting antivirals (DAA) have changed the hepatitis C virus (HCV) treatment landscape. Given that dermatologists frequently encounter HCV-infected patients, knowledge of the current treatment options and their utility in treating HCV-associated dermatologic disorders is important. In addition to highlighting the new treatment options, we review four classically HCV-associated dermatologic disorders - mixed cryoglobulinemia (MC), lichen planus (LP), porphyria cutanea tarda (PCT), and necrolytic acral erythema (NAE) - and examine the role for all-oral direct acting antiviral (DAA) regimens in their treatment...
March 2, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28247338/development-and-psychometric-evaluation-of-the-metabqol-1-0-a-quality-of-life-questionnaire-for-paediatric-patients-with-intoxication-type-inborn-errors-of-metabolism
#16
Nina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker, Chris Mühlhausen, Sabine Scholl-Bürgi, Eva Thimm, Julia Quitmann, Peter Burgard, Markus A Landolt, Martina Huemer
INTRODUCTION: This study is part of the "European network and registry for intoxication type metabolic diseases" (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients' lives. Patients have to adhere to strict diet and medication and may suffer from metabolic crises and neurocognitive impairment. Disease-specific health-related quality of life (HrQoL) assessment questionnaires are the method of choice to estimate the subjective burden of a disease...
March 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28242338/the-relationship-between-impulse-control-disorders-and-cognitive-dysfunctions-in-parkinson-s-disease-a-meta-analysis
#17
REVIEW
Gabriella Santangelo, Simona Raimo, Paolo Barone
Impulse Control Disorders (ICD) are associated with impairment in cognitive flexibility and cortical inhibition. In Parkinson's Disease (PD) the relationship between ICD and cognitive dysfunctions is still unclear: some studies found different cognitive profiles between Parkinsonians with and without ICD, whereas others did not. Moreover, findings from studies on ICD in PD are conflicting on which cognitive function is altered. A meta-analysis of 34 studies was performed to shed light on relationship between ICD and cognitive dysfunctions and to reveal the cognitive function compromised in Parkinsonians with ICD...
February 24, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28242133/comparison-of-voice-handicap-index-scores-between-female-students-of-speech-therapy-and-other-health-professions
#18
Dionysios Tafiadis, Spyridon K Chronopoulos, Vassiliki Siafaka, Konstantinos Drosos, Evangelia I Kosma, Eugenia I Toki, Nausica Ziavra
Students' groups (eg, teachers, speech language pathologists) are presumably at risk of developing a voice disorder due to misuse of their voice, which will affect their way of living. Multidisciplinary voice assessment of student populations is currently spread widely along with the use of self-reported questionnaires. This study compared the Voice Handicap Index domains and item scores between female students of speech and language therapy and of other health professions in Greece. We also examined the probability of speech language therapy students developing any vocal symptom...
February 24, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28240650/access-to-developmental-pediatrics-evaluations-for-at-risk-children
#19
Manuel E Jimenez, Emmanuel M Alcaraz, Jerome Williams, Brian L Strom
OBJECTIVE: To determine a national average wait time for developmental pediatric evaluations and to understand differences in access based on whether an appointment is requested by an English or Spanish-speaking caller. METHODS: We conducted a mystery shopper study in which a bilingual research assistant called developmental pediatrics programs affiliated with US children's hospitals listed on a public directory requesting an appointment for his simulated child experiencing a developmental problem...
February 23, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28236780/treating-conduct-disorder-an-effectiveness-and-natural-language-analysis-study-of-a-new-family-centred-intervention-program
#20
Kimberly A Stevens, Prof Kevin Ronan, Gene Davies
This paper reports on a new family-centred, feedback-informed intervention focused on evaluating therapeutic outcomes and language changes across treatment for conduct disorder (CD). The study included 26 youth and families from a larger randomised, controlled trial (Ronan et al., in preparation). Outcome measures reflected family functioning/youth compliance, delinquency, and family goal attainment. First- and last-treatment session audio files were transcribed into more than 286,000 words and evaluated through the Linguistic Inquiry and Word Count Analysis program (Pennebaker et al...
November 27, 2016: Psychiatry Research
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