Search PubMed⌕ Search

Biomedical subjects

R K Olson

Publications and source records attributed to R K Olson.

At least 19 recordsLinked to original sources

Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci.

BACKGROUND: There is a growing interest in the study of the genetic origins of comorbidity, a direct consequence of the recent findings of genetic loci that are seemingly linked to more than one disorder. There are several potential causes for these shared regions of linkage, but one possibility is that these loci may harbor genes with manifold effects. The established genetic correlation between reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD) suggests that their comorbidity is due at least in part to genes that have an impact on several phenotypes, a phenomenon known as pleiotropy. METHODS: We employ a bivariate linkage test for selected samples that could help identify these pleiotropic loci. This linkage method was employed to carry out the first bivariate genome-wide analysis for RD and ADHD, in a selected sample of 182 sibling pairs. RESULTS: We found evidence for a novel locus at chromosome 14q32 (multipoint LOD=2.5; singlepoint LOD=3.9) with a pleiotropic effect on RD and ADHD. Another locus at 13q32, which had been implicated in previous univariate scans of RD and ADHD, seems to have a pleiotropic effect on both disorders. 20q11 is also suggested as a pleiotropic locus. Other loci previously implicated in RD or ADHD did not exhibit bivariate linkage. CONCLUSIONS: Some loci are suggested as having pleiotropic effects on RD and ADHD, while others might have unique effects. These results highlight the utility of this bivariate linkage method to study pleiotropy.

Adolescent↗

Early predictors of letter knowledge.

This study examined the influence of phonological memory and rapid naming on the development of letter knowledge. Participants were 77 Dutch children, who were followed from the start of their first kindergarten year (mean age 4 years 6.8 months) to the end of their second kindergarten year. Phonological memory was assessed by a nonword repetition test and a sentence repetition test. Rapid naming involved object naming. The study revealed found a substantial effect of phonological memory on the acquisition of letter knowledge that was particularly related to the ability to repeat nonwords. Vocabulary knowledge did not have an independent effect on letter learning after phonological memory was controlled. The study also showed a small effect of rapid naming on the acquisition of letter knowledge that was independent of the effect of phonological memory. Finally, the study also provided further evidence for a specific relation between phonological memory and vocabulary acquisition.

Child, Preschool↗

Evidence for linkage and association with reading disability on 6p21.3-22.

Reading disability (RD), or dyslexia, is a common heterogeneous syndrome with a large genetic component. Several studies have consistently found evidence for a quantitative-trait locus (QTL) within the 17 Mb (14.9 cM) that span D6S109 and D6S291 on chromosome 6p21.3-22. To characterize further linkage to the QTL, to define more accurately the location and the effect size, and to identify a peak of association, we performed Haseman-Elston and DeFries-Fulker linkage analyses, as well as transmission/disequilibrium, total-association, and variance-components analyses, on 11 quantitative reading and language phenotypes. One hundred four families with RD were genotyped with a new panel of 29 markers that spans 9 Mb of this region. Linkage results varied widely in degree of statistical significance for the different linkage tests, but multipoint analysis suggested a peak near D6S461. The average 6p QTL heritability for the 11 reading and language phenotypes was 0.27, with a maximum of 0.66 for orthographic choice. Consistent with the region of linkage described by these studies and others, there was a peak of transmission disequilibrium with a QTL centered at JA04 (chi2=9.48; empirical P=.0033; orthographic choice), and there was strong evidence for total association at this same marker (chi2=11.49; P=.0007; orthographic choice). Although the boundaries of the peak could not be precisely defined, the most likely location of the QTL is within a 4-Mb region surrounding JA04.

Adolescent↗

Etiology of reading difficulties and rapid naming: the Colorado Twin Study of Reading Disability.

Children with reading deficits perform more slowly than normally-achieving readers on speed of processing measures, such as rapid naming (RN). Although rapid naming is a well-established correlate of reading performance and both are heritable, few studies have attempted to assess the cause of their covariation. Measures of rapid naming (numbers, colors, objects, and letters subtests), phonological decoding, orthographic choice, and a composite variable (DISCR) derived from the reading recognition, reading comprehension, and spelling subtests of the Peabody Individual Achievement Test were obtained from a total of 550 twin pairs with a positive school history of reading problems. Basic DeFries and Fulker (DF) multiple regression models for the analysis of selected twin data confirmed the heritable nature of phonological decoding, orthographic choice, DISCR, and rapid-naming composites. Bivariate DF models were employed to examine the extent to which deficits in the three reading-related measures covary genetically with rapid naming. Significant bivariate heritability estimates for each of the reading measures with the numbers and letters rapid-naming composite were also obtained. As expected, univariate sib-pair linkage analyses indicated the presence of a quantitative trait locus (QTL) on chromosome 6p21.3 for phonological decoding and orthographic choice deficits. Bivariate linkage analyses were then conducted to test the hypothesis that this QTL for reading difficulties is pleiotropic for slower performance on RN tasks. The results obtained from these analyses did not provide substantial evidence that the 6p QTL for reading difficulties has significant effects on rapid naming; however, larger samples would be required to test this hypothesis more rigorously.

