[Williams-Beuren syndrome: a multidisciplinary approach]. / Le syndrome de Williams-Beuren: une approche pluridisciplinaire.

Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

Communication deficits: assessment of subjects with frontal lobe damage in an interview setting.

This paper is about communication deficits in an interview setting among adolescents with frontal lobe damage. One of the predominant characteristics of these patients is difficulty taking the context into account. Pragmatic theories, which attempt to clarify the link between the formal structure of language and the extra-linguistic context (such as the interlocutor's characteristics or strategies), may help provide insight into the difficulties of these patients. An interview setting, viewed here as a communication situation, is governed by an interaction format based on specific cooperative principles. In this study, the results of subjects with frontal lobe damage (in the role of interviewee) were first compared with those of normal subjects in an interview situation. Three pragmatic indexes were considered: the number of utterances per speaking turn (speech quantity), amount of digression (keeping to the topic or predefined subject of conversation shared by the interlocutors) and prevalence of within-subject contingency speaking turns without an intervening remark by the interviewer (topic development). Secondly, we attempted to determine whether the patients' discourse was dependent upon the interviewer's conversational strategy (structured, non-structured, or alternating). The results clearly point out the extent of the difficulty frontal lobe patients have conforming to the rules of the interview situation, whether regarding the amount of speech they produce or their ability to keep within and/or development of the topic of conversation. The data also indicated that the patients' linguistic productions varied with the interviewer's strategy. The structured strategy did not always give rise to the best performance: while the unstructured and alternating strategies allowed patients to produce more utterances per speaking turn, the alternating strategy enabled better development of the interview topic. These results suggest that such variations could be put to fruitful use in remedial techniques.

Addressee co-operation and request reformulation in young children.

The purpose of the present study was to show that children under age 3;0 are capable of reformulating requests in different ways depending on how their addressee responds to the request. This adaptive ability is considered to be an indication of the use of both communicative and conversational skills. Children from French-speaking families were observed at two developmental thresholds: the end of the prelinguistic period (1;6) and the start of the linguistic period (2;6). The verbal and nonverbal outputs of the two groups of 12 children (1;6 and 2;6) were compared in three object request situations: the adult immediately complies with the request (satisfaction), the adult asks a clarification question (clarification), and the adult refuses to comply with the request (refusal). The ways in which the children adapted to each situation were found to be similar at the two ages considered. In the clarification situation, vocal productions and their repairs were more numerous, whereas in the refusal situation, non-reformulations and gazes to and from the requested object and addressee predominated. The discussion deals with the significance of these results in the development of communicative and conversational skills in children.

Asking and Insisting after a Refusal: How do 6- to 7-year-olds Proceed?

What changes take place in request production between the ages of 6 and 7? In other words, what do children ask for, whom do they ask, and how do they formulate their requests? Twenty children, native French-speaking children divided into 2 age groups (6 and 7 year old) were asked to complete 2-character comic-strip stories where the hero either made a request to a friend or an enemy. Requests were for action or for information. In both age groups, children tend to use the direct form and embedded imperatives more often when the hero addressed a friend. Hints were employed more frequently when addressing an enemy. Requests for action were expressed primarily in both groups through direct requests, embedded imperatives and hints, whereas requests for information tended to take form of question directives. Surprisingly, 6-year-olds produced more indirect requests than the 7-year-olds, and particularly produced more question directives and hints. Reformulations in the 6-year-old group consisted of repeating the first request, whereas the 7-year-old group evidenced clear ability to produce a variety of reformulations. These results form the basis for a psychological interpretation of earlier findings. Discussion enters on children's ability to link linguistic form of request to the social features of production situation.