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  1. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  2. [Williams-Beuren syndrome (Williams syndrome). Case report].

    Science.gov (United States)

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  3. Congenital heart defects in Williams syndrome.

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    Yuan, Shi-Min

    2017-01-01

    Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

  4. A human neurodevelopmental model for Williams syndrome.

    Science.gov (United States)

    Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C; Hrvoj-Mihic, Branka; Herai, Roberto H; Yu, Diana X; Brown, Timothy T; Marchetto, Maria C; Bardy, Cedric; McHenry, Lauren; Stefanacci, Lisa; Järvinen, Anna; Searcy, Yvonne M; DeWitt, Michelle; Wong, Wenny; Lai, Philip; Ard, M Colin; Hanson, Kari L; Romero, Sarah; Jacobs, Bob; Dale, Anders M; Dai, Li; Korenberg, Julie R; Gage, Fred H; Bellugi, Ursula; Halgren, Eric; Semendeferi, Katerina; Muotri, Alysson R

    2016-08-18

    Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.

  5. The use of emotions in narratives in Williams syndrome.

    Science.gov (United States)

    Van Herwegen, Jo; Aznar, Ana; Tenenbaum, Harriet

    2014-01-01

    Although individuals with Williams syndrome are very sociable, they tend to have limited contact and friendships with peers. In typically developing children the use of positive emotions (e.g., happy) has been argued to be related to peer relationships and popularity. The current study investigated the use and development of emotion words in Williams syndrome using cross-sectional developmental trajectories and examined children's use of different types of emotion words. Nineteen children with Williams syndrome (WS) and 20 typically developing (TD) children matched for chronological age told a story from a wordless picture book. Participants with WS produced a similar number of emotion words compared to the control group and the use of emotion words did not change when plotted against chronological age or vocabulary abilities in either group. However, participants with WS produced more emotion words about sadness. Links between emotion production and friendships as well as future studies are discussed. After reading this article, readers will be able to: explain the development of positive and negative emotions in Williams syndrome and recognize that emotion production is atypical in this population. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Williams-Beuren's Syndrome: A Case Report.

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    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  7. Williams-Beuren's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  8. Handedness and corpus callosal morphology in Williams syndrome.

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    Martens, Marilee A; Wilson, Sarah J; Chen, Jian; Wood, Amanda G; Reutens, David C

    2013-02-01

    Williams syndrome is a neurodevelopmental genetic disorder caused by a hemizygous deletion on chromosome 7q11.23, resulting in atypical brain structure and function, including abnormal morphology of the corpus callosum. An influence of handedness on the size of the corpus callosum has been observed in studies of typical individuals, but handedness has not been taken into account in studies of callosal morphology in Williams syndrome. We hypothesized that callosal area is smaller and the size of the splenium and isthmus is reduced in individuals with Williams syndrome compared to healthy controls, and examined age, sex, and handedness effects on corpus callosal area. Structural magnetic resonance imaging scans were obtained on 25 individuals with Williams syndrome (18 right-handed, 7 left-handed) and 25 matched controls. We found that callosal thickness was significantly reduced in the splenium of Williams syndrome individuals compared to controls. We also found novel evidence that the callosal area was smaller in left-handed participants with Williams syndrome than their right-handed counterparts, with opposite findings observed in the control group. This novel finding may be associated with LIM-kinase hemizygosity, a characteristic of Williams syndrome. The findings may have significant clinical implications in future explorations of the Williams syndrome cognitive phenotype.

  9. Williams Syndrome with a “Twist”

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    Despoina Maritsi

    2010-01-01

    Full Text Available Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT, a benign dystonic disorder of unknown aetiology.

  10. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... Resources (5 links) Disease InfoSearch: Williams syndrome Genetic Science Learning Center, University of Utah MalaCards: williams-beuren ...

  11. Adaptive Functioning in Williams Syndrome: A Systematic Review

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    Brawn, Gabrielle; Porter, Melanie

    2018-01-01

    Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…

  12. A new case of keratoconus associated with Williams-Beuren syndrome.

    Science.gov (United States)

    Viana, Melissa Machado; Frasson, Maria; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila da Silva; de Aguiar, Marcos José Burle

    2013-09-01

    Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

  13. A child of Williams-Beuren syndrome for inguinal hernia repair: Perioperative management concerns

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    Sangeeta Deka

    2016-01-01

    Full Text Available Williams-Beuren syndrome, commonly known as Williams syndrome (WS, is a multi-organ disorder. The principal anomalies of the syndrome are developmental delay, unusual craniofacial dysmorphic features, and cardiovascular anomalies such as valvular or supravalvular aortic stenosis, pulmonary artery stenosis, and coronary insufficiency. Sudden cardiac death during minor procedures even in the absence of gross cardiovascular pathology is the most dreaded complication in these patients. A 7-year-old child with WS was posted for left-sided inguinal hernia repair under general anesthesia. Our article describes the uneventful perioperative course of the patient and highlights the concerns and complications that may be an integral part with the syndrome.

  14. Language and Communicative Development in Williams Syndrome

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    Mervis, Carolyn B.; Becerra, Angela M.

    2007-01-01

    Williams syndrome, a genetic disorder caused by a microdeletion of approximately 25 genes on chromosome 7q11.23, is associated with mild to moderate intellectual disability or learning difficulties. Most individuals with Williams syndrome evidence a cognitive profile including relative strengths in verbal short-term memory and language, and…

  15. Social Cognition in Williams Syndrome: Face Tuning.

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    Pavlova, Marina A; Heiz, Julie; Sokolov, Alexander N; Barisnikov, Koviljka

    2016-01-01

    Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style). The primary advantage of these images is that single components do not explicitly trigger face-specific processing, whereas in face images commonly used for investigating face perception (such as photographs or depictions), the mere occurrence of typical cues already implicates face presence. In a spontaneous recognition task, participants were shown a set of images in a predetermined order from the least to most resembling a face. Strikingly, individuals with Williams syndrome exhibited profound deficits in recognition of the Face-n-Food images as a face: they did not report seeing a face on the images, which typically developing controls effortlessly recognized as a face, and gave overall fewer face responses. This suggests atypical face tuning in Williams syndrome. The outcome is discussed in the light of a general pattern of social cognition in Williams syndrome and brain mechanisms underpinning face processing.

  16. Williams Syndrome and 15q Duplication: Coincidence versus Association.

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    Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

    2017-01-01

    Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

  17. Celiac disease in patients with Williams-Beuren syndrome.

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    Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

    2015-01-01

    Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

  18. Skin findings in Williams syndrome.

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    Kozel, Beth A; Bayliss, Susan J; Berk, David R; Waxler, Jessica L; Knutsen, Russell H; Danback, Joshua R; Pober, Barbara R

    2014-09-01

    Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. © 2014 Wiley Periodicals, Inc.

  19. Mental Health Problems in Adults with Williams Syndrome

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    Stinton, Chris; Elison, Sarah; Howlin, Patricia

    2010-01-01

    Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…

  20. Investigating the ''social brain'' through Williams syndrome

    International Nuclear Information System (INIS)

    Nagamine, Masanori; Mimura, Masaru; Reiss, A.L.; Hoeft, F.

    2010-01-01

    Recent advances in social cognitive neuroscience have led to the concept of the ''social brain''. The social brain includes neural processes specialized for processing social information necessary for the recognition of self and others, and interpersonal relationships. Because of its unique behavioral phenotypic features which includes 'hypersociability', Williams syndrome has gained popularity among social cognitive neuroscientists. Individuals with Williams syndrome share the same genetic risk factor for cognitive-behavioral dysfunction utilizing brain imaging to elucidate endophenotype provides us with an unprecendented opportunity to study gene, brain and behavior relationships especially those related to social cognition. In this review, we provide an overview of neuroimaging studies on social cognition in Williams syndrome and discuss the neural basis of the social brain. (author)

  1. Emotional Responsivity in Young Children with Williams Syndrome

    Science.gov (United States)

    Fidler, Debbie J.; Hepburn, Susan L.; Most, David E.; Philofsky, Amy; Rogers, Sally J.

    2007-01-01

    The hypothesis that young children with Williams syndrome show higher rates of emotional responsivity relative to other children with developmental disabilities was explored. Performance of 23 young children with Williams syndrome and 30 MA-matched children with developmental disabilities of nonspecific etiologies was compared on an adaptation of…

  2. Malformations vasculaires au cours du syndrome de Williams ...

    African Journals Online (AJOL)

    Le syndrome de Williams-Beuren est une maladie génétique rare, il associe classiquement une dysmorphie faciale assez spécifique, des malformations cardiovasculaires et un profil neuropsychologique particulier. Nous rapportons les observations de trois enfants atteints du syndrome de Williams-Beuren en insistant ...

  3. Infantile ictal apneas in a child with williams-beuren syndrome.

    Science.gov (United States)

    Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

    2013-02-01

    Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

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    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  5. Colour discrimination and categorisation in Williams syndrome

    OpenAIRE

    Farran, E. K.; Cranwell, M. B.; Alvarez, J.; Franklin, A.

    2013-01-01

    Individuals with Williams syndrome (WS) present with impaired functioning of the dorsal visual stream relative to the ventral visual stream. As such, little attention has been given to ventral stream functions in WS. We investigated colour processing, a predominantly ventral stream function, for the first time in nineteen individuals with Williams syndrome. Colour discrimination was assessed using the Farnsworth-Munsell 100 hue test. Colour categorisation was assessed using a match-to-sample ...

  6. Global and local music perception in children with Williams syndrome.

    Science.gov (United States)

    Deruelle, Christine; Schön, Daniele; Rondan, Cécilie; Mancini, Josette

    2005-04-25

    Musical processing can be decomposed into the appreciation of global and local elements. This global/local dissociation was investigated with the processing of contour-violated and interval-violated melodies. Performance of a group of 16 children with Williams syndrome and a group of 16 control children were compared in a same-different task. Control participants were more accurate in detecting differences in the contour-violated than in the interval-violated condition while Williams syndrome individuals performed equally well in both conditions. This finding suggests that global precedence may occur at an early perceptual stage in normally developing children. In contrast, no such global precedence is observed in the Williams syndrome population. These data are discussed in the context of atypical cognitive profiles of individuals with Williams syndrome.

  7. Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

    Science.gov (United States)

    Wint, D P; Butman, J A; Masdeu, J C; Meyer-Lindenberg, A; Mervis, C B; Sarpal, D; Morris, C A; Berman, K F

    2014-01-01

    Williams syndrome, a rare genetic disorder with a striking neurobehavioral profile characterized by extreme sociability and impaired visuospatial construction abilities, is caused by a hemideletion that includes the elastin gene, resulting in frequent supravavular aortic stenosis and other stenotic arterial lesions. Strokes have been reported in Williams syndrome. Although the extracranial carotid artery has been studied in a sample of patients with Williams syndrome, proximal intracranial arteries have not. Using MRA, we studied the intracranial vessels in 27 participants: 14 patients with Williams syndrome (age range, 18-44 years; mean age, 27.3 ± 9.1; 43% women) and 13 healthy control participants with similar age and sex distribution (age range, 22-52 years; mean age, 33.4 ± 7.6; 46% women). All participants with Williams syndrome had hemideletions of the elastin gene. Blinded to group allocation or to any other clinical data, a neuroradiologist determined the presence of intracranial vascular changes in the 2 groups. The Williams syndrome group and the healthy control group had similar patency of the proximal intracranial arteries, including the internal carotid and vertebral arteries; basilar artery; and stem and proximal branches of the anterior cerebral artery, MCA, and posterior cerebral arteries. The postcommunicating segment of the anterior cerebral artery was longer in the Williams syndrome group. Despite the elastin haploinsufficiency, the proximal intracranial arteries in Williams syndrome preserve normal patency.

  8. White matter integrity deficits in prefrontal-amygdala pathways in Williams syndrome.

    Science.gov (United States)

    Avery, Suzanne N; Thornton-Wells, Tricia A; Anderson, Adam W; Blackford, Jennifer Urbano

    2012-01-16

    Williams syndrome is a neurodevelopmental disorder associated with significant non-social fears. Consistent with this elevated non-social fear, individuals with Williams syndrome have an abnormally elevated amygdala response when viewing threatening non-social stimuli. In typically-developing individuals, amygdala activity is inhibited through dense, reciprocal white matter connections with the prefrontal cortex. Neuroimaging studies suggest a functional uncoupling of normal prefrontal-amygdala inhibition in individuals with Williams syndrome, which might underlie both the extreme amygdala activity and non-social fears. This functional uncoupling might be caused by structural deficits in underlying white matter pathways; however, prefrontal-amygdala white matter deficits have yet to be explored in Williams syndrome. We used diffusion tensor imaging to investigate prefrontal-amygdala white matter integrity differences in individuals with Williams syndrome and typically-developing controls with high levels of non-social fear. White matter pathways between the amygdala and several prefrontal regions were isolated using probabilistic tractography. Within each pathway, we tested for between-group differences in three measures of white matter integrity: fractional anisotropy (FA), radial diffusivity (RD), and parallel diffusivity (λ(1)). Individuals with Williams syndrome had lower FA, compared to controls, in several of the prefrontal-amygdala pathways investigated, indicating a reduction in white matter integrity. Lower FA in Williams syndrome was explained by significantly higher RD, with no differences in λ(1), suggestive of lower fiber density or axon myelination in prefrontal-amygdala pathways. These results suggest that deficits in the structural integrity of prefrontal-amygdala white matter pathways might underlie the increased amygdala activity and extreme non-social fears observed in Williams syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. [Association between Williams syndrome and adrenal insufficiency].

    Science.gov (United States)

    Rchachi, Meryem; Larwanou, Maazou Mahamane; El Ouahabi, Hanan; Ajdi, Farida

    2017-01-01

    Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring.

  10. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  11. Discovering Structure in Auditory Input: Evidence from Williams Syndrome

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    Elsabbagh, Mayada; Cohen, Henri; Karmiloff-Smith, Annette

    2010-01-01

    We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed…

  12. Increased overall cortical connectivity with syndrome specific local decreases suggested by atypical sleep-EEG synchronization in Williams syndrome.

    Science.gov (United States)

    Gombos, Ferenc; Bódizs, Róbert; Kovács, Ilona

    2017-07-21

    Williams syndrome (7q11.23 microdeletion) is characterized by specific alterations in neurocognitive architecture and functioning, as well as disordered sleep. Here we analyze the region, sleep state and frequency-specific EEG synchronization of whole night sleep recordings of 21 Williams syndrome and 21 typically developing age- and gender-matched subjects by calculating weighted phase lag indexes. We found broadband increases in inter- and intrahemispheric neural connectivity for both NREM and REM sleep EEG of Williams syndrome subjects. These effects consisted of increased theta, high sigma, and beta/low gamma synchronization, whereas alpha synchronization was characterized by a peculiar Williams syndrome-specific decrease during NREM states (intra- and interhemispheric centro-temporal) and REM phases of sleep (occipital intra-area synchronization). We also found a decrease in short range, occipital connectivity of NREM sleep EEG theta activity. The striking increased overall synchronization of sleep EEG in Williams syndrome subjects is consistent with the recently reported increase in synaptic and dendritic density in stem-cell based Williams syndrome models, whereas decreased alpha and occipital connectivity might reflect and underpin the altered microarchitecture of primary visual cortex and disordered visuospatial functioning of Williams syndrome subjects.

  13. Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome.

    Science.gov (United States)

    Fung, Lawrence K; Quintin, Eve-Marie; Haas, Brian W; Reiss, Allan L

    2012-04-01

    The overarching goal of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features. Information is presented in a framework that provides guiding principles for conceptualizing gene-brain-behavior associations in neurodevelopmental disorders. Abnormalities, in particular cognitive-behavioral domains with similarities in underlying neurodevelopmental correlates, occur in both FraX and Williams syndrome including aberrant frontostriatal pathways leading to executive function deficits, and magnocellular/dorsal visual stream, superior parietal lobe, inferior parietal lobe, and postcentral gyrus abnormalities contributing to deficits in visuospatial function. Compelling cognitive-behavioral and neurodevelopmental contrasts also exist in these two disorders, for example, aberrant amygdala and fusiform cortex structure and function occurring in the context of contrasting social behavioral phenotypes, and temporal cortical and cerebellar abnormalities potentially underlying differences in language function. Abnormal dendritic development is a shared neurodevelopmental morphologic feature between FraX and Williams syndrome. Commonalities in molecular machinery and processes across FraX and Williams syndrome occur as well - microRNAs involved in translational regulation of major synaptic proteins; scaffolding proteins in excitatory synapses; and proteins involved in axonal development. Although the genetic variations leading to FraX and Williams syndrome are different, important similarities and contrasts in the phenotype, neurocircuitry, molecular machinery, and cellular processes in these two disorders allow for a unique approach to conceptualizing gene-brain-behavior links occurring in neurodevelopmental disorders.

  14. Probed Serial Recall in Williams Syndrome: Lexical Influences on Phonological Short-Term Memory

    Science.gov (United States)

    Brock, Jan; McCormack, Teresa; Boucher, Jill

    2005-01-01

    Williams syndrome is a genetic disorder that, it has been claimed, results in an unusual pattern of linguistic strengths and weaknesses. The current study investigated the hypothesis that there is a reduced influence of lexical knowledge on phonological short-term memory in Williams syndrome. Fourteen children with Williams syndrome and 2…

  15. Using novel control groups to dissect the amygdala's role in Williams syndrome.

    Science.gov (United States)

    Thornton-Wells, Tricia A; Avery, Suzanne N; Blackford, Jennifer Urbano

    2011-07-01

    Williams syndrome is a neurodevelopmental disorder with an intriguing behavioral phenotype-hypersociability combined with significant non-social fears. Previous studies have demonstrated abnormalities in amygdala function in individuals with Williams syndrome compared to typically-developing controls. However, it remains unclear whether the findings are related to the atypical neurodevelopment of Williams syndrome, or are also associated with behavioral traits at the extreme end of a normal continuum. We used functional magnetic resonance imaging (fMRI) to compare amygdala blood-oxygenation-level-dependent (BOLD) responses to non-social and social images in individuals with Williams syndrome compared to either individuals with inhibited temperament (high non-social fear) or individuals with uninhibited temperament (high sociability). Individuals with Williams syndrome had larger amygdala BOLD responses when viewing the non-social fear images than the inhibited temperament control group. In contrast, when viewing both fear and neutral social images, individuals with Williams syndrome did not show smaller amygdala BOLD responses relative to the uninhibited temperament control group, but instead had amygdala responses proportionate to their sociability. These results suggest heightened amygdala response to non-social fear images is characteristic of WS, whereas, variability in amygdala response to social fear images is proportionate to, and might be explained by, levels of trait sociability.

  16. Anxiety and Repetitive Behaviours in Autism Spectrum Disorders and Williams Syndrome: A Cross-Syndrome Comparison

    Science.gov (United States)

    Rodgers, Jacqui; Riby, Deborah M.; Janes, Emily; Connolly, Brenda; McConachie, Helen

    2012-01-01

    Children with Autism Spectrum Disorder or Williams syndrome are vulnerable to anxiety. The factors that contribute to this risk remain unclear. This study compared anxiety in autism spectrum disorder and Williams Syndrome and examined the relationship between repetitive behaviours and anxiety. Thirty-four children with autism and twenty children…

  17. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    International Nuclear Information System (INIS)

    Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan

    1988-01-01

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

  18. Coronary ostium occlusion by coronary cusp displacement in Williams syndrome.

    Science.gov (United States)

    Shiohama, Tadashi; Fujii, Katsunori; Ebata, Ryota; Funabashi, Nobusada; Matsumiya, Goro; Saito, Yuko Kazato; Takechi, Fumie; Yonemori, Yoko; Nakatani, Yukio; Shimojo, Naoki

    2016-06-01

    Williams syndrome is a contiguous gene deletion syndrome resulting from a heterozygous deletion on chromosome 7q11.23, and is characterized by distinctive facial features and supravalvular aortic stenosis (SVAS). This syndrome rarely presents unpredictable cardiac death, and yet, as illustrated in the present case, it is still not possible to predict it, even on close monitoring. We herein describe the case of a 6-year-old Japanese girl with Williams syndrome, who had sudden cardiac collapse due to cardiac infarction after pharyngitis. Cardiac failure followed a critical course that did not respond to catecholamine support or heart rest with extracardiac mechanical support. Although marked coronary stenosis was not present, the left coronary cusp abnormally adhered to the aortic wall, which may synergistically cause coronary ostium occlusion with SVAS. Altered hemodynamic state, even that caused by the common cold, may lead to critical myocardial events in Williams syndrome with SVAS. © 2015 Japan Pediatric Society.

  19. Learning by observation: insights from Williams syndrome.

    Science.gov (United States)

    Foti, Francesca; Menghini, Deny; Mandolesi, Laura; Federico, Francesca; Vicari, Stefano; Petrosini, Laura

    2013-01-01

    Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Observational learning makes an interesting and potentially important topic in the developmental domain, especially when disorders are considered. The implications of studies aimed at clarifying whether and how this form of learning is spared by pathology are manifold. We focused on a specific population with learning and intellectual disabilities, the individuals with Williams syndrome. The performance of twenty-eight individuals with Williams syndrome was compared with that of mental age- and gender-matched thirty-two typically developing children on tasks of learning of a visuo-motor sequence by observation or by trial and error. Regardless of the learning modality, acquiring the correct sequence involved three main phases: a detection phase, in which participants discovered the correct sequence and learned how to perform the task; an exercise phase, in which they reproduced the sequence until performance was error-free; an automatization phase, in which by repeating the error-free sequence they became accurate and speedy. Participants with Williams syndrome beneficiated of observational training (in which they observed an actor detecting the visuo-motor sequence) in the detection phase, while they performed worse than typically developing children in the exercise and automatization phases. Thus, by exploiting competencies learned by observation, individuals with Williams syndrome detected the visuo-motor sequence, putting into action the appropriate procedural strategies. Conversely, their impaired performances in the exercise phases appeared linked to impaired spatial working memory, while their deficits in automatization phases to deficits in processes increasing efficiency and speed of the response. Overall, observational experience was advantageous for acquiring competencies

  20. Learning by observation: insights from Williams syndrome.

    Directory of Open Access Journals (Sweden)

    Francesca Foti

    Full Text Available Observing another person performing a complex action accelerates the observer's acquisition of the same action and limits the time-consuming process of learning by trial and error. Observational learning makes an interesting and potentially important topic in the developmental domain, especially when disorders are considered. The implications of studies aimed at clarifying whether and how this form of learning is spared by pathology are manifold. We focused on a specific population with learning and intellectual disabilities, the individuals with Williams syndrome. The performance of twenty-eight individuals with Williams syndrome was compared with that of mental age- and gender-matched thirty-two typically developing children on tasks of learning of a visuo-motor sequence by observation or by trial and error. Regardless of the learning modality, acquiring the correct sequence involved three main phases: a detection phase, in which participants discovered the correct sequence and learned how to perform the task; an exercise phase, in which they reproduced the sequence until performance was error-free; an automatization phase, in which by repeating the error-free sequence they became accurate and speedy. Participants with Williams syndrome beneficiated of observational training (in which they observed an actor detecting the visuo-motor sequence in the detection phase, while they performed worse than typically developing children in the exercise and automatization phases. Thus, by exploiting competencies learned by observation, individuals with Williams syndrome detected the visuo-motor sequence, putting into action the appropriate procedural strategies. Conversely, their impaired performances in the exercise phases appeared linked to impaired spatial working memory, while their deficits in automatization phases to deficits in processes increasing efficiency and speed of the response. Overall, observational experience was advantageous for

  1. Notas no percurso: linguagem musical e Síndrome de Williams/Notes on the way: musical language and Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Paulo Sérgio Souza Junior

    2009-12-01

    Full Text Available O presente artigo versa sobre uma síndrome em particular chamada Síndrome de Williams-Beuren. Esta síndrome possui uma relação específica com a música, relação esta que estará no fulcro de nossas preocupações durante as páginas que se seguem. Num primeiro momento faremos uma apresentação da síndrome e de suas singularidades; em seguida nos debruçaremos sobre a especificidade que aqui está em questão, ou seja, a relação da síndrome com o universo sonoro; por fim, traremos um caso com o qual tivemos contato envolvendo a educação musical em contexto da síndrome, e discutiremos a respeito dos elementos que esse contato nos trouxe para pensar essa curiosa e relevante relação entre arte-educação e o desenvolvimento neuropsicológico atípico. The present article is about a particular syndrome, called Williams-Beuren. This syndrome has a very specific relationship with music, which will be at the heart of our concerns over the following pages. Initially we will make a presentation of the syndrome and its singularities. Then we will focus on the uniqueness of the correlation between Williams-Beuren and the musical world. Finally, we will discuss a case which involves musical education in the context of this syndrome, and discuss about the elements, brought by that contact, that are useful to think about this curious and relevant relationship between art education and atypical neuropsychological development.

  2. Music and Anxiety in Williams Syndrome: A Harmonious or Discordant Relationship?

    Science.gov (United States)

    Dykens, Elisabeth M.; Rosner, Beth A.; Ly, Tran; Sagun, Jaclyn

    2005-01-01

    In this two-part study, we assessed musical involvements in two samples of persons with Williams syndrome compared to others with mental retardation and also related musicality to anxiety and fears in Study 2. Relative to others with mental retardation, those with Williams syndrome were more likely to take music lessons, play an instrument, and…

  3. Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline

    2007-02-01

    Previous studies have suggested that Williams syndrome and Down syndrome may be associated with specific short-term memory deficits. Individuals with Williams syndrome perform relatively poorly on tests of visuo-spatial short-term memory and individuals with Down syndrome show a relative deficit on verbal short-term memory tasks. However, these patterns of impairments may reflect the impact of generally impaired visuo-spatial processing skills in Williams syndrome, and verbal abilities in Down syndrome. The current study explored this possibility by assessing long-term memory among 15 individuals with Williams syndrome and 20 individuals with Down syndrome using the Doors and People test, a battery which assesses recall and recognition of verbal and visual information. Individuals' performance was standardised for age and level of intellectual ability with reference to that shown by a sample of 110 typically developing children. The results showed that individuals with Down syndrome have no differential deficits in long-term memory for verbal information, implying that verbal short-term memory deficits in this population are relatively selective. Instead both individuals with Down syndrome and with Williams syndrome showed some evidence of relatively poor performance on tests of long-term memory for visual information. It is therefore possible that visuo-spatial short-term memory deficits that have previously been demonstrated in Williams syndrome may be secondary to more general problems in visuo-spatial processing in this population.

  4. [Vascular malformations in the Williams-Beuren syndrome: report of three new cases].

    Science.gov (United States)

    Sator, Hicham; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Dafiri, Rachida; Chat, Latifa

    2016-01-01

    The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.

  5. Ischemic Stroke in Williams-Beuren Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Wei-Der Lee

    2009-04-01

    Full Text Available A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

  6. Experiences of Bullying for Individuals with Williams Syndrome

    Science.gov (United States)

    Fisher, Marisa H.; Lough, Emma; Griffin, Megan M.; Lane, Laurel A.

    2017-01-01

    Background: Individuals with intellectual disability experience high rates of bullying, but it is not known how people with specific syndromes, such as Williams syndrome (WS), experience and respond to bullying. Given their behavioral profile, including hypersociability and heightened anxiety, and their risk for experiencing other forms of…

  7. Stranger Danger Awareness in Williams Syndrome

    Science.gov (United States)

    Riby, D. M.; Kirk, H.; Hanley, M.; Riby, L. M.

    2014-01-01

    Background: The developmental disorder Williams syndrome (WS) is characterised by a distinctive cognitive profile and an intriguing social phenotype. Individuals with the disorder are often highly social engaging with familiar and unfamiliar people and once in an interaction they often show subtle abnormalities of social behaviour. Atypically…

  8. N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.

    Science.gov (United States)

    Pineiro, Mildred Lopez; Roberts, Antoinette M; Waxler, Jessica L; Mullett, Jennifer E; Pober, Barbara R; McDougle, Christopher J

    2014-11-01

    Williams syndrome is a relatively rare genetic disorder caused by the hemizygous microdeletion of a region in chromosome 7q11.23. Individuals with Williams syndrome typically present with a highly social, overfriendly, and empathic personality. Comorbid medical and neuropsychiatric disorders are common. Reports of effective pharmacological treatment of associated neuropsychiatric disorders are limited. The authors describe the successful treatment of interfering anger, aggression, and hair-pulling with N-acetylcysteine in a 19-year-old woman with Williams syndrome. The neuropsychiatric symptoms emerged 1 week following an upper gastrointestinal endoscopy, for which fentanyl, midazolam, and propofol were used as anesthetics. The patient's treatment course and hypothesized mechanisms underlying the clinical presentation and symptom resolution are described. © The Author(s) 2014.

  9. Electrophysiological Correlates of Semantic Processing in Williams Syndrome

    Science.gov (United States)

    Pinheiro, Ana P.; Galdo-Alvarez, Santaigo; Sampaio, Adriana; Niznikiewicz, Margaret; Goncalves, Oscar F.

    2010-01-01

    Williams syndrome (WS), a genetic neurodevelopmental disorder due to microdeletion in chromosome 7, has been described as a syndrome with an intriguing socio-cognitive phenotype. Cognitively, the relative preservation of language and face processing abilities coexists with severe deficits in visual-spatial tasks, as well as in tasks involving…

  10. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  11. Genes, language, and the nature of scientific explanations: the case of Williams syndrome.

    Science.gov (United States)

    Musolino, Julien; Landau, Barbara

    2012-01-01

    In this article, we discuss two experiments of nature and their implications for the sciences of the mind. The first, Williams syndrome, bears on one of cognitive science's holy grails: the possibility of unravelling the causal chain between genes and cognition. We sketch the outline of a general framework to study the relationship between genes and cognition, focusing as our case study on the development of language in individuals with Williams syndrome. Our approach emphasizes the role of three key ingredients: the need to specify a clear level of analysis, the need to provide a theoretical account of the relevant cognitive structure at that level, and the importance of the (typical) developmental process itself. The promise offered by the case of Williams syndrome has also given rise to two strongly conflicting theoretical approaches-modularity and neuroconstructivism-themselves offshoots of a perennial debate between nativism and empiricism. We apply our framework to explore the tension created by these two conflicting perspectives. To this end, we discuss a second experiment of nature, which allows us to compare the two competing perspectives in what comes close to a controlled experimental setting. From this comparison, we conclude that the "meaningful debate assumption", a widespread assumption suggesting that neuroconstructivism and modularity address the same questions and represent genuine theoretical alternatives, rests on a fallacy.

  12. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

    Science.gov (United States)

    Abidi, Kamel; Jellouli, Manel; Ben Rabeh, Rania; Hammi, Yousra; Gargah, Tahar

    2015-01-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

  13. Language and Literacy Development of Children with Williams Syndrome

    Science.gov (United States)

    Mervis, Carolyn B.

    2009-01-01

    Williams syndrome is a rare neurodevelopmental disorder caused by deletion of approximately 25 genes on chromosome 7q11.23. Children with the syndrome evidence large individual differences in both broad language and reading abilities. Nevertheless, as a group, children with this syndrome show a consistent pattern characterized by relative…

  14. Fading-Figure Tracing in Williams Syndrome

    Science.gov (United States)

    Nagai, Chiyoko; Inui, Toshio; Iwata, Makoto

    2011-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder characterized by severe impairment of visuospatial abilities. Figure-drawing abilities, which are thought to reflect visuospatial abilities, have yet to be fully investigated in WS. The purpose of the present study was to clarify whether drawing abilities differ between WS individuals and…

  15. MRI Amygdala Volume in Williams Syndrome

    Science.gov (United States)

    Capitao, Liliana; Sampaio, Adriana; Sampaio, Cassandra; Vasconcelos, Cristiana; Fernandez, Montse; Garayzabal, Elena; Shenton, Martha E.; Goncalves, Oscar F.

    2011-01-01

    One of the most intriguing characteristics of Williams Syndrome individuals is their hypersociability. The amygdala has been consistently implicated in the etiology of this social profile, particularly given its role in emotional and social behavior. This study examined amygdala volume and symmetry in WS individuals and in age and sex matched…

  16. Attention to Faces in Williams Syndrome

    Science.gov (United States)

    Riby, Deborah M.; Jones, Nicola; Brown, Philippa H.; Robinson, Lucy J.; Langton, Stephen R. H.; Bruce, Vicki; Riby, Leigh M.

    2011-01-01

    Williams syndrome (WS) is associated with distinct social behaviours. One component of the WS social phenotype is atypically prolonged face fixation. This behaviour co-exists with attention difficulties. Attention is multi-faceted and may impact on gaze behaviour in several ways. Four experiments assessed (i) attention capture by faces, (ii)…

  17. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  18. Auditory Attraction: Activation of Visual Cortex by Music and Sound in Williams Syndrome

    Science.gov (United States)

    Thornton-Wells, Tricia A.; Cannistraci, Christopher J.; Anderson, Adam W.; Kim, Chai-Youn; Eapen, Mariam; Gore, John C.; Blake, Randolph; Dykens, Elisabeth M.

    2010-01-01

    Williams syndrome is a genetic neurodevelopmental disorder with a distinctive phenotype, including cognitive-linguistic features, nonsocial anxiety, and a strong attraction to music. We performed functional MRI studies examining brain responses to musical and other types of auditory stimuli in young adults with Williams syndrome and typically…

  19. Sleep-EEG in dizygotic twins discordant for Williams syndrome.

    Science.gov (United States)

    Bódizs, Róbert; Gombos, Ferenc; Szocs, Katalin; Réthelyi, János M; Gerván, Patrícia; Kovács, Ilona

    2014-01-30

    Reports on twin pairs concordant and discordant for Williams syndrome were published before, but no study unravelled sleep physiology in these cases yet. We aim to fill this gap by analyzing sleep records of a twin pair discordant for Williams syndrome extending our focus on presleep wakefulness and sleep spindling. We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. Polysomnography of laboratory sleep at this age was analyzed and followed-up after 1.5 years by ambulatory polysomnography. Sleep stages scoring, EEG power spectra and sleep spindle analyses were carried out. The twin brother showed reduced levels of amplification for all of the probes in the 7q11.23 region indicating a typical deletion spanning at least 1.038 Mb between FKBP6 and CLIP2. The results of the twin sister showed normal copy numbers in the investigated region. Lower sleep times and efficiencies, as well as higher slow wave sleep percents of the twin brother were evident during both recordings. Roughly equal NREM, Stage 2 and REM sleep percents were found. EEG analyses revealed state and derivation-independent decreases in alpha power, lack of an alpha spectral peak in presleep wakefulness, as well as higher NREM sleep sigma peak frequency in the twin brother. Faster sleep spindles with lower amplitude and shorter duration characterized the records of the twin brother. Spectra show a striking reliability and correspondence between the two situations (laboratory vs. home records). Alterations in sleep and specific neural oscillations including the alpha/sigma waves are inherent aspects of Williams syndrome.

  20. Attentional Disengagement in Adults with Williams Syndrome

    Science.gov (United States)

    Lense, Miriam D.; Key, Alexandra P.; Dykens, Elisabeth M.

    2011-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder characterized by a distinctive behavioral and cognitive profile, including widespread problems with attention. However, the specific nature of their attentional difficulties, such as inappropriate attentional allocation and/or poor attentional disengagement abilities, has yet to be…

  1. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan [College of Medicine, Yeungam University, Daegu (Korea, Republic of)

    1988-06-15

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures.

  2. Characterisation of Sleep Problems in Children with Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Hill, Catherine M.; Ashworth, Anna; Holley, Simone; Karmiloff-Smith, Annette

    2011-01-01

    Sleep is critical to optimal daytime functioning, learning and general health. In children with established developmental disorders sleep difficulties may compound existing learning difficulties. The purpose of the present study was to evaluate the prevalence and syndrome specificity of sleep problems in Williams syndrome (WS), a…

  3. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

    Science.gov (United States)

    Vandeweyer, Geert; Van der Aa, Nathalie; Reyniers, Edwin; Kooy, R Frank

    2012-06-08

    Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. Colour discrimination and categorisation in Williams syndrome.

    Science.gov (United States)

    Farran, Emily K; Cranwell, Matthew B; Alvarez, James; Franklin, Anna

    2013-10-01

    Individuals with Williams syndrome (WS) present with impaired functioning of the dorsal visual stream relative to the ventral visual stream. As such, little attention has been given to ventral stream functions in WS. We investigated colour processing, a predominantly ventral stream function, for the first time in nineteen individuals with Williams syndrome. Colour discrimination was assessed using the Farnsworth-Munsell 100 hue test. Colour categorisation was assessed using a match-to-sample test and a colour naming task. A visual search task was also included as a measure of sensitivity to the size of perceptual colour difference. Results showed that individuals with WS have reduced colour discrimination relative to typically developing participants matched for chronological age; performance was commensurate with a typically developing group matched for non-verbal ability. In contrast, categorisation was typical in WS, although there was some evidence that sensitivity to the size of perceptual colour differences was reduced in this group. Copyright © 2013 Elsevier Ltd. All rights reserved.

  5. Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia.

    Science.gov (United States)

    Crespi, Bernard J; Procyshyn, Tanya L

    2017-08-01

    We describe and evaluate an integrative hypothesis for helping to explain the major neurocognitive features of individuals with Williams syndrome region deletions and duplications. First, we demonstrate how the cognitive differences between Williams syndrome individuals, individuals with duplications of this region, and healthy individuals parallel the differences between individuals subject to effects of increased or decreased oxytocin. Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations. Third, we describe findings relevant to the hypothesis that the GTF2I gene is subject to parent of origin effects whose behavioral expression fits with predictions from the kinship theory of genomic imprinting. Fourth, we describe how Williams syndrome can be considered, in part, as an autistic syndrome of Lorna Wing's 'active-but-odd' autism subtype, in contrast to associations of duplications with both schizophrenia and autism. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    Science.gov (United States)

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  7. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  8. Analysis of Speech Fluency in Williams Syndrome

    Science.gov (United States)

    Rossi, Natalia Freitas; Sampaio, Adriana; Goncalves, Oscar F.; Giacheti, Celia Maria

    2011-01-01

    Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been…

  9. Attribution of Negative Intention in Williams Syndrome

    Science.gov (United States)

    Godbee, Kali; Porter, Melanie A.

    2013-01-01

    People with Williams syndrome (WS) are said to have sociable and extremely trusting personalities, approaching strangers without hesitation. This study investigated whether people with WS are less likely than controls to attribute negative intent to others when interpreting a series of ambiguous pictures. This may, at least partially, explain…

  10. Outcome in Adult Life for People with Williams Syndrome Results from a Survey of 239 Families

    Science.gov (United States)

    Howlin, P.; Udwin, O.

    2006-01-01

    BACKGROUND: Although there has been considerable research into the genotype and phenotype of Williams syndrome, there have been relatively few studies of long-term prognosis. As a preliminary to a more detailed investigation of adults with Williams syndrome, a parental questionnaire was distributed to members of the UK Williams Syndrome…

  11. Williams Syndrome: Daily Challenges and Positive Impact on the Family

    Science.gov (United States)

    Scallan, Susan; Senior, Joyce; Reilly, Colin

    2011-01-01

    Background: Despite the distinctive physical, cognitive, personality and behavioural characteristics associated with Williams syndrome, few studies to date have examined parental experiences of raising a child with this genetic syndrome. Methods: This explorative pilot study employed predominantly qualitative methodologies via face-to-face…

  12. Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.

    Science.gov (United States)

    Yagihashi, Tatsuhiko; Torii, Chiharu; Takahashi, Reiko; Omori, Mikimasa; Kosaki, Rika; Yoshihashi, Hiroshi; Ihara, Masahiro; Minagawa-Kawai, Yasuyo; Yamamoto, Junichi; Takahashi, Takao; Kosaki, Kenjiro

    2014-11-01

    To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age = 0.51 × chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome. © 2014 Japanese Teratology Society.

  13. Brief Report: Developing Spatial Frequency Biases for Face Recognition in Autism and Williams Syndrome

    Science.gov (United States)

    Leonard, Hayley C.; Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.

    2011-01-01

    The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time. Typically-developing children and groups with Williams syndrome and autism were asked to recognise faces in which low, middle and high spatial frequency…

  14. Fears, Hyperacusis and Musicality in Williams Syndrome

    Science.gov (United States)

    Blomberg, Stefan; Rosander, Michael; Andersson, Gerhard

    2006-01-01

    The study investigated the prevalence of fear and hyperacusis and the possible connections between fear, hyperacusis and musicality in a Swedish sample of individuals with Williams syndrome (WS). The study included 38 individuals and a cross-sectional design, with no matched control group. Two persons, who knew the participant well, completed a…

  15. Executive Functions in Individuals with Williams Syndrome

    Science.gov (United States)

    Menghini, D.; Addona, F.; Costanzo, F.; Vicari, S.

    2010-01-01

    Background: The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. Method: In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning,…

  16. A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

    Science.gov (United States)

    Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

    2017-03-01

    Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

  17. Psycholinguistic Abilities of Children with Williams Syndrome

    Science.gov (United States)

    Rossi, Natalia F.; Heinze, Elena Garayzabal; Giacheti, Celia M.; Goncalves, Oscar F.; Sampaio, Adriana

    2012-01-01

    The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N=20, mean age=8.5 years, SD=1.62) and two typically developing groups,…

  18. Williams syndrome and mature B-Leukemia: A random association?

    Science.gov (United States)

    Decimi, Valentina; Fazio, Grazia; Dell'Acqua, Fabiola; Maitz, Silvia; Galbiati, Marta; Rizzari, Carmelo; Biondi, Andrea; Cazzaniga, Giovanni; Selicorni, Angelo

    2016-12-01

    Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years). We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Repetition Priming in Adults with Williams Syndrome: Age-Related Dissociation between Implicit and Explicit Memory

    Science.gov (United States)

    Krinsky-McHale, Sharon J.; Kittler, Phyllis; Brown, W. Ted; Jenkins, Edmund C.; Devenny, Darlynne A.

    2005-01-01

    We examined implicit and explicit memory in adults with Williams syndrome. An age-related dissociation was found; repetition priming (reflecting implicit memory) did not show change with age, but free recall (reflecting explicit memory) was markedly reduced. We also compared the performance of adults with Williams syndrome to adults with Down…

  20. Dual-Task Processing as a Measure of Executive Function: A Comparison between Adults with Williams and Down Syndromes

    Science.gov (United States)

    Kittler, Phyllis M.; Krinsky-McHale, Sharon J.; Devenny, Darlynne A.

    2008-01-01

    Behavioral phenotypes of individuals with Williams syndrome and individuals with Down syndrome have been contrasted in relation to short-term memory. People with Down syndrome are stronger visuospatially and those with Williams syndrome are stronger verbally. We examined short-term memory, then explored whether dual-task processing further…

  1. How Executive Functions Are Related to Intelligence in Williams Syndrome

    Science.gov (United States)

    Osorio, Ana; Cruz, Raquel; Sampaio, Adriana; Garayzabal, Elena; Martinez-Regueiro, Rocio; Goncalves, Oscar F.; Carracedo, Angel; Fernandez-Prieto, Montse

    2012-01-01

    Williams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group…

  2. Fissured and geographic tongue in Williams-Beuren syndrome

    Directory of Open Access Journals (Sweden)

    Neeta Sharma

    2014-01-01

    Full Text Available Williams-Beuren Syndrome (WBS is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. It is characterized by congenital heart defects, neonatal hypercalcemia, skeletal and renal abnormalities, cognitive disorder, social personality disorder, and dysmorphic facies. A number of clinical findings has been reported, but none of the studies evaluated this syndrome considering oral cavity. We here report a fissured and geographic tongue in association with WBS.

  3. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  4. Neural Correlates of Amusia in Williams Syndrome

    OpenAIRE

    Lense, Miriam D.; Dankner, Nathan; Pryweller, Jennifer R.; Thornton-Wells, Tricia A.; Dykens, Elisabeth M.

    2014-01-01

    Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, neurodevelopmental disorder with a unique auditory phenotype including auditory sensitivities and increased emotional responsiveness to music but variable musical skill. The current study used structural T1-weighted magnetic resonance imaging and diffus...

  5. The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital.

    Science.gov (United States)

    De Lorenzo, Francesca; Macchiaiolo, Marina; Carlevaris, Carla Maria; Bartuli, Andrea

    2017-05-31

    A new approach has been designed at the Bambino Gesù Children's Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is characterized by a combination of distinguishing physical traits, congenital anomalies, intellectual disabilities, and a specific developmental profile.This manuscript describes the case of a Williams Syndrome patient.There are only few papers in the scientific literature describing interventions targeting improvement in the quality of life of adult Williams Syndrome individuals. Therefore, this experience may prove useful to several patients, their families, and the experts helping them.We described an example of intervention aimed at guiding and facilitating a Williams Syndrome patient within a work environment, taking into consideration the peaks and valleys of these individuals' specific abilities.Based on our results, we also stressed the need to promote a set of projects and initiatives aimed at enhancing as much as possible self-sufficiency and psycho-affective balance in Williams Syndrome individuals, in order to protect their dignity and self-esteem.

  6. Health and Social Outcomes in Adults with Williams Syndrome: Findings from Cross-Sectional and Longitudinal Cohorts

    Science.gov (United States)

    Elison, Sarah; Stinton, Chris; Howlin, Patricia

    2010-01-01

    Previous studies have investigated trajectories of cognitive, language and adaptive functioning in Williams syndrome (WS) but little is known about how other aspects of the Williams syndrome behavioural phenotype change across the life-span. Therefore, the present study examined age associated changes in a number of different domains of…

  7. Orientation Perception in Williams Syndrome: Discrimination and Integration

    Science.gov (United States)

    Palomares, Melanie; Landau, Barbara; Egeth, Howard

    2009-01-01

    Williams Syndrome (WS) is a rare neurodevelopmental disorder, which stems from a genetic deletion on chromosome 7 and causes a profound weakness in visuospatial cognition. Our current study explores how orientation perception may contribute to the visuospatial deficits in WS. In Experiment 1, we found that WS individuals and normal 3-4 year olds…

  8. Comparing the Broad Socio-Cognitive Profile of Youth with Williams Syndrome and 22Q11.2 Deletion Syndrome

    Science.gov (United States)

    Weisman, O.; Feldman, R.; Burg-Malki, M.; Keren, M.; Geva, R.; Diesendruck, G.; Gothelf, D.

