ABSTRACT
Dyslexia has been linked to a number of chromosomal regions including 15q. Recently a gene, EKN1, with unknown function in the linked region, was identified via a translocation breakpoint. This gene was further supported as a susceptibility locus by association studies in a Finnish sample. We investigated the possibility of this locus as a susceptibility gene contributing to dyslexia, analyzed as a categorical trait, and analyzed key reading phenotypes as quantitative traits using six polymorphisms including the two previously reported to be associated with dyslexia. In our sample of 148 families identified through a proband with reading difficulties, we found significant evidence for an association to dyslexia analyzed as a categorical trait and found evidence of association to the reading and related processes of phonological awareness, word identification, decoding, rapid automatized naming, language ability, and verbal short-term memory. However, association was observed with different alleles and haplotypes than those reported to be associated in a Finnish sample. These findings provide support for EKN1 as a risk locus for dyslexia and as contributing to reading component processes and reading-related abilities. Based on these findings, further studies of this gene in independent samples are now required to determine the relationship of this gene to dyslexia.
Subject(s)
Chromosomes, Human, Pair 15/genetics , Dyslexia/genetics , Genetic Predisposition to Disease/genetics , Nerve Tissue Proteins/genetics , Nuclear Proteins/genetics , Child , Chromosome Mapping , Cytoskeletal Proteins , Genetic Linkage , Genetic Markers , Genotype , Humans , Phenotype , Reading , Siblings , Verbal Behavior/physiologyABSTRACT
OBJECTIVES: Treatment integrity is concerned with whether treatment conditions as provided are consistent with specifications for the treatment. Therapists' consistency in following their treatment plans that called for the use of sensory integrative and perceptual-motor techniques was evaluated. METHOD: Three occupational therapists were rated on their consistency in 46 sessions each of sensory integrative and perceptual-motor therapy. Ratings were made both earlier (1 month) and later (4 months) in treatment. Consistency was rated with a five-point scale for 10 categories of the treatment plans. RESULTS: Overall consistency did not differ significantly (86% for sensory integrative techniques and 79% for perceptual-motor techniques). Perceptual-motor activities showed less consistency early in treatment but approached the level for sensory integrative techniques by later treatment sessions. Consistency differed significantly among therapists for sensory integrative activities that addressed tactile defensiveness and perceptual-motor activities associated with fine coordination and dexterity. CONCLUSION: Despite the less structured, more child-centered nature of sensory integrative techniques, consistency in using these techniques was as high as that found for more scripted, program-centered, perceptual-motor techniques. Therapists reported that gaining the interest and attention of some children with the more structured perceptual-motor activities was more difficult early in treatment but could be achieved with time. Differences in consistency among therapists require verification with a larger sample.