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[PMID]: 23280400
[Au] Autor:Banning A; Rüde TR; Dölling B
[Ad] Address:RWTH Aachen University, Institute of Hydrogeology, Lochnerstraße 4-20, 52064 Aachen, Germany. Electronic address: banning@hydro.rwth-aachen.de.
[Ti] Title:Crossing redox boundaries--aquifer redox history and effects on iron mineralogy and arsenic availability.
[So] Source:J Hazard Mater;262:905-14, 2013 Nov 15.
[Is] ISSN:1873-3336
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Cretaceous shallow marine sediments from northwestern Germany exhibit a distinct colour and geochemical boundary in a depth of several decametres, witnessing a terrestrial oxidative paleo redox process which resulted in cement loss and oxidation of Fe(II) phases. Sediment samples were obtained from boreholes drilled in near-coastal and further basinward paleo environments, including both reduced and oxidized redox facies, to characterize As and Fe occurrence in unaltered layers and redistributional consequences of the redox event. Geochemical and mineralogical composition and As fractionation were assessed. Arsenic resides in pyrite in the reduced section with a bulk rock maximum concentration of 39 µg g(-1), calculated Aspyrite is ~0.2 wt.%. Siderite concretions in the fine sands do not function as As sinks, neither does glauconite whose general As/Fe leaching behaviour was characterized. In the zone of redox transition, reduced and oxidized phases coexist and elevated As concentrations (up to 73 µg g(-1)) with high proportions of reactive As were detected. Arsenic behaviour changes from relatively homogeneous Fe sulphide-control in the unaltered sediments to very heterogeneous Fe hydroxide-control above the paleo redox boundary. The studied characteristics determine recent As availability in the subsurface and must be considered during groundwater extraction from this highly important aquifer.
[Mh] MeSH terms primary: Arsenic/chemistry
Geology
Groundwater/chemistry
Oxidation-Reduction
[Mh] MeSH terms secundary: Arsenic/analysis
Carbonates/chemistry
Environmental Monitoring/methods
Ferric Compounds/chemistry
Ferrous Compounds/chemistry
Geography
Geologic Sediments/chemistry
Germany
Hydrogen-Ion Concentration
Iron/chemistry
Minerals/chemistry
Oxygen/chemistry
Sulfides/chemistry
Water Pollutants, Chemical
X-Ray Diffraction
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Carbonates); 0 (Ferric Compounds); 0 (Ferrous Compounds); 0 (Minerals); 0 (Sulfides); 0 (Water Pollutants, Chemical); 0 (glauconite); 1309-36-0 (pyrite); E1UOL152H7 (Iron); MZ3Q72U52O (siderite); N712M78A8G (Arsenic); S88TT14065 (Oxygen)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131118
[St] Status:MEDLINE

  2 / 5253 MEDLINE  
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[PMID]: 24377100
[Au] Autor:Hsu CF
[Ti] Title:Cross-modal contextual coherence of information integration in people with Williams syndrome.
[So] Source:Res Dev Disabil;34(12):4319-27, 2013 Dec.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This study aimed to explore the generalization of contextual integration from within-modality (visual-visual) to cross-modal (visual-auditory) processing in people with Williams syndrome (WS), and to clarify whether the concreteness or social relatedness of stimuli contributed to contextual coherence using pictures. Contextual coherence was evaluated in accordance with context-appropriateness between visual backgrounds and auditory targets. The ability to judge appropriateness was defined as contextual integration ability, which leads to contextual coherence. The congruent conditions (e.g., a swimming pool vs. swimming goggles) and incongruent conditions (e.g., a movie theater vs. a hot-pot) were presented to people with WS and to typical controls. The results revealed a congruency effect in people with WS similar to that found in the typical controls matched by mental age. The generalization of contextual integration ability across modalities was demonstrated by comparing the findings on cross-modal presentation with those obtained in a within-modality visual study of people with WS. It was further clarified that the social relatedness of stimuli, and not concreteness, led to contextual coherence among people with WS.
[Mh] MeSH terms primary: Auditory Perception/physiology
Cognition Disorders/physiopathology
Concept Formation/physiology
Visual Perception/physiology
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Adolescent
Adult
Case-Control Studies
Child
Cognition Disorders/psychology
Female
Humans
Male
Williams Syndrome/psychology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131227
[St] Status:MEDLINE