    2017-01-01

    Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…

  9. Advocating for Inclusion of Children with Williams Syndrome

    Science.gov (United States)

    Self, Michelle A.

    2010-01-01

    The purpose of this study was to describe and explore the experience of inclusion of students with Williams syndrome, a rare genetic condition of a microdeletion on chromosome 7 which has medical, behavior, and cognitive issues. The study was conducted by gaining an understanding from the parents' point of view. The study was twofold. First, the…

  10. Anaesthesia-related haemodynamic complications in Williams syndrome patients: a review of one institution's experience.

    Science.gov (United States)

    Olsen, M; Fahy, C J; Costi, D A; Kelly, A J; Burgoyne, L L

    2014-09-01

    Williams syndrome is a genetic disorder associated with cardiac pathology, including supravalvular aortic stenosis and coronary artery stenosis. Sudden cardiac death has been reported in the perioperative period and attributed to cardiovascular pathology. In this retrospective audit, case note and anaesthetic records were reviewed for all confirmed Williams syndrome patients who had received an anaesthetic in our institution between July 1974 and November 2009. There were a total of 108 anaesthetics administered in 29 patients. Twelve of the anaesthetics (11.1%) were associated with cardiac complications including cardiac arrest in two cases (1.85%). Of the two cardiac arrests, one patient died within the first 24 hours postanaesthetic and the other patient survived, giving an overall mortality of 0.9% (3.4%). We conclude that Williams syndrome confers a significant anaesthetic risk, which should be recognised and considered by clinicians planning procedures requiring general anaesthesia.

  11. Gender Attribution and Gender Agreement in French Williams Syndrome

    Science.gov (United States)

    Boloh, Yves; Ibernon, Laure; Royer, Stephanie; Escudier, Frederique; Danillon, Aurelia

    2009-01-01

    Previous studies on grammatical gender in French individuals with Williams syndrome (WS) have led to conflicting findings and interpretations regarding keys abilities--gender attribution and gender agreement. New production data from a larger SW sample (N = 24) showed that gender attribution scores in SW participants exactly mirrored those of…

  12. Visually Guided Step Descent in Children with Williams Syndrome

    Science.gov (United States)

    Cowie, Dorothy; Braddick, Oliver; Atkinson, Janette

    2012-01-01

    Individuals with Williams syndrome (WS) have impairments in visuospatial tasks and in manual visuomotor control, consistent with parietal and cerebellar abnormalities. Here we examined whether individuals with WS also have difficulties in visually controlling whole-body movements. We investigated visual control of stepping down at a change of…

  13. Binding of Visual and Spatial Short-Term Memory in Williams Syndrome and Moderate Learning Disability

    Science.gov (United States)

    Jarrold, Christopher; Phillips, Caroline; Baddeley, Alan D

    2007-01-01

    A main aim of this study was to test the claim that individuals with Williams syndrome have selectively impaired memory for spatial as opposed to visual information. The performance of 16 individuals with Williams syndrome (six males, 10 females; mean age 18y 7mo [SD 7y 6mo], range 9y 1mo-30y 7mo) on tests of short-term memory for item and…

  14. Pulmonary arterial stent implantation in an adult with Williams syndrome

    NARCIS (Netherlands)

    Reesink, Herre J.; Henneman, Onno D. F.; van Delden, Otto M.; Biervliet, Jules D.; Kloek, Jaap J.; Reekers, Jim A.; Bresser, Paul

    2007-01-01

    We report a 38-year-old patient who presented with pulmonary hypertension and right ventricular dysfunction due to pulmonary artery stenoses as a manifestation of Williams syndrome, mimicking chronic thromboembolic pulmonary hypertension. The patient was treated with balloon angioplasty and stent

  15. Beyond Behaviour: Is Social Anxiety Low in Williams Syndrome?

    Science.gov (United States)

    Dodd, Helen F.; Schniering, Carolyn A.; Porter, Melanie A.

    2009-01-01

    Individuals with Williams syndrome (WS) exhibit striking social behaviour that may be indicative of abnormally low social anxiety. The present research aimed to determine whether social anxiety is unusually low in WS and to replicate previous findings of increased generalised anxiety in WS using both parent and self report. Fifteen individuals…

  16. Musicality Correlates with Sociability and Emotionality in Williams Syndrome

    Science.gov (United States)

    Ng, Rowena; Lai, Philip; Levitin, Daniel J.; Bellugi, Ursula

    2013-01-01

    Williams syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable…

  17. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  18. Binding of visual and spatial short-term memory in Williams syndrome and moderate learning disability.

    Science.gov (United States)

    Jarrold, Christopher; Phillips, Caroline; Baddeley, Alan D

    2007-04-01

    A main aim of this study was to test the claim that individuals with Williams syndrome have selectively impaired memory for spatial as opposed to visual information. The performance of 16 individuals with Williams syndrome (six males, 10 females; mean age 18y 7mo [SD 7y 6mo], range 9y 1mo-30y 7mo) on tests of short-term memory for item and location information was compared with that shown by individuals with moderate learning difficulties (12 males, four females; mean age 10y 3mo [SD 1y], range 8y 6mo-11y 7mo) and typically developing children (six males, 10 females; mean age 6y 8mo [SD 7mo], range 5y 10mo-7y 9mo) of an equivalent level of visuospatial ability. A second aim was to determine whether individuals had impaired ability to 'bind' visual spatial information when required to recall 'item in location' information. In contrast to previous findings, there was no evidence that individuals with Williams syndrome were more impaired in the spatial than the visual memory condition. However, individuals with both Williams syndrome and moderate learning difficulties showed impaired memory for item in location information, suggesting that problems of binding may be generally associated with learning disability.

  19. Social phenotypes of autism spectrum disorders and Williams syndrome: similarities and differences

    Directory of Open Access Journals (Sweden)

    Kosuke eAsada

    2012-07-01

    Full Text Available Autism spectrum disorders (ASD and Williams syndrome (WS both are neurodevelopmental disorders, each with a unique social phenotypic pattern. This review article aims to define the similarities and differences between the social phenotypes of ASD and WS. We review studies that have examined individuals with WS using diagnostic assessments such as the Autism Diagnostic Observation Schedule (ADOS, cross-syndrome direct comparison studies, and studies that have individually examined either disorder. We conclude that (1 Individuals with these disorders show quite contrasting phenotypes for face processing (i.e., preference to faces and eyes and sociability (i.e., interest in and motivation to interact with others, and (2 Although the ADOS and a direct comparison study on pragmatic language ability suggest more deficits in ASD, individuals with WS are similarly impaired on social cognition and communicative skills. In light of these results, we discuss how cross-syndrome comparisons between ASD and WS can contribute to developmental theory, cognitive neuroscience, and the development and choice of clinical treatments.

  20. The Role of Spiral Multidetector Dynamic CT in the Study of Williams-Campbell Syndrome

    International Nuclear Information System (INIS)

    Scioscio, V. di; Zompatori, M.; Mistura, I.; Montanari, P.; Santilli, L.; Luccaroni, R.; Sverzellati, N.

    2006-01-01

    Williams-Campbell syndrome is a cystic bronchiectatic disease secondary to deficiency or defect of cartilaginous plates in the wall of the airways. In the literature, two main forms are suggested: congenital and acquired (post-infectious). The most frequent symptoms are represented by recurrent pulmonary infections from childhood. Multislice spiral dynamic CT has a major role in the study of cystic pulmonary disease and in differentiating Williams-Campbell syndrome from the other causes of cystic bronchiectasis, in which even lung function tests can give deceptive results

  1. The Role of Spiral Multidetector Dynamic CT in the Study of Williams-Campbell Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scioscio, V. di; Zompatori, M.; Mistura, I.; Montanari, P.; Santilli, L.; Luccaroni, R.; Sverzellati, N. [Medical Univ. of Bologna, S. Orsola-Malpighi Policlinic (Italy). Dept. of Radiology

    2006-10-15

    Williams-Campbell syndrome is a cystic bronchiectatic disease secondary to deficiency or defect of cartilaginous plates in the wall of the airways. In the literature, two main forms are suggested: congenital and acquired (post-infectious). The most frequent symptoms are represented by recurrent pulmonary infections from childhood. Multislice spiral dynamic CT has a major role in the study of cystic pulmonary disease and in differentiating Williams-Campbell syndrome from the other causes of cystic bronchiectasis, in which even lung function tests can give deceptive results.

  2. Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion

    Directory of Open Access Journals (Sweden)

    Cristina de Sylos

    2002-08-01

    Full Text Available We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

  3. Case report of sudden death in a child with Williams syndrome ...

    African Journals Online (AJOL)

    A two year old child, confirmed with Williams syndrome (WS) ... and no relevant cardiac history such as chest pain or episodes ... brain, abdominal and pelvic organ blocks. .... a fully functional operating theatre complex presents a number.

  4. Aortic anomalies in an adolescent with the Williams' elfin facies syndrome

    International Nuclear Information System (INIS)

    Williams, R.L.; Azouz, E.M.

    1984-01-01

    An adolescent with classical Williams' syndrome who presented with hypertensive encephalopathy is described. He had the unusual combination of supravalvular aortic stenosis, long segment coarctation of the aorta, aortic hypoplasia and a high bifurcation of the abdominal aorta. Surgical resection of the coarctation was required; however, the patient has remained moderately hypertensive. The aortic anomalies in this syndrome are reviewed and their frequency and importance examined. (orig.)

  5. Speech Timing and Verbal Short-Term Memory: Evidence for Contrasting Deficits in Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Cowan, Nelson; Hewes, Alexa K.; Riby, Deborah M.

    2004-01-01

    This study explored the degree of verbal short-term memory deficit among individuals with Down syndrome and Williams syndrome, and the extent to which any such impairment could be accounted for by a relative slowing of rehearsal and output processes. Measures of serial recall and detailed assessments of speeded articulation for short and long…

  6. Atypical Sleep Architecture and Altered EEG Spectra in Williams Syndrome

    Science.gov (United States)

    Gombos, F.; Bodizs, R.; Kovacs, I.

    2011-01-01

    Background: Williams syndrome (WS) is a neurodevelopmental genetic disorder characterised by physical abnormalities and a distinctive cognitive profile with intellectual disabilities (IDs) and learning difficulties. Methods: In our study, nine adolescents and young adults with WS and 9 age- and sex-matched typically developing (TD) participants…

  7. Performance on verbal and low-verbal false belief tasks: evidence from children with Williams syndrome.

    Science.gov (United States)

    Van Herwegen, Jo; Dimitriou, Dagmara; Rundblad, Gabriella

    2013-01-01

    Previous studies that have investigated the relationship between performance on theory of mind (ToM) tasks and verbal abilities in individuals with Williams syndrome (WS) have reported contradictory findings with some showing that language abilities aid performance on ToM tasks while others have found that participants with WS fail these tasks because of their verbal demands. The current study investigated this relationship again comparing performance on a classical change-location task to two newly developed low-verbal tasks, one change-location task and one unexpected content task. Thirty children with WS (aged 5-17;01 years) and 30 typically developing (TD) children (aged between 2;10 years and 9;09 years), who were matched for vocabulary comprehension scores were included in the study. Although performance in the WS group was significantly poorer compared to the TD group on all three tasks, performance was not predicted by their receptive vocabulary or grammatical ability scores. In addition, ToM abilities in both groups depended on the cognitive demands of the task at hand. This finding shows that performance on ToM tasks in WS is not necessarily hindered by their delayed language abilities but rather by the task administered. This could potentially affect the diagnosis of developmental disorders, such as Autism Spectrum Disorders, and comparison of ToM abilities across developmental disorders. Readers of this article should be able to (1) describe the current state of theory of mind research in Williams syndrome, (2) identify which cognitive abilities might explain performance on theory of mind tasks in both typically developing children and in children with Williams syndrome, and (3) interpret the importance of task demands when assessing children's theory of mind abilities. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. The Development of Route Learning in Down Syndrome, Williams Syndrome and Typical Development: Investigations with Virtual Environments

    Science.gov (United States)

    Purser, Harry R. M.; Farran, Emily K.; Courbois, Yannick; Lemahieu, Axelle; Sockeel, Pascal; Mellier, Daniel; Blades, Mark

    2015-01-01

    The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to…

  9. The Interplay between Anxiety and Social Functioning in Williams Syndrome

    Science.gov (United States)

    Riby, Deborah M.; Hanley, Mary; Kirk, Hannah; Clark, Fiona; Little, Katie; Fleck, Ruth; Janes, Emily; Kelso, Linzi; O'Kane, Fionnuala; Cole-Fletcher, Rachel; Allday, Marianne Hvistendahl; Hocking, Darren; Cornish, Kim; Rodgers, Jacqui

    2014-01-01

    The developmental disorder Williams syndrome (WS) has been associated with an atypical social profile of hyper-sociability and heightened social sensitivity across the developmental spectrum. In addition, previous research suggests that both children and adults with WS have a predisposition towards anxiety. The current research aimed to explore…

  10. How Flexible is the Use of Egocentric Versus Allocentric Frame of Reference in the Williams Syndrome Population?

    Science.gov (United States)

    Heiz, J; Majerus, S; Barisnikov, K

    2017-09-28

    This study examined the spontaneous use of allocentric and egocentric frames of reference and their flexible use as a function of instructions. The computerized spatial reference task created by Heiz and Barisnikov (2015) was used. Participants had to choose a frame of reference according to three types of instructions: spontaneous, allocentric and egocentric. The performances of 16 Williams Syndrome participants between 10 and 41 years were compared to those of two control groups (chronological age and non-verbal intellectual ability). The majority of Williams Syndrome participants did not show a preference for a particular frame of reference. When explicitly inviting participants to use an allocentric frame of reference, all three groups showed an increased use of the allocentric frame of reference. At the same time, an important heterogeneity of type of frame of reference used by Williams Syndrome participants was observed. Results demonstrate that despite difficulties in the spontaneous use of allocentric and egocentric frames of reference, some Williams Syndrome participants show flexibility in the use of an allocentric frame of reference when an explicit instruction is provided. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. Perceptual Speech and Paralinguistic Skills of Adolescents with Williams Syndrome

    Science.gov (United States)

    Hargrove, Patricia M.; Pittelko, Stephen; Fillingane, Evan; Rustman, Emily; Lund, Bonnie

    2013-01-01

    The purpose of this research was to compare selected speech and paralinguistic skills of speakers with Williams syndrome (WS) and typically developing peers and to demonstrate the feasibility of providing preexisting databases to students to facilitate graduate research. In a series of three studies, conversational samples of 12 adolescents with…

  12. Comprehension of Metaphor and Metonymy in Children with Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Van Herwegen, Jo; Thomas, Michael; Fishman, Roza; Karmiloff-Smith, Annette; Rundblad, Gabriella

    2009-01-01

    Background: Figurative language, such as metaphor and metonymy, is very common in daily language use. Its underlying cognitive processes are sometimes viewed as lying at the interface of language and thought. Williams syndrome, which is a rare genetic developmental disorder, provides an opportunity to study this interface because individuals with…

  13. Developmental Course of Conversational Behaviour of Children with 22q11.2 Deletion Syndrome and Williams Syndrome

    Science.gov (United States)

    Van Den Heuvel, Ellen; Botting, Nicola; Boudewijns, Inge; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-01-01

    This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7-13) and Williams syndrome (WS, n = 8, ages 6-12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid…

  14. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.

    Science.gov (United States)

    Hobart, Holly H; Morris, Colleen A; Mervis, Carolyn B; Pani, Ariel M; Kistler, Doris J; Rios, Cecilia M; Kimberley, Kendra W; Gregg, Ronald G; Bray-Ward, Patricia

    2010-05-15

    Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. Deletion of the Williams syndrome chromosome region (WSCR) occurs sporadically. To better define chance for familial recurrence and to investigate the prevalence of genomic rearrangements of the region, 257 children with WS and their parents were studied. We determined deletion size in probands by metaphase FISH, parent-of-origin of the deleted chromosome by molecular genetic methods, and inversion status of the WSCR in both parents by interphase FISH. The frequency of WSCR inversion in the transmitting parent group was 24.9%. In contrast, the rate of inversion in the non-transmitting parent group (a reasonable estimate of the rate in the general population) was 5.8%. There were no significant gender differences with respect to parent-of-origin for the deleted chromosome or the incidence of the inversion polymorphism. There was no difference in the rate of spontaneous abortion for mothers heterozygous for the WSCR inversion relative to mothers without the inversion. We calculate that for a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parent without an inversion.

  15. Behavioral Profiles of Children with Williams Syndrome from Spain and the United States: Cross-Cultural Similarities and Differences

    Science.gov (United States)

    Pérez-García, Débora; Brun-Gasca, Carme; Pérez-Jurado, Luis A.; Mervis, Carolyn B.

    2017-01-01

    To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than…

  16. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1.

    Science.gov (United States)

    Kozel, Beth A; Danback, Joshua R; Waxler, Jessica L; Knutsen, Russell H; de Las Fuentes, Lisa; Reusz, Gyorgy S; Kis, Eva; Bhatt, Ami B; Pober, Barbara R

    2014-01-01

    Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. Extrapolation from the Eln(+/-) mouse suggests that affected people may also have stiff vasculature, a risk factor for stroke, myocardial infarction, and cardiac death. NCF1, one of the variably deleted Williams genes, is a component of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex and is involved in the generation of oxidative stress, making it an interesting candidate modifier for vascular stiffness. Using a case-control design, vascular stiffness was evaluated by pulse wave velocity in 77 Williams cases and matched controls. Cases had stiffer conducting vessels than controls (PWilliams syndrome. Pulse wave velocity increased with age at comparable rates in cases and controls, and although the degree of vascular stiffness varied, it was seen in both hypertensive and normotensive Williams participants. Use of antihypertensive medication and extension of the Williams deletion to include NCF1 were associated with protection from vascular stiffness. These findings demonstrate that vascular stiffness is a primary vascular phenotype in Williams syndrome and that treatment with antihypertensives or agents inhibiting oxidative stress may be important in managing patients with this condition, potentially even those who are not overtly hypertensive.

  17. Audiological follow-up of 24 patients affected by Williams syndrome.

    Science.gov (United States)

    Barozzi, Stefania; Soi, Daniela; Spreafico, Emanuela; Borghi, Anna; Comiotto, Elisabetta; Gagliardi, Chiara; Selicorni, Angelo; Forti, Stella; Cesarani, Antonio; Brambilla, Daniele

    2013-09-01

    Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in

  18. Examining Reports of Mental Health in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Tomlinson, Katie; Estes, Zachary

    2012-01-01

    Prior research suggests that individuals with Williams syndrome (WS) have a disposition towards anxiety. Information regarding this is typically derived from parents and carers. The perspectives of the individuals with WS are rarely included in research of this nature. We examined the mental health of 19 adults with WS using explicit (psychiatric…

  19. Human versus Non-Human Face Processing: Evidence from Williams Syndrome

    Science.gov (United States)

    Santos, Andreia; Rosset, Delphine; Deruelle, Christine

    2009-01-01

    Increased motivation towards social stimuli in Williams syndrome (WS) led us to hypothesize that a face's human status would have greater impact than face's orientation on WS' face processing abilities. Twenty-nine individuals with WS were asked to categorize facial emotion expressions in real, human cartoon and non-human cartoon faces presented…

  20. Personal Space Regulation in Williams Syndrome: The Effect of Familiarity

    Science.gov (United States)

    Lough, Emma; Flynn, Emma; Riby, Deborah M.

    2016-01-01

    Personal space refers to a protective barrier that we strive to maintain around our body. We examined personal space regulation in young people with Williams syndrome (WS) and their typically developing, chronological age-matched peers using a parent report questionnaire and a stop-distance paradigm. Individuals with WS were reported by their…

  1. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.

    Science.gov (United States)

    Todorova, Margarita G; Grieshaber, Matthias C; Cámara, Rafael J A; Miny, Peter; Palmowski-Wolfe, Anja M

    2014-05-21

    Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion. A term born girl presented at the initial examination with clouding of the right cornea. On ultrasound biomicroscopy the anterior chamber structures were difficult to differentiate, showing severe adhesions from the opacified cornea to the iris with a kerato-irido-lenticular contact to the remnant lens, a finding consistent with Peters' anomaly. Genetic analyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typical Williams-Beuren syndrome. Microsatellite analysis showed a loss of about 2.36 Mb. A diagnosis of Williams-Beuren syndrome was made based on the microdeletion of 7q11.23. The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdeletion. Arguments in favor of the latter are unilateral manifestation, as well as the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations.

  2. The Interplay between Executive Control and Motor Functioning in Williams Syndrome

    Science.gov (United States)

    Hocking, Darren R.; Thomas, Daniel; Menant, Jasmine C.; Porter, Melanie A.; Smith, Stuart; Lord, Stephen R.; Cornish, Kim M.

    2013-01-01

    Previous studies suggest that individuals with Williams syndrome (WS), a rare genetically based neurodevelopmental disorder, show specific weaknesses in visual attention and response inhibition within the visuospatial domain. Here we examine the extent to which impairments in attentional control extend to the visuomotor domain using a…

  3. Adaptive Behavior and Problem Behavior in Young Children with Williams Syndrome

    Science.gov (United States)

    Hahn, Laura J.; Fidler, Deborah J.; Hepburn, Susan L.

    2014-01-01

    The present study compares the adaptive behavior profile of 18 young children with Williams syndrome (WS) and a developmentally matched group of 19 children with developmental disabilities and examines the relationship between adaptive behavior and problem behaviors in WS. Parents completed the Vineland Adaptive Behavioral Scales--Interview…

  4. Elicited Production of Relative Clauses in Children with Williams Syndrome

    Science.gov (United States)

    Zukowski, Andrea

    2009-01-01

    Relative clauses have been implicated alternately as a strength and a weakness in the language of people with Williams Syndrome (WS). To clarify the facts, an elicited production test was administered to 10 people with WS (age 10-16 years), 10 typically developing children (age 4-7 years), and 12 typically developing adults. Nearly every WS…

  5. What does Williams Syndrome Reveal about the Determinants of Social Behavior?

    Directory of Open Access Journals (Sweden)

    Anna Maaria Järvinen

    2013-06-01

    Full Text Available Growing evidence on autonomic nervous system (ANS function in individuals with Williams syndrome (WS has begun to highlight aberrancies that may have important implications for the social profile characterized by enhanced social motivation and approach. In parallel, neurobiological investigations have identified alterations in the structure, function, and connectivity of the amygdala, as well as prosocial neuropeptide dysregulation, as some of the key neurogenetic features of WS. A recent social approach/withdrawal hypothesis (Kemp and Guastella, 2011 suggests that autonomic cardiac control may play a key role in regulating the relationship between oxytocin and social behavior. This article discusses evidence from these critical, new strands of research into social behavior in WS, to consider the extent to which data on WS may provide novel insight into the determinants of social behavior. Future research directions are suggested.

  6. An Investigation into Semantic and Phonological Processing in Individuals with Williams Syndrome

    Science.gov (United States)

    Lee, Cheryl S.; Binder, Katherine S.

    2014-01-01

    Purpose: The current study examined semantic and phonological processing in individuals with Williams syndrome (WS). Previous research in language processing in individuals with WS suggests a complex linguistic system characterized by "deviant" semantic organization and differential phonological processing. Method: Two experiments…

  7. Developmental Trajectories of Structural and Pragmatic Language Skills in School-Aged Children with Williams Syndrome

    Science.gov (United States)

    Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I.

    2016-01-01

    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…

  8. Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.

    Science.gov (United States)

    Koren, Ilana; Kessel, Ira; Rotschild, Avi; Cohen-Kerem, Raanan

    2015-09-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  9. Case report of sudden death in a child with Williams syndrome ...

    African Journals Online (AJOL)

    Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of ...

  10. Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

    Science.gov (United States)

    Copes, L E; Pober, B R; Terilli, C A

    2016-07-01

    Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Prosodic Abilities of Spanish-Speaking Adolescents and Adults with Williams Syndrome

    Science.gov (United States)

    Martinez-Castilla, Pastora; Sotillo, Maria; Campos, Ruth

    2011-01-01

    In spite of the relevant role of prosody in communication, and in contrast with other linguistic components, there is paucity of research in this field for Williams syndrome (WS). Therefore, this study performed a systematic assessment of prosodic abilities in WS. The Spanish version of the Profiling Elements of Prosody in Speech-Communication…

  12. Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

    Science.gov (United States)

    Lense, Miriam Diane; Tomarken, Andrew J.; Dykens, Elisabeth M.

    2013-01-01

    Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in…

  13. Featural versus configural face processing in a rare genetic disorder: Williams syndrome

    NARCIS (Netherlands)

    Isaac, L.; Lincoln, A.

    2011-01-01

    Background Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with impairment in the cognitive domains of

  14. Williams Syndrome and Anesthesia for Non-cardiac Surgery: High Risk Can Be Mitigated with Appropriate Planning.

    Science.gov (United States)

    Brown, Morgan L; Nasr, Viviane G; Toohey, Rebecca; DiNardo, James A

    2018-03-23

    Patients with Williams syndrome are considered at high risk for anesthesia-related adverse events. At our institution, all William syndrome patients undergoing cardiac surgical, cardiac catheterization/interventional procedures, and cardiac imaging studies are cared for by cardiac anesthesiologists. All William syndrome patients undergoing non-cardiac surgical, interventional, or imaging studies are cared for by main operating room pediatric anesthesiologists with consultative input from a cardiac anesthesiologist. We reviewed our experience with 75 patients undergoing 202 separate anesthetics for 95 non-cardiac procedures and 107 cardiac procedures from 2012 to 2016. The mean age was 7.5 ± 7.0 years and the mean weight was 22.3 ± 17.0 kg. One hundred and eighty-seven patients had a general anesthetic (92.6%). Medications used included etomidate in 26.2%, propofol in 37.6%, isoflurane in 47.5%, and sevoflurane in 68.3%. Vasopressors and inotropes were required including calcium (22.8%), dopamine (10.4%), norepinephrine (17.3%), phenylephrine (35.1%), vasopressin (0.5%), and ephedrine (5.4%). The median length of stay after anesthesia was 2.8 days (range 0-32). No adverse events occurred in 89.6% of anesthetics. There were two cases of cardiac arrest, one of which required extracorporeal life support for resuscitation. Of the non-cardiac surgical procedures, 95.7% did not have a cardiovascular adverse event. Patients with Williams syndrome are at high risk for anesthesia, especially when undergoing cardiac procedures. The risk can be mitigated with appropriate planning and adherence to the hemodynamic goals for non-cardiac surgical procedures.

  15. Drug-Coated Balloon Angioplasty: A Novel Treatment for Pulmonary Artery In-Stent Stenosis in a Patient with Williams Syndrome.

    Science.gov (United States)

    Cohen, Jennifer L; Glickstein, Julie S; Crystal, Matthew A

    2017-12-01

    A 20-month-old boy with Williams syndrome had undergone multiple surgical and catheter-based interventions for resistant peripheral pulmonary arterial stenoses with eventual bilateral stent placement and conventional balloon angioplasty. He persistently developed suprasystemic right ventricular (RV) pressure. Angioplasty with a drug-coated balloon (DCB) was performed for in-stent restenosis and to remodel his distal pulmonary vessels bilaterally. This resulted in immediate improvement in the in-stent stenosis and resultant decrease in RV pressure. Follow-up catheterization two months later continued to show long-lasting improvement in the in-stent stenosis. We hypothesize that the anti-proliferative effects of DCBs may be of benefit in the arteriopathy associated with Williams syndrome. We report this as a novel use of a DCB in the pulmonary arterial circulation in a patient with Williams syndrome.

  16. Sleep EEG Fingerprints Reveal Accelerated Thalamocortical Oscillatory Dynamics in Williams Syndrome

    Science.gov (United States)

    Bodizs, Robert; Gombos, Ferenc; Kovacs, Ilona

    2012-01-01

    Sleep EEG alterations are emerging features of several developmental disabilities, but detailed quantitative EEG data on the sleep phenotype of patients with Williams syndrome (WS, 7q11.23 microdeletion) is still lacking. Based on laboratory (Study I) and home sleep records (Study II) here we report WS-related features of the patterns of…

  17. Toddlers with Williams Syndrome Process Upright but Not Inverted Faces Holistically

    Science.gov (United States)

    Cashon, Cara H.; Ha, Oh-Ryeong; DeNicola, Christopher A.; Mervis, Carolyn B.

    2013-01-01

    Holistic processing of upright, but not inverted, faces is a marker of perceptual expertise for faces. This pattern is shown by typically developing individuals beginning at age 7 months. Williams syndrome (WS) is a rare neurogenetic developmental disorder characterized by extreme interest in faces from a very young age. Research on the effects of…

  18. Williams syndrome and its cognitive profile: the importance of eye movements

    Directory of Open Access Journals (Sweden)

    Van Herwegen J

    2015-06-01

    Full Text Available Jo Van Herwegen Department of Psychology, Kingston University London, Surrey, UK Abstract: People with Williams syndrome (WS, a rare neurodevelopmental disorder that is caused by a deletion on the long arm of chromosome 7, often show an uneven cognitive profile with participants performing better on language and face recognition tasks, in contrast to visuospatial and number tasks. Recent studies have shown that this specific cognitive profile in WS is a result of atypical developmental processes that interact with and affect brain development from infancy onward. Using examples from language, face processing, number, and visuospatial studies, this review evaluates current evidence from eye-tracking and developmental studies and argues that domain general processes, such as the ability to plan or execute saccades, influence the development of these domain-specific outcomes. Although more research on eye movements in WS is required, the importance of eye movements for cognitive development suggests a possible intervention pathway to improve cognitive abilities in this population. Keywords: Williams syndrome, eye movements, face processing, language, number, visuospatial abilities

  19. Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.

    Science.gov (United States)

    Crespi, Bernard J; Hurd, Peter L

    2014-11-28

    Individuals with Williams syndrome, a neurogenetic condition caused by deletion of a set of genes at chromosomal location 7q11.23, exhibit a remarkable suite of traits including hypersociality with high, nonselective friendliness and low social anxiety, expressive language relatively well-developed but under-developed social-communication skills overall, and reduced visual-spatial abilities. Deletions and duplications of the Williams-syndrome region have also been associated with autism, and with schizophrenia, two disorders centrally involving social cognition. Several lines of evidence have linked the gene GTF2I (General Transcription Factor IIi) with the social phenotypes of Williams syndrome, but a role for this gene in sociality within healthy populations has yet to be investigated. We genotyped a large set of healthy individuals for two single-nucleotide polymorphisms in the GTF2I gene that have recently been significantly associated with autism, and thus apparently exhibit functional effects on autism-related social phenotypes. GTF2I genotypes for these SNPs showed highly significant association with low social anxiety combined with reduced social-communication abilities, which represents a metric of the Williams-syndrome cognitive profile as described from previous studies. These findings implicate the GTF2I gene in the neurogenetic basis of social communication and social anxiety, both in Williams syndrome and among individuals in healthy populations.

  20. Perceiving Facial and Vocal Expressions of Emotion in Individuals with Williams Syndrome

    Science.gov (United States)

    Plesa-Skwerer, Daniela; Faja, Susan; Schofield, Casey; Verbalis, Alyssa; Tager-Flusberg, Helen

    2006-01-01

    People with Williams syndrome are extremely sociable, empathic, and expressive in communication. Some researchers suggest they may be especially sensitive to perceiving emotional expressions. We administered the Faces and Paralanguage subtests of the Diagnostic Analysis of Nonverbal Accuracy Scale (DANVA2), a standardized measure of emotion…

  1. The Production of Figurative Language in Typically Developing Children and Williams Syndrome

    Science.gov (United States)

    Naylor, Lauren; Van Herwegen, Jo

    2012-01-01

    The current study investigated the development of figurative language production, including different types of figurative expressions, during a fictional narrative in 20 typically developing (TD) children and 20 children with Williams syndrome (WS) aged 7-18 years old. In contrast to previous studies, developmental trajectories showed that (1) the…

  2. A Comparison between Linguistic Skills and Socio-Communicative Abilities in Williams Syndrome

    Science.gov (United States)

    Alfieri, P.; Menghini, D.; Marotta, L.; De Peppo, L.; Ravà, L.; Salvaguardia, F.; Varuzza, C.; Vicari, S.

    2017-01-01

    Background: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. Aim: The aim of the present study was to investigate whether…

  3. Evaluation of a Stranger Safety Training Programme for Adults with Williams Syndrome

    Science.gov (United States)

    Fisher, M. H.

    2014-01-01

    Background: Individuals with Williams syndrome (WS) are reported to display increased sociability towards strangers, leading to increased social vulnerability. No research has examined real life interactions of adults with WS towards strangers and no interventions have been implemented to teach stranger safety skills to this population. Method:…

  4. Contrast-Marking Prosodic Emphasis in Williams Syndrome: Results of Detailed Phonetic Analysis

    Science.gov (United States)

    Ito, Kiwako; Martens, Marilee A.

    2017-01-01

    Background: Past reports on the speech production of individuals with Williams syndrome (WS) suggest that their prosody is anomalous and may lead to challenges in spoken communication. While existing prosodic assessments confirm that individuals with WS fail to use prosodic emphasis to express contrast, those reports typically lack detailed…

  5. Parents perceptions of social inclusion for children with Williams Syndrome

    OpenAIRE

    Gulliver, Katherine

    2016-01-01

    This thesis explores parents’ perceptions of social inclusion for children with Williams Syndrome; a rare intellectual disability with a distinct social cognitive profile. 5 interviews with parents give rich understanding to what parents’ value for their child’s education, and how this is achieved. Thematic analysis highlights key similarities and differences in experiences between parents of children attending mainstream schools and one special school. Severity of disability affects how pare...

  6. Morphological differences in the mirror neuron system in Williams Syndrome

    OpenAIRE

    Ng, Rowena; Brown, Timothy T.; Erhart, Matthew; Järvinen, Anna M.; Korenberg, Julie R.; Bellugi, Ursula; Halgren, Eric

    2015-01-01

    Williams syndrome (WS) is a genetic condition characterized by an overly gregarious personality, including high empathetic concern for others. Although seemingly disparate from the profile of autism spectrum disorder (ASD), both are associated with deficits in social communication/cognition. Notably, the mirror neuron system (MNS) has been implicated in social dysfunction for ASD; yet, the integrity of this network and its association with social functioning in WS remains unknown. Magnetic re...

  7. Spatial-Sequential and Spatial-Simultaneous Working Memory in Individuals with Williams Syndrome

    Science.gov (United States)

    Lanfranchi, Silvia; De Mori, Letizia; Mammarella, Irene C.; Carretti, Barbara; Vianello, Renzo

    2015-01-01

    The aim of the present study was to compare visuospatial working memory performance in 18 individuals with Williams syndrome (WS) and 18 typically developing (TD) children matched for nonverbal mental age. Two aspects were considered: task presentation format (i.e., spatial-sequential or spatial-simultaneous), and level of attentional control…

  8. Patterns and Trajectories in Williams Syndrome: The Case of Visual Orientation Discrimination

    Science.gov (United States)

    Palomares, Melanie; Englund, Julia A.; Ahlers, Stephanie

    2011-01-01

    Williams Syndrome (WS) is a developmental disorder typified by deficits in visuospatial cognition. To understand the nature of this deficit, we characterized how people with WS perceive visual orientation, a fundamental ability related to object identification. We compared WS participants to typically developing children (3-6 years of age) and…

  9. Factor Structure of the Children's Behavior Questionnaire in Children with Williams Syndrome

    Science.gov (United States)

    Leyfer, Ovsanna; John, Angela E.; Woodruff-Borden, Janet; Mervis, Carolyn B.

    2012-01-01

    To examine the factor structure of temperament in 5-10-year-olds with Williams syndrome, an exploratory factor analysis was conducted on the responses of parents of 192 children on the children's behavior questionnaire. Four factors were identified. Two corresponded to factors reported for typically developing children: effortful control and…

  10. Severity of Hyperacusis Predicts Individual Differences in Speech Perception in Williams Syndrome

    Science.gov (United States)

    Elsabbagh, M.; Cohen, H.; Cohen, M.; Rosen, S.; Karmiloff-Smith, A.

    2011-01-01

    Background: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in language in the face of serious impairment in several other domains. Individuals with WS display an unusual sensitivity to noise, known as hyperacusis. Methods: In this study, we examined the extent to which hyperacusis…

  11. Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting

    OpenAIRE

    Lumaka, Aimé; Lukoo, Rita; Mubungu, Gerrye; Lumbala, Paul; Mbayabo, Gloire; Mupuala, Aimée; Lukusa-Tshilobo, Prosper; Devriendt, Koenraad

    2016-01-01

    Key Clinical Message Patients with Williams?Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray?CGH. The present report aims to...

  12. Parent and Teacher Perspectives about Problem Behavior in Children with Williams Syndrome

    Science.gov (United States)

    Klein-Tasman, Bonita P.; Lira, Ernesto N.; Li-Barber, Kirsten T.; Gallo, Frank J.; Brei, Natalie G.

    2015-01-01

    Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions,…

  13. The Use of Cohesive Markers in Narratives by Children with Williams Syndrome

    Science.gov (United States)

    Jones, Nancy Elizabeth

    2013-01-01

    This study examined how children and adolescents with Williams syndrome (WS; ages 8 years, 0 months [8;0]-14;5) used referential devices (determiners and pronouns), tense, and connectives to create cohesion in oral narratives based on a storybook compared to typically developing mentally and chronologically age-matched children. WS children used…

  14. Williams Syndrome Hypersociability: A Neuropsychological Study of the Amygdala and Prefrontal Cortex Hypotheses

    Science.gov (United States)

    Capitao, Liliana; Sampaio, Adriana; Fernandez, Montse; Sousa, Nuno; Pinheiro, Ana; Goncalves, Oscar F.

    2011-01-01

    Individuals with Williams syndrome display indiscriminate approach towards strangers. Neuroimaging studies conducted so far have linked this social profile to structural and/or functional abnormalities in WS amygdala and prefrontal cortex. In this study, the neuropsychological hypotheses of amygdala and prefrontal cortex involvement in WS…

  15. Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

    OpenAIRE

    Van Den Heuvel, E.; Botting, N.; Boudewijns, I.; Manders, E.; Swillen, A.; Zink, I.

    2017-01-01

    This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6–12). We re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. ...

  16. Mental Health Concerns in Williams Syndrome: Intervention Considerations and Illustrations from Case Examples

    Science.gov (United States)

    Phillips, Kristin D.; Klein-Tasman, Bonita P.

    2009-01-01

    The refinement of the Williams syndrome phenotype has frequently included the study of behavioral and temperamental features common to individuals with this disorder. Within this line of research, the importance of evaluating incidence of psychopathology has been increasingly recognized, with studies consistently identifying an increased risk for…

  17. The Development of Metaphorical Language Comprehension in Typical Development and in Williams Syndrome

    Science.gov (United States)

    Thomas, Michael S. C.; Van Duuren, Mike; Purser, Harry R. M.; Mareschal, Denis; Ansari, Daniel; Karmiloff-Smith, Annette

    2010-01-01

    The domain of figurative language comprehension was used to probe the developmental relation between language and cognition in typically developing individuals and individuals with Williams syndrome. Extending the work of Vosniadou and Ortony, the emergence of nonliteral similarity and category knowledge was investigated in 117 typically…

  18. Sleep Patterns and Daytime Sleepiness in Adolescents and Young Adults with Williams Syndrome

    Science.gov (United States)

    Goldman, S. E.; Malow, B. A.; Newman, K. D.; Roof, E.; Dykens, E. M.

    2009-01-01

    Background: Sleep disorders are common in individuals with neurodevelopmental disorders and may adversely affect daytime functioning. Children with Williams syndrome have been reported to have disturbed sleep; however, no studies have been performed to determine if these problems continue into adolescence and adulthood. Methods: This study…

  19. Cortisol Reactivity and Performance Abilities in Social Situations in Adults with Williams Syndrome

    Science.gov (United States)

    Lense, Miriam D.; Dykens, Elisabeth M.

    2013-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder associated with hypersociability and anxiety. However, little is known about how these salient aspects of the phenotype are related or their underlying physiology. We examined cortisol reactivity in WS because cortisol is responsive to psychosocial stress. Compared to typically developing…

  20. Audio-visual speech perception in infants and toddlers with Down syndrome, fragile X syndrome, and Williams syndrome.

    Science.gov (United States)

    D'Souza, Dean; D'Souza, Hana; Johnson, Mark H; Karmiloff-Smith, Annette

    2016-08-01

    Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants. We probed for the McGurk effect, which occurs when the auditory component of one sound (/ba/) is paired with the visual component of another sound (/ga/), leading to the perception of an illusory third sound (/da/ or /tha/). We measured AV integration in 95 infants/toddlers with Down, fragile X, or Williams syndrome, whom we matched on Chronological and Mental Age to 25 TD infants. We also assessed a more basic AV perceptual ability: sensitivity to matching vs. mismatching AV speech stimuli. Infants with Williams syndrome failed to demonstrate a McGurk effect, indicating poor AV speech integration. Moreover, while the TD children discriminated between matching and mismatching AV stimuli, none of the other groups did, hinting at a basic deficit or delay in AV speech processing, which is likely to constrain subsequent language development. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Item and Error Analysis on Raven's Coloured Progressive Matrices in Williams Syndrome

    Science.gov (United States)

    Van Herwegen, Jo; Farran, Emily; Annaz, Dagmara

    2011-01-01

    Raven's Coloured Progressive Matrices (RCPM) is a standardised test that is commonly used to obtain a non-verbal reasoning score for children. As the RCPM involves the matching of a target to a pattern it is also considered to be a visuo-spatial perception task. RCPM is therefore frequently used in studies in Williams Syndrome (WS), in order to…

  2. Longitudinal Trajectories of Intellectual and Adaptive Functioning in Adolescents and Adults with Williams Syndrome

    Science.gov (United States)

    Fisher, M. H.; Lense, M. D.; Dykens, E. M.

    2016-01-01

    Background: Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because…

  3. Heterogeneity of Social Approach Behaviour in Williams Syndrome: The Role of Response Inhibition

    Science.gov (United States)

    Little, Katie; Riby, Deborah M.; Janes, Emily; Clark, Fiona; Fleck, Ruth; Rodgers, Jacqui

    2013-01-01

    The developmental disorder of Williams syndrome (WS) is associated with an overfriendly personality type, including an increased tendency to approach strangers. This atypical social approach behaviour (SAB) has been linked to two potential theories: the amygdala hypothesis and the frontal lobe hypothesis. The current study aimed to investigate…

  4. Gaze Aversion during Social Style Interactions in Autism Spectrum Disorder and Williams Syndrome

    Science.gov (United States)

    Doherty-Sneddon, Gwyneth; Whittle, Lisa; Riby, Deborah M.

    2013-01-01

    During face-to-face interactions typically developing individuals use gaze aversion (GA), away from their questioner, when thinking. GA is also used when individuals with autism (ASD) and Williams syndrome (WS) are thinking during question-answer interactions. We investigated GA strategies during face-to-face social style interactions with…

  5. Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

    Science.gov (United States)

    Weisman, Omri; Feldman, Ruth; Burg-Malki, Merav; Keren, Miri; Geva, Ronny; Diesendruck, Gil; Gothelf, Doron

    2015-01-01

    Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with…

  6. Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Sami A. Sanjad

    2018-05-01

    Full Text Available A 15-month-old male infant diagnosed with Williams Syndrome (WS was admitted with severe hypercalcemia and nephrocalcinosis. Intravenous hydration and furosemide failed to yield an appreciable and sustainable fall in serum calcium, while the injection of pamidronate achieved a significant decrease in serum calcium in a short period of time. This bisphosphonate could be considered as a second-line treatment for refractory hypercalcemia in WS.

  7. Sizeable acquired subglottic cyst in a baby with Williams-Beuren syndrome: association or coincidence?

    Science.gov (United States)

    Christoforidis, Athanasios; Tsakalides, Christos; Chatziavramidis, Angelos; Karagianni, Paraskevi; Dimitriadou, Meropi; Konstantinidis, Iordanis

    2013-10-15

    We describe a case of an acquired subglottic cyst presented with persistent stridor and voice hoarsening in a baby diagnosed with Williams-Beuren syndrome that was born premature and required intubation during neonatal period. We also comment on whether this is a coincidence or there can be an association between impaired elastogenesis, a feature of patients with the syndrome and the formation of a subglottic cyst. © 2013 Elsevier B.V. All rights reserved.

  8. The development of perceptual grouping in infants with Williams syndrome

    OpenAIRE

    Farran, E. K.; Brown, J. H.; Cole, V. L.; Houston-Price, C.; Karmiloff-Smith, A.

    2007-01-01

    Perceptual grouping by luminance similarity and by proximity was investigated in infants with Williams syndrome (WS) aged between 6 and 36 months (visit 1, N=29). WS infants who were still under 36 months old, 8 months later, repeated the testing procedure (visit 2, N=15). Performance was compared to typically developing (TD) infants aged from 2 to 20 months (N=63). Consistent with the literature, TD participants showed grouping by luminance at the youngest testing age, 2 months. Grouping by ...

  9. [Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].

    Science.gov (United States)

    Jin, S J; Liu, M; Long, W J; Luo, X P

    2016-12-02

    Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning. Deleted genes were searched in the Decipher and NCBI databases, and their relationships with the clinical phenotypes were analyzed. Result: A six-month-old boy was refered to us because of unexplained growth retardation and feeding intolerance.The affected child presented with abnormal manifestation such as special face, umbilical hernia, growth retardation, hypothyroidism, congenital heart disease, right ear sensorineural deafness, hypercalcemia and nephrocalcinosis. The child's karyotype was 46, XY, 16qh + , and his parents' karyotypes were normal. Chromosome microarray analysis revealed a 1 436 kb deletion on the 7q11.23(72701098_74136633) region of the child. This region included 23 protein-coding genes, which were reported to be corresponding to Williams-Beuren syndrome and its certain clinical phenotypes. His parents' results of chromosome microarray analysis were normal. Conclusion: A boy with characteristic manifestation of Williams-Beuren syndrome and rare nephrocalcinosis was diagnosed using chromosome microarray analysis. The deletion on the 7q11.23 might be related to the clinical phenotypes of Williams-Beuren syndrome, yet further studies are needed.