Adolescent↗

A comparison of the cognitive deficits in reading disability and attention-deficit/hyperactivity disorder.

This study used a nonreferred sample of twins to contrast the performance of individuals with reading disability (RD; n = 93), attention-deficit/hyperactivity disorder (ADHD; n = 52), RD and ADHD (n = 48), and neither RD nor ADHD (n = 121) on measures of phoneme awareness (PA) and executive functioning (EF). Exploratory factor analysis of the EF measures yielded underlying factors of working memory, inhibition, and set shifting. Results revealed that ADHD was associated with inhibition deficits, whereas RD was associated with significant deficits on measures of PA and verbal working memory. The RD + ADHD group was most impaired on virtually all measures, providing evidence against the phenocopy hypothesis as an explanation for comorbidity between RD and ADHD.

Adolescent↗

Nursing student residency program: a model for a seamless transition from nursing student to RN.

It takes a relatively long time for new nursing graduates to become oriented and comfortable with work routines on the nursing unit. To address the problem, the authors formed a partnership among three educational programs and three hospitals. This article describes a 900-hour residency program for senior baccalaureate nursing students to ease their transition into the role of beginning-level staff nurse in an acute-care setting. The benefits to the hospitals were decreased orientation time, less turnover in staff (50% at 2 years), and lower recruitment costs.

Attitude of Health Personnel↗

Genetic and environmental influences on orthographic and phonological skills in children with reading disabilities.

Data from identical and fraternal twins were analyzed to estimate the proportions of genetic and environmental influences on group deficits in accuracy and, when available, speed for printed word recognition and for related skills in phonological decoding (PD), orthographic coding (OC), and phoneme awareness (PA). In addition, bivariate genetic analyses were employed to estimate the degree of common genetic influence on group deficits across these different reading and language skills. About half of the group deficits in each of the skills were due to genetic influences, and the genetic origins were largely shared among the measures (r(g) = .53 - .99), except for those between OC and PA (r(g) = .28 - .39). Implications of the results are discussed for models of reading disability and remediation.

Adolescent↗

SOCS3 mediates feedback inhibition of the leptin receptor via Tyr985.

During leptin signaling, each of the phosphorylated tyrosine residues on the long form of the leptin receptor (LRb) mediates distinct signals. Phosphorylated Tyr(1138) binds STAT3 to mediate its tyrosine phosphorylation and transcriptional activation, while phosphorylated Tyr(985) binds the tyrosine phosphatase SHP-2 and reportedly mediates both activation of ERK kinases and inhibition of LRb-mediated STAT3 activation. We show here that although mutation of Tyr(985) does not alter STAT3 signaling by erythropoietin receptor-LRb (ELR) chimeras in transfected 293 cells at short times of stimulation, this mutation enhances STAT3 signaling at longer times of stimulation (>6 h). These data suggest that Tyr(985) may mediate feedback inhibition of LRb signaling by an LRb-induced LRb inhibitor, such as SOCS3. Indeed, SOCS3 binds specifically to phosphorylated Tyr(985) of LRb, and SOCS3 fails to inhibit transcription by ELR following mutation of Tyr(985), suggesting that SOCS3 inhibits LRb signaling by binding to phosphorylated Tyr(985). Additionally, overexpression of SOCS3, but not SHP-2, impairs ELR signaling, and the overexpression of SHP-2 blunts SOCS3-mediated inhibition of ELR signaling. Thus, our data suggest that in addition to mediating SHP-2 binding and ERK activation during acute stimulation, Tyr(985) of LRb mediates feedback inhibition of LRb signaling by binding to LRb-induced SOCS3.

Carrier Proteins↗

Individual differences in gains from computer-assisted remedial reading.