  3 / 5253 MEDLINE  
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[PMID]: 24210355
[Au] Autor:Kirk HE; Hocking DR; Riby DM; Cornish KM
[Ad] Address:School of Psychology and Psychiatry, Monash University, Australia. Electronic address: hannah.kirk@monash.edu.
[Ti] Title:Linking social behaviour and anxiety to attention to emotional faces in Williams syndrome.
[So] Source:Res Dev Disabil;34(12):4608-16, 2013 Dec.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The neurodevelopmental disorder Williams syndrome (WS) has been associated with a social phenotype of hypersociability, non-social anxiety and an unusual attraction to faces. The current study uses eye tracking to explore attention allocation to emotionally expressive faces. Eye gaze and behavioural measures of anxiety and social reciprocity were investigated in adolescents and adults with WS when compared to typically developing individuals of comparable verbal mental age (VMA) and chronological age (CA). Results showed significant associations between high levels of behavioural anxiety and attention allocation away from the eye regions of threatening facial expressions in WS. The results challenge early claims of a unique attraction to the eyes in WS and suggest that individual differences in anxiety may mediate the allocation of attention to faces in WS.
[Mh] MeSH terms primary: Anxiety/psychology
Attention/physiology
Emotions
Recognition (Psychology)
Social Behavior
Social Perception
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Case-Control Studies
Child
Eye Movement Measurements
Facial Expression
Female
Fixation, Ocular/physiology
Humans
Male
Pattern Recognition, Visual/physiology
Williams Syndrome/physiopathology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131115
[St] Status:MEDLINE

  4 / 5253 MEDLINE  
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[PMID]: 24139712
[Au] Autor:Hanley M; Riby DM; Caswell S; Rooney S; Back E
[Ad] Address:Department of Psychology, Durham University, UK. Electronic address: mary.hanley@durham.ac.uk.
[Ti] Title:Looking and thinking: how individuals with Williams syndrome make judgements about mental states.
[So] Source:Res Dev Disabil;34(12):4466-76, 2013 Dec.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Individuals with the neuro-developmental disorder Williams syndrome (WS) are characterised by a combination of features which makes this group vulnerable socially, including mild-moderate cognitive difficulties, pro-social drive, and indiscriminate trust. The purpose of this study was to explore a key socio-communicative skill in individuals with WS, namely, mental state recognition abilities. We explored this skill in a detailed way by looking at how well individuals with WS recognise complex everyday mental states, and how they allocate their attention while making these judgements. Participants with WS were matched to two typically developing groups for comparison purposes, a verbal ability matched group and a chronological age matched group. While eye movements were recorded, participants were shown displays of eight different mental states in static and dynamic form, and they performed a forced-choice judgement on the mental state. Mental states were easier to recognise in dynamic form rather than static form. Mental state recognition ability for individuals with WS was poorer than expected by their chronological age, and at the level expected by their verbal ability. However, the pattern of mental state recognition for participants with WS varied according to mental state, and we found some interesting links between ease/difficulty recognising some mental states (worried/do not trust) and the classic behavioural profile associated with WS (high anxiety/indiscriminate trust). Furthermore, eye tracking data revealed that participants with WS allocated their attention atypically, with less time spent attending the information from the face regions. This challenges the widely held understanding of WS being associated with prolonged face and eye gaze, and indicates that there is more heterogeneity within this disorder in terms of socio-perception than previous reports would suggest.
[Mh] MeSH terms primary: Attention/physiology
Emotions
Facial Expression
Pattern Recognition, Visual/physiology
Recognition (Psychology)/physiology
Social Perception
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Adolescent
Adult
Case-Control Studies
Child
Eye Movement Measurements
Female
Fixation, Ocular/physiology
Humans
Judgment
Male
Middle Aged
Visual Perception/physiology
Williams Syndrome/psychology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131115
[St] Status:MEDLINE