  10. Memory profiles of Down, Williams, and fragile X syndromes: implications for reading development.

    Science.gov (United States)

    Conners, Frances A; Moore, Marie S; Loveall, Susan J; Merrill, Edward C

    2011-06-01

    The purpose of this review was to understand the types of memory impairments that are associated with intellectual disability (ID, formerly called mental retardation) and the implications of these impairments for reading development. Specifically, studies on working memory, delayed memory and learning, and semantic/conceptual memory in Down syndrome, Williams syndrome, and fragile X syndrome were examined. A distinct memory profile emerged for each of the 3 etiologies of ID. Memory profiles are discussed in relation to strengths and weaknesses in reading skills in these three etiologies. We suggest that reading instruction be designed to capitalize on relatively stronger memory skills while providing extra support for especially challenging aspects of reading.

  11. Referential Communication Skills of Children with Williams Syndrome: Understanding when Messages Are Not Adequate

    Science.gov (United States)

    John, Angela E.; Rowe, Melissa L.; Mervis, Carolyn B.

    2009-01-01

    Although children with Williams syndrome have relatively good structural language and concrete vocabulary abilities, they have difficulty with pragmatic aspects of language. To investigate the impact of pragmatic difficulties on listener-role referential communication, we administered a picture placement task designed to measure ability to…

  12. Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome

    Science.gov (United States)

    McGrath, Lauren M.; Oates, Joyce M.; Dai, Yael G.; Dodd, Helen F.; Waxler, Jessica; Clements, Caitlin C.; Weill, Sydney; Hoffnagle, Alison; Anderson, Erin; MacRae, Rebecca; Mullett, Jennifer; McDougle, Christopher J.; Pober, Barbara R.; Smoller, Jordan W.

    2016-01-01

    Individuals with Williams syndrome (WS) often experience significant anxiety. A promising approach to anxiety intervention has emerged from cognitive studies of attention bias to threat. To investigate the utility of this intervention in WS, this study examined attention bias to happy and angry faces in individuals with WS (N = 46). Results showed…

  13. Social Attention, Joint Attention and Sustained Attention in Autism Spectrum Disorder and Williams Syndrome: Convergences and Divergences

    Science.gov (United States)

    Vivanti, Giacomo; Fanning, Peter A. J.; Hocking, Darren R.; Sievers, Stephanie; Dissanayake, Cheryl

    2017-01-01

    There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children…

  14. Parent insights into atypicalities of social approach behaviour in Williams syndrome.

    Science.gov (United States)

    Lough, E; Rodgers, J; Janes, E; Little, K; Riby, D M

    2016-11-01

    Individuals with Williams syndrome have been reported to show high levels of social interest and a desire to interact with others irrespective of their familiarity. This high social motivation, when combined with reduced intellectual capacity and a profile of atypical social behaviour, is important in terms of social vulnerability of individuals with the disorder. Therefore, social approach to unfamiliar people and the role of this behaviour within the Williams syndrome (WS) social phenotype warrant further research to inform social skills' intervention design. The current study used parent interviews (n = 21) to probe aspects of social behaviour and interactions with strangers, as well as the impact of such behaviour on the family. Using thematic analysis, it was possible to explore themes that emerged from the interviews, offering qualitatively rich insight into the variability of social approach behaviour in WS. Thematic analysis confirmed a significant desire to interact with strangers as well as a lack of awareness of appropriate social boundaries. However, parental reports about their child's social approach behaviour varied considerably. The within-syndrome variability of the sample was emphasised in parental reports of their child's personality characteristics (e.g. levels of impulsiveness), as well as the level of parental supervision employed. These in-depth parent insights can help target the needs of individuals with WS and emphasise that an individual approach to intervention will be essential because of the heterogeneity of the WS social profile. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  15. Cognitive, Linguistic and Adaptive Functioning in Williams Syndrome: Trajectories from Early to Middle Adulthood

    Science.gov (United States)

    Howlin, Patricia; Elison, Sarah; Udwin, Orlee; Stinton, Christopher

    2010-01-01

    Background: Little is known about trajectories of cognitive functioning as individuals with Williams syndrome (WS) move though adulthood. Method: The present study investigated cognitive, linguistic and adaptive functioning in adults with WS aged 19-55 years, using both cross-sectional and longitudinal approaches. Results: Data from the…

  16. Performance on the Kaufman Brief Intelligence Test-2 by Children with Williams Syndrome

    Science.gov (United States)

    Pitts, C. Holley; Mervis, Carolyn B.

    2016-01-01

    We describe the performance of 292 4- to 17-year-olds with Williams syndrome (WS) on the Kaufman Brief Intelligence Test-2 (KBIT-2; Kaufman & Kaufman, 2004). Mean IQ Composite, Verbal standard score (SS), and Nonverbal SS were in the borderline range relative to the general population, with variability similar to the general population.…

  17. Atypical Verbal Communication Pattern According to Others' Attention in Children with Williams Syndrome

    Science.gov (United States)

    Asada, Kosuke; Tomiwa, Kiyotaka; Okada, Masako; Itakura, Shoji

    2010-01-01

    Children with Williams syndrome (WS) have been reported to often face problems in daily communication and to have deficits in their pragmatic language abilities. To test this hypothesis, we examined whether children with WS could modify their verbal communication according to others' attention in order to share what they did. The children with WS…

  18. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

    Science.gov (United States)

    Dutra, Roberta L; Piazzon, Flavia B; Zanardo, Évelin A; Costa, Thais Virginia Moura Machado; Montenegro, Marília M; Novo-Filho, Gil M; Dias, Alexandre T; Nascimento, Amom M; Kim, Chong Ae; Kulikowski, Leslie D

    2015-12-01

    Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype-phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G-banding showed a karyotype 47,XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation-dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP-array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams-Beuren syndrome and 47,XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements. © 2015 Wiley Periodicals, Inc.

  19. Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome--A Case Series

    Science.gov (United States)

    Valdes, Francisca; Keary, Christopher J.; Mullett, Jennifer E.; Palumbo, Michelle L.; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J.

    2018-01-01

    Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously…

  20. Brief Report: Exploring the Relationship between Sensory Processing and Repetitive Behaviours in Williams Syndrome

    Science.gov (United States)

    Riby, Deborah M.; Janes, Emily; Rodgers, Jacqui

    2013-01-01

    This study explored the relationship between sensory processing abnormalities and repetitive behaviours in children with Williams Syndrome (WS; n = 21). This is a novel investigation bringing together two clinical phenomena for the first time in this neuro-developmental disorder. Parents completed the Sensory Profile (Short Form; Dunn in The…

  1. Pulmonary Arterial Stent Implantation in an Adult with Williams Syndrome

    International Nuclear Information System (INIS)

    Reesink, Herre J.; Henneman, Onno D. F.; Delden, Otto M. van; Biervliet, Jules D.; Kloek, Jaap J.; Reekers, Jim A.; Bresser, Paul

    2007-01-01

    We report a 38-year-old patient who presented with pulmonary hypertension and right ventricular dysfunction due to pulmonary artery stenoses as a manifestation of Williams syndrome, mimicking chronic thromboembolic pulmonary hypertension. The patient was treated with balloon angioplasty and stent implantation. Short-term follow-up showed a good clinical result with excellent patency of the stents but early restenosis of the segments in which only balloon angioplasty was performed. These stenoses were subsequently also treated successfully by stent implantation. Stent patency was observed 3 years after the first procedure

  2. Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience.

    Science.gov (United States)

    Fricke, Tyson A; d'Udekem, Yves; Brizard, Christian P; Wheaton, Gavin; Weintraub, Robert G; Konstantinov, Igor E

    2015-04-01

    Williams syndrome is an uncommon genetic disorder associated with supravalvular aortic stenosis (SVAS) in childhood. We reviewed outcomes of children with Williams syndrome who underwent repair of SVAS during a 30-year period at a single institution. Between 1982 and 2012, 28 patients with Williams syndrome were operated on for SVAS. Mean age at operation was 5.2 years (range, 3 months to 13 years), and mean weight at operation was 18.6 kg (range, 4.1 to 72.4 kg). Associated cardiac lesions in 11 patients (39.3%) were repaired at the time of the SVAS repair. The most common associated cardiac lesion was main pulmonary artery stenosis (8 of 28 [28%]). A 3-patch repair was performed in 10 patients, a Doty repair in 17, and a McGoon repair in 1 (3.6%). There were no early deaths. Follow-up was 96% complete (27 of 28). Overall mean follow-up was 11.2 years (range, 1 month to 27.3 years). Mean follow-up was 5 years (range, 1 month to 14.3 years) for the 3-patch repair patients and 14.7 years (range, 6 weeks to 27 years) for the Doty repair patients. Of the 17 Doty patients, there were 4 (24%) late deaths, occurring at 6 weeks, 3.5 years, 4 years, and 16 years after the initial operation. There were no late deaths in the 3-patch repair patients. Overall survival was 86% at 5, 10, and 15 years after repair. Survival was 82% at 5, 10 and 15 years for the Doty repair patients. Overall, 6 of 27 patients (22%) patients required late reoperation at a mean of 11.2 years (range, 3.6 to 23 years). No 3-patch repair patients required reoperation. Overall freedom from reoperation was 91% at 5 years and 73% at 10 and 15 years. Freedom from reoperation for the Doty repair patients was 93% at 5 years and 71% at 10 and 15 years. Surgical repair of SVAS in children Williams syndrome has excellent early results. However, significant late mortality and morbidity warrants close follow-up. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights

  3. Recognition of Emotional and Nonemotional Facial Expressions: A Comparison between Williams Syndrome and Autism

    Science.gov (United States)

    Lacroix, Agnes; Guidetti, Michele; Roge, Bernadette; Reilly, Judy

    2009-01-01

    The aim of our study was to compare two neurodevelopmental disorders (Williams syndrome and autism) in terms of the ability to recognize emotional and nonemotional facial expressions. The comparison of these two disorders is particularly relevant to the investigation of face processing and should contribute to a better understanding of social…

  4. False Belief Attribution in Children with Williams Syndrome: The Answer Is in The Emotion

    Science.gov (United States)

    Campos, R.; Martínez-Castilla, P.; Sotillo, M.

    2017-01-01

    Background: Individuals with Williams syndrome (WS) show difficulties in attributing false beliefs, whereas they are better at attributing emotions. This study examines whether being asked about the emotion linked to a false belief, instead of explicitly about the belief, facilitates performance on theory of mind (ToM) tasks. Method: Thirty…

  5. Prosodic Abilities in Spanish and English Children with Williams Syndrome: A Cross-Linguistic Study

    Science.gov (United States)

    Martinez-Castilla, Pastora; Stojanovik, Vesna; Setter, Jane; Sotillo, Maria

    2012-01-01

    The aim of this study was to compare the prosodic profiles of English- and Spanish-speaking children with Williams syndrome (WS), examining cross-linguistic differences. Two groups of children with WS, English and Spanish, of similar chronological and nonverbal mental age, were compared on performance in expressive and receptive prosodic tasks…

  6. Attention to novelty versus repetition: Contrasting habituation profiles in Autism and Williams syndrome

    Directory of Open Access Journals (Sweden)

    Giacomo Vivanti

    2018-01-01

    Full Text Available Background: Abnormalities in habituation have been documented in Autism Spectrum Disorder (ASD and Williams syndrome (WS. Such abnormalities have been proposed to underlie the distinctive social and non-social difficulties that define ASD, including sensory features and repetitive behaviours, and the distinctive social phenotype characterizing WS. Methods: We measured habituation in 39 preschoolers with ASD, 20 peers with WS and 19 typically developing (TD children using an eye-tracking protocol that measured participants’ duration of attention in response to a repeating stimulus and a novel stimulus presented side by side across multiple trials. Results: Participants in the TD group and the WS group decreased their attention toward the repeating stimulus and increased their attention to the novel stimulus over time. Conversely, the ASD group showed a similar attentional response to the novel and repeating stimuli. Habituation was correlated with social functioning in the WS but not in the ASD group. Contrary to predictions, slower habituation in ASD was associated with lower severity of repetitive behaviours. Conclusions: Habituation appears to be intact in WS and impaired in ASD. More research is needed to clarify the nature of the syndrome-specific patterns of correlations between habituation and social and non-social functioning in these neurodevelopmental disorders. Keywords: Habituation, Learning, Eye-tracking, Repetitive behaviours, Social cognition, Autism, Williams syndrome

  7. Syntax in Spanish-speaking children with Williams syndrome.

    Science.gov (United States)

    Benítez-Burraco, Antonio; Garayzábal, Elena; Cuetos, Fernando

    2016-01-01

    The syntactic skills of Spanish-speaking children with Williams syndrome (WS) were assessed in different areas (phrase structure, recursion, and bound anaphora). Children were compared to typically-developing peers matched either in chronological age (CA-TD) or in verbal age (VA-TD). In all tasks children with WS performed significantly worse than CA-TD children, but similarly to VA-TD children. However, significant differences were observed in specific domains, particularly regarding sentences with cross-serial dependencies. At the same time, children with WS were less sensitive to syntactic constraints and exhibited a poorer knowledge of some functional words (specifically, of nonreflexive pronouns). A processing bottleneck or a computational constraint may account for this outcome. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. The Importance of Sleep: Attentional Problems in School-Aged Children With Down Syndrome and Williams Syndrome.

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2015-01-01

    In typically developing (TD) children, sleep problems have been associated with day-time attentional difficulties. Children with developmental disabilities often suffer with sleep and attention problems, yet their relationship is poorly understood. The present study investigated this association in school-aged children with Down syndrome (DS) and Williams syndrome (WS). Actigraphy and pulse oximetry assessed sleep and sleep-disordered breathing respectively, and attention was tested using a novel visual Continuous Performance Task (CPT).Attentional deficits were evident in both disorder groups. In the TD group, higher scores on the CPT were related to better sleep quality, higher oxyhemoglobin saturation (SpO2), and fewer desaturation events. Sleep quality, duration, and SpO2 variables were not related to CPT performance for children with DS and WS.

  9. Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Royston, R.; Howlin, P.; Waite, J.; Oliver, C.

    2017-01-01

    Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these…

  10. Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

    Science.gov (United States)

    Lumaka, Aimé; Lukoo, Rita; Mubungu, Gerrye; Lumbala, Paul; Mbayabo, Gloire; Mupuala, Aimée; Tshilobo, Prosper Lukusa; Devriendt, Koenraad

    2016-03-01

    Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.

  11. Association between Speech-Language, General Cognitive Functioning and Behaviour Problems in Individuals with Williams Syndrome

    Science.gov (United States)

    Rossi, N. F.; Giacheti, C. M.

    2017-01-01

    Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

  12. Caregiver Survey of Pharmacotherapy to Treat Attention Deficit/Hyperactivity Disorder in Individuals with Williams Syndrome

    Science.gov (United States)

    Martens, Marilee A.; Seyfer, Daisha L.; Andridge, Rebecca R.; Foster, Jessica E. A.; McClure, Kelsey E.; Coury, Daniel L.

    2013-01-01

    Williams syndrome (WS) is a genetic condition characterized by a unique neurocognitive and behavioral profile, including increased incidence of attention deficit/hyperactivity disorder (ADHD). The purpose of the present study was to examine the perceived helpfulness and side effects of medications used to treat ADHD (methylphenidate class,…

  13. Lexical-Semantic Reading in a Shallow Orthography: Evidence from a Girl with Williams Syndrome

    Science.gov (United States)

    Barca, Laura; Bello, Arianna; Volterra, Virginia; Burani, Cristina

    2010-01-01

    The reading skills of a girl with Williams Syndrome are assessed by a timed word-naming task. To test the efficiency of lexical and nonlexical reading, we considered four marker effects: Lexicality (better reading of words than nonwords), frequency (better reading of high than low frequency words), length (better reading of short than long words),…

  14. Development of Novel Metaphor and Metonymy Comprehension in Typically Developing Children and Williams Syndrome

    Science.gov (United States)

    Van Herwegen, Jo; Dimitriou, Dagmara; Rundblad, Gabriella

    2013-01-01

    This study investigated the development of novel metaphor and metonymy comprehension in both typically developing (TD) children and individuals with Williams syndrome (WS). Thirty-one TD children between the ages of 3;09 and 17;01 and thirty-four individuals with WS between the ages of 7;01 and 44 years old were administered a newly developed task…

  15. Auditory cortical volumes and musical ability in Williams syndrome.

    Science.gov (United States)

    Martens, Marilee A; Reutens, David C; Wilson, Sarah J

    2010-07-01

    Individuals with Williams syndrome (WS) have been shown to have atypical morphology in the auditory cortex, an area associated with aspects of musicality. Some individuals with WS have demonstrated specific musical abilities, despite intellectual delays. Primary auditory cortex and planum temporale volumes were manually segmented in 25 individuals with WS and 25 control participants, and the participants also underwent testing of musical abilities. Left and right planum temporale volumes were significantly larger in the participants with WS than in controls, with no significant difference noted between groups in planum temporale asymmetry or primary auditory cortical volumes. Left planum temporale volume was significantly increased in a subgroup of the participants with WS who demonstrated specific musical strengths, as compared to the remaining WS participants, and was highly correlated with scores on a musical task. These findings suggest that differences in musical ability within WS may be in part associated with variability in the left auditory cortical region, providing further evidence of cognitive and neuroanatomical heterogeneity within this syndrome. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

  16. Imaging of cardiovascular malformations in Williams syndrome

    International Nuclear Information System (INIS)

    Li Shiguo; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Yan Chaowu; Lu Jinguo

    2008-01-01

    Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

  17. THE SYNTACTICAL ABILITY OF A YOUNG GIRL WITH WILLIAMS SYNDROME

    Directory of Open Access Journals (Sweden)

    Diana ARAPOVIKJ

    2008-06-01

    Full Text Available This research was carried out on a young girl with Williams syndrome, whose syntactical ability was tested longitudinally over a period of 22 months, from age 9 years and 3 months to 11 years and 1 month. The assumption was that the girl with Wil­liams syndrome would have poorer syntactical ability than children with regular development, but similar to children with specific language impair­ment (SLI and that in all tasks she would achieve better results in the final testing. Syntax was ana­lyzed on the basis of the fundamental variable of repeating sentences, which consisted of five sub-variables: literal repetition of sentences, sentences repeated with omissions, ungrammatical repetition of sentences, sentences with altered content, sen­tences not repeated. A statistical difference was found between the syntactical ability of the girl with Williams’ syndrome and children with normal development in all tested sub-variables, and her results were the same as in children with specific language impairment. Moreover, in the final test­ing the girl achieved better results than in the ini­tial test.

  18. Problem Behaviour and Psychosocial Functioning in Young Children with Williams Syndrome: Parent and Teacher Perspectives

    Science.gov (United States)

    Klein-Tasman, B. P.; Lee, K.

    2017-01-01

    Background: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. Methods: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. Results: The most…

  19. Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome

    NARCIS (Netherlands)

    J.W. van Strien (Jan)

    2005-01-01

    textabstractHandedness and eye sighting dominance were assessed in a sample of 50 individuals (25 male, 25 female; aged 5 – 38 years) with Williams-Beuren syndrome (WBS). The prevalences of left-handedness and left-eyedness were compared to the normative prevalences in the general population. We

  20. Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome.

    NARCIS (Netherlands)

    Lameris, A.L.L.; Geesing, C.L.; Hoenderop, J.G.J.; Schreuder, M.F.

    2014-01-01

    Abstract Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by the deletion of 26-28 genes on chromosome 7. Fifteen percent of WBS patients present with hypercalcaemia during infancy, which is generally mild and resolves spontaneously before the age of 4 years. The

  1. 3D PATTERN OF BRAIN ABNORMALITIES IN WILLIAMS SYNDROME VISUALIZED USING TENSOR-BASED MORPHOMETRY

    OpenAIRE

    Chiang, Ming-Chang; Reiss, Allan L.; Lee, Agatha D.; Bellugi, Ursula; Galaburda, Albert M.; Korenberg, Julie R.; Mills, Debra L.; Toga, Arthur W.; Thompson, Paul M.

    2007-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder associated with deletion of ~20 contiguous genes in chromosome band 7q11.23. Individuals with WS exhibit mild to moderate mental retardation, but are relatively more proficient in specific language and musical abilities. We used tensor-based morphometry (TBM) to visualize the complex pattern of gray/white matter reductions in WS, based on fluid registration of structural brain images.

  2. Anxiety in Williams Syndrome: The Role of Social Behaviour, Executive Functions and Change over Time

    Science.gov (United States)

    Ng-Cordell, Elise; Hanley, Mary; Kelly, Alyssa; Riby, Deborah M.

    2018-01-01

    Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links…

  3. Anesthesiological Management of a Patient with Williams Syndrome Undergoing Spine Surgery

    Directory of Open Access Journals (Sweden)

    Federico Boncagni

    2016-01-01

    Full Text Available Williams Syndrome (WS is a complex neurodevelopmental disorder associated with a mutation on chromosome 7. Patients with WS usually display dysmorphic facial and musculoskeletal features, congenital heart diseases, metabolic disturbances and cognitive impairment. Structural cardiovascular abnormalities are present in the majority of the children and may provide a substrate for perioperative Sudden Cardiac Death, as presented by several reports, something that creates a great challenge to the anesthetic conduct. We present the case of a 12-year old girl who required anesthetic care for surgical correction of an acquired kyphoscoliosis. Potential anesthesiological implications of WS are subsequently reviewed.

  4. Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences.

    Science.gov (United States)

    Pérez-García, Débora; Brun-Gasca, Carme; Pérez-Jurado, Luis A; Mervis, Carolyn B

    2017-03-01

    To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than the American sample for all of the higher-order factors and half of both the empirically based and Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales. In contrast, analyses based on country-specific T-scores indicated that the distribution for the Spanish sample was significantly higher than for the American sample only on the Social Problems scale. No gender differences were found. Genetic and cultural influences on children's behavior and cultural influences on parental ratings of behavior are discussed.

  5. Deeper processing is beneficial during episodic memory encoding for adults with Williams syndrome.

    OpenAIRE

    Greer, J.; Hamilton, C.; Riby, D. M.; Riby, L. M.

    2014-01-01

    Previous research exploring declarative memory in Williams syndrome (WS) has revealed impairment in the processing of episodic information accompanied by a relative strength in semantic ability. The aim of the current study was to extend this literature by examining how relatively spared semantic memory may support episodic remembering. Using a level of processing paradigm, older adults with WS (aged 35–61 years) were compared to typical adults of the same chronological age and typically deve...

  6. Neural correlates of amusia in williams syndrome.

    Science.gov (United States)

    Lense, Miriam D; Dankner, Nathan; Pryweller, Jennifer R; Thornton-Wells, Tricia A; Dykens, Elisabeth M

    2014-11-21

    Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, neurodevelopmental disorder with a unique auditory phenotype including auditory sensitivities and increased emotional responsiveness to music but variable musical skill. The current study used structural T1-weighted magnetic resonance imaging and diffusion tensor imaging to examine neural correlates of amusia in 17 individuals with WS (4 of whom met criteria for amusia). Consistent with findings from TD amusics, amusia in WS was associated with decreased fractional anisotropy (FA) in the right superior longitudinal fasciculus (SLF). The relationship between amusia and FA in the inferior component of the SLF was particularly robust, withstanding corrections for cognitive functioning, auditory sensitivities, or musical training. Though the number of individuals with amusia in the study is small, results add to evidence for the role of fronto-temporal disconnectivity in congenital amusia and suggest that novel populations with developmental differences can provide a window into understanding gene-brain-behavior relationships that underlie musical behaviors.

  7. Interpretation of Ambiguous Situations: Evidence for a Dissociation between Social and Physical Threat in Williams Syndrome

    Science.gov (United States)

    Dodd, Helen F.; Porter, Melanie A.

    2011-01-01

    Williams syndrome (WS) is associated with an unusual profile of anxiety, characterised by increased rates of non-social anxiety but not social anxiety (Dodd and Porter, J Ment Health Res Intellect Disabil 2(2):89-109, "2009"). The present research examines whether this profile of anxiety is associated with an interpretation bias for ambiguous…

  8. Neuron density is decreased in the prefrontal cortex in Williams syndrome.

    Science.gov (United States)

    Lew, Caroline Horton; Brown, Chelsea; Bellugi, Ursula; Semendeferi, Katerina

    2017-01-01

    Williams Syndrome (WS) is a rare neurodevelopmental disorder associated with a hemideletion in chromosome 7, which manifests a distinct behavioral phenotype characterized by a hyperaffiliative social drive, in striking contrast to the social avoidance behaviors that are common in Autism Spectrum Disorder (ASD). MRI studies have observed structural and functional abnormalities in WS cortex, including the prefrontal cortex (PFC), a region implicated in social cognition. This study utilizes the Bellugi Williams Syndrome Brain Collection, a unique resource that comprises the largest WS postmortem brain collection in existence, and is the first to quantitatively examine WS PFC cytoarchitecture. We measured neuron density in layers II/III and V/VI of five cortical areas: PFC areas BA 10 and BA 11, primary motor BA 4, primary somatosensory BA 3, and visual area BA 18 in six matched pairs of WS and typically developing (TD) controls. Neuron density in PFC was lower in WS relative to TD, with layers V/VI demonstrating the largest decrease in density, reaching statistical significance in BA 10. In contrast, BA 3 and BA 18 demonstrated a higher density in WS compared to TD, although this difference was not statistically significant. Neuron density in BA 4 was similar in WS and TD. While other cortical areas were altered in WS, prefrontal areas appeared to be most affected. Neuron density is also altered in the PFC of individuals with ASD. Together these findings suggest that the PFC is targeted in neurodevelopmental disorders associated with sociobehavioral alterations. Autism Res 2017, 10: 99-112. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  9. Do Faces Capture the Attention of Individuals with Williams Syndrome or Autism? Evidence from Tracking Eye Movements

    Science.gov (United States)

    Riby, Deborah M.; Hancock, Peter J. B.

    2009-01-01

    The neuro-developmental disorders of Williams syndrome (WS) and autism can reveal key components of social cognition. Eye-tracking techniques were applied in two tasks exploring attention to pictures containing faces. Images were (i) scrambled pictures containing faces or (ii) pictures of scenes with embedded faces. Compared to individuals who…

  10. Parent and Self-Report Ratings on the Perceived Levels of Social Vulnerability of Adults with Williams Syndrome

    Science.gov (United States)

    Lough, Emma; Fisher, Marisa H.

    2016-01-01

    The current study took a multi-informant approach to compare parent to self-report ratings of social vulnerability of adults with Williams syndrome (WS). Participants included 102 pairs of adults with WS and their parents. Parents completed the "Social Vulnerability Questionnaire" and adults with WS completed an adapted version of the…

  11. Musical learning in children and adults with Williams syndrome.

    Science.gov (United States)

    Lense, M; Dykens, E

    2013-09-01

    There is recent interest in using music making as an empirically supported intervention for various neurodevelopmental disorders due to music's engagement of perceptual-motor mapping processes. However, little is known about music learning in populations with developmental disabilities. Williams syndrome (WS) is a neurodevelopmental genetic disorder whose characteristic auditory strengths and visual-spatial weaknesses map onto the processes used to learn to play a musical instrument. We identified correlates of novel musical instrument learning in WS by teaching 46 children and adults (7-49 years) with WS to play the Appalachian dulcimer. Obtained dulcimer skill was associated with prior musical abilities (r = 0.634, P learning strategies, but not visual or instructional strategies, predicted greater dulcimer skill beyond individual musical and visual-motor integration abilities (β = 0.285, sr(2) = 0.06, P = 0.019). These findings map onto behavioural and emerging neural evidence for greater auditory-motor mapping processes in WS. Results suggest that explicit awareness of task-specific learning approaches is important when learning a new skill. Implications for using music with populations with syndrome-specific strengths and weakness will be discussed. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.

  12. Route-Learning Strategies in Typical and Atypical Development; Eye Tracking Reveals Atypical Landmark Selection in Williams Syndrome

    Science.gov (United States)

    Farran, E. K.; Formby, S.; Daniyal, F.; Holmes, T.; Van Herwegen, J.

    2016-01-01

    Background: Successful navigation is crucial to everyday life. Individuals with Williams syndrome (WS) have impaired spatial abilities. This includes a deficit in spatial navigation abilities such as learning the route from A to B. To-date, to determine whether participants attend to landmarks when learning a route, landmark recall tasks have been…

  13. Effect of Musical Experience on Verbal Memory in Williams Syndrome: Evidence from a Novel Word Learning Task

    Science.gov (United States)

    Martens, Marilee A.; Jungers, Melissa K.; Steele, Anita L.

    2011-01-01

    Williams syndrome (WS) is a neurogenetic developmental disorder characterized by an increased affinity for music, deficits in verbal memory, and atypical brain development. Music has been shown to improve verbal memory in typical individuals as well as those with learning difficulties, but no studies have examined this relationship in WS. The aim…

  14. Neural Correlates of Amusia in Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Miriam D. Lense

    2014-11-01

    Full Text Available Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD populations, amusia has recently been documented in Williams syndrome (WS, a genetic, neurodevelopmental disorder with a unique auditory phenotype including auditory sensitivities and increased emotional responsiveness to music but variable musical skill. The current study used structural T1-weighted magnetic resonance imaging and diffusion tensor imaging to examine neural correlates of amusia in 17 individuals with WS (4 of whom met criteria for amusia. Consistent with findings from TD amusics, amusia in WS was associated with decreased fractional anisotropy (FA in the right superior longitudinal fasciculus (SLF. The relationship between amusia and FA in the inferior component of the SLF was particularly robust, withstanding corrections for cognitive functioning, auditory sensitivities, or musical training. Though the number of individuals with amusia in the study is small, results add to evidence for the role of fronto-temporal disconnectivity in congenital amusia and suggest that novel populations with developmental differences can provide a window into understanding gene-brain-behavior relationships that underlie musical behaviors.

  15. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

    NARCIS (Netherlands)

    Wouters, C. H.; Meijers-Heijboer, H. J.; Eussen, B. J.; van der Heide, A. A.; van Luijk, R. B.; van Drunen, E.; Beverloo, B. B.; Visscher, F.; van Hemel, J. O.

    2001-01-01

    We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22.

  16. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

    Science.gov (United States)

    Tordjman, Sylvie; Anderson, George M; Botbol, Michel; Toutain, Annick; Sarda, Pierre; Carlier, Michèle; Saugier-Veber, Pascale; Baumann, Clarisse; Cohen, David; Lagneaux, Céline; Tabet, Anne-Claude; Verloes, Alain

    2012-01-01

    Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism.

  17. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease

    NARCIS (Netherlands)

    Stasia, Marie J.; Mollin, Michele; Martel, Cecile; Satre, Veronique; Coutton, Charles; Amblard, Florence; Vieville, Gaelle; van Montfrans, Joris M.; Boelens, Jaap J.; Veenstra-Knol, Hermine E.; van Leeuwen, Karen; de Boer, Martin; Brion, Jean-Paul; Roos, Dirk

    2013-01-01

    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47(phox) protein, a component of the leukocyte NADPH

  18. Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome.

    Science.gov (United States)

    Danielsson, Henrik; Henry, Lucy; Messer, David; Carney, Daniel P J; Rönnberg, Jerker

    2016-08-01

    This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

    Science.gov (United States)

    Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

    2015-01-01

    In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

  20. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

  1. 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

    OpenAIRE

    Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

    2012-01-01

    Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion...

  2. Peri-procedural risk stratification and management of patients with Williams syndrome.

    Science.gov (United States)

    Collins Ii, R Thomas; Collins, Margaret G; Schmitz, Michael L; Hamrick, Justin T

    2017-03-01

    Williams syndrome (WS) is a congenital, multisystem disorder affecting the cardiovascular, connective tissue, and central nervous systems in 1 in 10 000 live births. Cardiovascular involvement is the most common cause of morbidity and mortality in patients with WS, and noninvasive and invasive procedures are common. Sudden cardiovascular collapse in patients with WS is a well-known phenomenon, especially in the peri-procedural period. Detailed guidelines for peri-procedural management of patients with WS are limited. The goal of this review is to provide thoughtful, safe and effective management strategies for the peri-procedural care of patients with WS with careful consideration of hemodynamic impacts of anesthetic strategies. In addition, an expanded risk stratification system for anesthetic administration is provided. © 2017 Wiley Periodicals, Inc.

  3. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.

    Science.gov (United States)

    Viana, Melissa Machado; Frasson, Maria; Galvão, Henrique; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; da Silva Cunha, Pricila; Burle de Aguiar, Marcos José

    2015-01-01

    Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features. Sixteen patients with confirmed WBS went through thorough ophthalmologic examination. The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%). This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

  4. Violations of Personal Space in Young People with Autism Spectrum Disorders and Williams Syndrome: Insights from the Social Responsiveness Scale

    Science.gov (United States)

    Lough, Emma; Hanley, Mary; Rodgers, Jacqui; South, Mikle; Kirk, Hannah; Kennedy, Daniel P.; Riby, Deborah M.

    2015-01-01

    Interpersonal distance regulation is crucial for successful social interactions. We investigated personal space awareness in Williams syndrome (WS) and autism spectrum disorder (ASD) compared to typical development. Parents reported that individuals with WS and ASD were significantly more likely than those developing typically to invade the…

  5. Dissociation of spatial memory systems in Williams syndrome.

    Science.gov (United States)

    Bostelmann, Mathilde; Fragnière, Emilie; Costanzo, Floriana; Di Vara, Silvia; Menghini, Deny; Vicari, Stefano; Lavenex, Pierre; Lavenex, Pamela Banta

    2017-11-01

    Williams syndrome (WS), a genetic deletion syndrome, is characterized by severe visuospatial deficits affecting performance on both tabletop spatial tasks and on tasks which assess orientation and navigation. Nevertheless, previous studies of WS spatial capacities have ignored the fact that two different spatial memory systems are believed to contribute parallel spatial representations supporting navigation. The place learning system depends on the hippocampal formation and creates flexible relational representations of the environment, also known as cognitive maps. The spatial response learning system depends on the striatum and creates fixed stimulus-response representations, also known as habits. Indeed, no study assessing WS spatial competence has used tasks which selectively target these two spatial memory systems. Here, we report that individuals with WS exhibit a dissociation in their spatial abilities subserved by these two memory systems. As compared to typically developing (TD) children in the same mental age range, place learning performance was impaired in individuals with WS. In contrast, their spatial response learning performance was facilitated. Our findings in individuals with WS and TD children suggest that place learning and response learning interact competitively to control the behavioral strategies normally used to support human spatial navigation. Our findings further suggest that the neural pathways supporting place learning may be affected by the genetic deletion that characterizes WS, whereas those supporting response learning may be relatively preserved. The dissociation observed between these two spatial memory systems provides a coherent theoretical framework to characterize the spatial abilities of individuals with WS, and may lead to the development of new learning strategies based on their facilitated response learning abilities. © 2017 Wiley Periodicals, Inc.

  6. Atypical right diaphragmatic hernia (hernia of Morgagni, spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Rashid Farhan

    2009-01-01

    Full Text Available Abstract Introduction Williams syndrome is rare genetic disorder resulting in neurodevelopmental problems. Hernias of the foramen of Morgagni are rare diaphragmatic hernias and they mostly present on the right side, in the anterior mediastinum. They are usually asymptomatic and are difficult to diagnose, especially in patients with learning disabilities. Case presentation This 49-year-old woman with Williams syndrome, cognitive impairment and aortic stenosis presented to physicians with right-sided chest pain. She had previously undergone repair of her right spigelian and epigastric hernia. Her abdominal examination was unremarkable. Chest X-ray suggested right-sided diaphragmatic hernia and pleural effusion for which she received treatment. The computed tomography scan showed a diaphragmatic hernia with some collapse/consolidation of the adjacent lung. Furthermore, the patient had aortic stenosis and was high risk for anaesthesia (ASA grade 3. She underwent successful laparoscopic repair of her congenital diaphragmatic hernia leading to a quick and uneventful postoperative recovery. Conclusion These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen. Diaphragmatic hernia may be the cause of chest pain in these patients. A computed tomography scan helps in early diagnosis, and laparoscopic repair helps in prevention of further complications, and leads to quick recovery especially in patients with learning disabilities. In the presence of significant comorbidities, a less invasive operative procedure with quick recovery becomes advisable.

  7. Grammatical gender vs. natural gender in French Williams syndrome.

    Science.gov (United States)

    Ibernon, Laure; Boloh, Yves

    2010-01-01

    This article reports grammatical gender attribution scores in French Williams participants (N=28, mean chronological age=15.1) in an experiment similar to the classic one from Karmiloff-Smith (1979) where grammatical gender was pitted against natural gender. WS participants massively opted for the masculine gender as the default one, just as MA-controls did. They differed from CA-controls, however, in that they provided fewer sex-based responses. Splitting the WS group into two subgroups did not reveal a shift to sex-based responses similar to the one found in controls. It is argued that this latter difference could plausibly be related to differences in cognitive, lexical or meta-linguistic abilities. Copyright © 2010 Elsevier Ltd. All rights reserved.

  8. The Extent of Working Memory Deficits Associated with Williams Syndrome: Exploration of Verbal and Spatial Domains and Executively Controlled Processes

    Science.gov (United States)

    Rhodes, Sinead M.; Riby, Deborah M.; Fraser, Emma; Campbell, Lorna Elise

    2011-01-01

    The present study investigated verbal and spatial working memory (WM) functioning in individuals with the neuro-developmental disorder Williams syndrome (WS) using WM component tasks. While there is strong evidence of WM impairments in WS, previous research has focused on short-term memory and has neglected assessment of executive components of…

  9. The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population.

    Science.gov (United States)

    Procyshyn, Tanya L; Spence, Jason; Read, Silven; Watson, Neil V; Crespi, Bernard J

    2017-04-01

    The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I ( general transcription factor II-I ), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity. Participants' salivary oxytocin levels were measured before and after watching a validated empathy-inducing video. Oxytocin reactivity, defined as pre- to post-video percentage change in salivary oxytocin, varied substantially and significantly between individuals with different GTF2I genotypes, with, additionally, a trend towards an interaction between genotype and sex. Individuals with more oxytocin-reactive genotypes also reported significantly lower social anxiety. These findings suggest a model whereby GTF2I has a continuum of effects on human sociality, from the extreme social phenotypes and oxytocin dysregulation associated with gene deletion in Williams syndrome, to individual differences in oxytocin reactivity and sociality associated with common polymorphisms in healthy populations. © 2017 The Author(s).

  10. Narrative competence in Spanish-speaking adults with Williams syndrome.

    Science.gov (United States)

    Diez-Itza, Eliseo; Martínez, Verónica; Antón, Aránzazu

    2016-08-01

    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. 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. WS subjects were able to remember a significant proportion of the events from the film, but coherence of narratives, i.e., sequential order of events, was more impaired. Consistently with their linguistic abilities, cohesion of narratives was better preserved, as they used discourse markers to introduce a high proportion of events. Construction of mental models of the narratives may be constrained in WS by non-verbal cognitive abilities, but narrative competence is also determined by textual pragmatic abilities to organize discourse, which should be addressed by specific intervention in narrative competence.

  11. Patterns of Sensitivity to Emotion in Children with Williams Syndrome and Autism: Relations between Autonomic Nervous System Reactivity and Social Functioning

    Science.gov (United States)

    Järvinen, Anna; Ng, Rowena; Crivelli, Davide; Neumann, Dirk; Grichanik, Mark; Arnold, Andrew J.; Lai, Philip; Trauner, Doris; Bellugi, Ursula

    2015-01-01

    Williams syndrome (WS) and autism spectrum disorder (ASD) are associated with atypical social-emotional functioning. Affective visual stimuli were used to assess autonomic reactivity and emotion identification, and the social responsiveness scale was used to determine the level social functioning in children with WS and ASD contrasted with typical…

  12. Pragmatic Language Assessment in Williams Syndrome: A Comparison of the Test of Pragmatic Language--2 and the Children's Communication Checklist--2

    Science.gov (United States)

    Hoffmann, Anne; Martens, Marilee A.; Fox, Robert; Rabidoux, Paula; Andridge, Rebecca

    2013-01-01

    Purpose: Individuals with Williams syndrome (WS) are recognized as having a strong desire for social relationships, yet many of them have difficulty forming and maintaining peer relationships. One cause may be impairments in pragmatic language. The current study compared the assessment of pragmatic language skills in individuals with WS using the…

  13. Fluorescent in situ hybridization (FISH as a diagnostic tool for Williams-Beuren syndrome

    Directory of Open Access Journals (Sweden)

    Deise Helena de Souza

    2007-01-01

    Full Text Available Fluorescent in situ hybridization (FISH with commercial probes covering the elastin gene (ELN was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS. A de novo deletion was detected in 15 of the children (83%. Diagnostic investigation for WBS started late in childhood (median = 5.8 years. All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13, cardiovascular disease (n = 9, loquacity (n = 9, low birthweight (n = 8, and failure to thrive (n = 9 were observed only in those children with the deletion. Respiratory problems (n = 9, though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.

  14. Stress, Locus of Control, and Family Cohesion and Adaptability in Parents of Children with Down, Williams, Fragile X, and Prader-Willi Syndromes

    Science.gov (United States)

    Lanfranchi, Silvia; Vianello, Renzo

    2012-01-01

    The present study analyzes differences in parental stress in families of children with Down, Williams, Fragile X, and Prader-Willi syndromes, exploring factors that influence parental stress, such as child's characteristics, parental locus of control, and family cohesion and adaptability. Differences between mothers and fathers are also…

  15. Assessment of the Influence of Background Noise on Escape-Maintained Problem Behavior and Pain Behavior in a Child with Williams Syndrome.

    Science.gov (United States)

    O'Reilly, Mark F.; Lacey, Claire; Lancioni, Giulio E.

    2000-01-01

    A study examined the influence of background noise on levels of problem behavior and pain behavior under functional analysis conditions for a 5-year-old with Williams syndrome and hyperacusis. When the child was fitted with earplugs, there were substantial decreases in both problem and pain behavior under the background noise condition. (Contains…

  16. Writing abilities in intellectual disabilities: a comparison between Down and Williams syndrome.

    Science.gov (United States)

    Varuzza, Cristiana; De Rose, Paola; Vicari, Stefano; Menghini, Deny

    2015-02-01

    Writing is a complex task that requires the integration of multiple cognitive, linguistic, and motor abilities. Until now, only a few studies investigated writing abilities in individuals with Intellectual Disability (ID). The aim of the present exploratory study was to provide knowledge on the organization of writing in two populations with ID, Down syndrome (DS) and Williams syndrome (WS), trying to disentangle different components of the process. A battery tapping diverse writing demands as low-level transcription skills as well as high-level writing skills was proposed to 13 individuals with WS, 12 individuals with DS and 11 mental-age-matched typically developing (TD) children. Results showed that the two groups with genetic syndromes did not differ from TD in writing a list of objects placed in bedroom, in the number of errors in the text composition, in a text copying task and in kind of errors made. However, in a word dictation task, individuals with DS made more errors than individuals with WS and TD children. In a pseudoword dictation task, both individuals with DS and WS showed more errors than TD children. Our results showed good abilities in individuals with ID in different aspects of writing, involving not only low-level transcription skills but also high-level composition skills. Contrary to the pessimistic view, considering individuals with ID vulnerable for failure, our results indicate that the presence of ID does not prevent the achievement of writing skills. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. Capacity to improve fine motor skills in Williams syndrome.

    Science.gov (United States)

    Berencsi, A; Gombos, F; Kovács, I

    2016-10-01

    Individuals with Williams syndrome (WS) are known to have difficulties in carrying out fine motor movements; however, a detailed behavioural profile of WS in this domain is still missing. It is also unknown how great the capacity to improve these skills with focused and extensive practice is. We studied initial performance and learning capacity in a sequential finger tapping (FT) task in WS and in typical development. Improvement in the FT task has been shown to be sleep dependent. WS subjects participating in the current study have also participated in earlier polysomnography studies, although not directly related to learning. WS participants presented with great individual variability. In addition to generally poor initial performance, learning capacity was also greatly limited in WS. We found indications that reduced sleep efficiency might contribute to this limitation. Estimating motor learning capacity and the depth of sleep disorder in a larger sample of WS individuals might reveal important relationships between sleep and learning, and contribute to efficient intervention methods improving skill acquisition in WS. © 2016 The Authors. Journal of Intellectual Disability Research published by MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  18. Longitudinal Assessment of Intellectual Abilities of Children with Williams Syndrome: Multilevel Modeling of Performance on the Kaufman Brief Intelligence Test--Second Edition

    Science.gov (United States)

    Mervis, Carolyn B.; Kistler, Doris J.; John, Angela E.; Morris, Colleen A.

    2012-01-01

    Multilevel modeling was used to address the longitudinal stability of standard scores (SSs) measuring intellectual ability for children with Williams syndrome (WS). Participants were 40 children with genetically confirmed WS who completed the Kaufman Brief Intelligence Test--Second Edition (KBIT-2; A. S. Kaufman & N. L. Kaufman, 2004) 4-7…

  19. Facilitating complex shape drawing in Williams syndrome and typical development.

    Science.gov (United States)

    Hudson, Kerry D; Farran, Emily K

    2013-07-01

    Individuals with Williams syndrome (WS) produce drawings that are disorganised, likely due to an inability to replicate numerous spatial relations between parts. This study attempted to circumvent these drawing deficits in WS when copying complex combinations of one, two and three shapes. Drawing decisions were reduced by introducing a number of facilitators, for example, by using distinct colours and including facilitatory cues on the response sheet. Overall, facilitation improved drawing in the WS group to a comparable level of accuracy as typically developing participants (matched for non-verbal ability). Drawing accuracy was greatest in both groups when planning demands (e.g. starting location, line lengths and changes in direction) were reduced by use of coloured figures and providing easily distinguished and clearly grouped facilitatory cues to form each shape. This study provides the first encouraging evidence to suggest that drawing of complex shapes in WS can be facilitated; individuals with WS might be receptive to remediation programmes for drawing and handwriting. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. Metabolic abnormalities in Williams-Beuren syndrome.

