Fluency disorders in genetic syndromes

Borsel, John Van; Tetnowski, John A.

doi:10.1016/j.jfludis.2007.07.002

Cited by 88 publications

(48 citation statements)

References 68 publications

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“…Some patients with Tourette syndrome [21] or Parkinson's disease [22] exhibit palilalia, which is the continuous repetition of a phrase or specific syllables. Mechanisms underlying chevron-repeats or short-repeats might be shared by human speech disorders.…”

Section: Discussionmentioning

confidence: 99%

Two genetic loci control syllable sequences of ultrasonic courtship vocalizations in inbred mice

2011

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BackgroundThe ultrasonic vocalizations (USV) of courting male mice are known to possess a phonetic structure with a complex combination of several syllables. The genetic mechanisms underlying the syllable sequence organization were investigated.ResultsThis study compared syllable sequence organization in two inbred strains of mice, 129S4/SvJae (129) and C57BL6J (B6), and demonstrated that they possessed two mutually exclusive phenotypes. The 129S4/SvJae (129) strain frequently exhibited a "chevron-wave" USV pattern, which was characterized by the repetition of chevron-type syllables. The C57BL/6J strain produced a "staccato" USV pattern, which was characterized by the repetition of short-type syllables. An F1 strain obtained by crossing the 129S4/SvJae and C57BL/6J strains produced only the staccato phenotype. The chevron-wave and staccato phenotypes reappeared in the F2 generations, following the Mendelian law of independent assortment.ConclusionsThese results suggest that two genetic loci control the organization of syllable sequences. These loci were occupied by the staccato and chevron-wave alleles in the B6 and 129 mouse strains, respectively. Recombination of these alleles might lead to the diversity of USV patterns produced by mice.

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Section: Discussionmentioning

confidence: 99%

Two genetic loci control syllable sequences of ultrasonic courtship vocalizations in inbred mice

2011

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“…It is learned gradually with practice and necessarily requires the development of linguistic mechanisms that reduce the processing load of information, leading to longer and more complex statements 28 .…”

Section: Fluency In Down Syndromementioning

confidence: 99%

“…statements about its occurrence much research still needs to be conducted 28 . In another study, the realization of which was justified by the wide variety of symptoms that can be found in individuals with speech non-fluency, observe the following data: 76 individuals participated with Down syndrome, aged between 3.8 and 57.3 years, they replied to the inventory "Predictive Cluttering Inventory" for his Speech therapist.…”

Section: Fluency In Down Syndromementioning

confidence: 99%

“…For any genetic condition in which individuals exhibit intellectual disabilities and fluency disorders is necessary to consider that these cases do not correspond to a stuttering itself, but several aspects, including the analysis of language skills should be studied and better designed for this population. Although considered a primary symptom in various genetic syndromes, data on the flow are not yet clear, which prevents the differentiation of stuttering development of this anomaly associated with stuttering 28 .…”

mentioning

confidence: 99%

“…Correlating descriptors Down syndrome with stuttering and / or fluency, were found in the literature, through research on electronic database, only two articles on the subject 28,29 widening the review for the study of narrative.…”

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confidence: 99%

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Linguagem narrativa e fluência na síndrome de down: uma revisão

2014

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A síndrome de Down é uma condição na qual os indivíduos apresentam comprometimento intelectual e alterações de linguagem oral. A disfluência de fala está presente tanto durante a conversa espontânea como em produções orais de narrativas direcionadas. Este estudo teve como principal objetivo revisar a literatura sobre a disfluência e a narrativa em indivíduos com a síndrome de Down, publicada entre 2002 e 2012, em bases de dados eletrônicos. Foram encontrados 17 artigos e selecionados oito, de acordo com os critérios de inclusão e exclusão. Destes, dois discorriam especificamente sobre a disfluência na síndrome de Down, e seis sobre a narrativa nesta população. A deficiência intelectual é parte do fenótipo dos indivíduos com SD e, em decorrência do comprometimento intelectual, prejuízos na aquisição e no desenvolvimento da linguagem. Estudos específicos, principalmente sobre a fluência/disfluência; e, sobre o desempenho na tarefa da narrativa, ainda são escassos e inconclusivos. A disfluência não aparece na maioria das descrições do fenótipo de linguagem dos indivíduos com esta condição, que mereceria, estudos clínicos adicionais.

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