  5 / 5253 MEDLINE  
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[PMID]: 24139709
[Au] Autor:Nordstrøm M; Hansen BH; Paus B; Kolset SO
[Ad] Address:Frambu Resource Centre for Rare Disorders, Sandbakkveien 18, 1404 Siggerud, Norway; University of Oslo, Institute of Basic Medical Sciences, Department of Nutrition, P.O. Box 1046, Blindern, 0317 Oslo, Norway. Electronic address: mal@frambu.no.
[Ti] Title:Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome.
[So] Source:Res Dev Disabil;34(12):4395-403, 2013 Dec.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In this study we describe by use of accelerometers the total physical activity (PA), intensity pattern and walking capacity in 87 persons age 16-45 years with Down syndrome (DS), Williams syndrome (WS) and Prader-Willi syndrome (PWS). Participants were recruited from all over Norway, and lived either with their parents or in community residences with support. On average the participants generated 294 counts per minute (cpm) or 6712 steps per day, with most of the day spent in sedentary activity, 522 min/day, followed by 212 min/day in light PA, 71 min/day in lifestyle activity and 27 min/day in moderate-to-vigorous physical activity (MVPA). Inactivity was prevalent, as only 12% meet the current Nordic recommendations for PA. When compared, no differences for total physical activity or time in MVPA were observed between the three groups. However, participant with DS spent a mean of 73 min/day less and 43 min/day less in sedentary activities compared to participants with PWS and WS, respectively, (p=0.011, 95% CI: -10.9; -80.1). In addition the DS-group spent a mean of 66 min/day more in light PA than the PWS-group and 41 min/day more than the WS-group, (p<0.001, 95% CI: 29.3; 79.7). Participants with PWS spent on average 30 min/day less in lifestyle activities compared to both participants with DS and WS, (p<0.001, 95% CI: -14.2; -45.4). No association between total PA and BMI were observed. Males were more active than females across all diagnoses. Males accumulated on average 85 counts per minutes more than females, (p=0.002, 95% CI: 33.3; 136.7), 2137 more steps per day, (p=0.002, 95% CI: 778; 3496). The mean walking capacity during six-minutes was 507 m (SD 112 m) for males and 466 m (SD 88 m) for females. Distance walked during testing decreased with 33.6 m when comparing normal or underweight participants to overweight participants, and 78.1 m when comparing overweight to obese participants (p<0.001 95% CI: -40.4; -85.8). When adjusted for BMI no differences in walking capacity between the three genetic conditions were observed.
[Mh] MeSH terms primary: Down Syndrome/physiopathology
Exercise/physiology
Motor Activity/physiology
Prader-Willi Syndrome/physiopathology
Walking/physiology
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Accelerometry
Activities of Daily Living
Adolescent
Adult
Body Mass Index
Down Syndrome/complications
Exercise Test
Female
Humans
Male
Middle Aged
Obesity/complications
Overweight/complications
Prader-Willi Syndrome/complications
Williams Syndrome/complications
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131115
[St] Status:MEDLINE

  6 / 5253 MEDLINE  
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[PMID]: 24095844
[Au] Autor:Palomares M; Shannon MT
[Ad] Address:Department of Psychology, University of South Carolina, 1512 Pendleton Street, Columbia, SC 29208, United States. Electronic address: mcp@ski.org.
[Ti] Title:Global dot integration in typically developing children and in Williams syndrome.
[So] Source:Brain Cogn;83(3):262-70, 2013 Dec.
[Is] ISSN:1090-2147
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Williams Syndrome (WS) is a neurodevelopmental disorder that results in deficits in visuospatial perception and cognition. The dorsal stream vulnerability hypothesis in WS predicts that visual motion processes are more susceptible to damage than visual form processes. We asked WS participants and typically developing children to detect the global structure Glass patterns, under "static" and "dynamic" conditions in order to evaluate this hypothesis. Sequentially presented Glass patterns are coined as dynamic because they induce illusory motion, which is modeled after the interaction between orientation (form) and direction (motion) mechanisms. If the dorsal stream vulnerability holds in WS participants, then they should process real and illusory motion atypically. However, results are consistent with the idea that form and motion integration mechanisms are functionally delayed or attenuated in WS. Form coherence thresholds for both static and dynamic Glass patterns in WS were similar to those of 4-5year old children, younger than what is predicted by mental age. Dynamic presentation of Glass patterns improved thresholds to the same degree as typical participants. Motion coherence thresholds in WS were similar to those of mental age matches. These data pose constraints on the dorsal vulnerability hypothesis, and refine our understanding of the relationship between form and motion processing in development.
[Mh] MeSH terms primary: Child Development/physiology
Visual Perception/physiology
Williams Syndrome/physiopathology
[Mh] MeSH terms secundary: Adolescent
Adult
Age Factors
Child
Child, Preschool
Form Perception/physiology
Humans
Motion Perception/physiology
Pattern Recognition, Visual
Space Perception/physiology
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131112
[St] Status:MEDLINE

