Do children with Williams syndrome have unusual vocabularies?

Aims: The present study investigated whether children with Williams syndrome (WS) produced a higher number of different word roots and low-frequency words in spontaneous speech in a topic controlled setting. Method: A group of children with WS was compared to a group of typically developing children matched for chronological age (CA), and a group of typically developing children matched for receptive language abilities (LA). A further comparison was made between the WS group and a group of children matched for non-verbal abilities (NA). Spontaneous speech was elicited using a narrative task. The data were analysed using three different measures of lexical diversity. The results revealed that the children with WS neither produce a higher number of different word roots nor significantly more low-frequency items in comparison to the CA, LA and NA matched participants. Furthermore, language and non-verbal abilities did not predict the number of different and low frequency words used by the typically developing children, however in the WS group non-verbal abilities predicted the number of low-frequency words and receptive language skills predicted the number of different words produced. It is concluded that individuals with WS do not have unusual vocabularies and that the subdomain of language, lexical semantics, does not seem to be an independent cognitive skill. (c) 2007 Elsevier Ltd. All rights reserved.

Intonation abilities of children with Williams syndrome: a preliminary investigation

Purpose: The authors investigated expressive and receptive intonation abilities in children with Williams syndrome (WS) and the relation of these abilities to other linguistic abilities. Method: Fourteen children with WS, 14 typically developing children matched to the WS group for receptive language (LA), and 15 typically developing children matched to the WS group for chronological age (CA) were compared on a range of receptive and expressive intonation tasks from the Profiling Elements of Prosodic Systems-Child version (PEPS-C) battery. Results: The WS group performed similarly to the LA group on all intonation tasks apart from the long-item imitation task, on which the WS group scored significantly lower than the LA group. When compared with the CA group, the WS group was significantly poorer on all aspects of intonation. Whereas there were a number of significant correlations between the intonation and language measures in the control groups, in the WS group, there was only 1 significant correlation between a PEPS-C task and one of the language measures. Conclusion: As a result of this study, the authors concluded that children with WS have expressive and receptive intonation abilities as expected for their level of language comprehension and that intonation and other linguistic abilities in WS are not strongly related.

Affective prosody in children with Williams syndrome

The aim of the current study was to investigate expressive affect in children with Williams syndrome ( WS) in comparison to typically developing children in an experimental task and in spontaneous speech. Fourteen children with WS, 14 typically developing children matched to the WS group for receptive language ( LA) and 15 typically developing children matched to the WS groups for chronological age ( CA) were recruited. Affect was investigated using an experimental Output Affect task from the Profiling Elements of Prosodic Systems-Child version ( PEPS-C) battery, and by measuring pitch range and vowel durations from a spontaneous speech task. The children were also rated for level of emotional involvement by phonetically naive listeners. The WS group performed similarly to the LA and CA groups on the Output Affect task. With regard to vowel durations, the WS group was no different from the LA group; however both the WS and the LA groups were found to use significantly longer vowels than the CA group. The WS group differed significantly from both control groups on their range of pitch range and was perceived as being significantly more emotionally involved than the two control groups.

Prosodie et Syndrome de Williams : une étude inter-langue

L’objectif de l’étude est de mieux cerner les particularités acoustiques de la prosodie d’enfants porteurs du SW de langue maternelle anglaise et de langue maternelle française. Des productions spontanées ont été recueillies à l’aide de la tâche de narration « Grenouille, où es-tu ? » (Mayer, 1969). La prosodie des enfants SW est comparée à celle de deux groupes typiques, un de même âge chronologique et un de même âge développemental que le groupe avec SW La population se compose de 1. 7 enfants SW de langue française âgés entre 6 ans et 13 ans 7 mois, appariés à deux groupes typiques et 2. 13 enfants SW de langue anglaise âgés entre 6 ans et 13 ans 11 mois, appariés à deux groupes typiques. Notre analyse porte sur un paramètre acoustique de la prosodie des enfants avec SW : la Variation de la Fréquence Fondamentale. Les résultats sont discutés sur les points suivants : 1. les différences et similitudes entre les profils prosodiques des enfants avec SW et des enfants typiques de même âge chronologique ou développemental, en langue anglaise et en langue française, 2. les différences entre les enfants avec SWde langue maternelle anglaise et les enfants avec SWde langue maternelle française et 3. le développement prosodique observé chez les enfants avec SW. (For English abstract see "Additional Information")

Pitch range and vowel duration in the speech of children with Williams syndrome

This paper reports the pitch range and vowel duration data from a group of children with Williams syndrome (WS) in comparison with a group of typically developing children matched for chronological age (CA) and a group matched for receptive language abilities (LA). It is found that the speech of the WS group has a greater pitch range and that vowels tend to be longer in duration than in the speech of the typically developing children. These findings are in line with the impressionistic results reported by Reilly, Klima and Bellugi [17].

