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Non verbal syndrom

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
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
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
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
Serge J W Walvoort, Paul T van der Heijden, Arie J Wester, Roy P C Kessels, Jos I M Egger
Patients with Korsakoff's syndrome (KS) typically have difficulties in recognizing the impact of their alcohol-related cognitive deficits on daily-life functioning. In this study, mean scores on self-reported complaints (measured with Minnesota Multiphasic Personality Inventory-2-Restructured Form; MMPI-2-RF) and cognitive performance (measured with the Wechsler Adult Intelligence Scale-Third edition; WAIS-III; and the California Verbal Learning Test; CVLT) are compared between two matched patient groups with severe (KS) and mild alcohol-related cognitive disorders or non KS (NKS)...
November 30, 2016: Psychiatry Research
E Will, D J Fidler, L Daunhauer, B Gerlach-McDonald
BACKGROUND: Executive function (EF) plays a critical role in academic outcomes in typically developing children, but the contribution of EF to academic performance in Down syndrome (DS) is less well understood. This study evaluated differences in early academic foundations between primary school aged children with DS and non-verbal mental-age matched typically developing (TD) children. Additionally, the contribution of EF domains to academic outcomes was evaluated in each group. METHOD: Participants with DS (n = 29) and mental-age matched TD participants (n = 23) were administered the Woodcock Johnson- III NU Tests of Academic Achievement, as well as a laboratory-based EF battery, including measures of working memory, shifting, inhibition and object-planning...
August 26, 2016: Journal of Intellectual Disability Research: JIDR
Moritz Tacke, Lucia Gerstl, Florian Heinen, Isabel Heukaeufer, Michaela Bonfert, Thomas Bast, Sonia Cornell, Bernd Axel Neubauer, Ingo Borggraefe
INTRODUCTION: Benign epilepsy with centrotemporal spikes (BECTS) is a common epilepsy syndrome in childhood. Besides the occurrence of seizures, mild cognitive impairments and behavioral problems affecting language skills, spatial perception, memory, executive function, and academic achievement might be present. There is no international consensus about the decision whether or not to treat affected children. The influence of treatment on cognitive functions is debated. METHODS: Patients diagnosed with BECTS were assessed in short term auditory memory, long-term verbal memory, intelligence and behavior using the "number recall" test from the Kaufman assessment battery for children, the "verbal learning memory test", the "culture free intelligence test" and the "child behavior checklist" prior to a randomized controlled antiepileptic therapy and after a treatment period of 6 months with either sulthiame or levetiracetam...
November 2016: European Journal of Paediatric Neurology: EJPN
E Van Den Heuvel, E Manders, A Swillen, I Zink
BACKGROUND: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. METHOD: Twelve monolingual Dutch-speaking children with WS aged 5.10 to 13.3 years were assessed by means of standardised structural language tests measuring receptive and expressive vocabulary and sentence comprehension and production...
October 2016: Journal of Intellectual Disability Research: JIDR
J Heiz, K Barisnikov
BACKGROUND: Williams syndrome (WS) is characterised by severe deficits in visual-spatial abilities in contrast to relatively well-developed language abilities. There is very limited knowledge about visual-motor integration (VMI) in people with WS. METHOD: Twenty-six participants with WS aged 6 to 41 years were assessed with all three tests of the Beery-VMI test, namely the VMI test, the visual perception test (VP) and the motor coordination test (MC). Their results were compared with those of 154 typically developing children (TD) aged 4 to 12...
October 2016: Journal of Intellectual Disability Research: JIDR
Andrew Taylor, Adam Sutherland
INTRODUCTION: Clinical supervision is defined by Barber and Norman as having four main functions: educational, supportive, managerial and development of self-awareness.1 It is common practice within initial pharmacy education for clinical supervision to take place at undergraduate, pre-registration and foundation level pharmacist stages. But what about the specialist trainees? It is probably a fair observation that the amount of clinical supervision provided for pharmacists undergoing their advanced level practice drops vividly...
September 2016: Archives of Disease in Childhood
Cristina D Dye, Matthew Walenski, Stewart H Mostofsky, Michael T Ullman
Tourette syndrome (TS) is characterized by motor and vocal tics, and frontal/basal-ganglia abnormalities. Whereas cognitive strengths have been found in other neurodevelopmental disorders, less attention has been paid to strengths in TS, or to verbal strengths in any neurodevelopmental disorder. We examined whether the finding of speeded TS production of rule-governed morphological forms (e.g., "slipped") that involve composition (Walenski, Mostofsky, & Ullman, 2007) might extend to another language domain, phonology...
September 2016: Brain and Language
Gloria Roldan Urgoiti, Aynharan Sinnarajah, Seema Hussain, Desiree Hao
Delirium in patients with cancer is associated with poor outcomes, but reversible causes need to be ruled out. We report the case of a 59-year-old woman who was presented with behavioural and cognitive changes over 2 weeks. She was non-verbal and combative, requiring involuntary admission and declaration of incompetence to make healthcare treatment decisions. Infectious and metabolic investigations and initial brain imaging were unremarkable. She was diagnosed with limited-stage small cell lung cancer and a paraneoplastic neuropsychiatric syndrome...
