Perfil da fluência da fala na síndrome de Williams-Beuren: estudo preliminar / Speech fluency profile in Williams-Beuren syndrome: a preliminary study

BACKGROUND: the speech fluency pattern attributed to individuals with Williams-Beuren syndrome (WBS) is supported by the effectiveness of the phonological loop. Some studies have reported the occurrence of speech disruptions caused by lexical and semantic deficits. However, the type and frequency of such speech disruptions has not been well elucidated. AIM: to determine the speech fluency profile of individuals with WBS and to compare the speech performance of these individuals to a control group matched by gender and mental age. METHOD: Twelve subjects with Williams-Beuren syndrome, chronologically aged between 6.6 and 23.6 years and mental age ranging from 4.8 to 14.3 years, were evaluated. They were compared with another group consisting of 12 subjects with similar mental age and with no speech or learning difficulties. Speech fluency parameters were assessed according to the ABFW Language Test: type and frequency of speech disruptions and speech rate. The obtained results were compared between the groups. RESULTS: In comparison with individuals of similar mental age and typical speech and language development, the group with Williams-Beuren syndrome showed a greater percentage of speech discontinuity, and an increased frequency of common hesitations and word repetition. CONCLUSION: The speech fluency profile presented by individuals with WBS in this study suggests that the presence of disfluencies can be caused by deficits in the lexical, semantic, and syntactic processing of verbal information. The authors stress that further systematic investigations on the subject are warranted.

TEMA: o padrão de fala fluente atribuído aos indivíduos com a síndrome de Williams-Beuren sustenta-se pela efetividade da alça fonológica. Alguns estudos citaram a ocorrência de disfluências decorrentes de prejuízos léxico-semânticos, entretanto, a quebra de fluência não foi bem especificada quanto ao tipo e freqüência de ocorrência. OBJETIVO: obter o perfil da fluência da fala de indivíduos com a SWB e comparar com um grupo controle pareado por gênero e idade mental semelhante. MÉTODO: foram avaliados 12 sujeitos com síndrome de Williams-Beuren a com idade cronológica entre 6,6 a 23,6 e idade mental de 4,8 a 14,3 anos que foram comparados a outros 12 sujeitos de idade mental semelhante com ausência de dificuldades de linguagem/aprendizagem. Para avaliação da fluência foi utilizado o Teste de Linguagem Infantil - ABFW, na área de fluência, que possibilitou classificar, quantificar e comparar os dois grupos quanto às tipologias e freqüência de rupturas e velocidade de fala. RESULTADOS: o grupo com a síndrome de Williams-Beuren (SWB) apresentou maior porcentagem de descontinuidade de fala e freqüência aumentada para disfluências comuns do tipo hesitação e repetição de palavras quando comparados aos indivíduos com idade mental semelhante e com desenvolvimento típico de fala e linguagem. CONCLUSÃO: O perfil da fluência da fala apresentado pelos indivíduos com a SWB neste estudo mostrou a presença de disfluências que podem ser decorrentes de prejuízo no processamento léxico-semântico e sintático da informação verbal; ressaltando-se, pois a necessidade de investigações mais sistemáticas sobre este tema.

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

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 percent). 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.