Williams Syndrome: the extent of agreement between parent and self report of psychological difficulties

Background and Objectives: People with Williams syndrome (WS) have been reported by their carers to have problems with attention, anxiety and social relationships. People with WS have been shown to report their anxieties. This study extends our knowledge of how people with WS see themselves in terms of behaviour and social relationships. Methods: A survey using self and parent report forms of the Strengths and Difficulties Questionnaire. Results: Both parents and individuals with WS (N = 31) reported difficulties in emotional disorder and hyperactivity symptoms and strengths in prosocial behaviours such as altruism and empathy. They disagreed about peer problems. Conclusions: People with WS understand some but not all of their difficulties. In particular they fail to recognize their social difficulties which may lead them to be vulnerable to exploitation.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

O Barroco Hispano-americano: primero sueño ou Sor Juana Inés de La Cuz

The current dissertation is linked to the research line Poéticas da modernidade e da pós-modernidade (modern and post modern poetics), which is being developed for the Programa de Pós-graduação em Estudos da Linguagem (Program of post graduation in language studies), in the area of Literatura Comparada (comparative literature) CCHLA/UFRN. The main aim of the research is to show the reading of Primero sueño by sor Juana Inés de la Cruz, in the middle of the contemporary age, through an eclectic analysis which elucidates the baroque in its most recent concept; the social context and the life as a nun of sor Juana and the analysis of the poetry starting from the glance to the literary text. The perception of the baroque eon universal as a constant artistic movement from its appearance to the present time thus highlighted based on the most modern studies by the baroque specialists: Eugênio d Ors, O barroco (s/d), Severo Sarduy, Barroco (s/d) and Gilles Deleuze, A dobra: Leibniz e o barroco (1991). In that research, it will be presented the translation/transcreation of the study object corpus still guided by the translatological theories of Haroldo de Campos (2004), Da tradução como criação e como crítica, Walter Benjamin (1971), A tarefa do tradutor and Jacques Derrida (2006), Torres de Babel

Hallazgos clínico-radiológicos de la articulación temporomandibular en pacientes con artritis reumatoide

Aim of present paper is to describe and to assess the Clinicoradiological findings of the temporomandibular joint (TMJ) in a group of patients diagnosed with rheumatoid arthritis (RA). Sample included 61 patients with a mean age of 54 years and 5 months. All of them were interrogated and clinically examined and then underwent to a radiographic examination of both TMJs, using the transcranial projection technique, with the closed mouth and in maximal opening. Study includes the TMJ syndrome founded such as pain, tumefaction, luxation, clicking, and a limited oral opening. The study of radiographic features showed the presence of changes in condyle surface and temporal fossa, in condylar motility, and articulation space. We conclude that in patients presenting with rheumatoid arthritis is frequent the presence of clinicoradiological findings in the TMJ, and that patient's age and gender and the activity level and the RA course time, are factors influencing in TMJs general status.

Evaluación preliminar del impacto en México de la influenza AH1N1: documento elaborado por el equipo conjunto CEPAL

Incluye Bibliografía

A importância da contraimunoeletroforese na detecção de antígenos nucleares extraíveis SS-A/Ro e SS-B/La para diagnóstico de doença reumática sistêmica

Pós-graduação em Patologia - FMB

Displasia ectodérmica hipohidrótica: un síndrome de interés para la odontología

Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.

Odontological assistance to Down Syndrome patients having congenital heart malformations

In this study the authors present the frequency and types of congenital heart malformations (CHM) among Down Syndrome (DS) patients emphasizing the prevention of infectious endocarditis (IE) with appropriate antibiotic prophylaxis (ABP). Out of 390 DS patients, 312 (80%) were considered free from any CHM. 78 (20%) presented some CHM; from these 11,54% (n=9) have more than one CHM; ABP to prevent IE was recommended for 41,03% (n=32). Ventricular septal defect was the most frequent CHM (20,51%, n=16). Dentists must know about the patients’ cardiologic diagnosis before a treatment that could cause bleeding, because they have to administer antibiotics to prevent IE. Although some CHM doesn’t need ABP, according to the protocol of the American Heart Association, there are systemic conditions in DS that are relevant to the prescription of antibiotics.

Case report: Cornelia de Lange Syndrome (CDLS)

The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.

Distribution of serotype-specific genotypes of Aggregatibacter actinomycetemcomitns in Brazilian patients with Down syndrome with different periodontal conditions

Fundação do Amparo à Pesquisa do Estado de São Paulo (FAPESP)