  7 / 5253 MEDLINE  
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[PMID]: 24090671
[Au] Autor:Laffargue F; Lienhardt-Roussie A; Lacombe D; Delrue MA
[Ad] Address:Service de génétique médicale, centre hospitalier universitaire d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand, France. Electronic address: flaffargue@chu-clermontferrand.fr.
[Ti] Title:Signes cliniques évocateurs d'un syndrome de Marfan chez l'enfant de moins de 10ans. [Clinical signs of Marfan syndrome in children under 10 years of age].
[So] Source:Arch Pediatr;20(11):1193-200, 2013 Nov.
[Is] ISSN:1769-664X
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:Diagnosing Marfan syndrome in young children is difficult because of the great variability of expression of the disease and because the phenotype evolves over the life course. The goal of this retrospective study was to describe the first clinical symptoms in children under 10 years of age with Marfan syndrome and to evaluate the pertinence of the new 2010 Ghent criteria in comparison with the 1996 criteria. Seventeen patients under 10 by the time of the first medical examination were included. All children had an FBN1 gene mutation that was secondarily demonstrated. Clinical data including ophthalmological, cardiac, and orthopaedic examinations obtained during the first medical examination were analyzed. The most frequent abnormalities encountered were high arched palate (82%), arachnodactyly (71%), and flatfoot (59%). Aortic aneurysm (47%) and ectopic lens (35%) were also seen at the time of diagnosis. According to the 2010 Ghent criteria, the diagnosis of Marfan syndrome could be obtained in 71% of patients after identification of the mutation of the FBN1 gene, whereas only 59% of patients were diagnosed using the older criteria. All organs can be affected during childhood. An early diagnosis is essential in order to set up specific management.
[Mh] MeSH terms primary: Marfan Syndrome/diagnosis
[Mh] MeSH terms secundary: Aortic Aneurysm/etiology
Arachnodactyly/etiology
Child
Child, Preschool
Ectopia Lentis/etiology
Facies
Female
Flatfoot/etiology
Funnel Chest/etiology
Humans
Infant
Joint Instability/etiology
Male
Marfan Syndrome/genetics
Microfilament Proteins/genetics
Mutation
Palate/abnormalities
Retrospective Studies
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Name of substance:0 (Microfilament Proteins); 0 (fibrillin)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131101
[St] Status:MEDLINE

  8 / 5253 MEDLINE  
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[PMID]: 24403048
[Au] Autor:Kaiser FJ; Ansari M; Braunholz D; Concepción Gil-Rodríguez M; Decroos C; Wilde JJ; Fincher CT; Kaur M; Bando M; Amor DJ; Atwal PS; Bahlo M; Bowman CM; Bradley JJ; Brunner HG; Clark D; Del Campo M; Di Donato N; Diakumis P; Dubbs H; Dyment DA; Eckhold J; Ernst S; Ferreira JC; Francey LJ; Gehlken U; Guillén-Navarro E; Gyftodimou Y; Hall BD; Hennekam R; Hudgins L; Hullings M; Hunter JM; Yntema H; Innes AM; Kline AD; Krumina Z; Lee H; Leppig K; Lynch SA; Mallozzi MB; Mannini L; McKee S; Mehta SG; Micule I; Mohammed S; Moran E; Mortier GR; Moser JA; Noon SE; Care4Rare Canada Consortium; University of Washington Center for Mendelian Genomics
[Ad] Address:Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.
[Ti] Title:Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
[So] Source:Hum Mol Genet;23(11):2888-900, 2014 Jun 1.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1405
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1093/hmg/ddu002