    Science.gov (United States)

    Palacios-Verdú, María Gabriela; Segura-Puimedon, Maria; Borralleras, Cristina; Flores, Raquel; Del Campo, Miguel; Campuzano, Victoria; Pérez-Jurado, Luis Alberto

    2015-04-01

    Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic abnormalities include transient hypercalcaemia of infancy, subclinical hypothyroidism in ∼ 30% of children and impaired glucose tolerance in ∼ 75% of adult individuals. The purpose of this study was to further study metabolic alterations in patients with WBS, as well as in several mouse models, to establish potential candidate genes. We analysed several metabolic parameters in a cohort of 154 individuals with WBS (data available from 69 to 151 cases per parameter), as well as in several mouse models with complete and partial deletions of the orthologous WBS locus, and searched for causative genes and potential modifiers. Triglyceride plasma levels were significantly decreased in individuals with WBS while cholesterol levels were slightly decreased compared with controls. Hyperbilirubinemia, mostly unconjugated, was found in 18.3% of WBS cases and correlated with subclinical hypothyroidism and hypotriglyceridemia, suggesting common pathogenic mechanisms. Haploinsufficiency at MLXIPL and increased penetrance for hypomorphic alleles at the UGT1A1 gene promoter might underlie the lipid and bilirubin alterations. Other disturbances included increased protein and iron levels, as well as the known subclinical hypothyroidism and glucose intolerance. Our results show that several unreported biochemical alterations, related to haploinsufficiency for specific genes at 7q11.23, are relatively common in WBS. The early diagnosis, follow-up and management of these metabolic disturbances could prevent long-term complications in this disorder. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  1. Perceptual learning in Williams syndrome: looking beyond averages.

    Directory of Open Access Journals (Sweden)

    Patricia Gervan

    Full Text Available Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning.

  2. Neurocranial morphology and growth in Williams syndrome.

    Science.gov (United States)

    Axelsson, Stefan; Kjaer, Inger; Heiberg, Arvid; Bjørnland, Tore; Storhaug, Kari

    2005-02-01

    Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, short stature, mental retardation, and behaviour and cognitive characteristics. The aim of this study was to describe the neurocranial morphology and growth in a group of 62 individuals with WS. The neurocranium was analysed on lateral cephalograms and comparisons were made with neurocranial standards from longitudinal data derived from the Oslo University Craniofacial Growth Archive. The size and morphology of the neurocranium in WS subjects differed from controls. Females as a group showed greater differences than males. The posterior cranial base length was shorter in both WS males and females, and the anterior cranial base length was shorter in WS females whereas it was close to normal in the WS male group. The cranial base angle was, however, not different from the control groups. A flattening was seen in the superior aspect of the parietal bone in both WS males and females. In the posterior part of the neurocranium, the prominence of the occipital bone was larger than in the control groups, which was also reflected in a larger total length of the neurocranium. The thickness of the frontal and occipital bones was considerably greater than in the control group. The deviant size and morphology of the neurocranium in WS subjects was already established in the youngest age group and maintained throughout the observation period. The growth pattern of the neurocranium in WS subjects seemed to be similar to that of the control groups, except in a few individuals.

  3. Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

    Science.gov (United States)

    Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

    2017-12-01

    Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017

  4. Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

    Science.gov (United States)

    Guenat, David; Quentin, Samuel; Rizzari, Carmelo; Lundin, Catarina; Coliva, Tiziana; Edery, Patrick; Fryssira, Helen; Bermont, Laurent; Ferrand, Christophe; Soulier, Jean; Borg, Christophe; Rohrlich, Pierre-Simon

    2014-11-07

    Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.

  5. Alternative treatment for open bite Class III malocclusion in a child with Williams-Beuren syndrome

    Directory of Open Access Journals (Sweden)

    Giovanni Modesto Vieira

    2015-02-01

    Full Text Available Williams-Beuren syndrome (WBS is a rare genetic condition that affects approximately 1 in every 20,000 - 50,000 live births. WBS children have specific skeletal deformities, dental malformations and rare lingual muscle dysfunction. The need for orthodontic and orthognathic therapy has arisen and has been considered a real clinical challenge even for experienced professionals, once it requires a complex and individualized treatment plan. This study reports a case of orthopedic expansion of the maxilla, in which a modified facial mask was used for protraction of the maxillary complex associated with clockwise rotation of the maxilla. In addition, special considerations about treatment time and orthopedic outcomes are discussed.

  6. Early Manifestation of Supravalvular Aortic and Pulmonary Artery Stenosis in a Patient with Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Jong Uk Lee

    2016-04-01

    Full Text Available Williams syndrome (WS is a developmental disorder characterized by vascular abnormalities such as thickening of the vascular media layer in medium- and large-sized arteries. Supravalvular aortic stenosis (SVAS and peripheral pulmonary artery stenosis (PPAS are common vascular abnormalities in WS. The natural course of SVAS and PPAS is variable, and the timing of surgery or intervention is determined according to the progression of vascular stenosis. In our patient, SVAS and PPAS showed rapid concurrent progression within two weeks after birth. We report the early manifestation of SVAS and PPAS in the neonatal period and describe the surgical treatment for stenosis relief.

  7. Incontinence in children, adolescents and adults with Williams syndrome.

    Science.gov (United States)

    von Gontard, Alexander; Niemczyk, Justine; Borggrefe-Moussavian, Sorina; Wagner, Catharina; Curfs, Leopold; Equit, Monika

    2016-11-01

    Williams Syndrome (WS) is a microdeletion syndrome (chromosome 7q11.23) characterized by typical facial features, cardiovascular disease, behavioural symptoms, and mild intellectual disability (ID). The aim of this study was to assess the rates of incontinence and psychological problems in persons with WS. 231 individuals with WS were recruited through the German parent support group (52.0% male, mean age 19.4 years). Faecal incontinence (FI) was diagnosed from the age of 4 years and nocturnal enuresis (NE) and daytime urinary incontinence (DUI) of 5 years onwards. The Parental Questionnaire: Enuresis/Urinary Incontinence, the International-Consultation-on-Incontinence-Questionnaire-Pediatric LUTS (ICIQ-CLUTS), as well as the Developmental Behavior Checklist for parents (DBC-P) or for adults (DBC-A) were filled out by parents or caregivers. 17.8% of the sample had NE, 5.9% DUI and 7.6% FI. NE was present in 44.9% of children (4-12 years), 13.5% of teens (13-17y), 3.3% of young adults (18-30y) and in 3.6% of adults (> 30y). DUI (and FI) decreased from 17.9% (21.4%) in children to 0% in adults. 3.5% of the sample had an ICIQ-CLUTS score in the clinical range. 30.5% of children and 22.1% of adults had a clinical DBC score. Children and teens with clinically relevant DBC-P-scores had significantly higher DUI rates. Children with WS have high rates of incontinence and LUTS, which decrease with age. Most adults are continent. NE is the most common subtype. Except for DUI in children, incontinence is not associated with behavioural problems. Screening, assessment and treatment of incontinence in individuals with WS is recommended. Neurourol. Urodynam. 35:1000-1005, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  8. William Carlos Williams’ cubism: The sensory dimension

    Directory of Open Access Journals (Sweden)

    J-L Kruger

    1995-05-01

    Full Text Available In this article the cubism of the American poet William Carlos Williams is discussed as a product of sensory elements combined with techniques derived from the work of the visual artists associated with this style. Through the study o f a number of poems written in the period between 1917 and 1923 it is shown that Williams employs the cubist intersection of sensory planes in particular to create a sensory dimension that not only renews the traditions and mode of poetry, but also reveals the cubist concern with the defamiliarization and foregrounding of fragments of everyday experiences. Ultimately the article is an attempt to indicate Williams’ incorporation o f a sensual dimension in creating a style that achieves modernist presentation revealing an independence from both traditional literary and visual styles.

  9. Assessment of Intellectual and Visuo- Spatial Abilities in Children and Adults with Williams Syndrome / Evaluación de habilidades intelectuales y visuoespaciales de niños y adultos con Síndrome de Williams

    Directory of Open Access Journals (Sweden)

    Maria Cristina Teixeira

    2013-06-01

    Full Text Available The Williams-Beuren syndrome (SWB, also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics are typical faces, supravalvular aortic stenosis, failure to thrive, short stature, transient neonatal hypercalcemia, delayed language, friendly personality, hyperacusis and intellectual disability. The diagnosis of SWB is confirmed by the detection of micro deletion by different techniques of molecular cytogenetics, FISH, MLPA or polymorphic markers. This study assessed the verbal intelligence quotient (IQ and performance and visuospatial skills in children and adults with WBS. The composed group was of 31 WBS patients (19 M and 12 F, whose ages ranged from 9 to 26 years (M 14.45 y. All patients had the diagnosis confirmed molecularly. The tests used were the WISC-III, WAIS-III and Rey-Osterrieth Complex Figure Test. The results indicated a total IQ ranged from 51 to 86 (M 63: 22 with mild intellectual disability, 4 with moderate intellectual disability, 4 borderlines and 1 below the normal media. All patients had marked visual-spatial deficits. The results suggest nonverbal reasoning, visuo-spatial perception, spatial representation, working memory, motor planning and executive functions are very affected in this group.

  10. Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.

    Science.gov (United States)

    Lalli, Matthew A; Jang, Jiwon; Park, Joo-Hye C; Wang, Yidi; Guzman, Elmer; Zhou, Hongjun; Audouard, Morgane; Bridges, Daniel; Tovar, Kenneth R; Papuc, Sorina M; Tutulan-Cunita, Andreea C; Huang, Yadong; Budisteanu, Magdalena; Arghir, Aurora; Kosik, Kenneth S

    2016-04-01

    Williams syndrome (WS) is a neurodevelopmental disorder caused by a genomic deletion of ∼28 genes that results in a cognitive and behavioral profile marked by overall intellectual impairment with relative strength in expressive language and hypersocial behavior. Advancements in protocols for neuron differentiation from induced pluripotent stem cells allowed us to elucidate the molecular circuitry underpinning the ontogeny of WS. In patient-derived stem cells and neurons, we determined the expression profile of the Williams-Beuren syndrome critical region-deleted genes and the genome-wide transcriptional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23. Derived neurons displayed disease-relevant hallmarks and indicated novel aberrant pathways in WS neurons including over-activated Wnt signaling accompanying an incomplete neurogenic commitment. We show that haploinsufficiency of the ATP-dependent chromatin remodeler, BAZ1B, which is deleted in WS, significantly contributes to this differentiation defect. Chromatin-immunoprecipitation (ChIP-seq) revealed BAZ1B target gene functions are enriched for neurogenesis, neuron differentiation and disease-relevant phenotypes. BAZ1B haploinsufficiency caused widespread gene expression changes in neural progenitor cells, and together with BAZ1B ChIP-seq target genes, explained 42% of the transcriptional dysregulation in WS neurons. BAZ1B contributes to regulating the balance between neural precursor self-renewal and differentiation and the differentiation defect caused by BAZ1B haploinsufficiency can be rescued by mitigating over-active Wnt signaling in neural stem cells. Altogether, these results reveal a pivotal role for BAZ1B in neurodevelopment and implicate its haploinsufficiency as a likely contributor to the neurological phenotypes in WS. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Addressing the Educational Needs of Children with Williams Syndrome: A Rather Neglected Area of Research?

    Science.gov (United States)

    Palikara, Olympia; Ashworth, Maria; Van Herwegen, Jo

    2018-04-13

    Williams syndrome (WS) is a rare neurodevelopmental disorder associated with physical health problems, limitations in cognitive abilities and increased risk of mental health difficulties. This profile of complex needs may make it challenging to support children with WS in schools. Surprisingly, in the current international move for inclusion, limited research exists on the educational provision and academic achievements of children with WS, including the non-existing literature on their voices and the perspectives of key stakeholders. This letter calls for additional research on the risk and protective factors associated with the educational outcomes of these children, the perspectives of the children themselves and the development of the evidence-base about the effectiveness of education intervention programs.

  12. Addressing social skills deficits in adults with Williams syndrome.

    Science.gov (United States)

    Fisher, Marisa H; Morin, Lindsay

    2017-12-01

    Individuals with Williams syndrome (WS) are hypersocial; yet, they experience social difficulties and trouble with relationships. This report summarizes findings from three studies examining the social functioning of adults with WS and the feasibility of a social skills training program for adults with WS (SSTP-WS) through the examination of performance on initial lesson plans. Study 1: 114 parents of adults with WS completed the Social Responsiveness Scale-2. Study 2: 10 adults with WS and 12 of their parents participated in focus groups to further describe the deficits identified in Study 1 and to discuss a SSTP-WS. Study 3: 30 adults with WS were randomly assigned to 2 lessons on either conversations or relationships and pre-post change in social skills knowledge was assessed. Study 1 indicates adults with WS experience severe social impairments in social cognition, and mild-moderate impairments in social awareness and social communication. Qualitative results in Study 2 indicate a SSTP-WS should address conversation skills and relationships. In Study 3, participants showed gains in social skills knowledge following completion of lessons. A SSTP-WS may be beneficial for adults with WS. Future research should describe the social needs of individuals with WS at different ages and should further develop a SSTP-WS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli.

    Science.gov (United States)

    Jabbi, M; Chen, Q; Turner, N; Kohn, P; White, M; Kippenhan, J S; Dickinson, D; Kolachana, B; Mattay, V; Weinberger, D R; Berman, K F

    2015-08-18

    Characterizing the molecular mechanisms underlying the heritability of complex behavioral traits such as human anxiety remains a challenging endeavor for behavioral neuroscience. Copy-number variation (CNV) in the general transcription factor gene, GTF2I, located in the 7q11.23 chromosomal region that is hemideleted in Williams syndrome and duplicated in the 7q11.23 duplication syndrome (Dup7), is associated with gene-dose-dependent anxiety in mouse models and in both Williams syndrome and Dup7. Because of this recent preclinical and clinical identification of a genetic influence on anxiety, we examined whether sequence variation in GTF2I, specifically the single-nucleotide polymorphism rs2527367, interacts with trait and state anxiety to collectively impact neural response to anxiety-laden social stimuli. Two hundred and sixty healthy adults completed the Tridimensional Personality Questionnaire Harm Avoidance (HA) subscale, a trait measure of anxiety proneness, and underwent functional magnetic resonance imaging (fMRI) while matching aversive (fearful or angry) facial identity. We found an interaction between GTF2I allelic variations and HA that affects brain response: in individuals homozygous for the major allele, there was no correlation between HA and whole-brain response to aversive cues, whereas in heterozygotes and individuals homozygous for the minor allele, there was a positive correlation between HA sub-scores and a selective dorsolateral prefrontal cortex (DLPFC) responsivity during the processing of aversive stimuli. These results demonstrate that sequence variation in the GTF2I gene influences the relationship between trait anxiety and brain response to aversive social cues in healthy individuals, supporting a role for this neurogenetic mechanism in anxiety.

  14. Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome.

    Science.gov (United States)

    Gosch, A; Pankau, R

    1994-12-01

    In children with Williams-Beuren syndrome (WBS), disturbed behaviors (neurotic, antisocial, and hyperactive) [Arnold et al., 1985: Dev Med Child Neurol 27:49-59; Udwin et al., 1987: J Child Psychol Psychiat 28:297-309] have been described. To study the behavior disturbances and social-emotional adjustment in children with WBS, a group of N = 19 patients was compared with a control group, matched for age, gender, and nonverbal reasoning abilities. Parents were asked to assess the children's behavior in terms of a list of 20 items of the Child Behavior Checklist (CBCL) [Achenbach and Edelbrock, 1983: Manual for the Child Behavior Checklist] and the Vineland Social Maturity Scale (VSMS) [Lüer et al., 1972: Kurzform der Vineland Social Maturity Scale]. As compared with the control group, children with WBS differ significantly in their social behavior towards strangers. They exhibit no reserve or distancing behavior and would, for instance, follow a stranger without hesitation. They are described as showing a hypersensitivity to sounds that is more pronounced than in the control group. Finally, they are found to be significantly less well-adjusted socially than the control individuals.

  15. The Drosophila agnostic Locus: Involvement in the Formation of Cognitive Defects in Williams Syndrome.

    Science.gov (United States)

    Nikitina, E A; Medvedeva, A V; Zakharov, G A; Savvateeva-Popova, E V

    2014-04-01

    The molecular basis of the pathological processes that lead to genome disorders is similar both in invertebrates and mammals. Since cognitive impairments in Williams syndrome are caused by LIMK1 hemizygosity, could the spontaneous and mutant variants of the Drosophila limk1 gene serve as a model for studying two diagnostic features from three distinct cognitive defects of the syndrome? These two symptoms are the disturbance of visuospatial orientation and an unusualy strong fixation on the faces of other people during pairwise interaction with a stranger. An experimental approach to the first cognitive manifestation might be an analysis of the locomotor behavior of Drosophila larvae involving visuospatial orientation during the exploration of the surrounding environment. An approach to tackle the second manifestation might be an analysis of the most natural ways of contact between a male and a female during courtship (the first stage of this ritual is the orientation of a male towards a female and following the female with constant fixation on the female's image). The present study of locomotor activity and cognitive repertoire in spontaneous and mutant variants of the Drosophila agnostic locus allows one to bridge alterations in the structure of the limk1 gene and behavior.

  16. Elastins from patients with Williams-Beuren syndrome and healthy individuals differ on the molecular level

    DEFF Research Database (Denmark)

    Heinz, Andrea; Huertas, Angela C Mora; Schräder, Christoph U

    2016-01-01

    Williams-Beuren syndrome (WBS) is a congenital disorder, which involves the heterozygous deletion of the elastin gene and other genes on chromosome 7. Clinical symptoms that are associated with hemizygosity of the essential extracellular matrix protein elastin include premature aging of the skin...... and supravalvular aortic stenosis. However, only little is known about the molecular basis of structural abnormalities in the connective tissue of WBS patients. Therefore, for the first time this study aimed to systematically characterize and compare the structure and amount of elastin present in skin and aortic...... tissue from WBS patients and healthy individuals. Elastin fibers were isolated from tissue biopsies, and it was found that skin of WBS patients contains significantly less elastin compared to skin of healthy individuals. Scanning electron microscopy and mass spectrometric measurements combined...

  17. Unpublished letter from US Geological Survey Scientists to the editor of the New York Times Magazine regarding William J. Broads' November 18, 1990 article on Yucca Mountain

    International Nuclear Information System (INIS)

    Dudley, W.W. Jr.; Buono, A.; Carr, M.D.; Downey, J.S.; Ervin, E.M.; Fox, K.F. Jr.; Gutentag, E.D.; Hayes, L.R.; Jones, B.F.; Luckey, R.R.; Muhs, D.R.; Peterman, Z.E.; Reheis, M.; Spengler, R.W.; Stuckless, J.S.; Taylor, E.M.; Whitney, J.W.; Wilson, W.E.; Winogard, I.J.

    1990-01-01

    This letter documents objections of a group of US Geological Survey Scientists to an article appearing November 18, 1990 in New York Times Magazine. The article was written by William J. Broad and dealt with a hypothesis of Jerry S. Szymanski. The letter addressed areas of concern; including hydrology, geology, tectonics, and the integrity of the scientists and their conclusions. (SM)

  18. Morphological differences in the mirror neuron system in Williams syndrome.

    Science.gov (United States)

    Ng, Rowena; Brown, Timothy T; Erhart, Matthew; Järvinen, Anna M; Korenberg, Julie R; Bellugi, Ursula; Halgren, Eric

    2016-01-01

    Williams syndrome (WS) is a genetic condition characterized by an overly gregarious personality, including high empathetic concern for others. Although seemingly disparate from the profile of autism spectrum disorder (ASD), both are associated with deficits in social communication/cognition. Notably, the mirror neuron system (MNS) has been implicated in social dysfunction for ASD; yet, the integrity of this network and its association with social functioning in WS remains unknown. Magnetic resonance imaging (MRI) methods were used to examine the structural integrity of the MNS of adults with WS versus typically developing (TD) individuals. The Social Responsiveness Scale (SRS), a tool typically used to screen for social features of ASD, was also employed to assess the relationships between social functioning with the MNS morphology in WS participants. WS individuals showed reduced cortical surface area of MNS substrates yet relatively preserved cortical thickness as compared to TD adults. Increased cortical thickness of the inferior parietal lobule (IPL) was associated with increased deficits in social communication, social awareness, social cognition, and autistic mannerisms. However, social motivation was not related to anatomical features of the MNS. Our findings indicate that social deficits typical to both ASD and WS may be attributed to an aberrant MNS, whereas the unusual social drive marked in WS is subserved by substrates distinct from this network.

  19. Pursuing the Panderer: An Analysis of "United States v. Williams"

    Science.gov (United States)

    McGrain, Patrick N.; Moore, Jennifer L.

    2010-01-01

    In May 2008, the Supreme Court addressed whether the government can regulate the ownership and distribution of virtual child pornography. "U.S. v. Williams" marked the first time the Court directly addressed the concept of pandering virtual child pornography. This article examines the Court's decision in "U.S. v. Williams" and…

  20. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

    Science.gov (United States)

    Wojcik, Monica H; Carmichael, Nikkola; Bieber, Frederick R; Wiener, Daniel C; Madan, Rachna; Pober, Barbara R; Raby, Benjamin A

    2017-08-01

    Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to destruction of pulmonary elastic fibers, has been reported in patients without WBS who have pathogenic variants in ELN but only once (in one patient) in WBS. Here we report a second adult WBS patient with emphysema where the diagnosis of WBS was established subsequent to the discovery of severe bullous emphysema. Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS. This case emphasizes the contribution of rare genetic variation in cases of severe emphysema and provides further evidence that emphysema should be considered in patients with WBS who have respiratory symptoms, as it may be under-recognized in this patient population. © 2017 Wiley Periodicals, Inc.

  1. Predictors of specific phobia in children with Williams syndrome.

    Science.gov (United States)

    Pitts, C H; Klein-Tasman, B P; Osborne, J W; Mervis, C B

    2016-10-01

    Specific phobia (SP) is the most common anxiety disorder among children with Williams syndrome (WS); prevalence rates derived from Diagnostic and Statistical Manual of Mental Disorders-based diagnostic interviews range from 37% to 56%. We evaluated the effects of gender, age, intellectual abilities and/or behaviour regulation difficulties on the likelihood that a child with WS would be diagnosed with SP. A total of 194 6-17 year-olds with WS were evaluated. To best characterise the relations between the predictors and the probability of a SP diagnosis, we explored not only possible linear effects but also curvilinear effects. No gender differences were detected. As age increased, the likelihood of receiving a SP diagnosis decreased. As IQ increased, the probability of receiving a SP diagnosis also decreased. Behaviour regulation difficulties were the strongest predictor of a positive diagnosis. A quadratic relation was detected: The probability of receiving a SP diagnosis gradually rose as behaviour regulation difficulties increased. However, once behaviour regulation difficulties approached the clinical range, the probability of receiving a SP diagnosis asymptoted at a high level. Children with behaviour regulation difficulties in or just below the clinical range were at the greatest risk of developing SP. These findings highlight the value of large samples and the importance of evaluating for nonlinear effects to provide accurate model specification when characterising relations among a dependent variable and possible predictors. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  2. The proceedings of the 15th professional conference on Williams Syndrome.

    Science.gov (United States)

    Walton, Jennifer R; Martens, Marilee A; Pober, Barbara R

    2017-05-01

    Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood. © 2017 Wiley Periodicals, Inc.

  3. Emotion Recognition as a Real Strength in Williams Syndrome: Evidence From a Dynamic Non-verbal Task

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    Laure Ibernon

    2018-04-01

    Full Text Available The hypersocial profile characterizing individuals with Williams syndrome (WS, and particularly their attraction to human faces and their desire to form relationships with other people, could favor the development of their emotion recognition capacities. This study seeks to better understand the development of emotion recognition capacities in WS. The ability to recognize six emotions was assessed in 15 participants with WS. Their performance was compared to that of 15 participants with Down syndrome (DS and 15 typically developing (TD children of the same non-verbal developmental age, as assessed with Raven’s Colored Progressive Matrices (RCPM; Raven et al., 1998. The analysis of the three groups’ results revealed that the participants with WS performed better than the participants with DS and also than the TD children. Individuals with WS performed at a similar level to TD participants in terms of recognizing different types of emotions. The study of development trajectories confirmed that the participants with WS presented the same development profile as the TD participants. These results seem to indicate that the recognition of emotional facial expressions constitutes a real strength in people with WS.

  4. Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans.

    Science.gov (United States)

    Boutet, Isabelle; Collin, Charles A; MacLeod, Lindsey S; Messier, Claude; Holahan, Matthew R; Berry-Kravis, Elizabeth; Gandhi, Reno M; Kogan, Cary S

    2018-01-01

    To generate meaningful information, translational research must employ paradigms that allow extrapolation from animal models to humans. However, few studies have evaluated translational paradigms on the basis of defined validation criteria. We outline three criteria for validating translational paradigms. We then evaluate the Hebb-Williams maze paradigm (Hebb and Williams, 1946; Rabinovitch and Rosvold, 1951) on the basis of these criteria using Fragile X syndrome (FXS) as model disease. We focused on this paradigm because it allows direct comparison of humans and animals on tasks that are behaviorally equivalent (criterion #1) and because it measures spatial information processing, a cognitive domain for which FXS individuals and mice show impairments as compared to controls (criterion #2). We directly compared the performance of affected humans and mice across different experimental conditions and measures of behavior to identify which conditions produce comparable patterns of results in both species. Species differences were negligible for Mazes 2, 4, and 5 irrespective of the presence of visual cues, suggesting that these mazes could be used to measure spatial learning in both species. With regards to performance on the first trial, which reflects visuo-spatial problem solving, Mazes 5 and 9 without visual cues produced the most consistent results. We conclude that the Hebb-Williams mazes paradigm has the potential to be utilized in translational research to measure comparable cognitive functions in FXS humans and animals (criterion #3).

  5. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.

    Science.gov (United States)

    Mulle, Jennifer Gladys; Pulver, Ann E; McGrath, John A; Wolyniec, Paula S; Dodd, Anne F; Cutler, David J; Sebat, Jonathan; Malhotra, Dheeraj; Nestadt, Gerald; Conrad, Donald F; Hurles, Matthew; Barnes, Chris P; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F; Gejman, Pablo V; Sanders, Alan R; Duan, Jubao; Mitchell, Adele A; Peter, Inga; Sklar, Pamela; O'Dushlaine, Colm T; Grozeva, Detelina; O'Donovan, Michael C; Owen, Michael J; Hultman, Christina M; Kähler, Anna K; Sullivan, Patrick F; Kirov, George; Warren, Stephen T

    2014-03-01

    Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome. We assayed an Ashkenazi Jewish cohort of 554 SZ cases and 1014 controls for genome-wide CNV. An excess of large rare and de novo CNVs were observed, including a 1.4 Mb duplication on chromosome 7q11.23 identified in two unrelated patients. To test whether this 7q11.23 duplication is also associated with SZ, we obtained data for 14,387 SZ cases and 28,139 controls from seven additional studies with high-resolution genome-wide CNV detection. We performed a meta-analysis, correcting for study population of origin, to assess whether the duplication is associated with SZ. We found duplications at 7q11.23 in 11 of 14,387 SZ cases with only 1 in 28,139 control subjects (unadjusted odds ratio 21.52, 95% confidence interval: 3.13-922.6, p value 5.5 × 10(-5); adjusted odds ratio 10.8, 95% confidence interval: 1.46-79.62, p value .007). Of three SZ duplication carriers with detailed retrospective data, all showed social anxiety and language delay premorbid to SZ onset, consistent with both human studies and animal models of the 7q11.23 duplication. We have identified a new CNV associated with SZ. Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  6. Basal Dendritic Morphology of Cortical Pyramidal Neurons in Williams Syndrome: Prefrontal Cortex and Beyond.

    Science.gov (United States)

    Hrvoj-Mihic, Branka; Hanson, Kari L; Lew, Caroline H; Stefanacci, Lisa; Jacobs, Bob; Bellugi, Ursula; Semendeferi, Katerina

    2017-01-01

    Williams syndrome (WS) is a unique neurodevelopmental disorder with a specific behavioral and cognitive profile, which includes hyperaffiliative behavior, poor social judgment, and lack of social inhibition. Here we examined the morphology of basal dendrites on pyramidal neurons in the cortex of two rare adult subjects with WS. Specifically, we examined two areas in the prefrontal cortex (PFC)-the frontal pole (Brodmann area 10) and the orbitofrontal cortex (Brodmann area 11)-and three areas in the motor, sensory, and visual cortex (BA 4, BA 3-1-2, BA 18). The findings suggest that the morphology of basal dendrites on the pyramidal neurons is altered in the cortex of WS, with differences that were layer-specific, more prominent in PFC areas, and displayed an overall pattern of dendritic organization that differentiates WS from other disorders. In particular, and unlike what was expected based on typically developing brains, basal dendrites in the two PFC areas did not display longer and more branched dendrites compared to motor, sensory and visual areas. Moreover, dendritic branching, dendritic length, and the number of dendritic spines differed little within PFC and between the central executive region (BA 10) and BA 11 that is part of the orbitofrontal region involved into emotional processing. In contrast, the relationship between the degree of neuronal branching in supra- versus infra-granular layers was spared in WS. Although this study utilized tissue held in formalin for a prolonged period of time and the number of neurons available for analysis was limited, our findings indicate that WS cortex, similar to that in other neurodevelopmental disorders such as Down syndrome, Rett syndrome, Fragile X, and idiopathic autism, has altered morphology of basal dendrites on pyramidal neurons, which appears more prominent in selected areas of the PFC. Results were examined from developmental perspectives and discussed in the context of other neurodevelopmental disorders

  7. Basal Dendritic Morphology of Cortical Pyramidal Neurons in Williams Syndrome: Prefrontal Cortex and Beyond

    Directory of Open Access Journals (Sweden)

    Branka Hrvoj-Mihic

    2017-08-01

    Full Text Available Williams syndrome (WS is a unique neurodevelopmental disorder with a specific behavioral and cognitive profile, which includes hyperaffiliative behavior, poor social judgment, and lack of social inhibition. Here we examined the morphology of basal dendrites on pyramidal neurons in the cortex of two rare adult subjects with WS. Specifically, we examined two areas in the prefrontal cortex (PFC—the frontal pole (Brodmann area 10 and the orbitofrontal cortex (Brodmann area 11—and three areas in the motor, sensory, and visual cortex (BA 4, BA 3-1-2, BA 18. The findings suggest that the morphology of basal dendrites on the pyramidal neurons is altered in the cortex of WS, with differences that were layer-specific, more prominent in PFC areas, and displayed an overall pattern of dendritic organization that differentiates WS from other disorders. In particular, and unlike what was expected based on typically developing brains, basal dendrites in the two PFC areas did not display longer and more branched dendrites compared to motor, sensory and visual areas. Moreover, dendritic branching, dendritic length, and the number of dendritic spines differed little within PFC and between the central executive region (BA 10 and BA 11 that is part of the orbitofrontal region involved into emotional processing. In contrast, the relationship between the degree of neuronal branching in supra- versus infra-granular layers was spared in WS. Although this study utilized tissue held in formalin for a prolonged period of time and the number of neurons available for analysis was limited, our findings indicate that WS cortex, similar to that in other neurodevelopmental disorders such as Down syndrome, Rett syndrome, Fragile X, and idiopathic autism, has altered morphology of basal dendrites on pyramidal neurons, which appears more prominent in selected areas of the PFC. Results were examined from developmental perspectives and discussed in the context of other

  8. Who Was the Real William Shakespeare?

    Science.gov (United States)

    Edwards, Michael Todd

    2009-01-01

    This article highlights a project that encourages students to connect reading and mathematics instruction by using a data analysis approach. Students analyze sonnets from statistical, literary, and historical points of view in an effort to uncover the true identity of William Shakespeare. (Contains 10 figures.)

  9. Epistemologia pragmatyczna Michaela Williamsa (PRAGMATIST EPISTEMOLOGY BY MICHAEL WILLIAMS

    Directory of Open Access Journals (Sweden)

    Renata Ziemińska

    2007-06-01

    Full Text Available The article presents three main elements of Williams' epistemology: the concept of knowledge, the problem of skepticism and the concept of truth. Williams takes knowledge not as pure descriptive but partly normative concept (to know is to be engaged and entitled. He rejects the demonstrative conception of knowledge (knowledge is infallible and prefers the fallibilist conception of knowledge (knowledge is uncertain and fallible. Williams is good at bringing skeptical presuppositions to light: the demonstrative conception of knowledge and the conception of justification with Prior Grounding Requirement, epistemological realism and priority for internal knowledge. He rightly observes that when we change that presuppositions (skeptic's context, knowledge does exist. However, Williams-fallibilist is close to a skeptic: they both agree that our beliefs are uncertain. The difference is only whether some of our beliefs deserve to be called knowledge. The most important worries concern Williams' concept of truth (deflationary pragmatism. According to Williams truth has no nature and it is not a goal of inquiry. However, if truth is not a goal, we can hardly understand the previous discussion with skepticism and the defense of rationality.

  10. The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome

    Directory of Open Access Journals (Sweden)

    Thurman Angela John

    2013-02-01

    Full Text Available Abstract Background An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form of learning, referred to as social referencing, is critical for the development of children’s understanding of other people, themselves and their surrounding world. In the present project, the regulatory function of social referencing was examined in two genetic disorders that are characterized by differing patterns of socio-cognitive development: Down syndrome (DS and Williams syndrome (WS. Methods Participants were 20 children with DS and 20 children with WS aged 42 to 71 months, matched on chronological age and gender. Each child participated in four studies: one study in which we examined performance in a social referencing paradigm and three studies in which we considered performance on tasks designed to tap each of three component abilities (initiating eye contact, gaze following and emotional responsivity important for success in social referencing. Results The majority of children in both groups demonstrated positive behavioral responses regarding the stimulus in the Social Referencing task when the adult communicated a joyful message but did not regulate their own behavior in accordance with the adult’s expression of fear. Between-group differences were observed in both conditions, with most differences indicating more advanced socio-communicative competence for children with DS than for children with WS even though the overall intellectual abilities and receptive language abilities of the children with WS were significantly higher than were those of the children with DS. The results of follow-up studies indicated that children with DS were more likely to initiate eye contact (unsolicited and to follow another person’s gaze in triadic situations than were children with WS. Neither group regulated their

  11. A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

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    Devi Dayal

    2017-03-01

    Full Text Available Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS. We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age. An evaluation done to exclude cortisol deficiency before initiating levothyroxine lead to the detection of secondary adrenal insufficiency, unreported previously in WBS. In addition, insulin-like growth factor-1 (IGF-1 and IGF-binding protein-3 levels were low. This report of hypopituitarism in WBS indicates a need for complete evaluation of pituitary dysfunction in children with WBS.

  12. Williams syndrome-specific neuroanatomical profile and its associations with behavioral features.

    Science.gov (United States)

    Fan, Chun Chieh; Brown, Timothy T; Bartsch, Hauke; Kuperman, Joshua M; Hagler, Donald J; Schork, Andrew; Searcy, Yvonne; Bellugi, Ursula; Halgren, Eric; Dale, Anders M

    2017-01-01

    Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile. The predictive performances are robust within the training cohort (10-fold cross-validation, AUC = 1.0) and accurately identify all WS individuals in an independent child WS cohort (seven WS, 59 children with diverse developmental status, AUC = 1.0). The WS-specific neuroanatomical profile includes measurements in the orbitofrontal cortex, superior parietal cortex, Sylvian fissures, and basal ganglia, and variability within these areas related to the underlying size of hemizygous deletion in patients with partial deletions. The profile intensity mediated the overall cognitive impairment as well as personality features related to hypersociability. Our results imply that the unique behaviors in WS were mediated through the constellation of abnormalities in cortical-subcortical circuitry consistent in child WS and adult WS. The robustness of the derived WS-specific neuroanatomical profile also demonstrates the potential utility of our approach in both clinical and research applications.

  13. Adaptive Behavior and Development of Infants and Toddlers with Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Rebecca M. Kirchner

    2016-04-01

    Full Text Available Williams syndrome (WS is a neurodevelopmental disorder that causes deficits in adaptive behavior, difficulties eating and sleeping, cognitive delays, and delayed development. Although researchers have conducted characterizations of children and adults with WS, less is known about young children with this disorder. This study characterizes the developmental and adaptive behavior features of 16 infants and toddlers with WS aged 3 months - 5 years. Data for this project was obtained from 2007-2014, and includes parent report data and standardized developmental testing. Thirty-one percent (31.3% of parents reported that their infant/toddler with WS had sleeping problems and 58.3% reported feeding difficulties. Levels of adaptive behavior were in the Mildly Delayed range as measured by the Adaptive Behavior Assessment System, Second Edition. Self care skills such as feeding or dressing oneself were significantly weaker than skills needed to function in the community, such as recognizing his/her home or throwing away trash. The difficulty with self-care skills is hypothesized to be related to the reported difficulties with eating and sleeping. Motor skills were significantly lower than both cognitive and language skills on the Bayley Scales of Infant and Toddler Development, Third Edition. The current study highlights the need for early intervention in these young children across all areas of development, particularly in self-care skills.

  14. Resting-State Functional Connectivity in Individuals with Down Syndrome and Williams Syndrome Compared with Typically Developing Controls.

    Science.gov (United States)

    Vega, Jennifer N; Hohman, Timothy J; Pryweller, Jennifer R; Dykens, Elisabeth M; Thornton-Wells, Tricia A

    2015-10-01

    The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations of low-frequency (syndrome (DS) compared with another neurodevelopmental disorder, Williams syndrome (WS), and TD. Ten subjects with DS, 18 subjects with WS, and 40 subjects with TD each participated in a 3-Tesla MRI scan. We tested for group differences (DS vs. TD, DS vs. WS, and WS vs. TD) in between- and within-network rsFC connectivity for seven functional networks. For the DS group, we also examined associations between rsFC and other cognitive and genetic risk factors. In DS compared with TD, we observed higher levels of between-network connectivity in 6 out 21 network pairs but no differences in within-network connectivity. Participants with WS showed lower levels of within-network connectivity and no significant differences in between-network connectivity relative to DS. Finally, our comparison between WS and TD controls revealed lower within-network connectivity in multiple networks and higher between-network connectivity in one network pair relative to TD controls. While preliminary due to modest sample sizes, our findings suggest a global difference in between-network connectivity in individuals with neurodevelopmental disorders compared with controls and that such a difference is exacerbated across many brain regions in DS. However, this alteration in DS does not appear to extend to within-network connections, and therefore, the altered between-network connectivity must be interpreted within the framework of an intact intra-network pattern of activity. In contrast, WS shows markedly lower levels of within-network connectivity in the default mode network and somatomotor network relative to controls. These findings warrant further investigation using a task-based procedure that may help disentangle the relationship between brain function and cognitive performance across the spectrum of neurodevelopmental disorders.

  15. Cognitive and behavioral heterogeneity in genetic syndromes

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    Luiz F.L. Pegoraro

    2014-04-01

    Full Text Available OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

  16. Utility of the Hebb–Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans

    Science.gov (United States)

    Boutet, Isabelle; Collin, Charles A.; MacLeod, Lindsey S.; Messier, Claude; Holahan, Matthew R.; Berry-Kravis, Elizabeth; Gandhi, Reno M.; Kogan, Cary S.

    2018-01-01

    To generate meaningful information, translational research must employ paradigms that allow extrapolation from animal models to humans. However, few studies have evaluated translational paradigms on the basis of defined validation criteria. We outline three criteria for validating translational paradigms. We then evaluate the Hebb–Williams maze paradigm (Hebb and Williams, 1946; Rabinovitch and Rosvold, 1951) on the basis of these criteria using Fragile X syndrome (FXS) as model disease. We focused on this paradigm because it allows direct comparison of humans and animals on tasks that are behaviorally equivalent (criterion #1) and because it measures spatial information processing, a cognitive domain for which FXS individuals and mice show impairments as compared to controls (criterion #2). We directly compared the performance of affected humans and mice across different experimental conditions and measures of behavior to identify which conditions produce comparable patterns of results in both species. Species differences were negligible for Mazes 2, 4, and 5 irrespective of the presence of visual cues, suggesting that these mazes could be used to measure spatial learning in both species. With regards to performance on the first trial, which reflects visuo-spatial problem solving, Mazes 5 and 9 without visual cues produced the most consistent results. We conclude that the Hebb–Williams mazes paradigm has the potential to be utilized in translational research to measure comparable cognitive functions in FXS humans and animals (criterion #3). PMID:29643767

  17. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, K; Beck, B; Gyftodimou, J

    1997-01-01

    Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone...... containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients...

  18. Neural correlates of cross-modal affective priming by music in Williams syndrome.

    Science.gov (United States)

    Lense, Miriam D; Gordon, Reyna L; Key, Alexandra P F; Dykens, Elisabeth M

    2014-04-01

    Emotional connection is the main reason people engage with music, and the emotional features of music can influence processing in other domains. Williams syndrome (WS) is a neurodevelopmental genetic disorder where musicality and sociability are prominent aspects of the phenotype. This study examined oscillatory brain activity during a musical affective priming paradigm. Participants with WS and age-matched typically developing controls heard brief emotional musical excerpts or emotionally neutral sounds and then reported the emotional valence (happy/sad) of subsequently presented faces. Participants with WS demonstrated greater evoked fronto-central alpha activity to the happy vs sad musical excerpts. The size of these alpha effects correlated with parent-reported emotional reactivity to music. Although participant groups did not differ in accuracy of identifying facial emotions, reaction time data revealed a music priming effect only in persons with WS, who responded faster when the face matched the emotional valence of the preceding musical excerpt vs when the valence differed. Matching emotional valence was also associated with greater evoked gamma activity thought to reflect cross-modal integration. This effect was not present in controls. The results suggest a specific connection between music and socioemotional processing and have implications for clinical and educational approaches for WS.

  19. Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.

    Science.gov (United States)

    Hills, Jordan A; Zarate, Yuri A; Danylchuk, Noelle R; Lepard, Tiffany; Chen, Jean Chi-Jen; Collins, Ronnie Thomas

    2017-05-01

    Extracardiac arterial stenoses are not uncommon in Williams syndrome (WS); however, data on the utility of advanced cardiovascular imaging (CVI) to assess these stenoses are lacking. We retrospectively reviewed the frequency, indication, and diagnostic outcomes of CVI modalities performed in patients with WS evaluated at a single institution between 2001 and 2014. Data were collected and analyzed from 34 patients (56% female) who underwent CVI during the study period. The median age was 10 years (range 1.8-33 years). Excluding echocardiograms, 78 CVI studies "advanced" were performed in the 34 patients (mean 2.3 studies/patient). The most common advanced CVI was renal ultrasound with Doppler (29/34, 85%), followed by computed tomographic angiography (13/34, 38%) and magnetic resonance angiography in (9/34, 26%). Abnormalities were detected in 62% of patients (21/34). For the 20 patients in whom advanced CVI were performed for defined clinical indications, the rate of abnormalities were 73, 70, 57, and 100% when performed for anatomic delineation (15 patients), hypertension (10 patients), bruits (7 patients), and/or decreased peripheral pulses (2 patients), respectively. Advanced CVI in patients with WS reveals abnormalities in the majority of cases, and physical exam findings frequently indicate abnormalities on advanced CVI. © 2017 Wiley Periodicals, Inc.

  20. Perfil comunicativo de indivíduos com a síndrome de Williams-Beuren Communicative profile of individuals with Williams-Beuren syndrome

    Directory of Open Access Journals (Sweden)

    Natalia Freitas Rossi

    2007-03-01

    Full Text Available OBJETIVO: Descrever o perfil comunicativo de indivíduos com a síndrome de Williams-Beuren. MÉTODOS: A casuística foi composta por 12 indivíduos com a síndrome com idade cronológica entre 6;6 a 23;6 (Grupo 1 que foram comparados a outros 12 sem a síndrome e com idade mental semelhante e sem dificuldades de linguagem/aprendizagem (Grupo 2. Os indivíduos foram avaliados em situação de conversação para classificação dos comportamentos verbais e não-verbais, segundo critérios pragmáticos, levantamento do número de turnos por minuto, enunciados por turno, Extensão Média de Enunciados, levantamento quanto à freqüência e tipologia de disfluências da fala e classificação quanto ao tipo de pausas plenas do discurso. RESULTADOS: O perfil comunicativo do Grupo 1 mostrou facilidade para interagirem em situação de comunicação com a presença de limitações lingüísticas estruturais e funcionais variáveis, quando comparados aos indivíduos do Grupo 2. Os indivíduos do Grupo 1 freqüentemente utilizaram estratégias comunicativas, na tentativa de preencherem o espaço comunicativo, como o uso de clichês, efeitos sonoros, recursos entonacionais e as pausas plenas que mostraram ser favoráveis do ponto de vista sócio-comunicativo, enquanto que os comportamentos verbais ecolálicos e perseverativos prejudicam o desempenho comunicativo desses indivíduos. CONCLUSÃO: O desempenho comunicativo mais prejudicado do Grupo 1 permitiu especular que comprometimentos lingüísticos nesta condição podem estar presentes, independente da diferença entre idade cronológica e mental. Estudos mais abrangentes poderão responder ao questionamento da dissociação de habilidades cognitivas e lingüísticas nesta síndrome e também no que diz respeito à complexa esta correlação em meio aos distúrbios da comunicação humana.PURPOSE: To describe the communicative profile of individuals with Williams-Beuren syndrome. METHODS: The sample

  1. 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

    Science.gov (United States)

    Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert

    2012-06-01

    Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion at 7q11.23, was found to have a de novo 1.7 Mb deletion in the 17q12 region on microarray comparative genomic hybridization. The co-twin was selectively terminated at 23 wk of gestation after being diagnosed with bilateral multicystic dysplastic kidneys and anhydramnios. Review of the literature shows that deletion of chromosome 17q12, encompassing hepatocyte nuclear factor 1beta gene, is associated with cystic renal disease and is the first recurrent genomic deletion associated with maturity onset diabetes of the young. In addition, reports of female reproductive tract malformations and patients with neurocognitive or psychiatric phenotypes have recently been described. This review of the literature summarizes 47 other cases involving 17q12 deletions with wide variability in phenotype, possibly suggesting a contiguous gene syndrome. It is likely that the additional 17q12 deletion has played a role in modifying the phenotype in our patient. This case highlights the importance of using array comparative genomic hybridization in the clinical setting to uncover the etiology of atypical findings in individuals with known microdeletion syndromes.

