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Non verbal syndrom

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https://www.readbyqxmd.com/read/28277153/delineation-of-a-spatial-working-memory-profile-using-a-non-verbal-eye-tracking-paradigm-in-young-children-with-autism-and-williams-syndrome
#1
Peter A J Fanning, Darren R Hocking, Cheryl Dissanayake, Giacomo Vivanti
Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands...
February 9, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28276184/childhood-predictors-of-written-expression-in-late-adolescents-with-22q11-2-deletion-syndrome-a-longitudinal-study
#2
N Hamsho, K M Antshel, T L Eckert, W R Kates
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that can impact an individual's overall academic performance, potentially resulting in increased levels of stress and exacerbation of psychiatric symptoms...
March 8, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28247486/developmental-changes-in-the-cognitive-and-educational-profiles-of-children-and-adolescents-with-22q11-2-deletion-syndrome
#3
Valentina Tobia, Sophie Brigstocke, Charles Hulme, Margaret J Snowling
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. The presence of learning difficulty is reported in the majority of individuals with 22q11DS, but there is considerable heterogeneity in cognitive and educational profiles and in the age-related changes. METHOD: Verbal, non-verbal and spatial abilities, and educational attainment of 18 children and adolescents with 22q11DS were assessed at two time points 5 years apart...
March 1, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#4
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28185328/where-is-the-subjective-straight-ahead-in-williams-syndrome
#5
A Saj, J Heiz, K Barisnikov
BACKGROUND: Individuals with Williams Syndrome (WS) are known to have particular difficulties when performing visuo-spatial tasks, which could be related to their difficulties in using a specific reference system to determine spatial relations. The aim of the present study was to assess the internal representation of the body's sagittal plane, which is an important benchmark for an egocentric frame of reference. METHOD: The results of 18 WS individuals (mean age = 20...
February 10, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28145167/-our-nurse-has-been-an-amazing-advocate-for-our-non-verbal-child
#6
(no author information available yet)
My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out.
February 1, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28127863/signs-of-dysarthria-in-adults-with-22q11-2-deletion-syndrome
#7
Christina Persson, Katja Laakso, Hannah Edwardsson, Johanna Lindblom, Lena Hartelius
The aim of the study was to investigate how adults with 22q11.2 deletion syndrome (22q11DS) performed on dysarthria and intelligibility tests compared with a control group. Ten participants with confirmed 22q11.2 deletion, five males and five females with a mean age of 31 years (range: 19-49), were compared with a control group matched for gender and age (five males and five females, mean age: 32 years, range: 19-49). Assessment of non-verbal and verbal tasks reflecting respiration, phonation, oral motor function, velopharyngeal function, articulation, and prosody was performed as well as the Swedish Test of Intelligibility (STI)...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28074148/apraxia-of-speech-and-cerebellar-mutism-syndrome-a-case-report
#8
E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
BACKGROUND: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28018980/the-londowns-adult-cognitive-assessment-to-study-cognitive-abilities-and-decline-in-down-syndrome
#9
Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, Amy Davies, Erin Rodger, Nidhi Aggarwal, Tamara Al-Janabi, André Strydom
BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer's disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/28006970/phase-ii-clinical-trial-of-atorvastatin-in-mild-traumatic-brain-injury
#10
Claudia S Robertson, James J McCarthy, Emmy R Miller, Harvey Levin, Stephen R McCauley, Paul R Swank
Statins constitute a class of medications commonly used in the treatment of elevated cholesterol. However, in experimental studies, statins also have other non-cholesterol-mediated mechanisms of action, which may have neuroprotective effects. The aim of this study was to determine whether administration of atorvastatin for 7 days post-injury would improve neurological recovery in patients with mild traumatic brain injury (mTBI). The hypothesis was that atorvastatin administration would reduce post-concussion symptoms and also that atorvastatin administration for 1 week post-injury would be safe...
February 27, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27990716/quantitative-measurement-of-communication-ability-in-children-with-angelman-syndrome
#11
Joseph C Grieco, Ruth H Bahr, Mike R Schoenberg, Laura Conover, Lauren N Mackie, Edwin J Weeber
BACKGROUND: Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals a performance level at or near the floor of the instrument resulting in an inability to detect change when experimental therapeutics are applied. METHODS: Nine individuals, with molecularly confirmed AS, ranging in age from 34 to 126 months, and a single healthy control child (age 16 months) were audio and video-recorded while interacting with a licensed speech-language pathologist in an attempt to elicit vocalization and non-verbal communication...
December 19, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27965607/impaired-spatial-category-representations-in-williams-syndrome-an-investigation-of-the-mechanistic-contributions-of-non-verbal-cognition-and-spatial-language-performance
#12
Emily K Farran, Lauren Atkinson, Hannah Broadbent
The aims of this study were to: provide a precise characterisation of spatial category representations in Williams syndrome (WS); to determine the nature of the mechanistic contributions from spatial language performance and non-verbal cognition to spatial category representations in WS; and to explore the stability of spatial category representations in WS using error analysis. Spatial category representation was assessed across nine spatial categories (In, On, Under, In Front, Behind, Above, Below, Left, and Right) using an odd-one-out task...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27915588/reversible-cerebral-vasoconstriction-syndrome
#13
Michael Perdices, Geoffrey Herkes
Reversible cerebral vasoconstriction syndrome (RCVS) is a relatively rare, non-progressive angiopathy frequently heralded by severe thunderclap headache. It is characterised by vasoconstriction of cerebral arteries which usually resolves within three months of onset. Transient focal neurological signs may occur, and persistent deficits associated with haemorrhagic comorbidities have been reported in a small percentage of individuals. In this paper we report the case of RH, a 36-year-old woman who presented at a university teaching hospital in Sydney with a clinical history and radiological evidence consistent with RCVS...
