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Biomedical subjects

B F Pennington

Publications and source records attributed to B F Pennington.

At least 19 recordsLinked to original sources
PubMed1995

Quantitative trait locus for reading disability: correction.

In the news article "Can risky mergers save hospital-based research?" by Wade Roush (19 May, p. 968), the statement that University Hospitals of Cleveland rose from 20th in the rankings of teaching hospitals funded by the National Institutes of Health (NIH) in 1991 to 12th at present was incorrect. In fact, it was Case Western Reserve University (CWRU), with which University Hospitals of Cleveland is affiliated, that received $69 million in NIH grants in 1993, making it the 20th largest recipient of such grants among medical centers; the university then received $97 million in 1994, raising its rank to 12th. About $15 million of the increase, or 53%, was attributable to CWRU's 1992 affiliation with Henry Ford Hospital in Detroit. Other hospitals affiliated with Case Western include MetroHealth Medical Center, Mount Sinai Medical Center, St. Luke's Medical Center, and Cleveland Veterans' Affairs Medical Center.

Chromosome Mapping↗
PubMed1994

Quantitative trait locus for reading disability on chromosome 6.

Interval mapping of data from two independent samples of sib pairs, at least one member of whom was reading disabled, revealed evidence for a quantitative trait locus (QTL) on chromosome 6. Results obtained from analyses of reading performance from 114 sib pairs genotyped for DNA markers localized the QTL to 6p21.3. Analyses of corresponding data from an independent sample of 50 dizygotic twin pairs provided evidence for linkage to the same region. In combination, the replicate samples yielded a chi 2 value of 16.73 (P = 0.0002). Examination of twin and kindred siblings with more extreme deficits in reading performance yielded even stronger evidence for a QTL (chi 2 = 27.35, P < 0.00001). The position of the QTL was narrowly defined with a 100:1 confidence interval to a 2-centimorgan region within the human leukocyte antigen complex.

Adolescent↗
PubMed1994

Emotional and neurocognitive deficits in fragile X.

We have studied the neurocognitive deficit in premutation and full mutation women as compared to control women and to explore the relationship between those deficits and the incidence of emotional problems. Four groups of women were examined: two fragile X (fra(X)) negative control groups, one of which grew up in fra(X) families and one not; and two DNA positive groups, one with a premutation (CGG repeats < 200) and one with an expanded mutation (CGG repeats > 200). All women were assessed using the MMPI-2, the SADS-L, and a battery of neuropsychological tests. Full mutation women had lower scores on composite measures of executive function and nonverbal function. There was no difference between the groups in terms of the lifetime incidence of depressive and anxiety disorders on the SADS-L. Full mutation women displayed Lie scales higher than the other groups on the MMPI-2. Neurocognitive measures were not related to SADS-L diagnoses but were related to the Lie scale on the MMPI-2. Finally, number of CGG repeats was related to the neuropsychological variables and the Lie scale.

Adult↗
PubMed1994

Commingling and segregation analysis of reading performance in families of normal reading probands.

This paper reports the results of commingling and genetic segregation analyses performed on a quantitative reading phenotype in 125 families ascertained through normal, nondisabled readers. Commingling analysis using SKUMIX suggested that the reading phenotype best fit a skewed, single distribution model. Complex segregation using POINTER was then performed on the power adjusted data. While there were some analytical ambiguities and complexities, the segregation analysis indicated that there was familial transmission of the phenotype and that a significant percentage of the variance in this phenotype could be attributed to a major gene with dominance. Because the estimated frequency of the putative dominant allele is .35, 57% of the population would carry at least one copy of this allele. This common allele, with low penetrance, accounted for 54% of the phenotypic variance in reading scores. These findings are considered in the context of our earlier report of major gene influence ona qualitative dyslexic phenotype in a sample of 133 dyslexic proband families that were originally matched to the present sample of control families (Pennington et al., 1991). The applicability of a classic single gene, multifactorial-polygenic, and oligogenic or QTL models for reading ability/disability is discussed.

Child↗
PubMed1994

Social cognition skills among females with fragile X.

Emotion perception and perspective-taking skills were examined among women with or without the fragile X gene. The performance of 56 control women was compared to the performance of 46 women who were carriers of the fragile X gene. Twenty-seven of the carrier women had 0-1% cytogenetic expression and did not appear affected by the gene, whereas the remaining 19 women had > or = 2% cytogenetic expression and did appear affected by the gene. The emotion perception task employed was one for which deficits have been reported among individuals with autism. The results show that performance on this emotion-perception test and the perspective-taking measure was significantly related to full-scale IQ scores, but not to fragile X group status when effects of IQ were removed. Thus the results do not support the hypothesis that perspective-taking or emotion perception deficits are a component of the fragile X phenotype in females and represent an important differentiation between fragile X and autism.

Adolescent↗
PubMed1993

Can standard measures identify subclinical markers of autism?

This study compared the executive function and theory-of-mind abilities of siblings of autistic individuals to those of siblings of learning-disabled controls. Three different analyses of the dependent measures provided convergent support for a potential subclinical marker in the executive function domain. No group differences in theory-of-mind abilities were found. However, power analyses revealed that the measures employed in this study, which are typically used with autistic individuals, were not sufficiently sensitive to detect any group differences that might exist in "unaffected" family members. Suggestions for future research are provided, including the need to develop more sensitive tasks that produce larger effects and measure more elementary cognitive operations.

Adolescent↗
PubMed1993

Executive function and social communication deficits in young autistic children.