  2. False belief attribution in children with Williams syndrome: the answer is in the emotion.

    Science.gov (United States)

    Campos, R; Martínez-Castilla, P; Sotillo, M

    2017-11-01

    Individuals with Williams syndrome (WS) show difficulties in attributing false beliefs, whereas they are better at attributing emotions. This study examines whether being asked about the emotion linked to a false belief, instead of explicitly about the belief, facilitates performance on theory of mind (ToM) tasks. Thirty children with WS and 90 typically developing children, who were individually matched on mental age (50-112 months), were administered six explicit (i.e. questions on belief) and six implicit (i.e. questions on emotion) trials of false belief tasks. Theory of mind competences were related to cognitive development. Children with WS performed comparably to typically developing children on the emotion questions. Correct answers to questions on emotion reveal an implicit understanding of false belief. The Representational redescription process could be impaired in the domain of ToM in this population. This finding has relevant implications for the design of supports aiming to optimise the development of ToM competences in individuals with WS. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  3. Pragmatic Abilities of Children with Williams Syndrome: A Longitudinal Examination

    Science.gov (United States)

    John, Angela E.; Dobson, Lauren A.; Thomas, Lauren E.; Mervis, Carolyn B.

    2012-01-01

    Prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS). To further address this aspect of the WS social phenotype, we used an individual differences approach to consider both cross-sectional and longitudinal relations among different pragmatic abilities for 14 children with WS, taking into account individual differences in non-verbal reasoning abilities. We also considered the relations between pragmatic abilities and expressive vocabulary ability. Participants were tested at two time points: as 4-year-olds during a 30-min play session with their mothers (Time 1) and an average of 5.87 years later during a one-on-one conversation with a familiar researcher (Time 2). Children’s intellectual and expressive vocabulary abilities were assessed at both time points. Results indicated that the ability to verbally contribute information beyond what was required in response to a question (ExtendQ) was significantly related to the ability to verbally contribute new information in the absence of a question (ExtendS) both at age 4 years and during primary school. At age 4, both the ability to pair verbalizations with eye contact in triadic interactions (secondary intersubjectivity) and expressive vocabulary ability were related to both ExtendQ and ExtendS. Finally, both ExtendQ and the ability to pair verbalizations with eye contact (intersubjectivity) at age 4 years predicted ExtendQ at age 9–12 years. The theoretical implications of our findings and the importance of early pragmatic language intervention for children who have WS are discussed. PMID:22719734

  4. Cognitive and behavioral heterogeneity in genetic syndromes

    Directory of Open Access Journals (Sweden)

    Luiz F.L. Pegoraro

    2014-03-01

    Full Text Available Objective: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. Methods: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. Results: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. Conclusion: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns. Resumo: Objetivo: investigar o perfil cognitivo e comportamental, sintomas e transtornos psiquiátricos em crianças com três diferentes síndromes genéticas, com antecedentes socioculturais e socioeconômicos semelhantes. Métodos: trinta e quatro

  5. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

    Science.gov (United States)

    Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

    2016-10-01

    Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article.

    Science.gov (United States)

    Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Werneck, Lineu Cesar; Scola, Rosana Herminia

    2018-02-01

    This historical review describes the contribution of Drs. Lee M. Eaton and Edward H. Lambert to the diagnosis of myasthenic syndrome on the 60th anniversary of their pioneering article (JAMA 1957) on the disease. There are important landmarks in their article on a disorder of the neuromuscular junction associated with thoracic neoplasm and the electrophysiological criteria for Lambert-Eaton myasthenic syndrome (LEMS). After 60 years, the main electrophysiological criteria described in Eaton and Lambert's pioneering article are still currently useful in the diagnosis of LEMS.

  7. Florence Jessie Mac Williams (1917-1990)

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 10; Issue 1. Florence Jessie Mac Williams (1917-1990). Featured Scientist Volume 10 Issue 1 January 2005 pp 98-98. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/reso/010/01/0098-0098. Resonance ...

  8. 33 CFR 167.1702 - In Prince William Sound: Prince William Sound Traffic Separation Scheme.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false In Prince William Sound: Prince William Sound Traffic Separation Scheme. 167.1702 Section 167.1702 Navigation and Navigable Waters COAST....1702 In Prince William Sound: Prince William Sound Traffic Separation Scheme. The Prince William Sound...

  9. Williams Sendromu Olan Bireylerin Ailelerinin Deneyimlerinin ve Karşılaştıkları Güçlüklerin Belirlenmesi

    Directory of Open Access Journals (Sweden)

    Deniz Tekin Ersan

    2016-12-01

    Full Text Available Williams Sendromu, belirli bir kromozomda silinme meydana gelmesi ile oluşan nörogelişimsel bir bozukluktur. Görülme sıklığı düşük olan Williams Sendromu ile ilgili yapılmış çalışmalar hem ülkemizde hem de dünyada son derece sınırlıdır. Bu araştırma ile Williams Sendromu olan bireylerin ailelerinin yaşadığı deneyimlerin ve güçlüklerin belirlenmesi amaçlanmaktadır. Araştırmanın modeli nitel araştırma yöntemidir. Araştırmaya beş Williams Sendromu olan bireyin ailesi katılmıştır. Araştırmada veriler, yarı yapılandırılmış görüşme yöntemi ile ve telefon aracılığı ile toplanmıştır. Veriler betimsel analiz ile analiz edilmiştir. Araştırma bulgularına göre; katılımcıların tümünün Williams Sendromu olan bir çocuğa sahip olmayı zor bir deneyim olarak değerlendirdikleri, çocuklarının geleceğine yönelik kaygı taşıdıkları gözlenmiştir. Ailelerin yaşadıkları güçlüklere bakıldığında özellikle çocuklarının davranış problemlerine dair yaşanan güçlükler öne çıkmaktadır. Bunun yanında eğitim ve sağlık alanında uzmanların konu ile ilgili bilgisinin yetersizliği, sahip oldukları olumsuz tutumlar ve aynı zamanda verilen hizmetlerin yetersizliği ile ilgili görüşler öne çıkmaktadır. Ek olarak, kaynakların azlığı ve bilgiye ulaşmanın zorluğuna ilişkin bulgular da elde edilmiştir. Williams Syndrome is a neuro-developmental disorder, which is caused by a deletion in a certain chromosome. Prevalence of Williams Syndrome is low and there is limited number of studies on Williams Syndrome both in our country and abroad. The purpose of this study is to determine experiences and difficulties of parents who have children with Williams Syndrome. It is a qualitative study. Five parents of children with Williams Syndrome were participated in the study. Data collected through semi structured interview via phone calls. Data were analyzed

  10. Dreamers in dialogue: evolution, sex and gender in the utopian visions of William Morris and William Henry Hudson

    Directory of Open Access Journals (Sweden)

    Caterina Novák

    2013-12-01

    Full Text Available The aim of this article is to explore the parallels between two late-nineteenth-century utopias,William Henry Hudsons A Crystal Age (1882 and William Morriss News from Nowhere (1891. Itaims to explore how these two works respond to the transition from a kinetic to a static conception ofutopia that under pressure from evolutionary and feminist discourses took place during the period.Particular focus lies on the way in which this is negotiated through the depiction of evolution, sexuality,and gender roles in the respective novels, and how the depiction of these disruptive elements may workas a means of ensuring the readers active engagement in political, intellectual and emotional terms.

  11. Developmental trajectories of pitch-related music skills in children with Williams syndrome.

    Science.gov (United States)

    Martínez-Castilla, Pastora; Rodríguez, Manuel; Campos, Ruth

    2016-01-01

    The study of music cognition in Williams syndrome (WS) has resulted in theoretical debates regarding cognitive modularity and development. However, no research has previously investigated the development of music skills in this population. In this study, we used the cross-sectional developmental trajectories approach to assess the development of pitch-related music skills in children with WS compared with typically developing (TD) peers. Thus, we evaluated the role of change over time on pitch-related music skills and the developmental relationships between music skills and different cognitive areas. In the TD children, the pitch-related music skills improved with chronological age and cognitive development. In the children with WS, developmental relationships were only found between several pitch-related music skills and specific cognitive processes. We also found non-systematic relationships between chronological age and the pitch-related music skills, stabilization in the level reached in music when cognitive development was considered, and uneven associations between cognitive and music skills. In addition, the TD and WS groups differed in their patterns of pitch-related music skill development. These results suggest that the development of pitch-related music skills in children with WS is atypical. Our findings stand in contrast with the views that claim innate modularity for music in WS; rather, they are consistent with neuroconstructivist accounts. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Evaluation of the influence of clinical symptoms on the quality of life in individuals with Williams-Beuren Syndrome

    Directory of Open Access Journals (Sweden)

    Andrea Parolin Jackowski

    2017-03-01

    Full Text Available Introduction: Williams-Beuren Syndrome (WBS results from a deletion in the chromosome 7q11.23. Psychiatric symptoms, such as Generalized Anxiety Disorder (GAD, Attention Deficit Hyperactivity Disorder (ADHD, and others, have been described in this syndrome. Objective: The main purpose of this study was to identify related clinical symptoms in individuals with WBS and the impact of this disorder in their quality of life. Method: The study sample included 42 individuals aged 11 to 16 years divided into two groups: a study group composed of 20 individuals with WBS and a control group comprising 22 individuals with typical development. The following instruments were used in this evaluation: Brazilian Criterion of Economic Classification (CCEB, to estimate the purchasing power of urban households; Strengths & Difficulties Questionnaire (SDQ, to provide a useful measure of psychopathology applied to children and youth aged 4-17 years; and Quality of Life Evaluation Scale (AUQEI, to assess the feeling of well-being according to the opinion of the child and adolescent. Results: The results suggest that adolescents with WBS have a good quality of life despite presenting greater possibilities of psychiatric symptoms. These results are valid considering that quality of life is measured from the opinion of the assessed individual. Conclusion: We hypothesized that adolescents with WBS can present a distortion of reality regarding the positive/optimistic factor, possibly based on some characteristics of the syndrome such as being always cheerful and smiling, which are factors associated with intellectual disability.

  13. [Architecture of the X chromosome, expression of LIM kinase 1, and recombination in the agnostic mutants of Drosophila: a model of human Williams syndrome].

    Science.gov (United States)

    Savvateeva-Popova, E V; Peresleni, A I; Sharagina, L M; Medvedeva, A V; Korochkina, S E; Grigor'eva, I V; Diuzhikova, N A; Popov, A V; Baricheva, E M; Karagodin, D; Heisenberg, M

    2004-06-01

    As the Human Genome and Drosophila Genome Projects were completed, it became clear that functions of human disease-associated genes may be elucidated by studying the phenotypic expression of mutations affecting their structural or functional homologs in Drosophila. Genomic diseases were identified as a new class of human disorders. Their cause is recombination, which takes place at gene-flanking duplicons to generate chromosome aberrations such as deletions, duplications, inversions, and translocations. The resulting imbalance of the dosage of developmentally important genes arises at a frequency of 10(-3) (higher than the mutation rate of individual genes) and leads to syndromes with multiple manifestations, including cognitive defects. Genomic DNA fragments were cloned from the Drosophila melanogaster agnostic locus, whose mutations impair learning ability and memory. As a result, the locus was exactly localized in X-chromosome region 11A containing the LIM kinase 1 (LIMK1) gene (CG1848), which is conserved among many species. Hemizygosity for the LIMK1 gene, which is caused by recombination at neighboring extended repeats, underlies cognitive disorders in human Williams syndrome. LIMK1 is a component of the integrin signaling cascade, which regulates the functions of the actin cytoskeleton, synaptogenesis, and morphogenesis in the developing brain. Immunofluorescence analysis revealed LIMK1 in all subdomains of the central complex and the visual system of Drosophila melanogaster. Like in the human genome, the D. melanogaster region is flanked by numerous repeats, which were detected by molecular genetic methods and analysis of ectopic chromosome pairing. The repeats determined a higher rate of spontaneous and induced recombination. including unequal crossing over, in the agnostic gene region. Hence, the agnostic locus was considered as the first D. melanogaster model suitable for studying the genetic defect associated with Williams syndrome in human.

  14. Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition.

    Science.gov (United States)

    Osório, Ana A C; Rossi, Natália F; Gonçalves, Óscar F; Sampaio, Adriana; Giacheti, Célia M

    2017-08-01

    Several studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our study aims to expand current knowledge on levels of behavior problems and its links to cognition in a sample of Brazilian individuals with WS. A total of 25 children and adolescents with WS and their parents participated in this study. The participants' IQs were assessed with the Wechsler Scales of Intelligence (for children or adults) and parental reports of psychopathology/behavior problems were collected using the Child Behavior Checklist (CBCL). The presence of clinically significant attention problems was a main feature in our sample of children and adolescents with WS. In the children, higher IQ scores were found to be significantly associated with less externalizing problems, while in the adolescents cognitive abilities were found to be associated with less internalizing symptoms. These results provide further insight into the links between psychopathology and behavior problems and cognitive abilities in WS, and suggest the need to take age into consideration when analyzing such relationships.

  15. Deeper processing is beneficial during episodic memory encoding for adults with Williams syndrome.

    Science.gov (United States)

    Greer, Joanna; Hamiliton, Colin; Riby, Deborah M; Riby, Leigh M

    2014-07-01

    Previous research exploring declarative memory in Williams syndrome (WS) has revealed impairment in the processing of episodic information accompanied by a relative strength in semantic ability. The aim of the current study was to extend this literature by examining how relatively spared semantic memory may support episodic remembering. Using a level of processing paradigm, older adults with WS (aged 35-61 years) were compared to typical adults of the same chronological age and typically developing children matched for verbal ability. In the study phase, pictures were encoded using either a deep (decide if a picture belongs to a particular category) or shallow (perceptual based processing) memory strategy. Behavioural indices (reaction time and accuracy) at retrieval were suggestive of an overall difficulty in episodic memory for WS adults. Interestingly, however, semantic support was evident with a greater recall of items encoded with deep compared to shallow processing, indicative of an ability to employ semantic encoding strategies to maximise the strength of the memory trace created. Unlike individuals with autism who find semantic elaboration strategies problematic, the pattern of findings reported here suggests in those domains that are relatively impaired in WS, support can be recruited from relatively spared cognitive processes. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Anxiety and autonomic response to social-affective stimuli in individuals with Williams syndrome.

    Science.gov (United States)

    Ng, Rowena; Bellugi, Ursula; Järvinen, Anna

    2016-12-01

    Williams syndrome (WS) is a genetic condition characterized by an unusual "hypersocial" personality juxtaposed by high anxiety. Recent evidence suggests that autonomic reactivity to affective face stimuli is disorganised in WS, which may contribute to emotion dysregulation and/or social disinhibition. Electrodermal activity (EDA) and mean interbeat interval (IBI) of 25 participants with WS (19 - 57 years old) and 16 typically developing (TD; 17-43 years old) adults were measured during a passive presentation of affective face and voice stimuli. The Beck Anxiety Inventory was administered to examine associations between autonomic reactivity to social-affective stimuli and anxiety symptomatology. The WS group was characterized by higher overall anxiety symptomatology, and poorer anger recognition in social visual and aural stimuli relative to the TD group. No between-group differences emerged in autonomic response patterns. Notably, for participants with WS, increased anxiety was uniquely associated with diminished arousal to angry faces and voices. In contrast, for the TD group, no associations emerged between anxiety and physiological responsivity to social-emotional stimuli. The anxiety associated with WS appears to be intimately related to reduced autonomic arousal to angry social stimuli, which may also be linked to the characteristic social disinhibition. Copyright © 2016. Published by Elsevier Ltd.

  17. Music lessons are associated with increased verbal memory in individuals with Williams syndrome.

    Science.gov (United States)

    Dunning, Brittany A; Martens, Marilee A; Jungers, Melissa K

    2014-11-16

    Williams syndrome (WS) is a genetic disorder characterized by intellectual delay and an affinity for music. It has been previously shown that familiar music can enhance verbal memory in individuals with WS who have had music training. There is also evidence that unfamiliar, or novel, music may also improve cognitive recall. This study was designed to examine if a novel melody could also enhance verbal memory in individuals with WS, and to more fully characterize music training in this population. We presented spoken or sung sentences that described an animal and its group name to 44 individuals with WS, and then tested their immediate and delayed memory using both recall and multiple choice formats. Those with formal music training (average duration of training 4½ years) scored significantly higher on both the spoken and sung recall items, as well as on the spoken multiple choice items, than those with no music training. Music therapy, music enjoyment, age, and Verbal IQ did not impact performance on the memory tasks. These findings provide further evidence that formal music lessons may impact the neurological pathways associated with verbal memory in individuals with WS, consistent with findings in typically developing individuals. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Children with Williams syndrome: Developmental trajectories for intellectual abilities, vocabulary abilities, and adaptive behavior.

    Science.gov (United States)

    Mervis, Carolyn B; Pitts, C Holley

    2015-06-01

    To examine longitudinal trajectories of intellectual abilities, single-word vocabulary abilities, and adaptive behavior for 76 children with Williams syndrome (WS) aged 4-15 years, we compared their standard scores (SSs) at two time points approximately 3 years apart on the same standardized measures. At the group level, mean SS declined significantly for 8 of the 12 measures and showed a slight (nonsignificant) increase or decrease for 4 measures. However, for most measures significant changes in SS were found for only a small proportion of the children, with some children evidencing significant declines and a smaller proportion evidencing significant increases. Significant SS changes were most common for adaptive behavior. For all measures, the mean magnitude of SS change was smaller for older children (>7.5 years at Time 1) than for younger children (general population peers who earned the same SS at Time 1, there was little evidence either of regression (loss of skills) or stagnation (failure to increase raw scores). The relations of these results to those of previous smaller-sample longitudinal studies of children with WS and the implications of the findings are considered. © 2015 Wiley Periodicals, Inc.

  19. Avaliação da motricidade ampla e fina na Síndrome de Williams: relato de caso Findings of the gross and fine motor in the Syndrome William Case: case Report

    Directory of Open Access Journals (Sweden)

    Marcela Melo Almeida

    2010-12-01

    Full Text Available O presente estudo teve como objetivo analisar os achados da motricidade ampla e fina de uma criança de 8 anos de idade portador da Síndrome de Williams. Foram coletados dados biológicos da criança e da mãe durante a gestação e história pré, peri e pós-natal da criança e suas condições clínicas. O desenvolvimento motor amplo e fino foi avaliado pelo Inventário Portage Operacionalizado. Os resultados demonstraram que a criança revelou maior dificuldade na motricidade fina em relação à ampla, apresentando dificuldades na escrita, em manipular objetos que necessite fazer movimento de pronação e supinação e dificuldade no movimento de pinça.This study aimed to analyze the findings of motor and fine of an 8 years old holder of Williams Syndrome. Data were collected biological child and mother during pregnancy and history of pre, peri and postnatal child and their clinical conditions. The development and fine motor function was assessed by Portage Guide. The results showed that children showed greater difficulty with fine motor skills in relation to gross skills, having difficulty in writing, to manipulate objects that need to make movement of pronation and supination and difficulty in of the pincer movement.

  20. Social functioning and autonomic nervous system sensitivity across vocal and musical emotion in Williams syndrome and autism spectrum disorder.

    Science.gov (United States)

    Järvinen, Anna; Ng, Rowena; Crivelli, Davide; Neumann, Dirk; Arnold, Andrew J; Woo-VonHoogenstyn, Nicholas; Lai, Philip; Trauner, Doris; Bellugi, Ursula

    2016-01-01

    Both Williams syndrome (WS) and autism spectrum disorders (ASD) are associated with unusual auditory phenotypes with respect to processing vocal and musical stimuli, which may be shaped by the atypical social profiles that characterize the syndromes. Autonomic nervous system (ANS) reactivity to vocal and musical emotional stimuli was examined in 12 children with WS, 17 children with ASD, and 20 typically developing (TD) children, and related to their level of social functioning. The results of this small-scale study showed that after controlling for between-group differences in cognitive ability, all groups showed similar emotion identification performance across conditions. Additionally, in ASD, lower autonomic reactivity to human voice, and in TD, to musical emotion, was related to more normal social functioning. Compared to TD, both clinical groups showed increased arousal to vocalizations. A further result highlighted uniquely increased arousal to music in WS, contrasted with a decrease in arousal in ASD and TD. The ASD and WS groups exhibited arousal patterns suggestive of diminished habituation to the auditory stimuli. The results are discussed in the context of the clinical presentation of WS and ASD. © 2015 Wiley Periodicals, Inc.

  1. Bone mineral status and metabolism in patients with Williams-Beuren syndrome.

    Science.gov (United States)

    Stagi, Stefano; Manoni, Cristina; Scalini, Perla; Chiarelli, Francesco; Verrotti, Alberto; Cecchi, Cecilia; Lapi, Elisabetta; Giglio, Sabrina; Romano, Silvia; de Martino, Maurizio

    2016-07-01

    To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores. WBS patients showed a significantly reduced AD-SoS z-score (p <0.001) and BTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher PTH levels (p <0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls. WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients.

  2. Exploring different explanations for performance on a theory of mind task in Williams syndrome and autism using eye movements.

    Science.gov (United States)

    Van Herwegen, Jo; Smith, Tim J; Dimitriou, Dagmara

    2015-01-01

    The current study explored the looking behaviours of young children with Autism Spectrum Disorders (ASD), Williams syndrome (WS), and typically developing (TD) children while they were administered a low-verbal Theory of Mind (ToM) task. Although ToM performance in both clinical groups was impaired, only participants with WS showed small differences in looking behaviour at the start of the video. Furthermore, while TD children who passed the ToM task looked longer at the original hiding place there was no such contrast in the clinical groups. This shows that looking behaviour in ASD and WS is not necessarily atypical when saliency aspects such as language, background, and colour are removed and that differences in looking behaviour cannot explain ToM performance. Copyright © 2015 Elsevier Ltd. All rights reserved.

  3. Pragmatic Abilities of Children with Williams Syndrome: A Longitudinal Examination

    Directory of Open Access Journals (Sweden)

    Angela E. John

    2012-06-01

    Full Text Available Although prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS, the relations among different pragmatic abilities and the relations between pragmatic ability and expressive vocabulary ability have yet to be addressed. In addition, analyses of the relations between the same type of pragmatic ability over time have not been reported. The present study was designed to address these questions. We considered the pragmatic language abilities of 14 children with WS at two time points: as 4-year-olds during a 30-minute play-session with their mothers (Time 1 and an average of 5.87 years later during a one-on-one conversation with a familiar researcher (Time 2. Children’s intellectual and expressive vocabulary abilities were assessed at both time points. Results indicated that the ability to verbally contribute information beyond what was required in response to a question was significantly related to the ability to verbally contribute new information in the absence of a question both at age 4 years and during primary school. At age 4, both the ability to pair verbalizations with eye contact (intersubjectivity and expressive vocabulary ability were related to the ability to verbally contribute information beyond what was expected within a social interaction. Finally, the ability to verbally contribute new information to a social interaction beyond what was required to answer a question and the ability to pair verbalizations with eye contact (intersubjectivity at age 4 years predicted the ability to verbally contribute new information beyond what was required to answer a question at age 9 – 12 years. The theoretical implications of our findings and the importance of early pragmatic language intervention for children who have WS are discussed.

  4. Application of Choi—Williams Reduced Interference Time Frequency Distribution to Machinery Diagnostics

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    Howard A. Gaberson

    1995-01-01

    Full Text Available This article discusses time frequency analysis of machinery diagnostic vibration signals. The short time Fourier transform, the Wigner, and the Choi–Williams distributions are explained and illustrated with test cases. Examples of Choi—Williams analyses of machinery vibration signals are presented. The analyses detect discontinuities in the signals and their timing, amplitude and frequency modulation, and the presence of different components in a vibration signal.

  5. Free recall in Williams syndrome: is there a dissociation between short- and long-term memory?

    Science.gov (United States)

    Brock, Jon; Brown, Gordon D A; Boucher, Jill

    2006-04-01

    Two experiments used the free recall paradigm to investigate verbal memory abilities in Williams syndrome (WS)--a rare genetic disorder. In an earlier free recall study, Vicari et al. (1996a) reported that, unlike TD controls, children with WS showed a recency effect but failed to show a primacy effect. These authors interpreted their findings as evidence for a dissociation between relatively strong verbal short-term memory and relatively impaired verbal long-term memory. In Experiment 1 of the current study, children with WS and TD controls showed comparable improvements in performance with repeated testing of the same material, indicating similar long-term learning of the test items. Neither group showed evidence of primacy effects. However, the extent of primacy effects in free recall is known to depend on the rehearsal strategy that participants adopt. In Experiment 2, therefore, participants were encouraged to engage in overt cumulative rehearsal. This manipulation resulted in significant and comparable primacy effects in both groups, although neither group demonstrated a significant change in overall performance. There was therefore no evidence from either experiment for a dissociation between short- and long-term verbal memory in WS.

  6. Síndrome de Williams-Beuren. Enfoque diagnóstico a través del fenotipo

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    María Angelina Lacruz-Rengel

    2015-10-01

    Full Text Available Resumen (español El síndrome de Williams-Beuren es un trastorno genético del desarrollo neurológico que incluye diferentes manifestaciones clínicas como retardo en el crecimiento e intelectual, cardiopatía congénita y rasgo facial distintivo. El objetivo de este estudio es describir las características clínicas que conducen a su diagnóstico, conocer su evolución fenotípica y las medidas terapéuticas adecuadas. Se realizó un estudio retrospectivo, descriptivo, tipo serie de casos, en el que se incluyeron todos los pacientes con el diagnóstico de síndrome de Williams-Beuren, evaluados en el Instituto Autónomo Hospital Universitario de Los Andes, durante enero de 2000 a junio de 2014. El principal motivo de consulta fue la presencia de dismorfía facial y cardiopatía congénita, en la totalidad de los casos. La estenosis de la arteria pulmonar bilateral fue el tipo de cardiopatía congénita más frecuente en 4/7 pacientes. El síndrome de Williams-Beuren es una entidad genética que muestra un amplio espectro de características clínicas. Conocer todos estos hallazgos permite realizar el diagnóstico, ofrecer una adecuada atención médica, psicoterapéutica y educativa que permite mejorar su calidad de vida, sobrevida e inserción a la sociedad Abstract (english Williams-Beuren syndrome is a genetic neurodevelopmental disorder that includes different clinical manifestations as growth retardation and intellectual, congenital heart disease and distinctive facial features. The aim of this study was to describe the clinical features that leading to their diagnosis, know their phenotypic evolution and provide appropriate treatment. A retrospective, descriptive case series study, which included all patients with a diagnosis of Williams-Beuren syndrome, evaluated in the Autonomous Institute University Hospital of Los Andes, from January 2000 to June 2014 was performed. The main complaint was the presence of facial dysmorphic and

  7. Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndrome.

    Science.gov (United States)

    Wengenroth, Martina; Blatow, Maria; Bendszus, Martin; Schneider, Peter

    2010-08-23

    Individuals with the rare genetic disorder Williams-Beuren syndrome (WS) are known for their characteristic auditory phenotype including strong affinity to music and sounds. In this work we attempted to pinpoint a neural substrate for the characteristic musicality in WS individuals by studying the structure-function relationship of their auditory cortex. Since WS subjects had only minor musical training due to psychomotor constraints we hypothesized that any changes compared to the control group would reflect the contribution of genetic factors to auditory processing and musicality. Using psychoacoustics, magnetoencephalography and magnetic resonance imaging, we show that WS individuals exhibit extreme and almost exclusive holistic sound perception, which stands in marked contrast to the even distribution of this trait in the general population. Functionally, this was reflected by increased amplitudes of left auditory evoked fields. On the structural level, volume of the left auditory cortex was 2.2-fold increased in WS subjects as compared to control subjects. Equivalent volumes of the auditory cortex have been previously reported for professional musicians. There has been an ongoing debate in the neuroscience community as to whether increased gray matter of the auditory cortex in musicians is attributable to the amount of training or innate disposition. In this study musical education of WS subjects was negligible and control subjects were carefully matched for this parameter. Therefore our results not only unravel the neural substrate for this particular auditory phenotype, but in addition propose WS as a unique genetic model for training-independent auditory system properties.

  8. Leftward lateralization of auditory cortex underlies holistic sound perception in Williams syndrome.

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    Martina Wengenroth

    Full Text Available BACKGROUND: Individuals with the rare genetic disorder Williams-Beuren syndrome (WS are known for their characteristic auditory phenotype including strong affinity to music and sounds. In this work we attempted to pinpoint a neural substrate for the characteristic musicality in WS individuals by studying the structure-function relationship of their auditory cortex. Since WS subjects had only minor musical training due to psychomotor constraints we hypothesized that any changes compared to the control group would reflect the contribution of genetic factors to auditory processing and musicality. METHODOLOGY/PRINCIPAL FINDINGS: Using psychoacoustics, magnetoencephalography and magnetic resonance imaging, we show that WS individuals exhibit extreme and almost exclusive holistic sound perception, which stands in marked contrast to the even distribution of this trait in the general population. Functionally, this was reflected by increased amplitudes of left auditory evoked fields. On the structural level, volume of the left auditory cortex was 2.2-fold increased in WS subjects as compared to control subjects. Equivalent volumes of the auditory cortex have been previously reported for professional musicians. CONCLUSIONS/SIGNIFICANCE: There has been an ongoing debate in the neuroscience community as to whether increased gray matter of the auditory cortex in musicians is attributable to the amount of training or innate disposition. In this study musical education of WS subjects was negligible and control subjects were carefully matched for this parameter. Therefore our results not only unravel the neural substrate for this particular auditory phenotype, but in addition propose WS as a unique genetic model for training-independent auditory system properties.

  9. Social Cognition in Williams Syndrome: Relations Between Performance on the Social Attribution Task and Cognitive and Behavioral Characteristics

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    Faye eVan der Fluit

    2012-06-01

    Full Text Available Williams syndrome (WS is a developmental disorder of genetic origin, with characteristic cognitive and personality profiles. Studies of WS point to an outgoing and gregarious personality style, often contrasted with autism spectrum disorders (ASDs; however, recent research has uncovered underlying social reciprocity difficulties in people with WS. Participants in the current study included 24 children with WS ages 8 through 15. A lab-based measure of social perception and social cognition was administered (Social Attribution Test, as well as an intellectual functioning measure (KBIT-II and parent reports of communication and reciprocal social skills (Social Communication Questionnaire, Social Responsiveness Scale. Relations between social cognition, cognitive abilities, and social-communication were examined. Results demonstrated relations between parent-reported social reciprocity and the typicality of the responses provided in the lab-based measure, even once variability in intellectual functioning was taken into account. In addition, a significant improvement in performance was seen with the added scaffolding particularly for participants with stronger intellectual functioning.

  10. Are the deficits in navigational abilities present in the Williams syndrome related to deficits in the backward inhibition?

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    Francesca eFoti

    2015-03-01

    Full Text Available Williams syndrome (WS is associated with a distinct profile of relatively proficient skills within the verbal domain compared to the severe impairment of visuo-spatial processing. Abnormalities in executive functions and deficits in planning ability and spatial working memory have been described. However, to date little is known about the influence of executive function deficits on navigational abilities in WS. This study aimed at analyzing in WS individuals a specific executive function, the backward inhibition (BI that allows individuals to flexibly adapt to continuously changing environments. A group of WS individuals and a mental age- and gender-matched group of typically developing (TD children were subjected to three task-switching experiments requiring visuospatial or verbal material to be processed. Results showed that WS individuals exhibited clear BI deficits during visuospatial task-switching paradigms and normal BI effect during verbal task-switching paradigm. Overall, the present results suggest that the BI involvement in updating environment representations during navigation may influence WS navigational abilities.

  11. Explicit Oral Narrative Intervention for Students with Williams Syndrome

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    Eliseo Diez-Itza

    2018-01-01

    Full Text Available Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives were elicited in two sessions (pre and post intervention, and were transcribed, coded and analyzed using the tools of the CHILDES Project. Narratives were coded for productivity and complexity at the microstructure and macrostructure levels. Microstructure productivity (i.e., length of narratives included number of utterances, clauses, and tokens. Microstructure complexity included mean length of utterances, lexical diversity and use of discourse markers as cohesive devices. Narrative macrostructure was assessed for textual coherence through the Pragmatic Evaluation Protocol for Speech Corpora (PREP-CORP. Macrostructure productivity and complexity included, respectively, the recall and sequential order of scenarios, episodes, events and characters. A total of four intervention sessions, lasting approximately 20 min, were delivered individually once a week. This brief intervention addressed explicit instruction about the narrative structure and the use of specific discourse markers to improve cohesion of story retellings. Intervention strategies included verbal scaffolding and modeling, conversational context for retelling the story and visual support with pictures printed from the cartoon. Results showed significant changes in WS students’ retelling of the

  12. Explicit Oral Narrative Intervention for Students with Williams Syndrome

    Science.gov (United States)

    Diez-Itza, Eliseo; Martínez, Verónica; Pérez, Vanesa; Fernández-Urquiza, Maite

    2018-01-01

    Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives were elicited in two sessions (pre and post intervention), and were transcribed, coded and analyzed using the tools of the CHILDES Project. Narratives were coded for productivity and complexity at the microstructure and macrostructure levels. Microstructure productivity (i.e., length of narratives) included number of utterances, clauses, and tokens. Microstructure complexity included mean length of utterances, lexical diversity and use of discourse markers as cohesive devices. Narrative macrostructure was assessed for textual coherence through the Pragmatic Evaluation Protocol for Speech Corpora (PREP-CORP). Macrostructure productivity and complexity included, respectively, the recall and sequential order of scenarios, episodes, events and characters. A total of four intervention sessions, lasting approximately 20 min, were delivered individually once a week. This brief intervention addressed explicit instruction about the narrative structure and the use of specific discourse markers to improve cohesion of story retellings. Intervention strategies included verbal scaffolding and modeling, conversational context for retelling the story and visual support with pictures printed from the cartoon. Results showed significant changes in WS students’ retelling of the story, both at

  13. Continuous cognitive dynamics of the evaluation of trustworthiness in Williams syndrome

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    Marilee A Martens

    2012-06-01

    Full Text Available The decision to approach or avoid an unfamiliar person is based in part on one’s evaluation of facial expressions. Individuals with Williams syndrome (WS are characterized in part by an excessive desire to approach people, but they display deficits in identifying facial emotional expressions. Likert-scale ratings are generally used to examine approachability ratings in WS, but these measures only capture an individual’s final approach/avoid decision. The present study expands on previous research by utilizing mouse-tracking methodology to visually display the nature of approachability decisions via the motor movement of a computer mouse. We recorded mouse movement trajectories while participants chose to approach or avoid computer-generated faces that varied in terms of trustworthiness. We recruited 30 individuals with WS and 30 chronological age-matched controls (mean age = 20 years. Each participant performed 80 trials (20 trials each of four face types: mildly and extremely trustworthy; mildly and extremely untrustworthy. We found that individuals with WS were significantly more likely than controls to choose to approach untrustworthy faces. In addition, the maximum deviation analysis demonstrated that even when ultimately choosing to avoid an untrustworthy face, the individuals with WS were more tempted than controls to deviate toward ‘Approach’ before deciding to ‘Avoid’ the face. We also found that the individuals with WS were more likely to choose to avoid trustworthy faces than controls, which might be associated with the neutral facial expressions displayed by the trustworthy faces. Both the WS and control participants were able to discriminate between mild and extreme degrees of trustworthiness and were more likely to make correct approachability decisions as they grew older. These findings increase our understanding of the cognitive processing that underlies approachability decisions in individuals with WS.

  14. Face repetition detection and social interest: An ERP study in adults with and without Williams syndrome.

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    Key, Alexandra P; Dykens, Elisabeth M

    2016-12-01

    The present study examined possible neural mechanisms underlying increased social interest in persons with Williams syndrome (WS). Visual event-related potentials (ERPs) during passive viewing were used to compare incidental memory traces for repeated vs. single presentations of previously unfamiliar social (faces) and nonsocial (houses) images in 26 adults with WS and 26 typical adults. Results indicated that participants with WS developed familiarity with the repeated faces and houses (frontal N400 response), but only typical adults evidenced the parietal old/new effect (previously associated with stimulus recollection) for the repeated faces. There was also no evidence of exceptional salience of social information in WS, as ERP markers of memory for repeated faces vs. houses were not significantly different. Thus, while persons with WS exhibit behavioral evidence of increased social interest, their processing of social information in the absence of specific instructions may be relatively superficial. The ERP evidence of face repetition detection in WS was independent of IQ and the earlier perceptual differentiation of social vs. nonsocial stimuli. Large individual differences in ERPs of participants with WS may provide valuable information for understanding the WS phenotype and have relevance for educational and treatment purposes.

  15. Local-Global Visual Deficits in Williams Syndrome: Stimulus presence contributes to diminished performance on image-reproduction

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    Ana Maria Abreu

    2006-12-01

    Full Text Available Impairments in visuospatial processing exhibited by individuals with Williams Syndrome (WS have been ascribed to a local processing bias. The imprecise specification of this local bias hypothesis has led to contradictions between different accounts of the visuospatial deficits in WS. We present two experiments investigating visual processing of geometric Navon stimuli by children with WS. The first experiment examined image reproduction in a visuoconstruction task and the second experiment explored the effect of manipulating global salience on recognition of visual stimuli by varying the density of local elements possessed by the stimuli. In the visuoconstruction task, the children with WS did show a local bias with respect to controls, but only when the target being copied was present; when drawing from memory, subjects with WS produced a heterogeneous pattern of answers. In the recognition task, children with WS exhibited the same sensitivity to global figures as matched controls, confirming previous findings in which no local bias in perception was found in WS subjects. We propose that subjects with WS are unable to disengage their attention from local elements during the planning stage of image reproduction (a visual-conflict hypothesis.

  16. Language and emotional abilities in children with Williams syndrome and children with autism spectrum disorder: similarities and differences

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    Lacroix A

    2016-07-01

    Full Text Available Agnès Lacroix,1 Nawelle Famelart,2 Michèle Guidetti2 1Department of Psychology, Center for Research in Psychology, Cognition, and Communication, University of Rennes 2, Rennes, 2CLLE, Université de Toulouse, CNRS, UT2J, France Abstract: Williams syndrome (WS is a genetic disease with a relatively homogeneous profile: relatively well-preserved language, impaired cognitive activities, and hypersociability. Autism spectrum disorder (ASD refers to a group of individuals with impairments in aspects of communication and a particular pattern of language acquisition. Although ASD and WS are polar opposites when it comes to communication abilities (language and emotion and social behavior, comparisons between WS and ASD are still rare in the literature. ASD and WS are both associated with general language and developmental delays. Difficulties in social interaction and general pragmatic difficulties are reported in both ASD and WS, but are more pervasive in ASD. Regarding facial emotion recognition, the two syndromes differ markedly in sensitivity to human faces. Despite the heterogeneity of these two groups, only a few studies with children have paid sufficient attention to participant recruitment and study design. A number of aspects need to be taken into account (eg, small age range, homogeneity of the subgroups, matching with typically developing children if scientific results are to inform the design of intervention programs for children with neurodevelopmental disorders such as ASD and WS. Keywords: neurodevelopmental disorders, facial emotion recognition, linguistic abilities, pragmatic abilities, emotions

  17. Activity of genes with functions in human Williams-Beuren Syndrome are impacted by mobile element insertions in the gray wolf genome.

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    vonHoldt, Bridgett M; Ji, Sarah S; Aardema, Matthew L; Stahler, Daniel; Udell, Monique A R; Sinsheimer, Janet S

    2018-06-01

    In canines, transposon dynamics have been associated with a hyper-social behavioral syndrome, although the functional mechanism has yet to be described. We investigate the epigenetic and transcriptional consequences of these behavior-associated mobile element insertions in dogs and Yellowstone wolves. We posit that the transposons themselves may not be the causative feature; rather, their transcriptional regulation may exert the functional impact. We survey four outlier transposons associated with hyper-sociability, with the expectation that they are targeted for epigenetic silencing. We predict hyper-methylation of mobile element insertions (MEIs), suggestive that the epigenetic silencing of and not the MEIs themselves may be driving dysregulation of nearby genes. We found that transposon-derived sequences are significantly hyper-methylated, regardless of their copy number or species. Further, we have assessed transcriptome sequence data and found evidence that mobile element insertions impact the expression levels of six genes (WBSCR17, LIMK1, GTF2I, WBSCR27, BAZ1B, and BCL7B), all of which have known roles in human Williams-Beuren syndrome due to changes in copy number, typically hemizygosity. Although further evidence is needed, our results suggest that a few insertions alter local expression at multiple genes, likely through a cis-regulatory mechanism that excludes proximal methylation.

  18. Altered functional connectivity of the default mode network in Williams syndrome: a multimodal approach.

    Science.gov (United States)

    Sampaio, Adriana; Moreira, Pedro Silva; Osório, Ana; Magalhães, Ricardo; Vasconcelos, Cristiana; Férnandez, Montse; Carracedo, Angel; Alegria, Joana; Gonçalves, Óscar F; Soares, José Miguel

    2016-07-01

    Resting state brain networks are implicated in a variety of relevant brain functions. Importantly, abnormal patterns of functional connectivity (FC) have been reported in several neurodevelopmental disorders. In particular, the Default Mode Network (DMN) has been found to be associated with social cognition. We hypothesize that the DMN may be altered in Williams syndrome (WS), a neurodevelopmental genetic disorder characterized by an unique cognitive and behavioral phenotype. In this study, we assessed the architecture of the DMN using fMRI in WS patients and typically developing matched controls (sex and age) in terms of FC and volumetry of the DMN. Moreover, we complemented the analysis with a functional connectome approach. After excluding participants due to movement artifacts (n = 3), seven participants with WS and their respective matched controls were included in the analyses. A decreased FC between the DMN regions was observed in the WS group when compared with the typically developing group. Specifically, we found a decreased FC in a posterior hub of the DMN including the precuneus, calcarine and the posterior cingulate of the left hemisphere. The functional connectome approach showed a focalized and global increased FC connectome in the WS group. The reduced FC of the posterior hub of the DMN in the WS group is consistent with immaturity of the brain FC patterns and may be associated with the singularity of their visual spatial phenotype. © 2016 John Wiley & Sons Ltd.

  19. (A)musicality in Williams syndrome: examining relationships among auditory perception, musical skill, and emotional responsiveness to music.

    Science.gov (United States)

    Lense, Miriam D; Shivers, Carolyn M; Dykens, Elisabeth M

    2013-01-01

    Williams syndrome (WS), a genetic, neurodevelopmental disorder, is of keen interest to music cognition researchers because of its characteristic auditory sensitivities and emotional responsiveness to music. However, actual musical perception and production abilities are more variable. We examined musicality in WS through the lens of amusia and explored how their musical perception abilities related to their auditory sensitivities, musical production skills, and emotional responsiveness to music. In our sample of 73 adolescents and adults with WS, 11% met criteria for amusia, which is higher than the 4% prevalence rate reported in the typically developing (TD) population. Amusia was not related to auditory sensitivities but was related to musical training. Performance on the amusia measure strongly predicted musical skill but not emotional responsiveness to music, which was better predicted by general auditory sensitivities. This study represents the first time amusia has been examined in a population with a known neurodevelopmental genetic disorder with a range of cognitive abilities. Results have implications for the relationships across different levels of auditory processing, musical skill development, and emotional responsiveness to music, as well as the understanding of gene-brain-behavior relationships in individuals with WS and TD individuals with and without amusia.

  20. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

    Science.gov (United States)

    Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; Spartà, Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

    2016-01-01

    Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2. © 2015 Wiley Periodicals, Inc.

  1. Raymond Williams and local cultures

    OpenAIRE

    B Longhurst

    1991-01-01

    In this paper it is maintained that Raymond Williams's writings on culture are of great importance to current developments in cultural geography. His work is periodised into three stages and its different subject matters identified. An interpretation of Williams's theory of culture is offered which places particular emphasis on his concepts of 'structure of feeling' and 'knowable community'. The creative tension between Williams's holistic treatment of culture and his stress on cultural strug...

  2. Thinking inside the box: Spatial frames of reference for drawing in Williams syndrome and typical development.

    Science.gov (United States)

    Hudson, Kerry D; Farran, Emily K

    2017-09-01

    Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias. Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability). Individuals with WS (N=17 Experiment 1; N=18 Experiment 2) and TD children matched by non-verbal ability drew single lines (Experiment One) and whole shapes (Experiment Two) within a neutral, incongruent or congruent frame. The angular deviation of the drawn line/shape, relative to the model line/shape, was measured. Both groups were sensitive to spatial frames of reference when drawing single lines and whole shapes, imposed by a frame around the drawing space. A local processing bias in WS cannot explain poor drawing performance in WS. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  3. (Amusicality in Williams syndrome: Examining relationships among auditory perception, musical skill, and emotional responsiveness to music

    Directory of Open Access Journals (Sweden)

    Miriam eLense

    2013-08-01

    Full Text Available Williams syndrome (WS, a genetic, neurodevelopmental disorder, is of keen interest to music cognition researchers because of its characteristic auditory sensitivities and emotional responsiveness to music. However, actual musical perception and production abilities are more variable. We examined musicality in WS through the lens of amusia and explored how their musical perception abilities related to their auditory sensitivities, musical production skills, and emotional responsiveness to music. In our sample of 73 adolescents and adults with WS, 11% met criteria for amusia, which is higher than the 4% prevalence rate reported in the typically developing population. Amusia was not related to auditory sensitivities but was related to musical training. Performance on the amusia measure strongly predicted musical skill but not emotional responsiveness to music, which was better predicted by general auditory sensitivities. This study represents the first time amusia has been examined in a population with a known neurodevelopmental genetic disorder with a range of cognitive abilities. Results have implications for the relationships across different levels of auditory processing, musical skill development, and emotional responsiveness to music, as well as the understanding of gene-brain-behavior relationships in individuals with WS and typically developing individuals with and without amusia.