December 5, 2016: Neuropsychological Rehabilitation
https://www.readbyqxmd.com/read/27906949/pulsed-compared-to-thermal-radiofrequency-to-the-medial-calcaneal-nerve-for-management-of-chronic-refractory-plantar-fasciitis-a-prospective-comparative-study
#14
Ayman M Osman, Dina H El-Hammady, Mohamed M Kotb
BACKGROUND: Radiofrequency (RF) treatment is a minimally invasive procedure that has been used for more than 3 decades in treating various chronic pain syndromes. Conventional (continuous) RF treatment occasionally results in worsening or even initiating a new type of pain. The use of pulsed radiofrequency (PRF), which has a non- or minimally neurodestructive neuromodulatory effect, serves as an alternative to conventional RF therapy in many medical situations. OBJECTIVES: To evaluate the effect of applying PRF for 6 minutes vs...
November 2016: Pain Physician
https://www.readbyqxmd.com/read/27895602/motivational-and-behavioral-activation-as-an-adjunct-to-psychiatric-rehabilitation-for-mild-to-moderate-negative-symptoms-in-individuals-with-schizophrenia-a-proof-of-concept-pilot-study
#15
Kee-Hong Choi, Eunju Jaekal, Ga-Young Lee
Few psychosocial approaches address the negative symptoms of schizophrenia, which shares common features with depression and anxiety. Behavioral activation (BA) is effective for addressing depression and anxiety in adults with various mental disorders. Motivational interviewing (MI) has been successfully applied to address ambivalence or lack of motivation toward treatment. Motivational and behavioral activation (mBA) has been developed by incorporating the core principles from BA and MI with recent findings on the negative symptoms of schizophrenia...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27854093/posterior-reversible-encephalopathy-syndrome-mimicking-brainstem-infarction-a-dilemma
#16
Tsung-Han Ho, Chia-Lin Tsai, Yaw-Don Hsu, Jiunn-Tay Lee, Fu-Chi Yang, Chia-Ching Hsu, Chun-Chieh Lin
PURPOSE: We had recently reported one case at American Journal of Emergency Medicine about centralvariant posterior reversible encephalopathy syndrome (PRES) in an 84-year-old woman with an initial misdiagnosis as central pontine myelinolysis (CPM). Here, we introduce another case of centralvariant PRES in a 49-year-old man mimicking as acute brainstem infarction in the cranial computed tomography (CT) findings. CASE REPORT: A 49-year-old man was admitted to the emergency department with a 5-day history of vertigo, cognitive decline, and difficulty in walking...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27752075/folinic-acid-improves-verbal-communication-in-children-with-autism-and-language-impairment-a-randomized-double-blind-placebo-controlled-trial
#17
R E Frye, J Slattery, L Delhey, B Furgerson, T Strickland, M Tippett, A Sailey, R Wynne, S Rose, S Melnyk, S Jill James, J M Sequeira, E V Quadros
We sought to determine whether high-dose folinic acid improves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language impairment in a double-blind placebo control setting. Forty-eight children (mean age 7 years 4  months; 82% male) with ASD and language impairment were randomized to receive 12 weeks of high-dose folinic acid (2 mg kg(-1) per day, maximum 50 mg per day; n=23) or placebo (n=25). Children were subtyped by glutathione and folate receptor-α autoantibody (FRAA) status...
October 18, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27644018/expanding-the-phenotype-of-triple-x-syndrome-a-comparison-of-prenatal-versus-postnatal-diagnosis
#18
Kristen Wigby, Cheryl D'Epagnier, Susan Howell, Amy Reicks, Rebecca Wilson, Lisa Cordeiro, Nicole Tartaglia
Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27623250/exome-sequencing-coupled-with-mrna-analysis-identifies-ndufaf6-as-a-leigh-gene
#19
Laura Bianciardi, Valentina Imperatore, Erika Fernandez-Vizarra, Angela Lopomo, Micol Falabella, Simone Furini, Paolo Galluzzi, Salvatore Grosso, Massimo Zeviani, Alessandra Renieri, Francesca Mari, Elisa Frullanti
We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models. Dosage of respiratory chain activity on fibroblasts, but not in muscle, underlined a deficit in complex I. Re-analysis of heterozygous probably pathogenic variants, inherited from one healthy parent, identified the p...
September 3, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27593255/brain-network-underlying-the-improvement-of-social-functioning-in-schizophrenic-patients-after-one-year-treatment-with-social-skills-training
#20
Stelvio Sestini, Rosanna Perone, Sandro Domenichetti, Christian Mazzeo, Veronica Massai, Alessandra Rispoli, Agnese Barbacci, Angela Valtancoli, Antonio Castagnoli, Luigi Mansi
PURPOSE: To assess changes in social and neuro-cognition and regional cerebral blood flow (rCBF) in schizophrenic patients with psychotic syndrome treated with Social Skill Training (SST). METHODS: 17 patients underwent two high resolution rCBF SPECT at rest before and after a one-year treatment with SST. Patients were assessed using a neuropsychological evaluation (W.A.I.S.-R, T.M.T, Verbal Fluency, W.C.S.T.). SPM8 was used to investigate rCBF changes from the pre- to the post-SST condition and the relationship between rCBF and clinical scores used as covariates of interest...
2016: Current Radiopharmaceuticals
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