Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment

Falcaro, M. and Pickles, A and Newbury, DF and Addis, L and Banfield, E and Fisher, SE and Monaco, AP and Simkin, Z and Conti-Ramsden, G and Newbury, DF and Banfield, E and Addis, L and Cleak, JD and Cardon, LR and Merriden, MJ and Goodyer, IM and Simonoff, E and Bolton, PF and Slonims, V and Baird, G and Everitt, Andrea and Hennessy, E and Shaw, D and Helms, PJ and Kindley, AD and Clark, Ann and Watson, Jocelynne and O'Hare, Anne and Seckl, J and Cowie, H and Cohen, W and Nasir, J and Bishop, DVM (2008) Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Genes Brain and Behavior, 7 (4). pp. 393-402. ISSN 16011848

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Deficits in phonological short-term memory and aspects of verb grammar morphology have been proposed as phenotypic markers of specific language impairment (SLI) with the suggestion that these traits are likely to be under different genetic influences. This investigation in 300 first-degree relatives of 93 probands with SLI examined familial aggregation and genetic linkage of two measures thought to index these two traits, non-word repetition and tense marking. In particular, the involvement of chromosomes 16q and 19q was examined as previous studies found these two regions to be related to SLI. Results showed a strong association between relatives' and probands' scores on non-word repetition. In contrast, no association was found for tense marking when examined as a continuous measure. However, significant familial aggregation was found when tense marking was treated as a binary measure with a cut-off point of -1.5 SD, suggestive of the possibility that qualitative distinctions in the trait may be familial while quantitative variability may be more a consequence of non-familial factors. Linkage analyses supported previous findings of the SLI Consortium of linkage to chromosome 16q for phonological short-term memory and to chromosome 19q for expressive language. In addition, we report new findings that relate to the past tense phenotype. For the continuous measure, linkage was found on both chromosomes, but evidence was stronger on chromosome 19. For the binary measure, linkage was observed on chromosome 19 but not on chromosome 16. © 2007 The Authors.

Item Type: Article
Uncontrolled Keywords: Familial aggregation; Grammatical morphology; Linkage analysis; Phonological short-term memory; Selected sample; Specific language impairment
Divisions: School of Health Sciences > Clinical Audiology, Speech and Language Research Centre
Date Deposited: 16 May 2009 12:22
Last Modified: 02 Feb 2017 15:38


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