  4. A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

    Science.gov (United States)

    Reilly, C.; Senior, J.; Murtagh, L.

    2015-01-01

    Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

  5. Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt.

    Science.gov (United States)

    Saad, Khaled; Abdelrahman, Ahmed A; Abdallah, Alameldin M; Othman, Hisham A K; Badry, Reda

    2013-12-01

    The aim of this study was to evaluate and explore the clinical, neuropsychiatric status and EEG pattern in a series of children with Williams-Beuren syndrome (WBS) in Assiut, Upper Egypt. We aimed to provide a comprehensive data comparable to what has been published, to enable us to make comparisons across different cultural areas. This will contribute to a better definition of the neuropsychiatric features that may be specific to WBS that allows early and better detection and management of those children. A series of 17 WBS children patients who consulted at our hospital were evaluated. The patients were assessed mainly for clinical, neurological, psychiatric and EEG status. We performed FISH for all patients. All patients had a deletion of the long arm of chromosome 7 (7q 11.23). All had elfin facies. Neurological examination revealed hypotonia in 25% of patients and rigidity (12.50%), brisk deep tendon reflexes (25%), abnormal plantar response (12.50%). Cerebellar and extrapyramidal signs were frequent: dysmetria (31.25%), dysdiadochokinesia (31.25%) and ataxia (18.75%). Epileptic seizures were present in 31.25% of patients and ADHD (37.5%). Autism was present in one patient. EEG abnormalities were present in 31.25%. Congenital cardiopathies were present in 62.50%. Our data showed that WBS children had multi-systemic clinical complications and the management of those patients requires the pediatrician to understand the natural course of this condition, awareness of potential medical problems, and periodic baseline clinical, neuropsychiatric evaluations, monitoring, and rapid intervention to improve the medical care for patients who have WBS. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome.

    Science.gov (United States)

    Sammour, Z M; de Bessa, J; Hisano, M; Bruschini, H; Kim, C A; Srougi, M; Gomes, C M

    2017-04-01

    Williams-Beuren syndrome (WBS) is a genetic condition caused by a microscopic deletion in the chromosome band 7q11.23. Individuals with WBS may present with congenital cardiovascular defects, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Lower urinary tract symptoms (LUTS) seem to be frequent in this population, but studies on this topic are scarce and based on small case series. To systematically evaluate the prevalence of lower urinary tract symptoms (LUTS) and the acquisition of bladder control in a large population with WBS. A cross-sectional study evaluating 87 consecutive patients with WBS; there were 41 girls and 46 boys. Genetic studies confirmed WBS in all patients. Subjects were clinically evaluated with: a history of LUTS obtained from the parents and child, a structured questionnaire of LUTS, a 3-day urinary frequency-volume chart, a quality of life question regarding LUTS, and physical examination. A history regarding the acquisition of bladder control was directly evaluated from the parents. Mean age of patients was 9.0 ± 4.2 years, ranging from 3 to 19 years. Based on the symptoms questionnaire and the frequency-volume chart, 70 patients (80.5%) were symptomatic. The most common symptom was urgency, affecting 61 (70.1%) patients, followed by increased urinary frequency in 60 (68.9%) patients, and urge-incontinence in 53 (60.9%), as shown in Summary Fig. More than half of the children reported nocturnal enuresis, including 61% of the girls and 52% of the boys. Twenty-three patients (25.6%) had a history of urinary tract infections. The mean age for acquisition of dryness during the day was 4.4 ± 1.9 years. Parents of 61 patients (70.1%) acknowledged that LUTS had a significant impact on the quality of life of their children. A high prevalence of LUTS was confirmed with a significant negative impact on quality of life in a large population of children and adolescents with WBS. It was shown for the first time

  7. I Know! It's Backwards Day! Gender Roles and William's Doll

    Science.gov (United States)

    Van de Kleut, Geraldine

    2007-01-01

    This article presents a case study of an exploration of gender roles in a second-grade classroom. The author discusses some of the discursive identities in which she and her students are positioned, and then uses the picture book William's Doll to introduce a discussion of discursive gender identities with her students. She then asks students to…

  8. William Butler Yeats’s ‘The Symbolic System’ of William Blake

    Directory of Open Access Journals (Sweden)

    Arianna Antonielli

    2008-03-01

    Full Text Available The theosophical systems formulated by great poets, such as William Blake and William Butler Yeats, represent a personal idiosyncratic actualization of an ancient repertoire of magical symbols and occult visions. This study wants to focus the attention on the philosophical, mythical, and esoteric syncretism that W. B. Yeats drew from William Blake’s symbolical system. A fundamental step of Yeats’s deep investigation into the Blakean ‘vision’ was given by his monumental work, written together with Edwin John Ellis, on Blake’s poetic and pictorial production, completed in 1893 with a three-volume edition entitled The Works of William Blake, Poetic, Symbolic, and Critical. This work, published in London by Bernard Quaritch, deeply influenced Yeats’s symbolical and imaginary system, determining its subsequent development up to its codification in the volume of A Vision. With WWB, Yeats was able to systematize for the first time his own thought, giving unity to his Weltanschauung and his poetry. Following this hypothesis, I concentrated on Yeats’s and Ellis’s numerous analyses dedicated to Blake’s mythological and symbolical corpus and, in particular, I examined the last chapter of the first volume of the Quaritch edition. This chapter, entitled “The Symbolic System”, constitutes an unquestionable link between Yeats the reader and scholar of Blake, and Yeats the poet and follower of Blake.

  9. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.

    Science.gov (United States)

    Zhang, Lichen; Zhang, Xiaoqing; You, Guoling; Yu, Yongguo; Fu, Qihua

    2018-06-01

    Williams-Beuren syndrome (WBS) is caused by a microdeletion of chromosome arm 7q11.23. A rapid and inexpensive genotyping method to detect microdeletion on 7q11.23 needs to be developed for the diagnosis of WBS. This study describes the development of a new type of molecular diagnosis method to detect microdeletion on 7q11.23 based upon high-resolution melting (HRM). Four genes on 7q11.23 were selected as the target genes for the deletion genotyping. dNTP-limited duplex PCR was used to amplify the reference gene, CFTR, and one of the four genes respectively on 7q11.23. An HRM assay was performed on the PCR products, and the height ratio of the negative derivative peaks between the target gene and reference gene was employed to analyze the copy number variation of the target region. A new genotyping method for detecting 7q11.23 deletion was developed based upon dNTP-limited PCR and HRM, which cost only 96 min. Samples from 15 WBS patients and 12 healthy individuals were genotyped by this method in a blinded fashion, and the sensitivity and specificity was 100% (95% CI, 0.80-1, and 95% CI, 0.75-1, respectively) which was proved by CytoScan HD array. The HRM assay we developed is an rapid, inexpensive, and highly accurate method for genotyping 7q11.23 deletion. It is potentially useful in the clinical diagnosis of WBS. Copyright © 2018 Elsevier B.V. All rights reserved.

  10. Increase in Mexican and Latin American scientific articles on irritable bowel syndrome.

    Science.gov (United States)

    Porras, R; López-Colombo, A; Schmulson, M

    2015-01-01

    There is an implied perception that little scientific information on irritable bowel syndrome (IBS) comes out of Mexico and Latin America in the international medical literature, but the number and tendencies of articles from the region on IBS are not known. To determine the number and type of Mexican and Latin American articles on IBS published between 1990-2015. A systematic search of Medline was carried out employing the terms « Irritable Bowel Syndrome » or its abbreviation (IBS). Mexico and every other Latin American country were added to specify the search. The articles were selected if they were published in Mexico and/or the rest of Latin America, if they were international papers on IBS in the region, or if they were written by Mexican and/or Latin American authors. In addition, the articles were classified into the following categories: Reviews/Editorials/Letters to the Editor (REV/ED), Epidemiology/Quality of Life/Psychosocial Factors (EPI/QOL), Diagnostic (DX), Treatment (TX), and Translational/Pathophysiologic (TRANS) studies. A total of 66 articles from Mexico and 47 from Latin America were identified, but only 87.7 and 48.9%, respectively, fit the selection criteria. Category distribution was: EPI/QOL: 36.2%, REV/ED: 27.5%, TRANS: 18.8, TX: 10%, and DX: 7.5% and was similar between Mexico and Latin America (p=0.33). The year 2005 saw an increase in the number of articles in Mexico, with a peak in 2010. The figures for Latin American articles remained stable over the years, with a peak in 2012. A noticeable increase has been observed over the last decade in the research conducted on IBS in Mexico and Latin America. Even though the EPI/QOL studies predominate, the sophistication of research is reflected in the TRANS studies that are in third place of frequency. The information referred to herein demonstrates maturity in the field, making it possible to carry out consensuses based on local data. Copyright © 2015 Asociación Mexicana de

  11. William Gaddis’s Immortality: Celebration, Cartoon, or Corruption?

    OpenAIRE

    Alberts, Crystal

    2013-01-01

    Although ostensibly a review of 'The Letters of William Gaddis' edited by Steven Moore (Champaign: Dalkey Archive, 2013), this article evaluates Moore’s volume in light of generally accepted practices of scholarly editions and the handling of historical documents. In particular, Alberts compares some of Moore’s edited letters to the originals housed either at Washington University in St. Louis or the Harry Ransom Center at the University of Texas, Austin and reveals issues involving the repre...

  12. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

    Science.gov (United States)

    Metcalfe, Kay; Simeonov, Emil; Beckett, William; Donnai, Dian; Tassabehji, May

    2005-04-01

    Williams-Beuren syndrome (WBS) is a neurodevelopmental microdeletion disorder that usually occurs sporadically due to its location within a highly repetitive genomic region that is unstable and prone to unequal cross-over during meiosis. The consequential loss of chromosomal material includes approximately 1.5 Mb of DNA at 7q11.23. Whilst cases of dominant inheritance have been described in the literature, there have been few reports of molecular confirmation and none have carried out detailed genotyping. We describe a Bulgarian father and son with WBS detected by fluorescent in situ hybridisation (with an elastin gene probe) and loss of heterozygosity mapping using microsatellite markers located in the critical region. These individuals appear to have a common WBS heterozygous deletion, confirming the expected dominant transmission and adding to the few familial cases reported. The deletion includes the gene FKBP6 which has recently been shown to play a role in homologous chromosome pairing in meiosis and male fertility in mouse models. Homozygous Fkbp6 -/- male mice are infertile and our data suggests that haploinsufficiency for FKBP6 does not appear to preclude male fertility in WBS, although male infertility involving this gene has the potential to follow the mouse model as a human autosomal recessive condition.

  13. Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome.

    Science.gov (United States)

    Borralleras, Cristina; Mato, Susana; Amédée, Thierry; Matute, Carlos; Mulle, Christophe; Pérez-Jurado, Luis A; Campuzano, Victoria

    2016-08-02

    Mice heterozygous for a complete deletion (CD) equivalent to the most common deletion found in individuals with Williams-Beuren syndrome (WBS) recapitulate relevant features of the neurocognitive phenotype, such as hypersociability, along with some neuroanatomical alterations in specific brain areas. However, the pathophysiological mechanisms underlying these phenotypes still remain largely unknown. We have studied the synaptic function and cognition in CD mice using hippocampal slices and a behavioral test sensitive to hippocampal function. We have found that long-term potentiation (LTP) elicited by theta burst stimulation (TBS) was significantly impaired in hippocampal field CA1 of CD animals. This deficit might be associated with the observed alterations in spatial working memory. However, we did not detect changes in presynaptic function, LTP induction mechanisms or AMPA and NMDA receptor function. Reduced levels of Brain-derived neurotrophic factor (BDNF) were present in the CA1-CA3 hippocampal region of CD mice, which could account for LTP deficits in these mice. Taken together, these results suggest a defect of CA1 synapses in CD mice to sustain synaptic strength after stimulation. These data represent the first description of synaptic functional deficits in CD mice and further highlights the utility of the CD model to study the mechanisms underlying the WBS neurocognitive profile.

  14. (A)musicality in Williams syndrome: examining relationships among auditory perception, musical skill, and emotional responsiveness to music

    Science.gov (United States)

    Lense, Miriam D.; Shivers, Carolyn M.; Dykens, Elisabeth M.

    2013-01-01

    Williams syndrome (WS), a genetic, neurodevelopmental disorder, is of keen interest to music cognition researchers because of its characteristic auditory sensitivities and emotional responsiveness to music. However, actual musical perception and production abilities are more variable. We examined musicality in WS through the lens of amusia and explored how their musical perception abilities related to their auditory sensitivities, musical production skills, and emotional responsiveness to music. In our sample of 73 adolescents and adults with WS, 11% met criteria for amusia, which is higher than the 4% prevalence rate reported in the typically developing (TD) population. Amusia was not related to auditory sensitivities but was related to musical training. Performance on the amusia measure strongly predicted musical skill but not emotional responsiveness to music, which was better predicted by general auditory sensitivities. This study represents the first time amusia has been examined in a population with a known neurodevelopmental genetic disorder with a range of cognitive abilities. Results have implications for the relationships across different levels of auditory processing, musical skill development, and emotional responsiveness to music, as well as the understanding of gene-brain-behavior relationships in individuals with WS and TD individuals with and without amusia. PMID:23966965

  15. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

    Directory of Open Access Journals (Sweden)

    Rachel Sayuri Honjo

    2015-01-01

    Full Text Available Williams-Beuren syndrome (WBS is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA. Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Criança of the Hospital das Clínicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%, neuropsychomotor delay (98.2%, hypersocial behavior (94.5%, hyperacusis (94.5%, and congenital heart disease (81.8%. Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.

  16. Abnormal secretion of melatonin and cortisol in relation to sleep disturbances in children with Williams syndrome.

    Science.gov (United States)

    Sniecinska-Cooper, Anna Maria; Iles, Ray Kruse; Butler, Stephen Andrew; Jones, Huw; Bayford, Richard; Dimitriou, Dagmara

    2015-01-01

    A high rate of sleep disturbances has been reported in individuals with Williams syndrome (WS) but the underlying aetiology has yet to be identified. Melatonin and cortisol levels display circadian rhythmicity and are known to affect and regulate sleep/wake patterns. The current study examined the levels of these two endocrine markers and explored a possible relationship with sleep patterns in children with WS. Twenty-five children with WS and 27 typically developing age- and gender-matched comparison children were recruited. Saliva was collected from each child at three time points: 4-6 pm, before natural bedtime, and after awakening. The levels of salivary melatonin and cortisol were analysed by specific enzyme-linked immunoassays. Sleep patterns were examined using actigraphy and the Children's Sleep Habit Questionnaire. The WS group had shallower drops in cortisol and less pronounced increase in melatonin at bedtime compared to the controls. Furthermore, they also had significantly higher levels of cortisol before bedtime. Increased bedtime cortisol and less pronounced rise in melatonin levels before sleep may play a role in the occurrence of sleep disturbances, such as delayed sleep onset, observed in children with WS. As both markers play a significant role in our circadian rhythm and sleep/wake cycle, it is necessary to examine sleep using multi-system analysis. Copyright © 2014 Elsevier B.V. All rights reserved.

  17. ORIGINAL ARTICLES Pharmacological testing in Horner's syndrome

    African Journals Online (AJOL)

    topical cocaine 10% in both eyes gave an odds ratio of 1 050:1 that. Horner's syndrome ... nerve endings and therefore do not stimulate the effector cells directly. ... Pharmacological testing in Horner's syndrome – a new paradigm. Derrick P ...

  18. Categories are alive: interview with Brackette F. Williams

    OpenAIRE

    Durão, Susana; Bastos, Cristiana; Williams, Brackette F.

    2013-01-01

    Brackette F. Williams is an American anthropologist and a Senior Justice ­Advocate, currently an associate professor of Cultural Anthropology at the University of ­Arizona. She studied at the University of Cornell, the University of Arizona, and received her doctorate from Johns Hopkins University. Her work interweaves ­matters of race, gender, class, ideology and politics in a unique manner – as seen in the article “A class act: Anthropology and the race to nation across ethnic terrain” (Ann...

  19. William Henry Bragg, man and scientist, Nobel Laureate and First Professor of Physics, University of Adelaide 1886-1909.

    Science.gov (United States)

    Patterson, John; George, Robert

    2018-03-01

    In London, November 1915, a telegram was received at the home of William Henry Bragg from the secretary of the Academy of Science in Stockholm announcing the award of the Nobel Prize in Physics for "the analysis of crystal structures by means of X-rays". A second similar telegram was addressed to his 25 year old son William Lawrence Bragg (Jenkin, 2008). This article commemorates the centenary of that event and the unveiling of a bust of Sir William Bragg alongside that of his son, Sir Lawrence Bragg, on North Terrace in Adelaide where he spent 23 years of his early career. Copyright © 2018. Published by Elsevier Ltd.

  20. William Osler's "The Nervousness of American Women".

    Science.gov (United States)

    Golden, Richard L

    2008-02-01

    Almost a century ago, William Osler, the foremost physician of his time, was approached by a leading periodical to write a series of articles on the health of the American woman. Osler, then the Regius Professor of Medicine at Oxford, wrote an essay dealing with the psychological stresses affecting the "new woman" of the early 20th century at varying stages of her development and the "nervousness" that ensued. The article was never published as a result of his belated reservations on the propriety of a professional writing for a lay journal. Osler's thinking frequently reflected the spirit of his Victorian-Edwardian era, although at times he demonstrated advanced and prescient ideas about sexuality, not often the subject of discussion, even in circumspect form, in contemporary nonprofessional literature.

  1. 33 CFR 167.1700 - In Prince William Sound: General.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false In Prince William Sound: General... Schemes and Precautionary Areas Pacific West Coast § 167.1700 In Prince William Sound: General. The Prince William Sound Traffic Separation Scheme consists of four parts: Prince William Sound Traffic Separation...

  2. Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

    Directory of Open Access Journals (Sweden)

    Victoria Campuzano

    2012-02-01

    Full Text Available A hallmark feature of Williams-Beuren Syndrome (WBS is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. Deletion of a functional NCF1 gene copy has been shown to protect a proportion of WBS patients against hypertension, likely through reduced NADPH-oxidase (NOX-mediated oxidative stress. DD mice, carrying a 0.67 Mb heterozygous deletion including the Eln gene, presented with a generalized arteriopathy, hypertension, and cardiac hypertrophy, associated with elevated angiotensin II (angII, oxidative stress parameters, and Ncf1 expression. Genetic (by crossing with Ncf1 mutant and/or pharmacological (with ang II type 1 receptor blocker, losartan, or NOX inhibitor apocynin reduction of NOX activity controlled hormonal and biochemical parameters in DD mice, resulting in normalized blood pressure and improved cardiovascular histology. We provide strong evidence for implication of the redox system in the pathophysiology of the cardiovascular disease in a mouse model of WBS. The phenotype of these mice can be ameliorated by either genetic or pharmacological intervention reducing NOX activity, likely through reduced angII-mediated oxidative stress. Therefore, anti-NOX therapy merits evaluation to prevent the potentially serious cardiovascular complications of WBS, as well as in other cardiovascular disorders mediated by similar pathogenic mechanism.

  3. Centennial ties: Harvey Cushing (1869-1939) and William Osler (1849-1919) on Andreas Vesalius (1514-1564).

    Science.gov (United States)

    Toodayan, Nadeem

    2017-08-01

    Andreas Vesalius is often regarded as the founding father of modern anatomical study. The quincentennial anniversary of his birth - 31 December 2014 - has been very widely commemorated, and it is the purpose of this article to contrast these celebrations with what happened during the Vesalius quatercentenary year of 1914. More specifically, we look at how Vesalius was perceived a century ago by examining his influence on two of western medicine's most iconic gentlemen - Harvey Williams Cushing (1869-1939) and his larger than life mentor, Sir William Osler (1849-1919).

  4. William Gaddis’s Immortality: Celebration, Cartoon, or Corruption?

    Directory of Open Access Journals (Sweden)

    Crystal Alberts

    2013-11-01

    Full Text Available Although ostensibly a review of 'The Letters of William Gaddis' edited by Steven Moore (Champaign: Dalkey Archive, 2013, this article evaluates Moore’s volume in light of generally accepted practices of scholarly editions and the handling of historical documents. In particular, Alberts compares some of Moore’s edited letters to the originals housed either at Washington University in St. Louis or the Harry Ransom Center at the University of Texas, Austin and reveals issues involving the representation of the archival material, inconsistencies in editorial principles, and a misattributed letter, among other things.

  5. Revolution and Exploration: the English Translations of Rousseau and Humboldt by Helen Maria Williams

    Directory of Open Access Journals (Sweden)

    Paula Yurss Lasanta

    2017-12-01

    Full Text Available British author Helen Maria Williams (1759-1827 was a well-known figure in the eighteenth century literary circles, whose work was praised by Elizabeth Montagu, Samuel Johnson, Dorothy and William Wordsworth, Mary Wollstonecraft, Hester Piozzi or Alexander von Humboldt.  In her early poems  Edwin and Eltruda (1782, An Ode to the Peace (1783 and Peru (1784, Williams starts to reveal her political tendencies by appealing to strong empathic feelings as a key to social and political transformation. As a result of her interest in politics, she travelled to France in 1790 and published her most acclaimed work Letters from France (1790. However, the rest of her production has received little critical attention by modern scholars, who have overlooked her involvement in translation. Williams’ only extant novel, Julia (1790 is in fact a creative translation of Rousseau’s Julie ou La Nouvelle Héloïse (1761, in which Williams includes poems that evidence her interest in revolutionary politics. Four years later, she translated Bernardin de Saint Pierre’s Paul et Virginie, while she was imprisoned in Paris. While translating novels was regarded as a respectable exercise for women writers, Williams challenges gender assumptions by translating Researches (1814 and the seven volumes of Personal Narrative (1814-1829, which had been produced by one of the most influential eighteenth century scientists, Alexander von Humboldt. This article interrogates how Williams makes use of translation to access areas of knowledge traditionally restricted to men, such as philosophy, politics and science. For this purpose, I will focus on her translations of the work of two leading intellectual figures of the eighteenth century,  Rousseau and Von Humboldt.

  6. William Rowan Hamilton: Mathematical genius

    International Nuclear Information System (INIS)

    Wilkins, D.R.

    2006-01-01

    This year Ireland celebrates the bicentenary of the mathematician William Rowan Hamilton, best remembered for quaternions and for his pioneering work on optics and dynamics. Two centuries after his birth, the extent to which terms such as Hamiltonian and Hamiltonian system have entered the everyday language of mathematicians and physicists testifies to the continuing impact of the scientific work of William Rowan Hamilton. (U.K.)

  7. 3D PATTERN OF BRAIN ABNORMALITIES IN WILLIAMS SYNDROME VISUALIZED USING TENSOR-BASED MORPHOMETRY

    Science.gov (United States)

    Chiang, Ming-Chang; Reiss, Allan L.; Lee, Agatha D.; Bellugi, Ursula; Galaburda, Albert M.; Korenberg, Julie R.; Mills, Debra L.; Toga, Arthur W.; Thompson, Paul M.

    2009-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder associated with deletion of ~20 contiguous genes in chromosome band 7q11.23. Individuals with WS exhibit mild to moderate mental retardation, but are relatively more proficient in specific language and musical abilities. We used tensor-based morphometry (TBM) to visualize the complex pattern of gray/white matter reductions in WS, based on fluid registration of structural brain images. Methods 3D T1-weighted brain MRIs of 41 WS subjects (age: 29.2±9.2SD years; 23F/18M) and 39 age-matched healthy controls (age: 27.5±7.4 years; 23F/16M) were fluidly registered to a minimum deformation target. Fine-scale volumetric differences were mapped between diagnostic groups. Local regions were identified where regional structure volumes were associated with diagnosis, and with intelligence quotient (IQ) scores. Brain asymmetry was also mapped and compared between diagnostic groups. Results WS subjects exhibited widely distributed brain volume reductions (~10–15% reduction; P < 0.0002, permutation test). After adjusting for total brain volume, the frontal lobes, anterior cingulate, superior temporal gyrus, amygdala, fusiform gyrus and cerebellum were found to be relatively preserved in WS, but parietal and occipital lobes, thalamus and basal ganglia, and midbrain were disproportionally decreased in volume (P < 0.0002). These regional volumes also correlated positively with performance IQ in adult WS subjects (age ≥ 30 years, P = 0.038). Conclusion TBM facilitates 3D visualization of brain volume reductions in WS. Reduced parietal/occipital volumes may be associated with visuospatial deficits in WS. By contrast, frontal lobes, amygdala, and cingulate gyrus are relatively preserved or even enlarged, consistent with unusual affect regulation and language production in WS. PMID:17512756

  8. Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior.

    Directory of Open Access Journals (Sweden)

    Li Dai

    Full Text Available The molecular and neural mechanisms regulating human social-emotional behaviors are fundamentally important but largely unknown; unraveling these requires a genetic systems neuroscience analysis of human models. Williams Syndrome (WS, a condition caused by deletion of ~28 genes, is associated with a gregarious personality, strong drive to approach strangers, difficult peer interactions, and attraction to music. WS provides a unique opportunity to identify endogenous human gene-behavior mechanisms. Social neuropeptides including oxytocin (OT and arginine vasopressin (AVP regulate reproductive and social behaviors in mammals, and we reasoned that these might mediate the features of WS. Here we established blood levels of OT and AVP in WS and controls at baseline, and at multiple timepoints following a positive emotional intervention (music, and a negative physical stressor (cold. We also related these levels to standardized indices of social behavior. Results revealed significantly higher median levels of OT in WS versus controls at baseline, with a less marked increase in AVP. Further, in WS, OT and AVP increased in response to music and to cold, with greater variability and an amplified peak release compared to controls. In WS, baseline OT but not AVP, was correlated positively with approach, but negatively with adaptive social behaviors. These results indicate that WS deleted genes perturb hypothalamic-pituitary release not only of OT but also of AVP, implicating more complex neuropeptide circuitry for WS features and providing evidence for their roles in endogenous regulation of human social behavior. The data suggest a possible biological basis for amygdalar involvement, for increased anxiety, and for the paradox of increased approach but poor social relationships in WS. They also offer insight for translating genetic and neuroendocrine knowledge into treatments for disorders of social behavior.

  9. William Rowan Hamilton: Mathematical genius

    Energy Technology Data Exchange (ETDEWEB)

    Wilkins, D.R. [School of Mathematics, Trinity College, Dublin (Ireland)]. E-mail: dwilkins@maths.tcd.ie

    2005-08-01

    This year Ireland celebrates the bicentenary of the mathematician William Rowan Hamilton, best remembered for 'quaternions' and for his pioneering work on optics and dynamics. Two centuries after his birth, the extent to which terms such as 'Hamiltonian' and 'Hamiltonian system' have entered the everyday language of mathematicians and physicists testifies to the continuing impact of the scientific work of William Rowan Hamilton. (U.K.)

  10. The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

    Energy Technology Data Exchange (ETDEWEB)

    Peoples, R.; Perez-Jurado, L.; Francke, U.; Yu-Ker Wang [Stanford Univ. Medical Center, CA (United States); Kaplan, P. [Children`s Hospital of Philadelphia, PA (United States)

    1996-06-01

    Williams syndrome (WS) is a developmental disorder with multiple system manifestations, including supraval var aortic stenosis (SVAS), peripheral pulmonic stenosis, connective tissue abnormalities, short stature, characteristic personality profile and cognitive deficits, and variable hypercalcemia in infancy. It is caused by heterozygosity for a chromosomal deletion of part of band 7q11.23 including the elastin locus (ELN). Since disruption of the ELN gene causes autosomal dominant SVAS, it is assumed that ELN haploinsufficiency is responsible for the cardiovascular features of WS. The deletion that extends from the ELN locus in both directions is {ge}200 kb in size, although estimates of {ge}2 Mb are suggested by high-resolution chromosome banding and physical mapping studies. We have searched for additional dosage-sensitive genes within the deletion that may be responsible for the noncardiovascular features. We report here that the gene for replication factor C subunit 2 (RFC2) maps within the WS deletion region and was found to be deleted in all of 18 WS patients studied. The protein product of RFC2 is part of a multimeric complex involved in DNA elongation during replication. 14 refs., 3 figs.

  11. 33 CFR 110.233 - Prince William Sound, Alaska.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Prince William Sound, Alaska. 110... ANCHORAGES ANCHORAGE REGULATIONS Anchorage Grounds § 110.233 Prince William Sound, Alaska. (a) The anchorage grounds. In Prince William Sound, Alaska, beginning at a point at latitude 60°40′00″ N., longitude 146°40...

  12. Sequential egocentric navigation and reliance on landmarks in Williams syndrome and typical development

    Directory of Open Access Journals (Sweden)

    Hannah eBroadbent

    2015-02-01

    Full Text Available Visuospatial difficulties in Williams syndrome (WS are well documented. Recently, research has shown that spatial difficulties in WS extend to large-scale space, particularly in coding space using an allocentric frame of reference. Typically developing (TD children and adults predominantly rely on the use of a sequential egocentric strategy to navigate a large-scale route (retracing a sequence of left-right body turns. The aim of this study was to examine whether individuals with WS are able to employ a sequential egocentric strategy to guide learning and the retracing of a route. Forty-eight TD children, aged 5, 7 and 9 years and 18 participants with WS were examined on their ability to learn and retrace routes in two (6-turn virtual environment mazes (with and without landmarks. The ability to successfully retrace a route following the removal of landmarks (use of sequential egocentric coding was also examined.Although in line with TD 5 year-olds when learning a route with landmarks, individuals with WS showed significantly greater detriment when these landmarks were removed, relative to all TD groups. Moreover, the WS group made significantly more errors than all TD groups when learning a route that never contained landmarks. On a perceptual view-matching task, results revealed a high level of performance across groups, indicative of an ability to use this visual information to potentially aid navigation. These findings suggest that individuals with WS rely on landmarks to a greater extent than TD children, both for learning a route and for retracing a recently learned route. TD children, but not individuals with WS, were able to fall back on the use of a sequential egocentric strategy to navigate when landmarks were not present. Only TD children therefore coded sequential route information simultaneously with landmark information. The results are discussed in relation to known atypical cortical development and perceptual-matching abilities

  13. 76 FR 1130 - Prince William Sound Resource Advisory Committee

    Science.gov (United States)

    2011-01-07

    ... DEPARTMENT OF AGRICULTURE Forest Service Prince William Sound Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Prince William Sound Resource Advisory... conducted: The Prince William Sound Resource Advisory Committee (RAC) will be discussing and voting on...

  14. 77 FR 45331 - Prince William Sound Resource Advisory Committee

    Science.gov (United States)

    2012-07-31

    ... DEPARTMENT OF AGRICULTURE Forest Service Prince William Sound Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Prince William Sound Resource Advisory... Prince William Sound Resource Advisory Committee (RAC) will be discussing and voting on proposals that...

  15. Ending Caleb Williams: on storytelling influencing William Godwin’s politics

    Directory of Open Access Journals (Sweden)

    Peterson Roberto da Silva

    2017-12-01

    Full Text Available William Godwin escreveu o romance gótico Things as They Are; or, the Adventures of Caleb Williams (“As Coisas como Elas São; ou, as Aventuras de Caleb Williams”, em tradução livre em 1794 para disseminar suas ideias filosóficas e políticas. Inicio o artigo revisando a literatura para demonstrar como sua teoria influenciou tanto sua decisão de escrever ficções quanto o tipo de ficção que ele escreveu, mostrando como o autor usou e inovou convenções do gênero gótico para transmitir suas ideias para um público mais amplo. Então comparo duas perspectivas divergentes na literatura quanto à maneira como suas narrativas influenciaram suas ideias políticas e filosóficas, em particular a partir de comentários acerca do significado e do impacto de mudanças de última hora ao desfecho de Caleb Williams. Argumento que essa relação ambígua entre narrativa e política na obra de Godwin é relevante para reflexões políticas contemporâneas sobre a relação entre representação e ação política, ou como narrativas sobre a condição humana e realidades políticas podem afetas as ideias, atitudes e relações sociais de seus narradores.

  16. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    DEFF Research Database (Denmark)

    Kjaergaard, S; Sundberg, K; Jørgensen, F S

    2010-01-01

    The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes...

  17. 76 FR 18715 - Prince William Sound Resource Advisory Committee

    Science.gov (United States)

    2011-04-05

    ... DEPARTMENT OF AGRICULTURE Forest Service Prince William Sound Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Prince William Sound Resource Advisory... meeting is open to the public. The following business will be conducted: The Prince William Sound Resource...

  18. Looking around houses: attention to a model when drawing complex shapes in Williams syndrome and typical development.

    Science.gov (United States)

    Hudson, Kerry D; Farran, Emily K

    2013-09-01

    Drawings by individuals with Williams syndrome (WS) typically lack cohesion. The popular hypothesis is that this is a result of excessive focus on local-level detail at the expense of global configuration. In this study, we explored a novel hypothesis that inadequate attention might underpin drawing in WS. WS and typically developing (TD) non-verbal ability matched groups copied and traced a house figure comprised of geometric shapes. The house was presented on a computer screen for 5-s periods and participants pressed a key to re-view the model. Frequency of key-presses indexed the looks to the model. The order that elements were replicated was recorded to assess hierarchisation of elements. If a lack of attention to the model explained poor drawing performance, we expected participants with WS to look less frequently to the model than TD children when copying. If a local-processing preference underpins drawing in WS, more local than global elements would be produced. Results supported the first, but not second hypothesis. The WS group looked to the model infrequently, but global, not local, parts were drawn first, scaffolding local-level details. Both groups adopted a similar order of drawing and tracing of parts, suggesting typical, although delayed strategy-use in the WS group. Additionally both groups drew larger elements of the model before smaller elements, suggested a size-bias when drawing. Copyright © 2013 Elsevier Ltd. All rights reserved.

  19. Williams propylene upgrading

    Energy Technology Data Exchange (ETDEWEB)

    Chappell, D. [Williams Energy Canada Inc., Edmonton, AB (Canada)

    2004-07-01

    Edmonton-based Williams Energy Canada Inc. extracts petrochemicals from oil sands and operates a straddle plant business and an olefins business. This presentation provided an update of both businesses and reviewed the advantage of polypropylene production in Alberta, with reference to premium markets and to comparative rail costs to Chicago via Texas, and rail costs to Chicago from Alberta. Williams' straddle plant business includes the Cochrane Straddle Plant, the Empress 2 Straddle Plant, and the Empress 5 Straddle Plant. The Fort McMurray Extraction Plant was also described along with the Redwater Olefins Fractionator and its potential for salt cavern storage and distribution. It was noted that Alberta is well positioned for polypropylene production because it already has a secure supply and an excellent distribution network. tabs., figs.

  20. Williams propylene upgrading

    International Nuclear Information System (INIS)

    Chappell, D.

    2004-01-01

    Edmonton-based Williams Energy Canada Inc. extracts petrochemicals from oil sands and operates a straddle plant business and an olefins business. This presentation provided an update of both businesses and reviewed the advantage of polypropylene production in Alberta, with reference to premium markets and to comparative rail costs to Chicago via Texas, and rail costs to Chicago from Alberta. Williams' straddle plant business includes the Cochrane Straddle Plant, the Empress 2 Straddle Plant, and the Empress 5 Straddle Plant. The Fort McMurray Extraction Plant was also described along with the Redwater Olefins Fractionator and its potential for salt cavern storage and distribution. It was noted that Alberta is well positioned for polypropylene production because it already has a secure supply and an excellent distribution network. tabs., figs

  1. The Influence of the Doctor’s Mind Style in Spring and All on William Carlos Williams’s Poetry Creation

    Directory of Open Access Journals (Sweden)

    Meiling Fu

    2017-05-01

    Full Text Available This article intends to investigate the doctor’s mind style on William Carlos Williams in his collection of poems Spring and All. Research shows that Williams’s doctor’s life makes him shape a different view of the world. He always observes something difficult or challenging at first and notices something easy and comfortable at last. This paper concludes that Williams’s doctor’s mind style exerts influence on his creation of poetry both in content and in form.

  2. Children with 7q11.23 Duplication Syndrome: Psychological Characteristics

    Science.gov (United States)

    Mervis, Carolyn B.; Klein-Tasman, Bonita P.; Huffman, Myra J.; Velleman, Shelley L.; Pitts, C. Holley; Henderson, Danielle R.; Woodruff-Borden, Janet; Morris, Colleen A.; Osborne, Lucy R.

    2015-01-01

    To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we tested 63 children with classic Dup7 aged 4–17 years. Sixteen toddlers aged 18–45 months with classic Dup7 and 12 adults identified by cascade testing also were assessed. For the child group, median General Conceptual Ability (similar to IQ) on the Differential Ability Scales-II was 85.0 (low average), with a range from severe disability to high average ability. Median reading and mathematics achievement standard scores were at the low average to average level, with a range from severe impairment to high average or superior ability. Adaptive behavior was considerably more limited; median Scales of Independent Behavior—Revised Broad Independence standard score was 62.0 (mild impairment), with a range from severe adaptive impairment to average adaptive ability. Anxiety disorders were common, with 50.0% of children diagnosed with Social Phobia, 29.0% with Selective Mutism, 12.9% with Separation Anxiety Disorder, and 53.2% with Specific Phobia. In addition, 35.5% were diagnosed with Attention Deficit/Hyperactivity Disorder and 24.2% with Oppositional Defiant Disorder or Disruptive Behavior Disorder-Not Otherwise Specified. 33.3% of the children screened positive for a possible Autism Spectrum Disorder and 82.3% were diagnosed with Speech Sound Disorder. We compare these findings to previously reported results for children with Williams syndrome and argue that genotype/phenotype studies involving the Williams syndrome region offer important opportunities to understand the contribution of genes in this region to common disorders affecting the general population. PMID:25900101

  3. Children with 7q11.23 duplication syndrome: psychological characteristics.

    Science.gov (United States)

    Mervis, Carolyn B; Klein-Tasman, Bonita P; Huffman, Myra J; Velleman, Shelley L; Pitts, C Holley; Henderson, Danielle R; Woodruff-Borden, Janet; Morris, Colleen A; Osborne, Lucy R

    2015-07-01

    To begin to delineate the psychological characteristics associated with classic 7q11.23 duplication syndrome (duplication of the classic Williams syndrome region; hereafter classic Dup7), we tested 63 children with classic Dup7 aged 4-17 years. Sixteen toddlers aged 18-45 months with classic Dup7 and 12 adults identified by cascade testing also were assessed. For the child group, median General Conceptual Ability (similar to IQ) on the Differential Ability Scales-II was 85.0 (low average), with a range from severe disability to high average ability. Median reading and mathematics achievement standard scores were at the low average to average level, with a range from severe impairment to high average or superior ability. Adaptive behavior was considerably more limited; median Scales of Independent Behavior-Revised Broad Independence standard score was 62.0 (mild impairment), with a range from severe adaptive impairment to average adaptive ability. Anxiety disorders were common, with 50.0% of children diagnosed with Social Phobia, 29.0% with Selective Mutism, 12.9% with Separation Anxiety Disorder, and 53.2% with Specific Phobia. In addition, 35.5% were diagnosed with Attention Deficit/Hyperactivity Disorder and 24.2% with Oppositional Defiant Disorder or Disruptive Behavior Disorder-Not Otherwise Specified. 33.3% of the children screened positive for a possible Autism Spectrum Disorder and 82.3% were diagnosed with Speech Sound Disorder. We compare these findings to previously reported results for children with Williams syndrome and argue that genotype/phenotype studies involving the Williams syndrome region offer important opportunities to understand the contribution of genes in this region to common disorders affecting the general population. © 2015 Wiley Periodicals, Inc.

  4. Théologie et ecclésiologie chez William Laud (1573-1645, archevêque de Cantorbéry Theology and Ecclesiology in the Thought of William Laud (1573-1645, Archbishop of Canterbury

    Directory of Open Access Journals (Sweden)

    Pierre Lurbe

    2009-05-01

    Full Text Available This article argues that William Laud’s theology and ecclesiology are strongly interrelated. A theologian who gave pride of place to sacramental life, and whose forceful rejection of predestination made him close to Arminianism, Laud followed in the footsteps of Saint Cyprian in upholding episcopacy as the proper form of government for the Church.

  5. Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome.

    Science.gov (United States)

    Järvinen, Anna; Ng, Rowena; Crivelli, Davide; Arnold, Andrew J; Woo-VonHoogenstyn, Nicholas; Bellugi, Ursula

    2015-07-01

    Compromised social-perceptual ability has been proposed to contribute to social dysfunction in neurodevelopmental disorders. While such impairments have been identified in Williams syndrome (WS), little is known about emotion processing in auditory and multisensory contexts. Employing a multidimensional approach, individuals with WS and typical development (TD) were tested for emotion identification across fearful, happy, and angry multisensory and unisensory face and voice stimuli. Autonomic responses were monitored in response to unimodal emotion. The WS group was administered an inventory of social functioning. Behaviorally, individuals with WS relative to TD demonstrated impaired processing of unimodal vocalizations and emotionally incongruent audiovisual compounds, reflecting a generalized deficit in social-auditory processing in WS. The TD group outperformed their counterparts with WS in identifying negative (fearful and angry) emotion, with similar between-group performance with happy stimuli. Mirroring this pattern, electrodermal activity (EDA) responses to the emotional content of the stimuli indicated that whereas those with WS showed the highest arousal to happy, and lowest arousal to fearful stimuli, the TD participants demonstrated the contrasting pattern. In WS, more normal social functioning was related to higher autonomic arousal to facial expressions. Implications for underlying neural architecture and emotional functions are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. A common polymorphism in a Williams syndrome gene predicts amygdala reactivity and extraversion in healthy adults

    Science.gov (United States)

    Swartz, Johnna R.; Waller, Rebecca; Bogdan, Ryan; Knodt, Annchen R.; Sabhlok, Aditi; Hyde, Luke W.; Hariri, Ahmad R.

    2015-01-01

    Background Williams syndrome (WS), a genetic disorder resulting from hemizygous microdeletion of chromosome 7q11.23, has emerged as a model for identifying the genetic architecture of socioemotional behavior. Recently, common polymorphisms in GTF2I, which is found within the WS microdeletion, have been associated with reduced social anxiety in the general population. Identifying neural phenotypes affected by these polymorphisms will help advance our understanding not only of this specific genetic association but also the broader neurogenetic mechanisms of variability in socioemotional behavior. Methods Through an ongoing parent protocol, the Duke Neurogenetics Study, we measured threat-related amygdala reactivity to fearful and angry facial expressions using functional MRI (fMRI), assessed trait personality using the Revised NEO Personality Inventory, and imputed GTF2I rs13227433 from saliva-derived DNA using custom Illumina arrays. Participants included 808 non-Hispanic Caucasian, African American, and Asian university students. Results The GTF2I rs13227433 AA genotype, previously associated with lower social anxiety, predicted decreased threat-related amygdala reactivity. An indirect effect of GTF2I genotype on the warmth facet of extraversion was mediated by decreased threat-related amygdala reactivity in women but not men. Conclusions A common polymorphism in the WS gene GTF2I associated with reduced social anxiety predicts decreased threat-related amygdala reactivity, which mediates an association between genotype and increased warmth in women. These results are consistent with reduced threat-related amygdala reactivity in WS and suggest that common variation in GTF2I contributes to broader variability in socioemotional brain function and behavior, with implications for understanding the neurogenetic bases of WS as well as social anxiety. PMID:26853120

  7. William Wilde: Historian.

    Science.gov (United States)

    Geary, L

    2016-05-01

    This essay attempts to assess William Wilde as a social historian. It examines some of his contributions to the discipline of history and looks particularly at 'The food of the Irish', which was published in the Dublin University Magazine in February 1854.

  8. 75 FR 39910 - Prince William Sound Resource Advisory Committee; Meeting

    Science.gov (United States)

    2010-07-13

    ... DEPARTMENT OF AGRICULTURE Forest Service Prince William Sound Resource Advisory Committee; Meeting AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Prince William Sound Resource..., Anchorage, Alaska 99503. Send written comments to Prince William Sound Resource Advisory Committee, c/o USDA...

  9. What Do Parents Want?: An Analysis of Education-Related Comments Made by Parents of Children with Different Genetic Syndromes.

    Science.gov (United States)

    Fidler, Deborah J.; Lawson, John E.; Hodapp, Robert M.

    2003-01-01

    An analysis of educational desires found parents of children with Down syndrome (n=39) wanted changes in speech therapy and reading services, parents of children with Prader-Willi syndrome (n=25) wanted increases in adaptive physical education services, and parents of children with Williams syndrome (n=26) wanted increases in music services and…

  10. 33 CFR 161.60 - Vessel Traffic Service Prince William Sound.

    Science.gov (United States)

    2010-07-01

    ... William Sound. 161.60 Section 161.60 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND... Movement Reporting System Areas and Reporting Points § 161.60 Vessel Traffic Service Prince William Sound... Cape Hinchinbrook Light to Schooner Rock Light, comprising that portion of Prince William Sound between...

  11. Discoverers of the universe William and Caroline Herschel

    CERN Document Server

    Hoskin, Michael

    2011-01-01

    Discoverers of the Universe tells the gripping story of William Herschel, the brilliant, fiercely ambitious, emotionally complex musician and composer who became court astronomer to Britain's King George III, and of William's sister, Caroline, who assisted him in his observations of the night sky and became an accomplished astronomer in her own right. Together, they transformed our view of the universe from the unchanging, mechanical creation of Newton's clockmaker god to the ever-evolving, incredibly dynamic cosmos that it truly is. William was in his forties when his amateur observations usi

  12. The Dance of the Dead Rhino: William Kentridge’s Magic Flute

    OpenAIRE

    Guarracino, Serena

    2010-01-01

    The article offers a reading of the staging of The Magic Flute by visual artist William Kentridge, focusing on his introduction of the rhino in the visual landscape of the opera as symbol for the silenced subject of violence. Operatic tradition has always been concerned with the staging of death, in particular with the death of its female protagonists, and recent scholarship has highlighted the complicity of the genre with the ideology of Western patriarchy and colonial violence. In this ligh...

  13. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    DEFF Research Database (Denmark)

    Kjaergaard, S; Sundberg, K; Jørgensen, F S

    2010-01-01

    The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndrome...... and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting....

