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Current Projects

Relation Between Speech Delay and Dyslexia
National Institute of Child Health and Human Development

Principal Investigators:
Bruce F. Pennington, Ph.D. and Richard Boada, Ph.D.


This longitudinal study extends our previous work on the genetics and linguistic phenotype in familial dyslexia (see selected annotated publications) by studying its relation to other speech/language disorders. Specifically, this project focuses on the relation between speech delay (SD) and dyslexia (RD) which manifest at different ages and are typically studied by different disciplines, two factors which may have obscured their relation. If they share etiological and cognitive risk factors, then a shift in their conceptualization, diagnosis, and treatment may be indicated.

The project will answer the following questions:

  1. Do speech delay and dyslexia share genetic risk factors?,
  2. Do they share underlying cognitive risk factors?

To answer these questions, we have identified and tested 112 five-year-old probands with speech delay, 77 of their 5-7 year old siblings, and 41 five-year-old controls. All subjects have been tested with measures of 1) speech and language symptoms, and 2) phonological and auditory processes that might be common to both speech delay and dyslexia. We have now evaluated the literacy outcome of SD probands and controls at age 8.

So far, we have found that 1) the SD group as a whole has a phonological deficit similar to that found in dyslexia, but differ in having worse language impairment but better performance on rapid serial naming tasks and 2) that the entire SD group has a worse literacy outcome at age 8 than controls, but that the subgroup of SD with LI carries most of the risk for a diagnosis of dyslexia. We are now comparing the SD group at age 8 to other dyslexic groups at a similar age to better define which cognitive risk factors are shared and not shared by these two disorders.

The sibling pair sample has been tested by our collaborator Shelley Smith for linkage between speech delay and candidate loci for dyslexia on chromosomes 1p, 6p, and 15q and significant linkage was found to the loci on 6p and 15q. We will conduct a whole genome scan of a larger sib-pair sample to identify other risk loci for SD.

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