Two hundred second- to fifth-grade students (aged approximately 7 to 11 years) spent 29 h in a computer-assisted remedial reading program that compared benefits from accurate, speech-supported reading in context, with and without explicit phonological training. Children in the "accurate-reading-in-context" condition spent 22 individualized computer hours reading stories and 7 small-group hours learning comprehension strategies. Children in the "phonological-analysis" condition learned phonological strategies in 7 small-group hours, and divided their computer time between phonological exercises and story reading. Phonologically trained children gained more in phonological skills and untimed word reading; children with more contextual reading gained more in time-limited word reading. Lower level readers gained more, and benefited more from phonological training, than higher level readers. In follow-up testing, most children maintained or improved their levels, but not their rates, of training gains. Phonologically trained children scored higher on phonological decoding, but children in both conditions scored equivalently on word reading.

Child↗

Varieties of developmental reading disorder: genetic and environmental influences.

There is widespread support for the notion that subgroups of dyslexics can be identified who differ in their reading profiles: Developmental phonological dyslexia is characterized by poor nonword reading, while developmental surface dyslexia is distinguished by a particular difficulty in reading irregular words. However, there is much less agreement about how these subtypes, and particularly the surface dyslexic pattern, are to be accounted for within theoretical models of the reading system. To assist in addressing this issue, the heritability of reading deficits in dyslexic subtypes was examined using a twin sample. Subjects' scores on (a) an exception word reading task and (b) a nonword reading task were used to create a subtype dimension, and surface and phonological dyslexic subgroups were selected from the ends of this distribution. Reading deficits were found to be significantly heritable in both subgroups. However, the genetic contribution to the group reading deficit was much greater in the phonological dyslexics than in the surface dyslexics. The finding of differential genetic etiology across subtypes suggests that there is at least partial independence in the development of the cognitive processes involved in reading exception words and nonwords. Also, the results support accounts of surface dyslexia which emphasize a strong environmental contribution.

Adolescent↗

Training phonological awareness with and without explicit attention to articulation.

One hundred twenty-two second- to fifth-grade (7- to 11-year-old) children with reading difficulties studied phonological awareness with or without explicit attention to articulation and with or without manipulation of sounds. They all studied identical phonics and read stories on the computer with speech and decoding support for difficult words. Regular-instruction controls received regularly scheduled language-arts or reading activities. After 40 h of training, children in all three trained conditions outperformed controls on all tests except math. Conditions that manipulated sounds showed advantages over the condition without explicit practice manipulating sounds, but only on the two measures of phonological awareness. Articulatory awareness training yielded no unique benefits during this training period. Individual differences in response to treatment related to initial levels of phonological awareness, naming speed, IQ, and grade. The similar outcomes of the three conditions suggest that specific variations in good phonological training may be less important than once thought for most children with reading difficulties.

Attention↗

Reading disability: evidence for a genetic etiology.

A review of evidence for genetic influences on reading disabilities (RD) is presented, with focus on twin study design and sib-pair linkage techniques. DeFries-Fulker multiple regression analyses result in significant estimates of heritability for group deficits on several reading and language measures. Structural equation modeling techniques reveal the presence of significant common and independent genetic effects on individual differences on reading skills. Finally, linkage techniques confirm a candidate locus for RD on chromosome 6.

Adolescent↗

Quantitative-trait locus for specific language and reading deficits on chromosome 6p.

Reading disability (RD), or dyslexia, is a complex cognitive disorder manifested by difficulties in learning to read, in otherwise normal individuals. Individuals with RD manifest deficits in several reading and language skills. Previous research has suggested the existence of a quantitative-trait locus (QTL) for RD on the short arm of chromosome 6. In the present study, RD subjects' performance in several measures of word recognition and component skills of orthographic coding, phonological decoding, and phoneme awareness were individually subjected to QTL analysis, with a new sample of 126 sib pairs, by means of a multipoint mapping method and eight informative DNA markers on chromosome 6 (D6S461, D6S276, D6S105, D6S306, D6S258, D6S439, D6S291, and D6S1019). The results indicate significant linkage across a distance of at least 5 cM for deficits in orthographic (LOD = 3.10) and phonological (LOD = 2.42) skills, confirming previous findings.

Adult↗

Cluster of postinjection abscesses related to corticosteroid injections and use of benzalkonium chloride.

