2 resultados para sensory impairment

em WestminsterResearch - UK


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Introduction: Previous research has suggested that visual images are more easily generated, more vivid and more memorable than other sensory modalities. This research examined whether or not imagery is experienced in similar ways by people with and without sight. Specifically, the imabeability of visual, auditory and tactile cue words was compared. The degree to which images were multimodal or unimodal was also examined. Method: Twelve participants totally blind from early infancy and 12 sighted participants generated images in response to 53 sensory and non sensory words, rating imageability and the sensory modality, and describing images. From these 53 items, 4 subgroups of words, which stimulated images that were predominantly visual, tactile, auditory and low-imagery, respectively, were created. Results: T-tests comparing imageability ratings from blind and sighted participants found no differences for auditory and tactile words (both p>.1). Nevertheless, whilst participants without sight found auditory and tactile images equally imageable, sighted participants found images in response to tactile cue words harder to generate than visual cue words (mean difference: -0.51, p=.025). Participants with sight were also more likely to develop multisensory images than were participants without sight (both U≥15.0, N1=12, N2=12, p≤.008). Discussion: For both the blind and sighted, auditory and tactile images were rich and varied and similar language was used. Sighted participants were more likely to generate multimodal images. This was particularly the case for tactile words. Nevertheless, cue words that resulted in multisensory images were not necessarily rated as more imageable. The discussion considers whether or not multimodal imagery represent a method of compensating for impoverished unimodal imagery. Implications for Practitioners: Imagery is important not only as a mnemonic in memory rehabilitation, but also everyday uses for things such as autobiographical memory. This research emphasises both the importance of not only auditory and tactile sensory imagery, but also spatial imagery for people without sight.

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BACKGROUND: We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation. RESULTS: Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position: 93,884,065-93,933,453, hg19) and 11p12 (chromosome position: 38,601,145-38,621,572, hg19). These regions contain only non-coding transcripts (ENSG00000232790 on 7p21.1 and TCONS_00013886, TCONS_00013887, TCONS_00014353, TCONS_00013888 on 7q21) indicating that no coding sequences are directly disrupted. The breakpoint on 7q31 mapped 200 kb downstream of FOXP2, a well-known language gene. No splice site or non-synonymous coding variants were found in the FOXP2 coding sequence. We were unable to detect any changes in the expression level of FOXP2 in fibroblast cells derived from the proband, although this may be the result of the low expression level of FOXP2 in these cells. CONCLUSIONS: We conclude that the phenotype observed in this patient either arises from a subtle change in FOXP2 regulation due to the disruption of a downstream element controlling its expression, or from the direct disruption of non-coding RNAs.