15th International Congress of Phonetic Sciences (ICPhS-15) Barcelona, Spain August 3-9, 2003

Toward a Phenotype Marker for Genetically Transmitted Speech Delay

Lawrence D. Shriberg

University of Wisconsin-Madison, USA

Converging evidence supports the likelihood that some speech-language disorders of currently unknown origin, including a subtype of child speech-sound disorders termed Speech Delay (SD), are genetically transmitted.
   Molecular genetics research has not, to date, identified a susceptibility gene for SD, but a susceptibility locus on chromosome 7q31 has recently been reported. As with other complex behavioral traits, methodological challenges in speech-genetics research include heterogeneities in etiologies, genotypes, endophenotypes, and phenotypes. The method and findings summarized in this report address etiological heterogeneity - specifically, the development of methods to differentiate children and family members with genetically based SD from speakers with other possible subtypes of SD (i.e., phenocopies). We report the first data supporting the possibility of an acoustic marker for genetically transmitted SD. The phenotype marker is based on a speaker's production errors on the alveolar sibilants /s/ and /z/.

Full Paper

Bibliographic reference.  Shriberg, Lawrence D. (2003): "Toward a phenotype marker for genetically transmitted speech delay", In ICPhS-15, 1667-1670.