July 28, 2016: BMJ Supportive & Palliative Care
Eliseo Diez-Itza, Verónica Martínez, Aránzazu Antón
BACKGROUND: Williams syndrome (WS) is a genetic disorder associated with intellectual disability and characterised by displaying an atypical neuropsychological profile, with peaks and valleys, where language skills seem better preserved than non-verbal intelligence. METHOD: This study researches the narrative competence of nine Spanish-speaking adults with WS. Oral narratives were elicited from a silent film, and narrative coherence was analysed as a function of sequential order of the events narrated at three structure levels, while narrative cohesion was assessed through the frequency of use and type of discourse markers...
August 2016: Psicothema
Wai Sze Paulin Ma, Ting Chung Pun
OBJECTIVES: To determine the prevalence of domestic violence and its risk factors in women presenting with urinary symptoms. METHODS: The study was carried out in the urogynecology clinic and general gynecology clinic, Department of Obstetrics and Gynecology, Queen Mary Hospital, Hong Kong from 1st May 2013 till 31st October 2014. Two hundred and twenty-five women presenting to the urogynecology clinic with urinary symptoms were categorized according to their symptoms and were asked to complete the Modified Abuse Assessment Screen...
2016: PloS One
Ferdi Köşger, Altan Eşsizoğlu, İpek Sönmez, Gülcan Güleç, Müge Genek, Özlem Akarsu
OBJECTIVE: We aimed to investigate the predictive factors of violent behavior in schizophrenia and the relationship between violent behavior and insight and cognitive functions in this study. METHOD: 68 patients diagnosed with schizophrenia were separated into two groups; with a history of violent behavior (n = 30) and without (n = 38). Both group swere administered the Positiveand Negative Syndrome Scale (PANSS), Buss-Perry Aggression Questionnaire, Schedule for Assessing the Three Components of Insight, California Verbal Learning Test (CVLT), Trail Making Test, Wisconsin Card Sorting Test, and Stroop Test...
2016: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
Alejandro Cáceres, Tõnu Esko, Irene Pappa, Armand Gutiérrez, Maria-Jose Lopez-Espinosa, Sabrina Llop, Mariona Bustamante, Henning Tiemeier, Andres Metspalu, Peter K Joshi, James F Wilsonx, Judith Reina-Castillón, Jean Shin, Zdenka Pausova, Tomáš Paus, Jordi Sunyer, Luis A Pérez-Jurado, Juan R González
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates...
2016: PloS One
Wei Zheng, Ying-Qiang Xiang, Xian-Bin Li, Gabor S Ungvari, Helen F K Chiu, Feng Sun, Carl D'Arcy, Xiangfei Meng, Yu-Tao Xiang
OBJECTIVE: The aim of this study was to examine the efficacy of huperzine A (HupA), an isolate of Huperzine serrata, in the treatment of cognitive deficits in schizophrenia spectrum disorders. METHODS: PubMed, PsycINFO, Embase, Cochrane Library, Cochrane Controlled Trials Register, WanFang, Chinese Biomedical, and China Journal Net databases were searched from inception to 15 July 2015 for randomized controlled trials (RCTs) in English or Chinese of HupA augmentation of antipsychotic drug therapy versus placebo or ongoing antipsychotic treatment...
July 2016: Human Psychopharmacology
Amanda K Ludlow, Arnold J Wilkins
Certain visual disturbances make it difficult to read text and have been attributed to visual stress, also called "pattern-related visual stress". 12 Children with ASD, 12 children with Tourette's syndrome and without ASD and 12 controls, all matched on age and non verbal ability, participated in an experiment exploring sensory behaviours and visual stress. Reading rate and accuracy were assessed with the Wilkins Rate of Reading test with and without the Intuitive Overlays. Both the children with Tourette's and the children with ASD showed a higher prevalence of atypical sensory behaviours and symptoms of visual stress than the typically developing control children...
September 2016: Research in Developmental Disabilities
P N Doku, H Minnis
BACKGROUND: There is little knowledge about the psychosocial distress of children affected by human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) in Ghana, to aid the planning of services. This study investigated mental health problems among children affected by HIV/AIDS, compared with control groups of children orphaned by other causes, and non-orphans. METHOD: The study employed a cross-sectional survey that interviewed 291 children and their caregivers...
August 2016: Psychological Medicine
Rachel L Moseley, Marta M Correia, Simon Baron-Cohen, Yury Shtyrov, Friedemann Pulvermüller, Bettina Mohr
Atypical language is a fundamental feature of autism spectrum conditions (ASC), but few studies have examined the structural integrity of the arcuate fasciculus, the major white matter tract connecting frontal and temporal language regions, which is usually implicated as the main transfer route used in processing linguistic information by the brain. Abnormalities in the arcuate have been reported in young children with ASC, mostly in low-functioning or non-verbal individuals, but little is known regarding the structural properties of the arcuate in adults with ASC or, in particular, in individuals with ASC who have intact language, such as those with high-functioning autism or Asperger syndrome...
2016: Frontiers in Human Neuroscience
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