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

M Falcaro, A. Pickles, Dianne F. Newbury, L Addis, E Banfield, Simon E. Fisher, A P Monaco, Z. Simkin, G. Conti-Ramsden, Wendy Cohen, The SLI Consortium

Research output: Contribution to journalArticle

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Abstract

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.
LanguageEnglish
Pages393-402
Number of pages10
JournalGenes, Brain and Behavior
Volume7
Issue number4
Early online date17 Oct 2007
DOIs
Publication statusPublished - Jun 2008

Fingerprint

Short-Term Memory
Language
Chromosomes
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 16
Genetic Linkage
Phenotype

Keywords

  • familial aggregation
  • grammatical morphology
  • linkage analysis
  • phonological short-term memory
  • specific language impairment

Cite this

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title = "Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment",
abstract = "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.",
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Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. / The SLI Consortium.

In: Genes, Brain and Behavior , Vol. 7, No. 4, 06.2008, p. 393-402.

Research output: Contribution to journalArticle

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AU - Falcaro, M

AU - Pickles, A.

AU - Newbury, Dianne F.

AU - Addis, L

AU - Banfield, E

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AU - Monaco, A P

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AU - Conti-Ramsden, G.

AU - Cohen, Wendy

AU - The SLI Consortium

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N2 - 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.

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KW - grammatical morphology

KW - linkage analysis

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KW - specific language impairment

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T2 - Genes, Brain and Behavior

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