Benzalkonium chloride (BC) is an unreliable disinfectant. A matched case-control study and environmental investigation were conducted to determine the cause of and risk factors for a cluster of postinjection abscesses at a private medical clinic where BC was used as a disinfectant. Twenty-eight case-patients who had an abscess at the injection site were matched with 126 control patients who had received an intramuscular injection at the clinic on the same day. Risk factors for abscess development in a multivariable logistic model were corticosteroid injection and being female. All case-patients had received a corticosteroid injection from a multidose vial. Cultures of abscesses from 20 of 23 case-patients grew Pseudomonas aeruginosa. Cultures of BC prepared at the clinic also grew P aeruginosa, suggesting that BC was the source of infection. Injection site cleaning with BC did not appear to be the route of infection since use of BC at the time of injection was not associated with abscess development. A more likely route of infection was injection of contaminated corticosteroid from multidose vials that could have been inoculated with pseudomonads via needle puncture after vial septa were wiped with contaminated BC. Benzalkonium chloride should not be used to clean injection vial septa or injection sites.

Abscess↗

Multivariate behavioral genetic analysis of achievement and cognitive measures in reading-disabled and control twin pairs.

In recent years behavioral genetic studies have provided conclusive evidence that reading disability and related learning disorders, such as mathematics disability, are due at least in part to heritable factors (DeFries et al. 1987; Alarcón et al. 1997). Although the observed relationship between performance in these areas also may be due substantially to genetic influences (Light and DeFries 1995; Thompson et al. 1991), relatively few studies have examined the genetic and environmental etiology of this covariation in a multivariate framework. In the present study data from 196 identical (monozygotic; MZ) and 155 same-sex fraternal (dizygotic; DZ) twin pairs in which at least one member of each pair evidenced reading problems in school (reading disabled) were subjected to a multivariate behavioral genetic analysis. Structural equation models were fitted to twin data for verbal IQ (VIQ), phonological decoding ability (PHON), reading performance (READ), and mathematics performance (MATH) to assess the extent to which VIQ and PHON mediate the observed covariation between READ and MATH. Results suggest that VIQ and PHON account for most of the covariation between READ and MATH. Moreover, approximately 82% of the observed correlation between READ and MATH was due to genetic factors that also influence VIQ and PHON. When data from 132 MZ and 91 same-sex DZ control twin pairs in which neither twin had a history of reading problems were subjected to the same analyses, the covariation between READ and MATH was found to be due to both genetic and shared environmental influences. Thus genetic factors that influence VIQ and PHON also contribute to the observed covariation between READ and MATH in both a reading-disabled and a control twin sample.

Achievement↗

Eye fixation patterns among dyslexic and normal readers: effects of word length and word frequency.

Eye fixation patterns of 21 dyslexic and 21 younger, nondyslexic readers were compared when they read aloud 2 texts. The study examined whether word-frequency and word-length effects previously found for skilled adult readers would generalize equally to younger dyslexic and nondyslexic readers. Significantly longer gaze durations and reinspection times were found for low-frequency and long words than for high-frequency and short words. The effects also showed up in the number of fixations on the target words. The effects did not differ significantly for the 2 experimental groups. The results run counter to the oculomotor dysfunction hypothesis of dyslexia. Instead, they support the view that both dyslexic and nondyslexic readers' eye fixation patterns reflect their difficulties in successfully identifying words in a text.

Adolescent↗

The external validity of age- versus IQ-discrepancy definitions of reading disability: lessons from a twin study.

Recent research has raised the question of whether age- and IQ-discrepancy forms of reading disability (RD) are distinguishable in terms of either their underlying linguistic deficit or their response to treatment, thus threatening the external validity of the traditional distinction between specific reading retardation and reading backwardness. The present study pursued the external validity of this distinction in three domains: (a) genetic etiology, (b) sex ratio and clinical correlates, and (c) neuropsychological profiles. Each of these domains was explored in the RD (n = 640) and control (n = 436) twins participating in the Colorado Reading Project (514 males, 562 females, with an overall mean age of 12.42 years). Little evidence for external validity was found in terms of the clinical correlates of attention deficit-hyperactivity disorder (ADHD), immune disorders, or handedness. Most importantly, there was no evidence of differential genetic etiology of the two phenotypes in this sample, in that deficits in both phenotypes were similarly heritable (h2g = .40 and .46 for age and IQ phenotypes, respectively) and the genetic correlation between them was high (rG = .88 to .96). However, the genetic and neuropsychological profile analyses did suggest that age- and IQ-discrepancy definitions of RD may relate differentially to component reading processes, such as phonological awareness and orthographic coding.

Attention Deficit Disorder with Hyperactivity↗

Mentorship.

Explore the source record for details and available documents.

Career Mobility↗