  14. The William and Flora Hewlett Foundation | IDRC - International ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    The William and Flora Hewlett Foundation. The William and Flora Hewlett Foundation. http://www.hewlett.org/. Think Tank Initiative. This initiative is creating high-quality independent research and policy institutions throughout the developing world. View more. Think Tank Initiative. Growth and Economic Opportunities for ...

  15. The rhetorical strategy of William Paley's Natural theology (1802): part 1, William Paley's Natural theology in context.

    Science.gov (United States)

    O'Flaherty, Niall

    2010-03-01

    This article reconstructs the historical and philosophical contexts of William Paley's Natural theology (1802). In the wake of the French Revolution, widely believed to be the embodiment of an atheistic political credo, the refutation of the transmutational biological theories of Buffon and Erasmus Darwin was naturally high on Paley's agenda. But he was also responding to challenges arising from his own moral philosophy, principally the psychological quandary of how men were to be kept in mind of the Creator. It is argued here that Natural theology was the culmination of a complex rhetorical scheme for instilling religious impressions that would increase both the virtue and happiness of mankind. Philosophy formed an integral part of this strategy, but it did not comprise the whole of it. Equally vital were those purely rhetorical aspects of the discourse which, according to Paley, were more concerned with creating 'impression'. This facet of his writing is explored in part one of this two-part article. Turning to the argumentative side of the scheme, part two examines Paley's responses to David Hume and Erasmus Darwin in the light of the wider strategy of inculcation at work throughout all his writings.

  16. 34 CFR 685.100 - The William D. Ford Federal Direct Loan Program.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false The William D. Ford Federal Direct Loan Program. 685...) OFFICE OF POSTSECONDARY EDUCATION, DEPARTMENT OF EDUCATION WILLIAM D. FORD FEDERAL DIRECT LOAN PROGRAM Purpose and Scope § 685.100 The William D. Ford Federal Direct Loan Program. (a) Under the William D. Ford...

  17. Recent paleoseismicity record in Prince William Sound, Alaska, USA

    Science.gov (United States)

    Kuehl, Steven A.; Miller, Eric J.; Marshall, Nicole R.; Dellapenna, Timothy M.

    2017-12-01

    Sedimentological and geochemical investigation of sediment cores collected in the deep (>400 m) central basin of Prince William Sound, along with geochemical fingerprinting of sediment source areas, are used to identify earthquake-generated sediment gravity flows. Prince William Sound receives sediment from two distinct sources: from offshore (primarily Copper River) through Hinchinbrook Inlet, and from sources within the Sound (primarily Columbia Glacier). These sources are found to have diagnostic elemental ratios indicative of provenance; Copper River Basin sediments were significantly higher in Sr/Pb and Cu/Pb, whereas Prince William Sound sediments were significantly higher in K/Ca and Rb/Sr. Within the past century, sediment gravity flows deposited within the deep central channel of Prince William Sound have robust geochemical (provenance) signatures that can be correlated with known moderate to large earthquakes in the region. Given the thick Holocene sequence in the Sound ( 200 m) and correspondingly high sedimentation rates (>1 cm year-1), this relationship suggests that sediments within the central basin of Prince William Sound may contain an extraordinary high-resolution record of paleoseismicity in the region.

  18. Sex and Genes, Part 1: Sexuality and down, Prader-Willi, and Williams Syndromes

    Science.gov (United States)

    Watson, Shelley Lynn; Richards, Deborah A.; Miodrag, Nancy; Fedoroff, J. Paul

    2012-01-01

    Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader-Willi, and Williams…

  19. Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome.

    Science.gov (United States)

    Fisher, M H; Lense, M D; Dykens, E M

    2016-10-01

    Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because of the low prevalence of the syndrome, researchers often include participants with WS across a broad age range throughout childhood and adulthood and assume participants demonstrate consistent cognitive development across ages. Indeed, IQ scores are generally stable for children and adolescents with WS, although there are significant individual differences. It is less clear whether this pattern of stable intellectual ability persists into adulthood. Furthermore, while adaptive behaviour is an important indicator of an individual's ability to apply their conceptual skills to everyday functioning, conflicting findings on the trajectories of adaptive behaviour in adolescents and adults with WS have been reported. The current study examined longitudinal profiles of cognitive and adaptive functioning in adolescents and adults with WS. To examine cognitive functioning, participants included 52 individuals with WS (51.9% men) who were assessed with the Kaufman Brief Intelligence Test, 2nd edition (KBIT-2) between two and seven times. At their first assessment, participants had a mean age of 25.4 years (SD = 8.4), ranging in age from 14.2 to 48.9 years. To assess adaptive behaviour, participants included a subset of 28 individuals with WS whose parents completed the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II) between two and five times. At their initial administration, participants ranged from 17.1-40.2 years of age, with a mean age of 26.5 years (SD = 7.3). A series of multilevel models were used to examine changes in KBIT-2 Composite IQ, Verbal IQ and Nonverbal IQ standard scores over time, as well as the

  20. Northern gas: Williams petrochemical feasibility study

    Energy Technology Data Exchange (ETDEWEB)

    Chappell, D. [Williams Energy Canada, Calgary, AB (Canada)

    2002-07-01

    Williams Energy is a company that is involved in the following fields: gas pipelines, exploration and production, midstream, refining, petrochemical, power, and marketing and trading. The author provides an overview of the global and Canadian infrastructure before proceeding to discuss Arctic gas, which is viewed by Williams Energy as necessary. It favors the Alaska Highway route with a consortium for project development. Williams performed a petrochemical study to determine the feasibility of a petrochemical complex utilizing natural gas liquid from an Arctic gas pipeline. The scope of the study encompassed facilities (extraction plant, cracker, polyolefins plant), size (world scale, approximately 2 billion pounds per year), and location (Fairbanks or Alberta). The study led to the following findings: (1) review of several scenarios for both locations, (2) complex to produce two grades of polyethylene, (3) feedstock cost favors Alaska, (4) construction costs lower in Alberta, (5) and the primary market for the Alaska complex would be northeast Asia, while the primary market for the Alberta location would be the United States. It was determined that both options would be viable, however Alberta was favored due to the polyethylene forecast. The challenges still being faced by Williams include low frac spread, market inefficiencies, empress volumes, carbon dioxide, and fuel and electricity cost. Each of these challenges is discussed separately. The author concludes by indicating that incremental ethane is available, carbon dioxide issues need resolution, and Alberta and Alaska are attractive for Arctic ethane petrochemical production. figs.

  1. Boys, Be Ambitious: William Smith Clark and the Westernisation of Japanese Agricultural Extension in the Meiji Era

    Science.gov (United States)

    Gowen, Garrett; Friedensen, Rachel; Kimball, Ezekiel

    2016-01-01

    This article examines the historiography related to the 1876 founding of Sapporo Agricultural College, the first institution of its kind in Japan. Focusing specifically on the involvement of William Smith Clark, who previously served as the president of the Massachusetts Agricultural College, it argues that the nascent imperial ambitions harboured…

  2. A Mystic in English Literature: William Blake

    Directory of Open Access Journals (Sweden)

    Ali Fahri DOĞAN

    2015-12-01

    Full Text Available Human beings have never been satisfied with this ephemeral world. Perhaps, yearning and desire of rejoining −stemming from the descent from the heaven to the earth− are the emotions felt by the members of both celestial and non-celestial religions. Mysticism, having started with the zeal of people who weren‘t satisfied with this ephemeral world towards the eternal world, aimed at the love of God in the religions where there is a belief of single God. In this article, glancing at the life of a Christian mystic William Blake, we will try to shed light into his mystic thoughts. While studying Blake‘s mystic thoughts, there will be common points with Sufism. Nevertheless, analysis of these common points has been assigned to other studies.

  3. WILLIAM GURNEE SINNIGEN - 20TH CENTURY CLASSICIST AND ROMAN HISTORIAN: BIOGRAPHY & BIBLIOGRAPHY

    Directory of Open Access Journals (Sweden)

    Matthew Gray Marsh

    2016-04-01

    Full Text Available William Gurnee Sinnigen was a Classicist and Roman historian, active in the mid-to-late 20th century. Trained at the University of Michigan by noted Roman administrative historian Arthur E. R. Boak, Sinnigen continued his mentor’s work in administrative history, producing several articles on different aspects of Roman and Byzantine administrative topics.  Sinnigen was also responsible for the revision and update of Boak’s acclaimed textbook on Roman history, as well as Charles Alexander Robinson’s textbook on Ancient history.  This article will provide a brief biography of Professor Sinnigen, along with a bibliography of his published works and reviews by other scholars of his work.

  4. Review article: the functional abdominal pain syndrome.

    Science.gov (United States)

    Sperber, A D; Drossman, D A

    2011-03-01

    Functional abdominal pain syndrome (FAPS) is a debilitating disorder with constant or nearly constant abdominal pain, present for at least 6 months and loss of daily functioning. To review the epidemiology, pathophysiology and treatment of FAPS. A literature review using the keywords: functional abdominal pain, chronic abdominal pain, irritable bowel syndrome and functional gastrointestinal disorders. No epidemiological studies have focused specifically on FAPS. Estimates of prevalence range from 0.5% to 1.7% and tend to show a female predominance. FAPS pathophysiology appears unique in that the pain is caused primarily by amplified central perception of normal visceral input, rather than by enhanced peripheral stimulation from abdominal viscera. The diagnosis of FAPS is symptom-based in accordance with the Rome III diagnostic criteria. These criteria are geared to identify patients with severe symptoms as they require constant or nearly constant abdominal pain with loss of daily function and are differentiated from IBS based on their non-association with changes in bowel habit, eating or other gut-related events. As cure is not feasible, the aims of treatment are reduced suffering and improved quality of life. Treatment is based on a biopsychosocial approach with a therapeutic patient-physician partnership at its base. Therapeutic options include central nonpharmacological and pharmacological modalities and peripheral modalities. These can be combined to produce an augmentation effect. Although few studies have assessed functional abdominal pain syndrome or its treatment specifically, the treatment strategies outlined in this paper appear to be effective. © 2011 Blackwell Publishing Ltd.

  5. Common and distinct neural correlates of facial emotion processing in social anxiety disorder and Williams syndrome: A systematic review and voxel-based meta-analysis of functional resonance imaging studies.

    Science.gov (United States)

    Binelli, C; Subirà, S; Batalla, A; Muñiz, A; Sugranyés, G; Crippa, J A; Farré, M; Pérez-Jurado, L; Martín-Santos, R

    2014-11-01

    Social Anxiety Disorder (SAD) and Williams-Beuren Syndrome (WS) are two conditions which seem to be at opposite ends in the continuum of social fear but show compromised abilities in some overlapping areas, including some social interactions, gaze contact and processing of facial emotional cues. The increase in the number of neuroimaging studies has greatly expanded our knowledge of the neural bases of facial emotion processing in both conditions. However, to date, SAD and WS have not been compared. We conducted a systematic review of functional magnetic resonance imaging (fMRI) studies comparing SAD and WS cases to healthy control participants (HC) using facial emotion processing paradigms. Two researchers conducted comprehensive PubMed/Medline searches to identify all fMRI studies of facial emotion processing in SAD and WS. The following search key-words were used: "emotion processing"; "facial emotion"; "social anxiety"; "social phobia"; "Williams syndrome"; "neuroimaging"; "functional magnetic resonance"; "fMRI" and their combinations, as well as terms specifying individual facial emotions. We extracted spatial coordinates from each study and conducted two separate voxel-wise activation likelihood estimation meta-analyses, one for SAD and one for WS. Twenty-two studies met the inclusion criteria: 17 studies of SAD and five of WS. We found evidence for both common and distinct patterns of neural activation. Limbic engagement was common to SAD and WS during facial emotion processing, although we observed opposite patterns of activation for each disorder. Compared to HC, SAD cases showed hyperactivation of the amygdala, the parahippocampal gyrus and the globus pallidus. Compared to controls, participants with WS showed hypoactivation of these regions. Differential activation in a number of regions specific to either condition was also identified: SAD cases exhibited greater activation of the insula, putamen, the superior temporal gyrus, medial frontal regions and

  6. 76 FR 44893 - Prince William Sound Resource Advisory Committee

    Science.gov (United States)

    2011-07-27

    ... DEPARTMENT OF AGRICULTURE Forest Service Prince William Sound Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Prince William Sound Resource Advisory... District, 145 Forest Station Road, Girdwood, AK; Prince Willam Sound Community College, 303 Lowe Street...

  7. 33 CFR 165.1704 - Prince William Sound, Alaska-regulated navigation area.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false Prince William Sound, Alaska... District § 165.1704 Prince William Sound, Alaska-regulated navigation area. (a) The following is a... Hinchinbrook Light to Schooner Rock Light, comprising that portion of Prince William Sound between 146°30′ W...

  8. Florence Jessie Mac Williams

    Indian Academy of Sciences (India)

    CPMGIKAlBGE-340/2003-05. Resonance - January 2005. Licenced to post WPP No.6 RT Nagar Postoffice. Florence Jessie Mac Williams. (1917 - 1990). Registered with Registrar of Newspapers in India vide Regn. No. 66273/96. ISSN 0971-8044. Price per copy: Rs 40.

  9. Mailability v. the Crusader: Williams v. O'Brien.

    Science.gov (United States)

    Simmons, Charles E.

    The issues of prior restraint and press censorship are examined in this paper, which focuses on the 1970 Williams v. O'Brien court case. The paper discusses the litigation, in which Robert F. Williams, as an American citizen living in Peking, China, sued the United States Postmaster General over the banning of the May 1967 issue of "The…

  10. David Owen WILLIAMS

    CERN Multimedia

    2006-01-01

    Lidy Williams-Oonk and her children Mark & Marietta, being unable to thank everybody individually, would like to express their sincere thanks to friends and colleagues at CERN and abroad for their great help and support, their messages and flowers, as well as their donations to the Ligue Genevoise contre le Cancer, on the death of their beloved husband and father.

  11. 77 FR 19301 - Prince William Sound Regional Citizens' Advisory Council Charter Renewal

    Science.gov (United States)

    2012-03-30

    ... DEPARTMENT OF HOMELAND SECURITY Coast Guard [USCG-2012-0099] Prince William Sound Regional... Prince William Sound Regional Citizens' Advisory Council (PWSRCAC) as an alternative voluntary advisory group for Prince William Sound, Alaska. This certification allows the PWSRCAC to monitor the activities...

  12. Interaction with William Carnall

    International Nuclear Information System (INIS)

    Judd, Brian R.

    2005-01-01

    A personal account is given of interaction with William T. Carnall during the period 1977-1988, when I made regular visits to the Argonne National Laboratory to discuss the theoretical background to the spectroscopic work he was carrying out on the lanthanides and actinides

  13. Abnormalities in early visual processes are linked to hypersociability and atypical evaluation of facial trustworthiness: An ERP study with Williams syndrome.

    Science.gov (United States)

    Shore, Danielle M; Ng, Rowena; Bellugi, Ursula; Mills, Debra L

    2017-10-01

    Accurate assessment of trustworthiness is fundamental to successful and adaptive social behavior. Initially, people assess trustworthiness from facial appearance alone. These assessments then inform critical approach or avoid decisions. Individuals with Williams syndrome (WS) exhibit a heightened social drive, especially toward strangers. This study investigated the temporal dynamics of facial trustworthiness evaluation in neurotypic adults (TD) and individuals with WS. We examined whether differences in neural activity during trustworthiness evaluation may explain increased approach motivation in WS compared to TD individuals. Event-related potentials were recorded while participants appraised faces previously rated as trustworthy or untrustworthy. TD participants showed increased sensitivity to untrustworthy faces within the first 65-90 ms, indexed by the negative-going rise of the P1 onset (oP1). The amplitude of the oP1 difference to untrustworthy minus trustworthy faces was correlated with lower approachability scores. In contrast, participants with WS showed increased N170 amplitudes to trustworthy faces. The N170 difference to low-high-trust faces was correlated with low approachability in TD and high approachability in WS. The findings suggest that hypersociability associated with WS may arise from abnormalities in the timing and organization of early visual brain activity during trustworthiness evaluation. More generally, the study provides support for the hypothesis that impairments in low-level perceptual processes can have a cascading effect on social cognition.

  14. Seguridad social, empleo y propiedad privada en William Beveridge

    Directory of Open Access Journals (Sweden)

    Claudio Llanos Reyes

    2013-09-01

    Full Text Available This article aims to approach the economic and political notions of William Beveridge, which proposed the construction of the British Welfare State immediately after WWII. A form of State which sought to overcome the crisis of capitalism by proposing control over the system. We attempt to demonstrate the relation that should exist, according to Beveridge, the "father" of this model of capitalist State, between the development of a social security system, employment, and the situation of private property, while simultaneously pointing out the specifics and complexity of his ideas in the relation observed between full occupation and private property as basic elements for the construction of a Social Security system.

  15. Review article: the pathophysiology, differential diagnosis and management of rumination syndrome.

    Science.gov (United States)

    Tack, J; Blondeau, K; Boecxstaens, V; Rommel, N

    2011-04-01

    Rumination syndrome, characterised by the effortless, often repetitive, regurgitation of recently ingested food into the mouth, was originally described in children and in the developmentally disabled. It is now well-recognised that rumination syndrome occurs in patients of all ages and cognitive abilities. To review a scholarly review on our current understanding of the rumination syndrome. The review was conducted on the basis of a medline search to identify relevant publications pertaining to the pathophysiology, clinical diagnosis and management of rumination syndrome. The Rome III consensus established diagnostic criteria for rumination syndrome in adults, children and infants. A typical history can be highly suggestive but oesophageal (high resolution) manometry/impedance with ingestion of a meal may help to distinguish rumination syndrome from other belching/regurgitation disorders. The pathophysiology is incompletely understood, but involves a rise in intra-gastric pressure, generated by a voluntary, but often unintentional, contraction of the abdominal wall musculature, at a time of low pressure in the lower oesophageal sphincter, causing retrograde movement of gastric contents into the oesophagus. To date, controlled trials in the treatment rumination syndrome are lacking. The mainstay of treatment for rumination syndrome is explanation and behavioural treatment which consists of habit reversal techniques that compete with the urge to regurgitate. Chewing gum, prokinetics, baclofen and even antireflux surgery have been proposed as adjunctive therapies, but high quality studies are generally lacking. Rumination is an under-recognised condition with incompletely understood pathophysiology. Behavioural therapy seems effective, but controlled treatment trials are lacking. © 2011 Blackwell Publishing Ltd.

  16. 75 FR 16159 - Prince William Sound Regional Citizens' Advisory Council (PWSRCAC) Charter Renewal

    Science.gov (United States)

    2010-03-31

    ... DEPARTMENT OF HOMELAND SECURITY Coast Guard [USCG-2010-0121] Prince William Sound Regional... the Prince William Sound Regional Citizens' Advisory Council (PWSRCAC) as an alternative voluntary advisory group for Prince William Sound, Alaska. This certification allows the PWSRCAC to monitor the...

  17. Competências escolares e sociais em crianças e adolescentes com Síndrome de Williams School and social competencies in children and adolescents with Williams Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Yaemi Hayashiuchi

    2012-09-01

    Full Text Available A Síndrome de Williams (SW é uma doença genética e neurocomportamental causada por uma deleção hemizigótica de múltiplos genes na região cromossômica 7q11-23. Caracteriza-se por alterações cognitivas e comportamentais que interferem no ajustamento psicossocial. O objetivo do estudo foi verificar indicadores comportamentais de habilidades nas áreas social, escolar e de realização de atividades de um grupo de crianças e adolescentes com SW e sinais de desatenção e hiperatividade. A amostra foi composta por 22 crianças e adolescentes com diagnóstico clínico e genético de SW entre sete e 18 anos, média de idade 11,6 (desvio padrão 3,7 e suas respectivas mães. Os instrumentos de coleta de dados foram a Escala de Inteligência Wechsler para Crianças, o Inventário dos Comportamentos de Crianças e Adolescentes de seis a 18 anos e um Questionário que avaliou presença de sinais de desatenção e hiperatividade baseado nos critérios clínicos para Transtorno de Déficit de Atenção e Hiperatividade do Manual de Classificação Estatística dos Transtornos Mentais da Associação Americana de Psiquiatria. Os principais resultados apontaram para um elevado número de sinais de desatenção e hiperatividade (90% do total da amostra pontuaram positivamente nesses sinais. Também foram verificados prejuízos graves nas habilidades e competências de desempenho escolar do grupo, diferentemente dos resultados positivos obtidos nas escalas de socialização e prática de esportes. Conclui-se que os resultados positivos encontrados na área social podem agir como fatores protetores para o desenvolvimento de problemas afetivos como isolamento, tristeza, sentimentos de solidão e baixa autoestima.Williams Syndrome (WS is a genetic and neurobehavioral disease caused by a hemizygous deletion of multiples genes in the chromosome region 7q11-23. It is characterized by cognitive and behavioral changes that interfere in psychosocial

  18. From genes to brain development to phenotypic behavior: "dorsal-stream vulnerability" in relation to spatial cognition, attention, and planning of actions in Williams syndrome (WS) and other developmental disorders.

    Science.gov (United States)

    Atkinson, Janette; Braddick, Oliver

    2011-01-01

    Visual information is believed to be processed through two distinct, yet interacting cortical streams. The ventral stream performs the computations needed for recognition of objects and faces ("what" and "who"?) and the dorsal stream the computations for registering spatial relationships and for controlling visually guided actions ("where" and "how"?). We initially proposed a model of spatial deficits in Williams syndrome (WS) in which visual abilities subserved by the ventral stream, such as face recognition, are relatively well developed (although not necessarily in exactly the same way as in typical development), whereas dorsal-stream functions, such as visuospatial actions, are markedly impaired. Since these initial findings in WS, deficits of motion coherence sensitivity, a dorsal-stream function has been found in other genetic disorders such as Fragile X and autism, and as a consequence of perinatal events (in hemiplegia, perinatal brain anomalies following very premature birth), leading to the proposal of a general "dorsal-stream vulnerability" in many different conditions of abnormal human development. In addition, dorsal-stream systems provide information used in tasks of visuospatial memory and locomotor planning, and these systems are closely coupled to networks for attentional control. We and several other research groups have previously shown deficits of frontal and parietal lobe function in WS individuals for specific attention tasks [e.g., Atkinson, J., Braddick, O., Anker, S., Curran, W., & Andrew, R. (2003). Neurobiological models of visuospatial cognition in children with Williams Syndrome: Measures of dorsal-stream and frontal function. Developmental Neuropsychology, 23(1/2), 141-174.]. We have used the Test of Everyday Attention for Children (TEA-Ch) which aims to attempt to separate components of attention with distinct brain networks (selective attention, sustained attention, and attention control-executive function) testing a group of older

  19. Anderson, Prof. Basil Williams

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1964 Honorary. Anderson, Prof. Basil Williams. Date of birth: 3 July 1901. Date of death: 24 February 1984. YouTube; Twitter; Facebook; Blog. Academy News. IAS Logo. 29th Mid-year meeting. Posted on 19 January 2018. The 29th Mid-year meeting of the Academy will be held ...

  20. Series, Prof. George William

    Indian Academy of Sciences (India)

    Home; Fellowship. Fellow Profile. Elected: 1984 Honorary. Series, Prof. George William. Date of birth: 22 February 1920. Date of death: 2 January 1995. YouTube; Twitter; Facebook; Blog. Academy News. IAS Logo. 29th Mid-year meeting. Posted on 19 January 2018. The 29th Mid-year meeting of the Academy will be held ...

  1. Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23.

    Science.gov (United States)

    Muramatsu, Yukako; Tokita, Yoshihito; Mizuno, Seiji; Nakamura, Miho

    2017-02-01

    Williams syndrome (WS) is known for its uneven cognitive abilities, especially the difficulty in visuo-spatial cognition, though there are some inter-individual phenotypic differences. It has been proposed that the difficulty in visuo-spatial cognition of WS patients can be attributed to a haploinsufficiency of some genes located on the deleted region in 7q11.23, based on an examination of atypical deletions identified in WS patients with atypical cognitive deficits. According to this hypothesis, the inter-individual differences in visuo-spatial cognitive ability arise from variations in deletion. We investigated whether there were inter-individual differences in the visuo-spatial constructive abilities of five unrelated WS patients with the typical deletion on chromosome 7q11.23 that includes the candidate genes contributing visuo-spatial difficulty in WS patients. We used tests with three-dimensional factors such as Benton's three-dimensional block construction test, which are considered to be more sensitive than those with only two-dimensional factors. There were diverse inter-individual differences in the visuo-spatial constructive abilities among the present participants who shared the same typical genomic deletion of WS. One of the participants showed almost equivalent performances to typically developing adults in those tests. In the present study, we found a wide range of cognitive abilities in visuo-spatial construction even among the patients with a common deletion pattern of WS. The findings suggest that attributing differences in the phenotypes entirely to genetic factors such as an atypical deletion may not be always correct. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Sensitivity of the autonomic nervous system to visual and auditory affect across social and non-social domains in Williams syndrome

    Directory of Open Access Journals (Sweden)

    Anna Maaria Järvinen

    2012-09-01

    Full Text Available Although individuals with Williams syndrome (WS typically demonstrate an increased appetitive social drive, their social profile is characterized by dissociations, including socially fearless behavior coupled with anxiousness, and distinct patterns of peaks and valleys of ability. The aim of this study was to compare the processing of social and non-social visually and aurally presented affective stimuli, at the levels of behavior and autonomic nervous system (ANS responsivity, in individuals with WS contrasted with a typically developing (TD group, with the view of elucidating the highly sociable and emotionally sensitive predisposition noted in WS. Behavioral findings supported previous studies of enhanced competence in processing social over non-social stimuli by individuals with WS; however, the patterns of ANS functioning underlying the behavioral performance revealed a surprising profile previously undocumented in WS. Specifically, increased heart rate (HR reactivity, and a failure for electrodermal activity (EDA to habituate were found in individuals with WS contrasted with the TD group, predominantly in response to visual social-affective stimuli. Within the auditory domain, greater arousal linked to variation in heart beat period was observed in relation to music stimuli in individuals with WS. Taken together, the findings suggest that the pattern of ANS response in WS is more complex than previously noted, with increased arousal to face and music stimuli potentially underpinning the heightened behavioral emotionality to such stimuli. The lack of habituation may underlie the increased affiliation and attraction to faces characterizing individuals with WS. Future research directions are suggested.

  3. Sensitivity of the Autonomic Nervous System to Visual and Auditory Affect Across Social and Non-Social Domains in Williams Syndrome

    Science.gov (United States)

    Järvinen, Anna; Dering, Benjamin; Neumann, Dirk; Ng, Rowena; Crivelli, Davide; Grichanik, Mark; Korenberg, Julie R.; Bellugi, Ursula

    2012-01-01

    Although individuals with Williams syndrome (WS) typically demonstrate an increased appetitive social drive, their social profile is characterized by dissociations, including socially fearless behavior coupled with anxiousness, and distinct patterns of “peaks and valleys” of ability. The aim of this study was to compare the processing of social and non-social visually and aurally presented affective stimuli, at the levels of behavior and autonomic nervous system (ANS) responsivity, in individuals with WS contrasted with a typically developing (TD) group, with the view of elucidating the highly sociable and emotionally sensitive predisposition noted in WS. Behavioral findings supported previous studies of enhanced competence in processing social over non-social stimuli by individuals with WS; however, the patterns of ANS functioning underlying the behavioral performance revealed a surprising profile previously undocumented in WS. Specifically, increased heart rate (HR) reactivity, and a failure for electrodermal activity to habituate were found in individuals with WS contrasted with the TD group, predominantly in response to visual social affective stimuli. Within the auditory domain, greater arousal linked to variation in heart beat period was observed in relation to music stimuli in individuals with WS. Taken together, the findings suggest that the pattern of ANS response in WS is more complex than previously noted, with increased arousal to face and music stimuli potentially underpinning the heightened behavioral emotionality to such stimuli. The lack of habituation may underlie the increased affiliation and attraction to faces characterizing individuals with WS. Future research directions are suggested. PMID:23049519

  4. The Last Word: An Interview with Frank Pajares--God, the Devil, William James, the Little Prince, and Self-Efficacy

    Science.gov (United States)

    Bembenutty, Hefer

    2007-01-01

    This article presents an interview with Frank Pajares, an internationally recognized scholar in the field of motivation and self-efficacy. During the interview, Pajares talked about William James, what he learned from reading "The Little Prince," his self-efficacy beliefs, and his famous speech wherein he spoke of God, the Devil, and solving the…

  5. Syndrome identification based on 2D analysis software.

    Science.gov (United States)

    Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar

    2006-10-01

    Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams-Beuren syndrome; Prader-Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith-Lemli-Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment.

  6. 33 CFR 167.1701 - In Prince William Sound: Precautionary areas.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false In Prince William Sound: Precautionary areas. 167.1701 Section 167.1701 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF... Traffic Separation Schemes and Precautionary Areas Pacific West Coast § 167.1701 In Prince William Sound...

  7. A MacWilliams Identity for Convolutional Codes : The General Case

    NARCIS (Netherlands)

    Gluesing-Luerssen, Heide; Schneider, Gert

    A MacWilliams Identity for convolutional codes will be established. It makes use of the weight adjacency matrices of the code and its dual, based on state space realizations (the controller canonical form) of the codes in question. The MacWilliams Identity applies to various notions of duality

  8. 78 FR 28953 - William D. Ford Federal Direct Loan Program

    Science.gov (United States)

    2013-05-16

    .... Ford Federal Direct Loan Program; Interim Final Rule #0;#0;Federal Register / Vol. 78, No. 95... [Docket ID ED-2013-OPE-0066] RIN 1840-AD13 William D. Ford Federal Direct Loan Program AGENCY: Office of... Secretary amends the William D. Ford Federal Direct Loan Program (Direct Loan Program) regulations to...

  9. Prince William Sound, Alaska ESI: INDEX

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...

  10. 76 FR 1187 - Application for Recertification of Prince William Sound Regional Citizens' Advisory Council

    Science.gov (United States)

    2011-01-07

    ... Prince William Sound Regional Citizens' Advisory Council AGENCY: Coast Guard, DHS. ACTION: Notice of... on, the application for recertification submitted by the Prince William Sound Regional Citizen's... advisory group in lieu of a Regional Citizens' Advisory Council for Prince William Sound, Alaska. This...

  11. A MacWilliams Identity for Convolutional Codes: The General Case

    OpenAIRE

    Gluesing-Luerssen, Heide; Schneider, Gert

    2008-01-01

    A MacWilliams Identity for convolutional codes will be established. It makes use of the weight adjacency matrices of the code and its dual, based on state space realizations (the controller canonical form) of the codes in question. The MacWilliams Identity applies to various notions of duality appearing in the literature on convolutional coding theory.

  12. Williams Syndrome

    Science.gov (United States)

    ... of the auditory nerve). For some people, hearing loss may begin as early as late childhood. WS also is associated with a characteristic “cognitive profile” of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial ...

  13. The Politics, Problems, and Potential Promise of School-Linked Social Services: Insights and New Directions from the Work of William Lowe Boyd

    Science.gov (United States)

    Fusarelli, Bonnie C.; Lindle, Jane Clark

    2011-01-01

    The purpose of this article is to illustrate Professor William L. Boyd's insights into the political ecology of schooling and his contributions and collaboration with others concerned about ensuring the well-being of students, families, and communities. Over his career, Boyd investigated the subtle and complex organizational constraints to…

  14. Parody and the gas station in William Shakespeare's Romeo and Juliet

    Directory of Open Access Journals (Sweden)

    Avital G. Cykman

    2017-01-01

    Baz Luhrmann’s 1996 film, William Shakespeare'sRomeo and Juliet, is a pop-culture adaptation of the late sixteenth-century play. The cross-references and transgression of allusions and their postmodern subversive statement along with the extreme intensity with which these elements appear in act one, scene one, and especially in the scene placed at a gas station produce a self-directed irony, a cutting-edge, if playful combination of references that define it as parody in the postmodern sense. Hence, this article examines act one, scene one with a special attention to the gas station sequence, and analyzes it in the light of scholarly definitions of postmodern parody by Linda Hutcheon, John W. Duvall and Douglas Lanier, and of pastiche by Fredric Jameson. Once the hypothesis of parody is established, the article analyzes what the film parodies and in what ways, and what the objective and the impact of the applied humor are.

  15. On Reading Poems: Visual & Verbal Icons in William Carlos Williams' «Landscape With The Fall Of Icarus»

    Directory of Open Access Journals (Sweden)

    Irene R. Fairley

    1981-09-01

    Full Text Available Williams' admiration for Brueghel's landscape is coded in structural and stylistic correspondences between the poem and the painting. Structures in the poem have effects analogous to the use of devices of color, line, foregrounding in the painting. The poem, like the painting, presents a «neutral» scene but subtly insures the reader's involvement. Further, Williams draws a visual statement so that graphic features suggest a global image isomorphic with the motif of descent. Features of the poem, such as line and clause length, syntactic construction, semantic coherence, are discussed as factors that contribute to rapid glancing and increase readability. A study of readers shows their sensitivity to graphic features including the poem's shape, and corroborates the importance of stylistic features.

  16. Interview: William and Barbara Christopher.

    Science.gov (United States)

    Teaching Exceptional Children, 1986

    1986-01-01

    Asserting that the biggest mistake educators can make is to set themselves up as experts vis-a-vis parents as amateurs, Barbara and William Christopher emphasize the importance of continued education for the autistic individual and relate their experiences with the educational community as they sought help for their autistic son. (JC)

  17. 78 FR 11857 - Agency Information Collection Activities; Comment Request; William D. Ford Federal Direct Loan...

    Science.gov (United States)

    2013-02-20

    ...; Comment Request; William D. Ford Federal Direct Loan Program (DL) Regulations AGENCY: Department of... in response to this notice will be considered public records. Title of Collection: William D. Ford.... Abstract: The William D. Ford Federal Direct Loan Program regulations cover areas of program administration...

  18. Rorty, Williams, and Davidson: Skepticism and Metaepistemology

    Directory of Open Access Journals (Sweden)

    Christopher Ranalli

    2013-07-01

    Full Text Available We revisit an important exchange on the problem of radical skepticism between Richard Rorty and Michael Williams. In his contribution to this exchange, Rorty defended the kind of transcendental approach to radical skepticism that is offered by Donald Davidson, in contrast to Williams’s Wittgenstein-inspired view. It is argued that the key to evaluating this debate is to understand the particular conception of the radical skeptical problem that is offered in influential work by Barry Stroud, a conception of the skeptical problem which generates metaepistemological ramifications for anti-skeptical theories. In particular, we argue that, contra Williams, Rorty’s view that Davidson was offering a theoretical diagnosis of radical skepticism can be consistently maintained with his transcendental approach.

  19. Pharmacological Approach for Managing Pain in Irritable Bowel Syndrome: A Review Article

    Science.gov (United States)

    Chen, Longtu; Ilham, Sheikh J.; Feng, Bin

    2017-01-01

    Context Visceral pain is a leading symptom for patients with irritable bowel syndrome (IBS) that affects 10% - 20 % of the world population. Conventional pharmacological treatments to manage IBS-related visceral pain is unsatisfactory. Recently, medications have emerged to treat IBS patients by targeting the gastrointestinal (GI) tract and peripheral nerves to alleviate visceral pain while avoiding adverse effects on the central nervous system (CNS). Several investigational drugs for IBS also target the periphery with minimal CNS effects. Evidence of Acquisition In this paper, reputable internet databases from 1960 - 2016 were searched including Pubmed and ClinicalTrials.org, and 97 original articles analyzed. Search was performed based on the following keywords and combinations: irritable bowel syndrome, clinical trial, pain, visceral pain, narcotics, opioid, chloride channel, neuropathy, primary afferent, intestine, microbiota, gut barrier, inflammation, diarrhea, constipation, serotonin, visceral hypersensitivity, nociceptor, sensitization, hyperalgesia. Results Certain conventional pain managing drugs do not effectively improve IBS symptoms, including NSAIDs, acetaminophen, aspirin, and various narcotics. Anxiolytic and antidepressant drugs (Benzodiazepines, TCAs, SSRI and SNRI) can attenuate pain in IBS patients with relevant comorbidities. Clonidine, gabapentin and pregabalin can moderately improve IBS symptoms. Lubiprostone relieves constipation predominant IBS (IBS-C) while loperamide improves diarrhea predominant IBS (IBS-D). Alosetron, granisetron and ondansetron can generally treat pain in IBS-D patients, of which alosetron needs to be used with caution due to cardiovascular toxicity. The optimal drugs for managing pain in IBS-D and IBS-C appear to be eluxadoline and linaclotide, respectively, both of which target peripheral GI tract. Conclusions Conventional pain managing drugs are in general not suitable for treating IBS pain. Medications that target

  20. Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles.

    Science.gov (United States)

    Di Nuovo, Santo; Buono, Serafino

    2011-10-30

    The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  1. Variability of the cranial and dental phenotype in Williams syndrome.

    Science.gov (United States)

    Axelsson, Stefan

    2005-01-01

    Williams syndrome (WS) is a rare congenital disorder involving the cardiovascular system, connective tissue, and the central nervous system, resulting in mild to moderate mental retardation, a specific cognitive profile, unique personality characteristics, distinctive facial features, and cardiovascular disease. The majority of individuals with a clinical diagnosis of WS have a contiguous gene deletion at chromosome 7 (7q11.23). Physical features include characteristic facial features with full prominent cheeks, wide mouth, long philtrum, small nose with depressed nasal bridge, heavy orbital ridges, medial eyebrow flare, dental abnormalities, hoarse voice, growth retardation, and cardiovascular abnormalities (most commonly supravalvular aortic stenosis and/or peripheral pulmonary artery stenosis). The cognitive profile is distinctive, consisting of strengths in auditory memory, language, and face-processing, but extreme weakness in visuospatial, numerical and problem-solving abilities. Neurological studies have identified a significantly decreased brain volume in adult individuals with WS with relatively normal development of the limbic, frontal and cerebellar structures. The aims were to analyse the neurocranium, the craniofacial region, and the dentition in a well defined Norwegian group of individuals with WS. In order to accomplish this, normative cephalometric standards for the neurocranium, including the cranial base and the sella turcica, were established for Norwegian males and females from 6 to 21 years of age, using lateral radiographic cephalograms from the Oslo University Craniofacial Growth Archive. The study material comprised radiographic lateral cephalograms, orthopantomograms and dental casts from 62 individuals with WS ranging from 4 to 44 years. The lateral cephalograms, orthopantomograms and dental casts were analysed using standard methods reported in the literature. Neurocranium: The results from the cephalometric analyses showed that the size

  2. Prince William Sound, Alaska ESI: HYDRO (Hydrology)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...

  3. Prince William Sound, Alaska ESI: INVERT (Invertebrates)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...

  4. Mr. William Shakespeare and the Internet.

    Science.gov (United States)

    Reeves, Barbara

    2000-01-01

    Describes resources and links on a Web site entitled "Mr. William Shakespeare and the Internet," with suggestions for using them with students. Highlights include: historical context; impact of events/situations on works; motivational/preparatory lessons; reading and understanding Shakespeare; analysis of works; language; assessing other…

  5. MacWilliams Identity for M-Spotty Weight Enumerator

    Science.gov (United States)

    Suzuki, Kazuyoshi; Fujiwara, Eiji

    M-spotty byte error control codes are very effective for correcting/detecting errors in semiconductor memory systems that employ recent high-density RAM chips with wide I/O data (e.g., 8, 16, or 32bits). In this case, the width of the I/O data is one byte. A spotty byte error is defined as random t-bit errors within a byte of length b bits, where 1 le t ≤ b. Then, an error is called an m-spotty byte error if at least one spotty byte error is present in a byte. M-spotty byte error control codes are characterized by the m-spotty distance, which includes the Hamming distance as a special case for t =1 or t = b. The MacWilliams identity provides the relationship between the weight distribution of a code and that of its dual code. The present paper presents the MacWilliams identity for the m-spotty weight enumerator of m-spotty byte error control codes. In addition, the present paper clarifies that the indicated identity includes the MacWilliams identity for the Hamming weight enumerator as a special case.

  6. William Franke, Sulla verità poetica che è superiore alla Storia: Porfirio e la critica filosofica della letteratura William Franke, On the Poetic Truth that is Higher than History: Porphyry and the Philosophical Interpretation of Literature

    Directory of Open Access Journals (Sweden)

    Laura Lucia Rossi

    2010-06-01

    Full Text Available

    In this article we propose the translation of William Franke’s paper On the Poetic Truth that is Higher than History: Porphyry and the Philosophical Criticism of Literature, in which the American scholar presents the hermeneutic method of the ancient commentators of Homer, with particular reference to the critic practice applied by the Neoplatonic Porphyry in his De Antro Nympharum. With this treatment Franke proposes and hopes for the return to an interpretive method, called philosophical or speculative, also for contemporary criticism.

    In questo articolo è presentata la traduzione del saggio di William Franke Sulla verità poetica che è superiore alla Storia: Porfirio e la critica filosofica della letteratura, in cui lo studioso americano presenta il metodo ermeneutico degli antichi commentatori di Omero, con particolare riferimento alla critica praticata dal neoplatonico Porfirio, proponendo e auspicando il ritorno ad una modalità interpretativa, detta filosofica o speculativa, anche per la critica contemporanea.

  7. Religious Experience and its Essentialism in William James and Ghazzali’s Views

    Directory of Open Access Journals (Sweden)

    Ahmad Ebadi

    2016-03-01

    Full Text Available Abstract Religious experience is an approach to which Western thinkers are considered pioneers among whom Schleiermacher is the most prominent. "The essentialism of religious experience" is one of the several approaches that have been adopted in the case of religious experience. Accordingly, the religion that has sides and various dimensions has been reduced to a religious experience and the religious experience is introduced as the essence of religion. What is presented in this article is a comparative study of the essence of religious experience from the perspective of William James and Ghazzāli. Although mystical experience has a different structure form the religious experience and Ghazali as well as other Muslim philosophers and mystics paid more attention to the way of mystical experience, in the works of Ghazali there are also a traces of religious experience and hence, they are adaptable to some aspects of religious experience offered by William James. William James defines the religion “as the feelings, acts, and experiences that can occur for every individual in their solitudes and he believes that feeling is the essential pillar of religion and inherently reinforces it”. Religious experience is the essence of religion and it means that-the truth of the faith is the same as feelings and emotions that emerge from rational reflections on concrete reality as such, and other spiritual, transcendental, mystical and psychological actions are the consequences of these experiences. On the other hand, in the Muslim world, Al-Ghazzali believes that: The ultimate and holy aim of religion is the perception and experience of ultimate truth that can be achieved through good deeds, worship, asceticism and piety. This article tries to find similarities and differences in essence of religious experience of the two thinkers, because it is only in the theory of the essentialism of religious experience that the similarities and differences of

  8. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  9. 33 CFR 164.43 - Automatic Identification System Shipborne Equipment-Prince William Sound.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false Automatic Identification System Shipborne Equipment-Prince William Sound. 164.43 Section 164.43 Navigation and Navigable Waters COAST GUARD... Automatic Identification System Shipborne Equipment—Prince William Sound. (a) Until December 31, 2004, each...

  10. Case report

    African Journals Online (AJOL)

    abp

    2015-11-23

    Nov 23, 2015 ... found the presence of deletion of ELN locus, compatible with. Williams-Beuren syndrome. The diagnosis of Williams-Beuren syndrome was made, and the patient is under observation, with a decline of eight months. Discussion. This paper is about an original case of Williams-Beuren syndrome associated ...

  11. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings.

    Science.gov (United States)

    Dichter, Gabriel S; Damiano, Cara A; Allen, John A

    2012-07-06

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette's syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader-Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  12. Numerology and Ritual in William Faulkner’s As I Lay Dying

    Directory of Open Access Journals (Sweden)

    Afroditi-Maria Panaghis

    2017-07-01

    Full Text Available In As I Lay Dying William Faulkner employs numerology to concretize the ritual of death as well as draw the reader’s attention to its function and significance. Although multiple studies have offered detailed analyses of the text, none until today has tackled the subject of numbers in association with the theme of death. The aim of this article is to demonstrate that the writer used numerology in order to present the nihilism of the human condition, to outline the manner by which the experience of nothingness can transform a pessimistic view into an optimistic one, and to show that the process of redemption and transcendence can spring from “the Reductio ad absurdum of all human endeavor” (Volpe 131. The article will also stress that death constitutes a major transitional state through which, Addie, the protagonist, must travel from this world to the next; and elucidate the characters, the plot, and the structure of the novella via the signified nuances attached to the chosen numbers.

  13. Roald Dahl and the complete locked-in syndrome: "Cold dead body, living brain"

    DEFF Research Database (Denmark)

    Kondziella, Daniel

    2017-01-01

    they no longer have any motor output at all. Of note, Roald Dahl, the internationally acclaimed children book author, described this complete locked-in syndrome in one of his short stories, William and Mary (1959), almost half a century before the medical community became aware of this devastating condition......The classical locked-in syndrome in which partially preserved eye movements allow for communication is well-recognized by most neurologists. Yet, it is much less well-known that patients exist who are clearly conscious but have lost all means of communicating it to the outside world because...

  14. 77 FR 43276 - Notice of Proposed Information Collection Requests; Federal Student Aid; William D. Ford Federal...

    Science.gov (United States)

    2012-07-24

    ...; William D. Ford Federal Direct Loan Program General Forbearance Request SUMMARY: Borrowers who receive loans through the William D. Ford Federal Direct Loan Program will use this form to request forbearance... considered public records. Title of Collection: William D. Ford Federal Direct Loan Program General...

  15. Seasonal distribution of Dall's porpoise in Prince William Sound, Alaska

    Science.gov (United States)

    Moran, John R.; O'Dell, Matthew B.; Arimitsu, Mayumi L.; Straley, Janice M.; Dickson, Danielle M. S.