Preschool-aged, autistic children were compared with both developmentally delayed children of similar non-verbal mental age and normally developing children of similar verbal skill on measures of executive function and social communication skills. Autistic children exhibited significantly more perseverative responses on a test of executive function when compared to both comparison groups. Autistic children also exhibited significantly fewer joint attention and social interaction behaviors. Moreover, a significant relationship was found between executive function skill and the two social communication skills, which was independent of group membership or verbal ability. Competing hypotheses to account for the relationship between executive function deficits and social communication deficits in autism are discussed.

Attention↗
PubMed1993

Hyperactivity and spelling disability: testing for shared genetic aetiology.

The influence of genetic factors in the comorbidity of spelling disability and hyperactivity was investigated in two samples of 190 and 260 same sex twin pairs. The method of bivariate group heritability was used to estimate the genetic correlation for spelling disability and hyperactivity. A similar though not statistically significant value for the genetic correlation was obtained for the two samples (0.29 and 0.42). It was estimated that approximately 75% of the co-occurrence of these two conditions was due to shared genetic influences.

Adult↗
PubMed1993

The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity.

The specificity of the neurocognitive profile among women with the fragile X gene, in relation to cytogenetic expression, was examined among 22 women with > or = 2% expression, 35 0% obligate carriers, and 60 controls. Measures were obtained for intellectual ability; achievement; and verbal, nonverbal, memory, and executive functions. Findings show that no group consistently demonstrated global deficits in the verbal, nonverbal or memory domains. In contrast, even when controlling for the effects of IQ, the expressing women exhibited (1) deficits on measures of executive function, (2) deficits in measures of attention and visual-spatial skills, and (3) enhanced performance on verbal, but not figural, memory. No deficits were seen among obligate carriers. This study supports the notion that executive function deficits and/or visual-spatial skills may account for the behavioral and cognitive manifestations of fragile X.

Adolescent↗
PubMed1992

Dyslexia.

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Dyslexia↗
PubMed1992

Attention deficit disorder in reading-disabled twins: evidence for a genetic etiology.

In order to assess the genetic etiology of attention deficit hyperactivity disorder (ADHD), the basic regression model for the analysis of selected twin data (DeFries & Fulker, 1985, 1988) was fitted to questionnaire data (DICA: Diagnostic Interview for Children and Adolescents; Herjanic, Campbell, & Reich, 1982) for 37 identical and 37 fraternal twin pairs tested in the Colorado Reading Project. Results of this analysis suggest that ADHD is highly heritable. Moreover, adjusting DICA scores for either IQ or reading performance differences did not substantially change parameter estimates. In future analyses of larger data sets, distinguishing between possible subtypes of attentional problems (e.g., ADD with or without hyperactivity) may facilitate tests of more searching etiological questions.

Achievement↗
PubMed1992

Reading disability, immune disorders and non-right-handedness: twin and family studies of their relations.

Geschwind and colleagues discussed associations among learning disorders, immune disorders and non-right-handedness. In this study, we examined the associations between reading disability (RD) and both immune disorders (ID) and non-right-handedness (NRH) in family and twin samples (total N = 1731 cases) identified through an RD proband. We also conducted co-segregation analyses to ascertain the degree to which NRH, ID and RD were biologically related. There was little evidence for an overall association between RD and NRH. There was not convergent evidence across all four samples for an association between RD and ID, although we did find an association between RD and ID in two of four samples. Nor was there strong support for a subtype where RD and NRH, or RD and ID, co-segregate in families. These data suggest that the associations postulated by Geschwind and colleagues are not robust in RD samples, although we cannot completely rule out the possibility of an RD plus ID subtype.

Abortion, Spontaneous↗
PubMed1992

A twin study of the etiology of comorbidity: attention-deficit hyperactivity disorder and dyslexia.

Monozygotic and dizygotic twin pairs, in which at least one member of each pair is reading disabled (RD), were assessed for attention-deficit hyperactivity disorder (ADHD). Within pair cross-concordances of the RD and ADHD qualitative diagnoses for monozygotic twins were larger than for dizygotic twins, although not significantly so (p less than 0.10). Thus, the data suggest that RD and ADHD may be primarily genetically independent. However, trends in the data and subtype analyses suggest that in some cases RD and ADHD may occur together because of a shared genetic etiology and that a genetically mediated comorbid subtype may exist.

Achievement↗
PubMed1992

Specific frontal lobe deficits among women with the fragile X gene.

The neurocognitive phenotype of fragile X and its relation to cytogenetic expression were examined among 10 fragile X women with > or = 2% expression, 10 0% obligate carriers, and 10 controls. Measures were obtained for intellectual ability, achievement, and verbal, nonverbal, memory, and frontal lobe functions. Results show that no group demonstrated deficits on verbal, nonverbal, or memory measures. In contrast, when controlling for effects of IQ, the expressing fragile X women exhibited (1) deficits on measures of frontal lobe functioning, and (2) enhanced performance on verbal, but not figural, memory. Frontal lobe deficits may account for behavioral and cognitive manifestations of fragile X.

Adolescent↗
PubMed1992

Gender ratios among reading-disabled children and their siblings as a function of parental impairment.

Gender ratios are reported for 374 reading-disabled probands and their 530 siblings included in five independent studies of reading disability. Ratios were tabulated for each study as a function of parental impairment (neither parent affected, mother only affected, father only affected, and both parents affected). Results reveal a small excess of male probands in referred and clinic samples of reading-disabled children, but not in research-identified samples. Gender ratios among siblings of reading-disabled probands are approximately 1:1. In addition, combined results indicate that gender ratios of neither probands nor their siblings vary substantially as a function of parental impairment.

Adult↗
PubMed1992

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↗