  9 / 5253 MEDLINE  
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[PMID]: 23906836
[Au] Autor:Wieczorek D; Bögershausen N; Beleggia F; Steiner-Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein-Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; Dotti MT; Elcioglu N; Gener B; Goecke TO; Krajewska-Walasek M; Guillén-Navarro E; Hayek J; Houge G; Kilic E; Simsek-Kiper PÖ; López-González V; Kuechler A; Lyonnet S; Mari F; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice-Picard F; Ozkinay F; Rauch A; Renieri A; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C
[Ad] Address:Institut für Humangenetik and.
[Ti] Title:A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
[So] Source:Hum Mol Genet;22(25):5121-35, 2013 Dec 20.
[Is] ISSN:1460-2083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies.
[Mh] MeSH terms primary: Abnormalities, Multiple/genetics
Chromatin Assembly and Disassembly/genetics
Face/abnormalities
Foot Deformities, Congenital/genetics
Hand Deformities, Congenital/genetics
Hypotrichosis/genetics
Intellectual Disability/genetics
Micrognathism/genetics
Neck/abnormalities
Sequence Deletion/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/pathology
Adolescent
Adult
Carrier Proteins/genetics
Child
Child, Preschool
Chromosomal Proteins, Non-Histone/genetics
DNA-Binding Proteins/genetics
Exome/genetics
Face/pathology
Facies
Female
Foot Deformities, Congenital/pathology
Hand Deformities, Congenital/pathology
High-Throughput Nucleotide Sequencing
Humans
Hypotrichosis/pathology
Infant
Infant, Newborn
Intellectual Disability/pathology
Karyotyping
Male
Micrognathism/pathology
Mutation, Missense
Neck/pathology
Transcription Factors/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (ARID1B protein, human); 0 (Carrier Proteins); 0 (Chromosomal Proteins, Non-Histone); 0 (DNA-Binding Proteins); 0 (PHF6 protein, human); 0 (SMARCB1 protein, human); 0 (Transcription Factors)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131128
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddt366

  10 / 5253 MEDLINE  
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[PMID]: 24165362
[Au] Autor:Godbee K; Porter M
[Ad] Address:Department of Psychology, Macquarie University, Sydney, NSW, Australia.
[Ti] Title:Comprehension of sarcasm, metaphor and simile in Williams syndrome.
[So] Source:Int J Lang Commun Disord;48(6):651-65, 2013 Nov-Dec.
[Is] ISSN:1460-6984
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Although people with Williams syndrome (WS) are often characterized as friendly and sociable with relatively good general language abilities, there is emerging evidence of pragmatic difficulties and trouble comprehending aspects of non-literal language. AIMS: The main aim was to investigate the comprehension of sarcasm, metaphor and simile in WS relative to typically developing controls. A secondary aim was to examine the association between non-literal language comprehension and a range of other cognitive abilities, both in WS and in the typically developing population. METHODS & PROCEDURES: Twenty-six participants with WS were compared with 26 typically developing chronological age-matched controls (TDCA) and 26 typically developing mental age-matched controls (TDMA). Participants listened to stories in which characters made non-literal comments. They were then asked what each character meant by their comment. In order to investigate the second aim of the study, cognitive abilities were also assessed using the Woodcock-Johnson (Revised) Tests of Cognitive Ability, including expressive vocabulary, verbal working memory, perceptual integration, inferential reasoning and overall cognitive ability. OUTCOMES & RESULTS: Comprehension of non-literal language in WS was significantly below TDCA levels, but was not significantly different to TDMA levels. For typically developing controls, each of the cognitive measures was strongly correlated with each of the measures of non-literal language comprehension. The same relationships were not always found for participants with WS. In particular, sarcasm comprehension in WS was not significantly correlated with any of the assessed cognitive abilities, and expressive vocabulary was not significantly correlated with any measure of non-literal comprehension. CONCLUSIONS & IMPLICATIONS: Comprehension of simile in WS is below TDCA levels but seems on par with their mental age level. It appears that comprehension of sarcasm and metaphors is above the cognitive capabilities and mental age level of most individuals with WS. Further, the pattern of correlations between non-literal comprehension and cognitive abilities in WS relative to controls suggests that perhaps the linguistic and cognitive systems that underpin non-literal language comprehension in typically developing individuals interact and integrate in different ways in WS.
[Mh] MeSH terms primary: Cognition
Comprehension
Language Development
Metaphor
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adult
Child
Child, Preschool
Female
Humans
Infant
Intelligence
Male
Speech Perception
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131029
[St] Status:MEDLINE
[do] DOI:10.1111/1460-6984.12037


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