Familial persistent developmental stuttering: genetic perspectives

Revista da Sociedade Brasileira de Fonoaudiologia

Domingues, Carlos Eduardo Frigério¹  Juste, Fabíola Staróbole¹  Universidade de São Paulo, São Paulo, Brasil¹  Andrade, Claudia Regina Furquim de¹  Moretti-Ferreira, Danilo¹  Oliveira, Breila Vilela de¹  Universidade Estadual Paulista Júlio de Mesquita Filho, Botucatu, Brasil¹ 

关键词: Speech;    language;    and hearing sciences;    Speech;    Stuttering/etiology;    Genetics;    Genes;    Inheritance patterns;   

DOI  :  10.1590/S1516-80342012000400021

来源: Sociedade Brasileira de Fonoaudiologia

【 摘 要 】

Stuttering is a disorder of oral communication that has a multidimensional character. The biological predisposition in the development of stuttering is still not well understood, but genetic contributions to this predisposition are enhanced by both references to the familial aggregation of stuttering and to familial stammering, which have appeared in the literature for over 70 years. Thus, we conducted a review as to the likely genetic factors involved in the manifestation of familial persistent developmental stuttering. The identification of genes related to stuttering, as well as alterations in their structures (e.g., mutations), contribute significantly to its understanding. The exact transmission pattern of genetic inheritance for stuttering is still not clearly defined and might probably be different among different families and populations. Genomic analysis have shown, concomitantly, the relevance of the genetic components involved and their complexity, thus suggesting that this is a polygenic disease in which several genes of different effects may be involved with the increased susceptibility of occurrence of stuttering. The clinician should be alert to the fact that a child with positive familial history for stuttering may have a strong tendency to develop the disorder chronically. It is important that the clinician is aware, in order to provide precise information about the disorder to the families. Objective evaluations and controlled treatments play an important role in the knowledge of the disorder's development.

【 授权许可】

Unknown