    2018-01-01

    Dall's porpoise, Phocoenoides dalli, are a conspicuous predator in the Prince William Sound ecosystem, yet there has been little effort directed towards monitoring this species since the 1980s, prior to the Exxon Valdez oil spill. We used vessel-based surveys to examine the seasonal distribution of Dall's porpoise in the waters of Prince William Sound during eight years from 2007 to 2015. Over the course of 168 days and 15,653 km of survey effort, 921 Dall's porpoise were encountered in 210 groups. We estimate an encounter rate of 0.061 porpoise/km traveled or 1 porpoise encountered for every 16.5 km traveled. Dall's porpoise were found throughout the year in Prince William Sound, and used a wide range of habitats, including those not considered typical of the species, such as bays, shallow water, and nearshore waters. Dall's porpoise seasonally shifted their center of distribution from the western passages in fall to the bays of the eastern Sound in winter and spring. Dall's porpoises were widely dispersed throughout the Sound in summer. We identified potential Dall's porpoise habitat (depth, slope, and distance from shore) within Prince William Sound using generalized additive models (GAM). Dall's porpoise were found in deeper water during summer and in shallowest water during spring. We propose that their use of novel habitats is a function of reduced predation risk associated with the decline of their main predator, killer whales (Orcinus orca), following the Exxon Valdez oil spill, and the presence of overwintering and spawning Pacific herring (Clupea pallasii). While the size of the Dall's porpoise population within Prince William Sound remains unknown, our encounter rates were lower than those reported in the 1970s. Their high metabolic rate and ubiquitous presence makes them one of the more important, yet understudied, forage fish predators in the region.

  16. USING MULTIMEDIA AND WEB TECHNOLOGIES IN STUDYING THE HUMANITIES. WEB-MULTIMEDIA ENCYCLOPEDIA «WILLIAM SHAKESPEARE AND RENAISSANCE».

    Directory of Open Access Journals (Sweden)

    E. Alferov

    2010-06-01

    Full Text Available The article discusses the use of innovative information technologies in modern education. Special attention is given to the using of web-multimedia technologies in the study of humanities. As an example of using information and communication tools in the process of philological disciplines described purpose, functionality and architecture of web-multimedia encyclopedia «William Shakespeare and Renaissance» (http://shakespeare.ksu.ks.ua, developed in laboratory of the integrated learning environments of the Research Institute of IT.

  17. Issues in the Educational, Psychological Assessment of Visually Impaired Children: Test-Retest Reliability of the Williams Intelligence Test for Children with Defective Vision

    Science.gov (United States)

    Tobin, Michael J.; Hill, Eileen W.

    2011-01-01

    The article discusses some problems confronting teachers and psychologists when making decisions as to how to use the currently available test procedures. It reports data gathered on three separate occasions on the performance of a group of blind and partially sighted children on the Williams Intelligence Test which is the only specialist IQ test…

  18. 77 FR 47374 - Notice of Proposed Information Collection Requests; Federal Student Aid; William D. Ford Federal...

    Science.gov (United States)

    2012-08-08

    ...; William D. Ford Federal Direct Loan (Direct Loan) Program/ Federal Family Loan (FFEL) Program: Deferment... which borrowers in the William D. Ford Federal Direct Loan (Direct Loan) and Federal Family Education... considered public records. Title of Collection: William D. Ford Federal Direct Loan (Direct Loan) Program...

  19. Enough room for Williams and IMF? / Paul Beckman

    Index Scriptorium Estoniae

    Beckman, Paul

    1999-01-01

    Lõppesid Leedu ja USA energeetikakompanii Williams International läbirääkimised Leedu naftakompleksis osaluse omandamise asjus. IMF uurib Leedu majanduslikku arengut, mida tehing Williamsiga komplitseerib

  20. Whither Sir William?

    Directory of Open Access Journals (Sweden)

    Stephen J. Greenberg, MSLS, PhD

    2017-04-01

    Full Text Available There are times when something is simply so familiar that we can no longer see it at all. It can be a story, or a concept, or even a flesh-and-blood person. Familiarity breeds not only contempt, but a kind of invisibility as well. For too many of us, such is the case with Sir William Osler. In his time (1849–1919, many considered him to be one of the greatest practitioners, teachers, and writers ever in the field of medicine. He was instrumental in the founding of the Medical Library Association (MLA and was elected its second president.

  1. ABORDAGEM DIAGNÓSTICA DA SÍNDROME DE WILLIAMS - BEUREN.

    OpenAIRE

    Santos, Marina Machado

    2016-01-01

    As anomalias cromossômicas causam fenótipos específicos e complexos resultantes de desequilíbrios na dose normal de genes localizados em um segmento cromossômico específico, sendo responsáveis por 60 % ou mais das síndromes genéticas identificáveis. A Síndrome de Williams-Beuren (SWB) caracteriza-se por anomalias múltiplas e deficiência intelectual, descrita independentemente por Williams et al. (1961) e por Beuren et al. (1962). A SWB consiste em uma doença genética causada pela microdeleção...

  2. Who Invented the Word Asteroid: William Herschel or Stephen Weston?

    Science.gov (United States)

    Cunningham, Clifford J.; Orchiston, Wayne

    2011-11-01

    William Herschel made the first serious study of 1 Ceres and 2 Pallas in the year 1802. He was moved by their dissimilarities to the other planets to coin a new term to distinguish them. For this purpose he enlisted the aid of his good friends William Watson and Sir Joseph Banks. Watson gave him a long list of possible names, which Herschel rejected. With a lifetime of experience classifying and naming newly found objects in nature, Banks became the man both Erasmus Darwin (in 1781) and William Herschel (in 1802) turned to for sage advice in developing a new descriptive language. In the case of Ceres and Pallas, Banks turned the task over to his friend, the noted philologist Stephen Weston, FRS. It has recently been stated by a noted British historian that it was Weston - not Herschel - who coined the term 'asteroid' to collectively describe Ceres and Pallas. This claim is investigated, and parallels are drawn in the use of neologism in astronomy and botany.

  3. Review article: transient receptor potential channels as possible therapeutic targets in irritable bowel syndrome.

    Science.gov (United States)

    Beckers, A B; Weerts, Z Z R M; Helyes, Z; Masclee, A A M; Keszthelyi, D

    2017-11-01

    Abdominal pain in irritable bowel syndrome (IBS) remains challenging to treat effectively. Researchers have attempted to elucidate visceral nociceptive processes in order to guide treatment development. Transient receptor potential (TRP) channels have been implied in the generation (TRPV1, TRPV4, TRPA1) and inhibition (TRPM8) of visceral pain signals. Pathological changes in their functioning have been demonstrated in inflammatory conditions, and appear to be present in IBS as well. To provide a comprehensive review of the current literature on TRP channels involved in visceral nociception. In particular, we emphasise the clinical implications of these nociceptors in the treatment of IBS. Evidence to support this review was obtained from an electronic database search via PubMed using the search terms "visceral nociception," "visceral hypersensitivity," "irritable bowel syndrome" and "transient receptor potential channels." After screening the abstracts the articles deemed relevant were cross-referenced for additional manuscripts. Recent studies have resulted in significant advances in our understanding of TRP channel mediated visceral nociception. The diversity of TRP channel sensitization pathways is increasingly recognised. Endogenous TRP agonists, including poly-unsaturated fatty acid metabolites and hydrogen sulphide, have been implied in augmented visceral pain generation in IBS. New potential targets for treatment development have been identified (TRPA1 and TRPV4,) and alternative means of affecting TRP channel signalling (partial antagonists, downstream targeting and RNA-based therapy) are currently being explored. The improved understanding of mechanisms involved in visceral nociception provides a solid basis for the development of new treatment strategies for abdominal pain in IBS. © 2017 John Wiley & Sons Ltd.

  4. The scientific legacy of William Herschel

    CERN Document Server

    2018-01-01

    This book presents a modern scholarly analysis of issues associated with England’s most famous astronomer, William Herschel. The world’s leading experts on Herschel, discoverer of the planet Uranus, here offer their combined wisdom on many aspects of his life and astronomical research. Solar system topics include comets, Earth’s Moon, and the spurious moons of Uranus, all objects whose observation was pioneered by Herschel.  The contributors examine his study of the structure of the Milky Way and an in-depth look at the development of the front view telescopes he built. The popular subject of extraterrestrial life is looked at from the point of view of both William Herschel and his son John, both of whom had an interest in the topic. William’s personal development through the educational system of the late eighteenth-century is also explored, and the wide range of verse and satire in various languages associated with his discoveries is collected here for the first time. Hershel worked at a time of i...

  5. Holocene deposition and megathrust splay fault geometries within Prince William Sound, Alaska

    Science.gov (United States)

    Finn, S.; Liberty, L. M.; Haeussler, P. J.; Pratt, T. L.

    2011-12-01

    New high resolution sparker seismic reflection data, in conjunction with reprocessed legacy seismic data, provide the basis for a new fault, fold, and Holocene sediment thickness database for Prince William Sound, Alaska. Additionally, legacy airgun seismic data in Prince William Sound and the Gulf of Alaska tie features on these new sparker data to deeper portions of megathrust splay faults. We correlate regionally extensive bathymetric lineaments within Prince William Sound to megathrust splay faults, such as the ones that ruptured in the 1964 M9.2 earthquake. Lastly, we estimate Holocene sediment thickness within Prince William Sound to better constrain the Holocene fault history throughout the region. We identify three seismic facies related to Holocene, Quaternary, and Tertiary strata that are crosscut by numerous high angle normal faults in the hanging wall of the megathrust splay faults. The crustal-scale seismic reflection profiles show splay faults emerging from 20 km depth between the Yakutat block and North American crust and surfacing as the Hanning Bay and Patton Bay faults. A change in exhumation rates, slip rates, and fault orientation appears near Hinchinbrook that we attribute to differences in subducted slab geometry. Based on our slip rate analysis, we calculate average Holocene displacements of 20 m and 100 m in eastern and western Prince William Sound, respectively. Landward of two splay faults exposed on Montague Island, we observe subsidence, faulting, and landslides that record deformation associated with the 1964 and older megathrust earthquakes.

  6. March 1964 Prince William Sound, USA Images

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Prince William Sound magnitude 9.2 Mw earthquake on March 28, 1964 at 03:36 GMT (March 27 at 5:36 pm local time), was the largest U.S. earthquake ever recorded...

  7. Sono-vigília, aspectos de memória e melatonina em Síndrome de Williams-Beuren: uma revisão de literatura

    Directory of Open Access Journals (Sweden)

    Stella Donadon Santoro

    2014-12-01

    Full Text Available A Síndrome de Williams-Beuren, distúrbio genético (microdeleção na região cromossômica 7q11.23, apresenta como fenótipo aparente habilidade social que contrasta com o mau funcionamento cognitivo global e visuo-espacial, problemas na forma receptiva, estrutural e semântica da comunicação, além de déficits na atenção, hiperatividade e na memória visuoespacial. Outra caracteristica são desordens no ciclo sono-vigília, com sono ineficaz, resistência em ir para a cama, acordares durante a noite e sonolência durante o dia. Uma possibilidade ainda não explorada nesta síndrome seria o padrão anormal na síntese de melatonina, hormônio capaz de modular a qualidade do sono. Considerando que a qualidade do sono é diretamente influenciada pelos níveis de melatonina e que tanto a melatonina quanto o sono são essenciais para o desenvolvimento adequado das funções cognitivas, buscou-se nesta revisão de literatura quais estudos investigaram separadamente e ou correlacionaram estes três aspectos (melatonina, sono-vigília e memória na síndrome de Williams-Beuren. Para busca, foram utilizadas as bases de dados Medline/Pubmed, SciELO e Lilacs, com os seguintes descritores: "Williams Beuren syndrome, síndrome de Williams Beuren, memory, memória, sleep-wake, sono-vigília, melatonin e melatonina", por meio de cruzamento e com o conectivo AND. O levantamento bibliográfico mostrou que não existem na literatura trabalhos que correlacionaram estas três variáveis entre si nem tampouco trabalhos que investigaram a melatonina na síndrome de Williams-Beuren. As investigações sobre sono assim como as investigações sobre memória são criticamente discutidas neste trabalho que ressalta a necessidade de estudos que correlacionem estes parâmetros, bem como outros fatores comportamentais, cognitivos e bioquímicos a eles relacionados.

  8. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  9. Florence Jessie MacWilliams (1917-1990)

    Indian Academy of Sciences (India)

    famous mathematician Oscar Zariski, well known for his work in algebraic geometry, at. Johns Hopkins University, following him to Harvard University to study with him for a year. There was a break in her studies for many years following her marriage in 1941 to. W al ter Mac Williams, an engineer, and the birth and raising of ...

  10. Prince William Sound, Alaska ESI: FISH (Fish Polygons)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...

  11. Prince William Sound, Alaska ESI: NESTS (Bird Nests)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...

  12. Review article: coffee consumption, the metabolic syndrome and non-alcoholic fatty liver disease.

    Science.gov (United States)

    Yesil, A; Yilmaz, Y

    2013-11-01

    Coffee consumption may modulate the risk of the metabolic syndrome (MetS) and non-alcoholic fatty liver disease (NAFLD). To review the experimental, epidemiological and clinical studies investigating the association between coffee consumption and the risk of MetS and NAFLD. A literature search was conducted with the aim of finding original experimental, epidemiological and clinical articles on the association between coffee consumption, MetS and NAFLD. The following databases were used: PubMed, Embase, Scopus and Science Direct. We included articles written in English and published up to July 2013. Three experimental animal studies investigated the effects of coffee in the MetS, whereas five examined whether experimental coffee intake may modulate the risk of fatty liver infiltration. All of the animal studies showed a protective effect of coffee towards the development of MetS and NAFLD. Moreover, we identified eleven epidemiological and clinical studies that met the inclusion criteria. Of them, six were carried out on the risk of the MetS and five on the risk of NAFLD. Four of the six studies reported an inverse association between coffee consumption and the risk of MetS. The two studies showing negative results were from the same study cohort consisting of young persons with a low prevalence of the MetS. All of the epidemiological and clinical studies on NAFLD reported a protective effect of coffee intake. Coffee intake can reduce the risk of NAFLD. Whether this effect may be mediated by certain components of the MetS deserves further investigation. © 2013 John Wiley & Sons Ltd.

  13. William Shakespeare’s“Hamlet”and Oedipus Complex

    Institute of Scientific and Technical Information of China (English)

    迪丽努尔

    2014-01-01

    “Hamlet”is one of the great dramas of William Shakespeare. This paper by describing the relationship between Hamlet and his mother, the Ghost and his uncle, tries to approve that Oedipus complex is the main reason of Hamlet’s kil ing his uncle.

  14. De wereld in 18 lessen: Christopher Williams

    NARCIS (Netherlands)

    Berrebi, S.

    2011-01-01

    Hij is een echte artist’s artist, de conceptuele fotograaf Christopher Williams. Sinds hij in Duitsland woont en werkt, vindt zijn afgewogen werk, dat de fotografie tegelijk eert en ondervraagt, steeds makkelijker onderdak in Europese kunstinstituten, zoals dit voorjaar bij Museum Dhondt-Dhaenens in

  15. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  16. Word-Preserving Arts: Material Inscription, Ekphrasis, and Spatial Form in the Later Work of William Wordsworth

    DEFF Research Database (Denmark)

    Simonsen, Peter

    William Wordsworth, posterity, reading, material inscription, ekphrasis, description, sonnet, portraiture......William Wordsworth, posterity, reading, material inscription, ekphrasis, description, sonnet, portraiture...

  17. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S

    2012-07-01

    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  18. Challenging behavior: Behavioral phenotypes of some genetic syndromes

    Directory of Open Access Journals (Sweden)

    Buha Nataša

    2014-01-01

    Full Text Available Challenging behavior in individuals with mental retardation (MR is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in

  19. Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

    Science.gov (United States)

    Prontera, Paolo; Serino, Domenico; Caldini, Bernardo; Scarponi, Laura; Merla, Giuseppe; Testa, Giuseppe; Muti, Marco; Napolioni, Valerio; Mazzotta, Giovanni; Piccirilli, Massimo; Donti, Emilio

    2014-01-01

    The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language.…

  20. The world in eighteen lessons: Christopher Williams

    NARCIS (Netherlands)

    Berrebi, S.

    2011-01-01

    Conceptual photographer Christopher Williams is a real artist's artist. Ever since he moved to Germany, his measured work, which both reveres and examines the art of photography, has more and more easily found its way into European art institutes, such as this spring at Museum Dhondt-Dhaenens in

  1. Drosophila Model for the Analysis of Genesis of LIM-kinase 1-Dependent Williams-Beuren Syndrome Cognitive Phenotypes: INDELs, Transposable Elements of the Tc1/Mariner Superfamily and MicroRNAs

    Directory of Open Access Journals (Sweden)

    Elena V. Savvateeva-Popova

    2017-09-01

    Full Text Available Genomic disorders, the syndromes with multiple manifestations, may occur sporadically due to unequal recombination in chromosomal regions with specific architecture. Therefore, each patient may carry an individual structural variant of DNA sequence (SV with small insertions and deletions (INDELs sometimes less than 10 bp. The transposable elements of the Tc1/mariner superfamily are often associated with hotspots for homologous recombination involved in human genetic disorders, such as Williams Beuren Syndromes (WBS with LIM-kinase 1-dependent cognitive defects. The Drosophila melanogaster mutant agnts3 has unusual architecture of the agnostic locus harboring LIMK1: it is a hotspot of chromosome breaks, ectopic contacts, underreplication, and recombination. Here, we present the analysis of LIMK1-containing locus sequencing data in agnts3 and three D. melanogaster wild-type strains—Canton-S, Berlin, and Oregon-R. We found multiple strain-specific SVs, namely, single base changes and small INDEls. The specific feature of agnts3 is 28 bp A/T-rich insertion in intron 1 of LIMK1 and the insertion of mobile S-element from Tc1/mariner superfamily residing ~460 bp downstream LIMK1 3′UTR. Neither of SVs leads to amino acid substitutions in agnts3 LIMK1. However, they apparently affect the nucleosome distribution, non-canonical DNA structure formation and transcriptional factors binding. Interestingly, the overall expression of miRNAs including the biomarkers for human neurological diseases, is drastically reduced in agnts3 relative to the wild-type strains. Thus, LIMK1 DNA structure per se, as well as the pronounced changes in total miRNAs profile, probably lead to LIMK1 dysregulation and complex behavioral dysfunctions observed in agnts3 making this mutant a simple plausible Drosophila model for WBS.

  2. William Barlow and the Determination of Atomic Arrangement in Crystals.

    Science.gov (United States)

    Mauskopf, Seymour H

    2015-04-01

    William Barlow (1845-1934) was an important if unconventional scientist, known for having developed the 'closest-packing' atomic models of crystal structure. He resumed an early nineteenth-century tradition of utilizing crystallographical and chemical data to determine atomic arrangements in crystals. This essay recounts Barlow's career and scientific activity in three parts: (a) His place in the tradition of determining atomic arrangement in context of this earlier tradition and of contemporaneous developments of crystallography and chemistry, (b) his unconventional career, and (c) the 'success' of his program to determine atomic arrangements in crystals and its influence on the work of William Lawrence Bragg.

  3. 77 FR 63308 - J. William Foley Incorporated v. United Illuminating Company; Notice of Complaint

    Science.gov (United States)

    2012-10-16

    ... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. EL12-106-000] J. William Foley Incorporated v. United Illuminating Company; Notice of Complaint Take notice that on October 5...) and 825(e), J. William Foley Incorporated (Complainant) filed a formal complaint against United...

  4. Traçando diferentes linhas para o balé: perspectivas políticas do movimento do coreógrafo William Forsythe (1949

    Directory of Open Access Journals (Sweden)

    Rousejanny Silva Ferreira

    2017-05-01

    Full Text Available Este artigo problematiza a feitura e sentidos do balé na contemporaneidade a partir do diálogo entre os estudos da dança e da performance. Como norte desta pesquisa, recorro ao pesquisador André Lepecki para traçar algumas linhas políticas do movimento na dança cênica, focando na expressão do balé e seu desenvolvimento potencial com o coreógrafo norte americano William Forsythe, a frente do Frankfurt Ballet na década de 1990. Forsythe problematizou pontos conceituais e composicionais do balé que desencadearam uma série de questões sobre o modo de entendê-lo na contemporaneidade. ABSTRACT This article discusses the making and contemporary ballet's senses from the dialogue between dance and performance studies. As North of this research, turn to the researcher André Lepecki to plot some political lines of movement in scenic dance, focusing on expression of the ballet and its development potential with the American choreographer William Forsythe, the Frankfurt Ballet in late 1990. Forsythe discussed conceptual and compositional points of the Ballet that triggered a series of questions on how to understand him in contemporary times. KEYWORDS: Ballet; dance studies; William Forsythe.

  5. William James and the Heidelberg fiasco.

    Science.gov (United States)

    Gundlach, Horst

    2018-02-01

    Urged on by his father to become a physician instead of a painter, William James pursued 3 evasion stratagems. First, to avoid becoming a practitioner, he declared that he wanted to specialize in physiology. Based upon this premise, he left for Germany in the spring of 1867. The second step was giving up general physiology and announcing that he would specialize in the nervous system and psychology. Based upon this premise, he declared that he would go to Heidelberg and study with Helmholtz and Wundt. However, he then deferred going there. When, at last, he was urged by an influential friend of his father's to accompany him to Heidelberg, he employed his default stratagem: He simply fled. He returned home after 3 terms in Europe without enrolling at a single university. There is no evidence that he had learned anything there about psychology or experimental psychology, except, possibly, by reading books. James's "Heidelberg fiasco" was the apogee of his evasion of his father's directive. A dense fog of misinformation surrounds his stay in Heidelberg to this day. By analyzing circumstances and context, this article examines the fiasco and places it in the pattern of his behavior during his stay in Europe. Nevertheless, experiencing this fiasco potentially shaped James's ambivalent attitude toward experimental psychology on a long-term basis. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  6. 77 FR 58819 - Notice of Submission for OMB Review; Federal Student Aid; William D. Ford Federal Direct Loan...

    Science.gov (United States)

    2012-09-24

    ... DEPARTMENT OF EDUCATION Notice of Submission for OMB Review; Federal Student Aid; William D. Ford... William D. Ford Federal Direct Loan Program will use this form to request forbearance on their loans when... of Collection: William D. Ford Federal Direct Loan Program General Forbearance Request. OMB Control...

  7. 77 FR 29988 - Notice of Submission for OMB Review; Federal Student Aid; William D. Ford Federal Direct Loan...

    Science.gov (United States)

    2012-05-21

    ... DEPARTMENT OF EDUCATION Notice of Submission for OMB Review; Federal Student Aid; William D. Ford... borrowers in the William D. Ford Federal Direct Loan (Direct Loan) and Federal Family Education Loan (FFEL... of Collection: William D. Ford Federal Direct Loan Program Deferment Request Forms. OMB Control...

  8. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  9. Shepard Award Winners, Part 2: Dr. Tracie Williams

    Centers for Disease Control (CDC) Podcasts

    2009-07-29

    This podcast highlights the accomplishments of Dr. Tracie Williams, recipient of the prestigious 2009 CDC Charles C. Shepard Award.  Created: 7/29/2009 by Centers for Disease Control and Prevention (CDC).   Date Released: 7/29/2009.

  10. Sir William Jenner (1815-1898) and Queen Victoria.

    Science.gov (United States)

    Seddon, David; Queen Victoria

    2004-08-01

    This biographical note outlines the work of Sir William Jenner (1815-1898), court physician 1861-93 and President of the Royal College of Physicians 1881-8. He was the first to distinguish between typhoid and typhus both clinically and pathologically.

  11. Denigrating Carl Rogers: William Coulson's Last Crusade.

    Science.gov (United States)

    Kirschenbaum, Howard

    1991-01-01

    Reviews William Coulson's assertions that Carl Rogers, Abraham Maslow, and he initiated the humanistic education field, that Rogers repudiated his philosophy late in life, and that they owe the nation's parents an apology. Argues that these charges are groundless and provides examples and quotations from Rogers' later writings to show how Rogers…

  12. Läbi legendide William Shakespeare'i poole / Maris Peters

    Index Scriptorium Estoniae

    Peters, Maris

    2010-01-01

    Tutvustus: Wells, Stanley. Kas on tõsi, et Shakespeare ...? / tõlkinud Maris Peters. Tallinn : Argo, 2010. Raamat William Shakespeare kohta käivatest legendidest, kuuldustest ja teooriatest ning tema teoste autorsusest

  13. William and Caroline Herschel pioneers in late 18th-century astronomy

    CERN Document Server

    Hoskin, Michael

    2013-01-01

    This beautifully structured book presents the essentials of William and Caroline Herschel's pioneering achievements in late 18th-century astronomy. Michael Hoskin shows that William Herschel was the first observational cosmologist and one of the first observers to attack the sidereal universe beyond the solar system:Herschel built instruments far better than any being used at the royal observatory. Aided by his sister Caroline, he commenced a great systematic survey that led to his discovery of Uranus in 1781.Unlike observers before him, whose telescopes did not reveal them as astronomical obj

  14. Two Project Methods: Preliminary Observations on the Similarities and Differences between William Heard Kilpatrick's Project Method and John Dewey's Problem-Solving Method

    Science.gov (United States)

    Sutinen, Ari

    2013-01-01

    The project method became a famous teaching method when William Heard Kilpatrick published his article "Project Method" in 1918. The key idea in Kilpatrick's project method is to try to explain how pupils learn things when they work in projects toward different common objects. The same idea of pupils learning by work or action in an…

  15. Herbert Hoover and William Shakespeare: Two Writers on Ethics.

    Science.gov (United States)

    Somers, Margaret L.

    1979-01-01

    Outlines the ways in which Herbert Hoover and William Shakespeare wrote about professional ethics (for engineers and kings, respectively) using the writing techniques of concreteness, audience awareness, and development by induction. (TJ)

  16. Assessing Fidelity to Suicide Reporting Guidelines in Canadian News Media: The Death of Robin Williams.

    Science.gov (United States)

    Creed, Michael; Whitley, Rob

    2017-05-01

    Mindset is a short recently-published booklet funded by the Mental Health Commission of Canada outlining evidence-based guidelines and best practices for journalists writing about mental health and suicide. Our study aimed to assess fidelity to Mindset recommendations in Canadian newspaper reports of a recent celebrity suicide. A secondary aim is to identify common themes discussed in these newspaper articles. Articles about Robin Williams' suicide from major Canadian newspapers were gathered and coded for presence or absence of each of the 14 recommendations in the "Covering Suicide" section of Mindset. A threshold of 80% was set to test for high fidelity to the guidelines. A qualitative content analysis of the articles was also undertaken to discern common themes and social issues discussed in the articles. Fifty-five per cent of articles surpassed the 80% threshold for high fidelity, while 85% applied at least 70% of the recommendations. The recommendation most commonly overlooked was "Do tell others considering suicide how they can get help," which was absent in 73% of articles. The most common themes discussed were those of addictions and stigma. The news articles generally follow the evidence-based guidelines regarding the reporting of suicide set out in Mindset. This is a welcome development. Future research should continue to examine reporting of suicide to assess for further improvements, while also examining the wider impact of Mindset on the reporting of mental illness per se.

  17. 78 FR 45515 - Agency Information Collection Activities; Comment Request; William D. Ford Federal Direct Loan...

    Science.gov (United States)

    2013-07-29

    ... DEPARTMENT OF EDUCATION [Docket No.: ED-2013-ICCD-0099] Agency Information Collection Activities; Comment Request; William D. Ford Federal Direct Loan Program Repayment Plan Selection Form AGENCY... notice will be considered public records. Title of Collection: William D. Ford Federal Direct Loan...

  18. William Watson Cheyne (1852-1932): a life in medicine and his innovative surgical treatment of congenital hydrocephalus.

    Science.gov (United States)

    Watson, Caroline C; Griessenauer, Christoph J; Loukas, Marios; Blount, Jeffrey P; Tubbs, R Shane

    2013-11-01

    William Watson Cheyne lived and trained during a period of great advances in medical knowledge and surgical techniques. Despite his various contributions to the fields of bacteriology and surgery, little is known about his career or his life apart from his affiliations with Joseph Lister. This article aims to identify Cheyne as a pioneer in the treatment of congenital hydrocephalus and sheds light on the man who existed in Lister's shadow for most of his life. Cheyne's technique for surgical intervention of hydrocephalus was a great turning point and contributes to the current treatment strategy utilized today for hydrocephalus.

  19. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  20. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  1. 78 FR 52169 - Agency Information Collection Activities; Comment Request; William D. Ford Federal Direct Loan...

    Science.gov (United States)

    2013-08-22

    ... DEPARTMENT OF EDUCATION [Docket No. ED-2013-ICCD-0109] Agency Information Collection Activities; Comment Request; William D. Ford Federal Direct Loan (Direct Loan) Program Federal Direct PLUS Loan Master... to this notice will be considered public records. Title of Collection: William D. Ford Federal Direct...

  2. 'Report of the Committee on Mediumistic Phenomena', by William James (1886): With an introduction by.

    Science.gov (United States)

    Alvarado, Carlos S

    2016-03-01

    Mediumship was a topic of great interest to some nineteenth-century students of mental phenomena. Together with the phenomena of hypnosis and other manifestations, mediumship was seen by many as a dissociative phenomenon. The purpose of this Classic Text is to present an excerpt of an article about the topic that William James (1842-1910) published in 1886 in the Proceedings of the American Society for Psychical Research about American medium Leonora E. Piper (1857-1950). The article, an indication of late nineteenth-century interactions between dissociation studies and psychical research, was the first report of research with Mrs Piper, a widely investigated medium of great importance for the development of mediumship studies. In addition to studying the case as a dissociative experience, James explored the possibility that Piper's mentation contained verifiable information suggestive of 'supernormal' knowledge. Consequently, James provides an example of a topic neglected in historical studies, the ideas of those who combined conventional dissociation studies with psychical research. © The Author(s) 2016.

  3. Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2015-10-01

    Full Text Available The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS. It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the causative gene. Much attention is given to the basic directions of treating patients with Angelman syndrome: organization of regime, syndromic treatment, providing psychological, speech therapy, orthopedic services, occupational therapy, activities aimed at social adaptation. This article contains the latest information about modern progressive directions of AS medical management. To optimize the diagnostic and therapeutic process, data about international Angelman syndrome foundations are shown.

  4. William Basse’s Polyhymnia and the Poetry of Service

    Directory of Open Access Journals (Sweden)

    Ben Crabstick

    2015-03-01

    Full Text Available The career of the little-known seventeenth-century poet William Basse (c. 1583-1653? combined two distinctive elements. He served, in the first instance, as a ‘retainer’ to the Wenman family of Thame Park in Oxfordshire for a period of more than forty years. He was also, however, a published poet who produced a substantial body of verse which reflected and intertwined with his career in service. The article aims to stimulate interest in Basse by drawing attention to a manuscript collection of his poems which remains unpublished and has until now been considered ‘lost’ in scholarly accounts of the poet. The Polyhymnia, held at Chetham’s Library in Manchester, was prepared as a gift in the late 1640s or early 1650s for relations of the Wenmans who lived on the nearby Rycote estate. It brought together poems from across the course of Basse’s career, and displayed him writing in a wide variety of forms and genres. The article summarises current knowledge of Basse’s life in service, sets out the context of the Polyhymnia as a manuscript apparently designed to fortify the links between Thame Park and Rycote, and explores the importance of Basse’s perspective as a servant to some of the more intriguing poems in the collection. It concludes by suggesting some of the ways in which a renewed focus upon Basse might contribute to study of the links between service and literature in the future.

  5. Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

    Science.gov (United States)

    Abel, Emily A; Tonnsen, Bridgette L

    2017-10-01

    Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Introduction to William Stephenson's quest for a science of subjectivity.

    Science.gov (United States)

    Good, James M M

    2010-01-01

    In this introduction to the life and work of William Stephenson my aim is to provide a general overview of the development of his thinking and, more specifically, to highlight the importance he attached to the study of single cases. I also attempt to provide a context for an understanding of the significance of his "Tribute to Melanie Klein." Some of the principal reasons for Stephenson's marginal status in the discipline of psychology will also emerge in the course of the article. I begin by outlining some of the central notions in Q-methodology. The early sections of the article trace his roots in the north of England - the setting for his schooling and university training in physics - and then outline his encounters with Charles Spearman and Cyril Burt at University College London. The subsequent section deals with his time at the University of Oxford Institute of Experimental Psychology and the wartime interruption to his career. The next few sections take us across the Atlantic and describe some of the most significant features of his work on Q-methodology. these sections also record the difficulties Stephenson experienced before he eventually secured a tenured position at the University of Missouri School of Journalism in Columbia. In the final section I attempt to situate Q-methodology in relation to some of the principal theoretical orientations in the human sciences.

  7. Adverse cardiac events in children with Williams syndrome undergoing cardiovascular surgery: An analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

    Science.gov (United States)

    Hornik, Christoph P; Collins, Ronnie Thomas; Jaquiss, Robert D B; Jacobs, Jeffrey P; Jacobs, Marshall L; Pasquali, Sara K; Wallace, Amelia S; Hill, Kevin D

    2015-06-01

    Patients with Williams syndrome (WS) undergoing cardiac surgery are at risk for major adverse cardiac events (MACE). Prevalence and risk factors for such events have not been well described. We sought to define frequency and risk of MACE in patients with WS using a multicenter clinical registry. We identified cardiac operations performed in patients with WS using the Society of Thoracic Surgeons Congenital Heart Surgery Database (2000-2012). Operations were divided into 4 groups: isolated supravalvular aortic stenosis, complex left ventricular outflow tract (LVOT), isolated right ventricular outflow tract (RVOT), and combined LVOT/RVOT procedures. The proportion of patients with MACE (in-hospital mortality, cardiac arrest, or postoperative mechanical circulatory support) was described and the association with preoperative factors was examined. Of 447 index operations (87 centers), median (interquartile range) age and weight at surgery were 2.4 years (0.6-7.4 years) and 10.6 kg (6.5-21.5 kg), respectively. Mortality occurred in 20 patients (5%). MACE occurred in 41 patients (9%), most commonly after combined LVOT/RVOT (18 out of 87; 21%) and complex LVOT (12 out of 131; 9%) procedures, but not after isolated RVOT procedures. Odds of MACE decreased with age (odds ratio [OR], 0.99; 95% confidence interval [CI], 0.98-0.99), weight (OR, 0.97; 95% CI, 0.93-0.99), but increased in the presence of any preoperative risk factor (OR, 2.08; 95% CI, 1.06-4.00), and in procedures involving coronary artery repair (OR, 5.37; 95% CI, 2.05-14.06). In this multicenter analysis, MACE occurred in 9% of patients with WS undergoing cardiac surgery. Demographic and operative characteristics were associated with risk. Further study is needed to elucidate mechanisms of MACE in this high-risk population. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  8. Ut Pictura Poesis : dialéctica entre palabras e imagen en Sir William Sterling Maxwell

    Directory of Open Access Journals (Sweden)

    Hilary Macartney

    2002-01-01

    Full Text Available En el presente artículo se analiza la estrecha relación entre la historia del arte de Sir William Stirling Maxwell, su biblioteca y su colección artística. Este vínculo encierra la clave para la comprensión de su excepcional aportación a la historiografía del arte español. Sus diversas actividades, como historiador del arte, coleccionista de libros y cuadros, y director de ediciones privadas de libros raros, fueron todas manifestaciones de su gran fascinación por el paralelo entre la literatura y el arte, la palabra y la imagen. Tal relación se encuentra incluso en el esquema decorativo de su biblioteca.This article examines the remarkable unity between Sir William Stirling Maxwell's art history, his library and his art collection and argües that this relationship is the key to understanding his unique contribution to scholarship of Spanish art. In particular, it will be shown that his actlvities as an art historian, bibliophile, art collector and editor of prívate editions of rare books were all expressions of his fascination with the relationship between literature and art in general, and more specifically between word and image. Even the decorative scheme of his library emphasised this relationship.

  9. Spazio psichico e organizzazione sociale in Neuromancer (1984 di William Gibson

    Directory of Open Access Journals (Sweden)

    Tommaso Meozzi

    2013-12-01

    Full Text Available Neuromancer (1984 by William Gibson is a central text in the cyberpunk genre. This article analyzes how, in this book, computing is a metaphor used to represent some characteristics of the psyche and also a social organization not subject to review by a single person. Memory is individual, embodied, and changes continuously. Its transposition in external media has the price of a symbolic death for the subject. At the same time the impersonality of the social machines becomes the object of a psychological projection by the individual, and takes on anthropomorphic forms. The “Matrix” is the space of “virtual” relationships (in the sense of computing. Through simulative processes that take place in real time, it’s possible to make an illusory fusion of the subject with the social body which I, however, linked to a repression of the deeper drives, affective and individual experience. The story ends when the protagonist becomes able to distinguish between external reality and psychic life.

  10. Potential Beneficial Effects of Tulbaghia violacea William Henry ...

    African Journals Online (AJOL)

    Tulbaghia violacea William Henry Harvey (Harv. Alliaceae) is a small bulbous herb belonging to the family Alliaceae. It is used in South Africa to treat fever, colds, asthma, paralysis, and hypertension. Meanwhile, cardiovascular disease accounts for about 30 % of total global death, with most of these deaths occurring in low ...

  11. 77 FR 58818 - Notice of Proposed Information Collection Requests; Federal Student Aid; William D. Ford Federal...

    Science.gov (United States)

    2012-09-24

    ... DEPARTMENT OF EDUCATION Notice of Proposed Information Collection Requests; Federal Student Aid; William D. Ford Federal Direct Loan Program Regulations-- Servicemembers Civil Relief Act SUMMARY: Upon a... in response to this notice will be considered public records. Title of Collection: William D. Ford...

  12. Estrutura e significado em "Uma rosa para Emily", de William Faulkner

    Directory of Open Access Journals (Sweden)

    Carlos Daghlian

    2004-01-01

    Full Text Available Trata-se de uma análise do consagrado conto "Uma Rosa para Emily", de William Faulkner, voltada para alguns dos principais aspectos de sua estrutura. Após considerarmos o enredo, discutimos a construção das personagens, com destaque para a protagonista, fazendo um levantamento e comentários sobre possíveis fontes de inspiração, destacando, entre outras, aspectos da biografia da poeta Emily Dickinson, a ficção e a poesia de E. A. Poe, romances de Charles Dickens e Henry James, o conto de Sherwood Anderson e a poesia de William Blake, Emily Dickinson, Robert Browning e John Crowe Ransom, acrescentando paralelos com o conto "Bartleby, o escrivão", de Herman Melville. Analisamos, então, o foco narrativo, os símbolos e o significado, ressaltando aqui o desenvolvimento temático da narrativa.This is an analysis of the well-known short story "A Rose for Emily," by William Faulkner, concentrating on some of the main aspects of its structure. A consideration of the plot is followed by a discussion of characterization, with emphasis on the protagonist, by means of a survey and comments on possible sources of inspiration including, among others, aspects of Emily Dickinson's biography, E. A. Poe's fiction and poetry, novels by Charles Dickens and Henry James, Sherwood Anderson's short stories, and the poetry of William Blake, Emily Dickinson, Robert Browning, and John Crowe Ransom, in addition to Herman Melville's short story "Bartleby, the Scrivener." The narrative focus, symbolism and meaning, stressing the thematic development of the narrative, are then analyzed.

  13. Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

    Directory of Open Access Journals (Sweden)

    Ariel M Pani

    2010-08-01

    Full Text Available Intellectual disability (ID affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial percentage of ID diagnoses, although for approximately 50% the molecular etiology is unknown. Individuals with features suggestive of various syndromes but lacking their associated genetic anomalies pose a formidable clinical challenge. With the advent of microarray techniques, submicroscopic genome alterations not associated with known syndromes are emerging as a significant cause of ID and MCA.High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. One individual from the first group had the most telomeric gene in the WS critical region deleted along with 2 Mb of flanking sequence. A second person had the classic WS deletion and a rearrangement on chromosome 5p within the Cri du Chat syndrome (OMIM:123450 region. Six individuals from the ID/MCA group had large rearrangements (3 deletions, 3 duplications, one of whom had a large inversion associated with a deletion that was not detected by the SNP arrays.Combining SNP microarray analyses and qPCR allowed us to clone and sequence 21 deletion breakpoints in individuals with atypical deletions in the WS region and/or ID or MCA. Comparison of these breakpoints to databases of genomic variation revealed that 52% occurred in regions harboring structural variants in the general population. For two probands the genomic alterations were flanked by segmental duplications, which frequently mediate recurrent genome rearrangements; these may represent new genomic disorders. While SNP arrays and related technologies can identify potentially pathogenic deletions and duplications, obtaining sequence information

  14. Bayesian stock assessment of Pacific herring in Prince William Sound, Alaska.

    Science.gov (United States)

    Muradian, Melissa L; Branch, Trevor A; Moffitt, Steven D; Hulson, Peter-John F

    2017-01-01

    The Pacific herring (Clupea pallasii) population in Prince William Sound, Alaska crashed in 1993 and has yet to recover, affecting food web dynamics in the Sound and impacting Alaskan communities. To help researchers design and implement the most effective monitoring, management, and recovery programs, a Bayesian assessment of Prince William Sound herring was developed by reformulating the current model used by the Alaska Department of Fish and Game. The Bayesian model estimated pre-fishery spawning biomass of herring age-3 and older in 2013 to be a median of 19,410 mt (95% credibility interval 12,150-31,740 mt), with a 54% probability that biomass in 2013 was below the management limit used to regulate fisheries in Prince William Sound. The main advantages of the Bayesian model are that it can more objectively weight different datasets and provide estimates of uncertainty for model parameters and outputs, unlike the weighted sum-of-squares used in the original model. In addition, the revised model could be used to manage herring stocks with a decision rule that considers both stock status and the uncertainty in stock status.

  15. Bayesian stock assessment of Pacific herring in Prince William Sound, Alaska.

    Directory of Open Access Journals (Sweden)

    Melissa L Muradian

    Full Text Available The Pacific herring (Clupea pallasii population in Prince William Sound, Alaska crashed in 1993 and has yet to recover, affecting food web dynamics in the Sound and impacting Alaskan communities. To help researchers design and implement the most effective monitoring, management, and recovery programs, a Bayesian assessment of Prince William Sound herring was developed by reformulating the current model used by the Alaska Department of Fish and Game. The Bayesian model estimated pre-fishery spawning biomass of herring age-3 and older in 2013 to be a median of 19,410 mt (95% credibility interval 12,150-31,740 mt, with a 54% probability that biomass in 2013 was below the management limit used to regulate fisheries in Prince William Sound. The main advantages of the Bayesian model are that it can more objectively weight different datasets and provide estimates of uncertainty for model parameters and outputs, unlike the weighted sum-of-squares used in the original model. In addition, the revised model could be used to manage herring stocks with a decision rule that considers both stock status and the uncertainty in stock status.

  16. Cardiovascular events in acute coronary syndrome patients with peripheral arterial disease treated with ticagrelor compared to clopidogrel: Data from the PLATO trials

    DEFF Research Database (Denmark)

    Patel, Manesh R.; Becker, Richard C.; Wojdyla, Daniel M.

    Abstract 14299: Cardiovascular Events in Acute Coronary Syndrome Patients With Peripheral Arterial Disease Treated With Ticagrelor Compared to Clopidogrel: Data From the PLATO Trial Manesh R Patel1; Richard C Becker1; Daniel M Wojdyla2; Håkan Emanuelsson3; William Hiatt4; Jay Horrow5; Steen Husted6...... Uppsala, Sweden 10 Cardiology, Uppsala Clinical Rsch center, 75185 Uppsala, Sweden Background: Patients with peripheral artery disease (PAD) and acute coronary syndrome (ACS) are at high risk for clinical events and are often difficult to manage. We evaluated cardiovascular outcomes of ACS patients...

  17. 76 FR 13667 - Commercial Furniture Group, Inc., Formerly Known as Falcon Products, Inc., Shelby Williams, Howe...

    Science.gov (United States)

    2011-03-14

    ... Furniture Group, Inc., Formerly Known as Falcon Products, Inc., Shelby Williams, Howe and Thonet, Including...., Formerly Known as Falcon Products, Inc., Shelby Williams, Howe and Thonet, Chicago, IL; Amended Certification Regarding Eligibility To Apply for Worker Adjustment Assistance In accordance with Section 223 of...

  18. Report of Some Comets: The Discovery of Uranus and Comets by William, Caroline, and John Herschel

    Science.gov (United States)

    Pasachoff, Jay M.; Olson, R. J. M.

    2011-01-01

    We report on the discovery and drawings of comets by William, Caroline, and John Herschel. The first discovery, by William Herschel, in 1781 from Bath, published in the Philosophical Transactions of the Royal Society with the title "Report of a Comet," turned out to be Uranus, the first planet ever discovered, Mercury through Saturn having been known since antiquity. William's sister Caroline was given duties of sweeping the skies and turned out to be a discoverer of 8 comets in her own right, in addition to keeping William's notes. Caroline's comets were discovered from Slough between 1786 and 1797. In the process, we also discuss original documents from the archives of the Royal Society and of the Royal Astronomical Society. We conclude by showing comet drawings that we have recently attributed to John Herschel, including Halley's Comet from 1836, recently located in the Ransom Center of the University of Texas at Austin. Acknowledgments: Planetary astronomy at Williams College is supported in part by grant NNX08AO50G from NASA Planetary Astronomy. We thank Peter Hingley of the Royal Astronomical Society and Richard Oram of the Harry Ransom Center of The University of Texas at Austin for their assistance.

  19. Ethical Life in Kierkegaard and Williams

    OpenAIRE

    Stocker, Barry

    2018-01-01

    A discussion of how the criticisms of ethical theory in Søren Kierkegaard and Bernard Williams both reinforce each other and also provide some challenges to each other. Despite Williams’ brief and dismissive encounter with Kierkegaard around the reading of a ancient tragedy, both oppose any tendency to see the characters in those tragedies as lacking in agency. Both are consistently concerned with how the individual struggles for some ethical agency and how no individual can be free of the in...

  20. Prince William Sound, Alaska ESI: M_MAMMAL (Marine Mammal Polygons)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set comprises the Environmental Sensitivity Index (ESI) data for Prince William Sound, Alaska. ESI data characterize estuarine environments and wildlife by...