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.

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.

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.

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.

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.

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.

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.

Problem solving limitations among cytogenetically expressing fragile X women.

Neurocognitive deficits among fragile X individuals have been reported for both high and low functioning individuals. Recent findings from our research suggest a specific neurocognitive phenotype among fragile X women that is characterized by deficits on tests of frontal lobe functioning. In this paper, we examine in more detail the performance of 10 cytogenetically expressing women and 10 control women on 2 problem solving measures considered sensitive to frontal lobe functions: the Contingency Naming Test and the Tower of Hanoi.

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.

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).

Asperger's syndrome: evidence of an empirical distinction from high-functioning autism.

This study compared the neuropsychological profiles of individuals with high-functioning autism (HFA) and Asperger's syndrome (AS). In comparison with matched controls, both groups were impaired on executive function tests. Only the HFA group demonstrated deficits in theory of mind and verbal memory, performing more poorly than both controls and AS subjects.

Executive function deficits in high-functioning autistic individuals: relationship to theory of mind.

A group of high-functioning autistic individuals was compared to a clinical control group matched on VIQ, age, sex and SES. Significant group differences were found on executive function, theory of mind, emotion perception and verbal memory tests, but not on spatial or other control measures. Second-order theory of mind and executive function deficits were widespread among the autistic group, while first-order theory of mind deficits were found in only a subset of the sample.

Evidence for major gene transmission of developmental dyslexia.

Objective: --There is strong evidence that developmental dyslexia is both familial and heritable, but the mode of genetic transmission has remained unclear. In this article, we examine specific genetic hypotheses about the mode of transmission of developmental dyslexia by performing complex segregation analyses.

Design: --A family study method was applied, whereby the relatives of dyslexic probands were examined for dyslexia.

Spelling errors and reading fluency in compensated adult dyslexics.

Generally, a person who is diagnosed as dyslexic remains diagnosably dyslexic all his/her life. However, occasionally, an individual compensates for his/her difficulties in some way, and by adulthood is no longer diagnosably dyslexic. In what ways are these compensated dyslexics different from both dyslexics and nondyslexics? We compared IQ, achievement test, and spelling error scores in adult dyslexics, adult nondyslexics, and adult compensated dyslexics (N=25) in the two studies reported here.

Phonological processing skills and deficits in adult dyslexics.

This article presents 4 experiments aimed at defining the primary underlying phonological processing deficit(s) in adult dyslexia. 5 phonological processes, all involving spoken language, were studied: phoneme perception, phoneme awareness, lexical retrieval of phonology, articulatory speed, and phonetic coding in verbal short-term memory. 2 differently ascertained adult dyslexic groups, familial dyslexics (n = 15) and clinic dyslexics (n = 15), were the subjects in each experiment.

Neuropsychology of early-treated phenylketonuria: specific executive function deficits.

This study explored the hypothesis that children with early-treated phenylketonuria (PKU) are selectively impaired on executive function measures, even when still on diet. The rationale for this hypothesis is that even mild elevations in phenylalanine (Phe) can lead to lower central levels of biogenic amines, including dopamine (DA). We hypothesize that this mild DA depletion causes subtle prefrontal dysfunction, which in turn affects executive functions such as set maintenance, planning, and organized search.

Word identification in reading and the promise of subsymbolic psycholinguistics.

The vast literature concerning printed word identification either contradicts or provides ambiguous support for each of the central hypotheses of dual-process theory, the most widely accepted theory of printed word identification. In contrast, clear, positive support exists for an alternative subsymbolic approach that includes a central role for the process of phonologic coding. This subsymbolic account is developed around a covariant learning hypothesis, derived from a design principle common to current learning algorithms within the subsymbolic paradigm.

Are there emotion perception deficits in young autistic children?

Two studies were conducted to test the hypothesis that young autistic children are selectively impaired on emotion perception tasks. Results supporting the hypothesis were found on two of the four measures when the controls used were matched on non-verbal mental age; performance on the other tasks was consistent with global deficits across affective and non-affective domains, rather than specific deficits in emotion perception. When the autistic group was compared with controls matched on verbal mental age, no group differences were found.

Familial dyslexia: use of genetic linkage data to define subtypes.

Specific reading disability is an example of a complex behavioral disorder which is clinically heterogeneous. It is probably also heterogeneous at the levels of etiology and process (pathogenesis), but there may not be a 1:1:1 mapping of etiology to process to clinical outcome. Thus, classification of cases by clinical features may not lead to discovery of the underlying processes or etiologies, and it may be profitable to define subgroups by etiology.

Using genetics to understand dyslexia.

This paper reviews what is currently known about the genetics of dyslexia and shows how genetic studies can help clarify which symptoms are primary and which are secondary in dyslexia. On the genetic side, current evidence supports the view that dyslexia is familial, substantially heritable, and heterogeneous in its genetic mechanisms. At least some forms of familial dyslexia appear to be autosomal dominant, with linkage studies supporting both a major locus on chromosome 15 and genetic heterogeneity.