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.     

The term comorbidity is of questionable value in reference to developmental disorders: data and theory

Over the last decade, there has been an enormous increase in the number of studies evaluating the overlap of developmental syndromes or disorders in both children and adults. This overlap of symptoms is often referred to as comorbidity, a term we criticize in this article because of its unsubstantiated presumption of independent etiologies. The premise of this article is that discrete categories do not exist in real life, and that it is misleading to refer to overlapping categories or symptoms as "comorbidities." We illustrate our point by presenting data from 179 school-age children evaluated with rigorous research criteria for seven disorders: reading disability (RD), attention-deficit/hyperactivity disorder (ADHD), developmental coordination disorder (DCD), oppositional defiant disorder (ODD), conduct disorder (CD), depression, and anxiety. Fully 50% of this sample met the criteria for at least two diagnoses. The children with ADHD were at higher risk of having at least a second disorder compared to the children with RD. Overall, the high rates of overlap of these behavioral, emotional, and educational deficits in this broadly ascertained sample support the idea that the concept of comorbidity is inadequate. We discuss the concept of atypical brain development as an explanatory idea to interpret the high rate of overlap of developmental disorders.     

The Co-occurrence of Reading Disorder and ADHD: Epidemiology, Treatment, Psychosocial Impact, and Economic Burden

The co-occurrence of reading disorder (RD) and attention-deficit/hyperactivity disorder (ADHD) has received increasing attention. This review summarizes the epidemiology, treatment strategies, psychosocial impact, and economic burden associated with the co-occurrence of these conditions. Common genetic and neuropsychological deficits may partially explain the high degree of overlap between RD and ADHD. Children who face the additive problems of both disorders are at greater risk for academic failure, psychosocial consequences, and poor long-term outcomes that persist into adulthood. However, few studies have evaluated interventions targeted to this patient population, underscoring the importance of identifying effective multimodal treatments that address the neuropsychological deficits of RD and ADHD through carefully planned clinical research.     

Confirmatory factor analysis of word recognition and process measures in the Colorado Reading Project

Measures of word recognition (REC) and two component skills, phonological coding (PHON) and orthographic coding (ORTH), were subjected to multivariate behavioral genetic analysis. Data were obtained from a sample of identical and fraternal twin pairs wherein at least one member of each pair was reading disabled (RD), and from a sample of twins wherein both members of each pair read in the normal range. Confirmatory factor analysis was used to fit the genetic, common environmental, and specific environmental covariance components for REC, PHON, and ORTH within the RD and normal simples. The resulting heritability estimates for REC, PHON, and ORTH were 0.59, 0.41, and 0.05 in the RD sample, and 0.35, 0.52, and 0.20 in the normal sample. After dropping the nonsignificant common environment parameters from the models, the genetic correlations between REC and PHON and between REC and ORTH were respectively 0.81 and 0.45 in the RD sample, and 0.68 and 0.45 in the normal sample. Differences between the genetic correlations were significant in the RD sample (p<0.005), marginally significant in the normal sample (p<0.10), and highly significant in the combined sample (p<0.001), indicating that genetic influences on individual differences in REC are more strongly related to genetic variance in PHON than in ORTH. These results are consistent with previous demonstrations of substantial genetic covariance between the disabled group's deficits in REC and PHON, but not between REC and ORTH (Olson et al., 1989; Olson and Rack, 1990).     

Examining the Etiology of Reading Disability as Conceptualized by the Hybrid Model

A fairly recent definition of reading disability (RD) is that in the form of a hybrid model. The model views RD as a latent construct that is manifested through various observable unexpected impairments in reading-related skills and through inadequate response to intervention. The current report evaluated this new conceptualization of RD from an etiological perspective. The sample consisted of 2,737 twin pairs in 1st through 4th grade (M_age = 8.52) from the Florida Twin Project on Reading. Using twin analyses, results showed that a substantial proportion of genetic variance, a small proportion of shared environmental, and a small proportion of nonshared environmental variance was attributed to the RD factor. Findings suggest that the etiological architecture of RD closely mirrors the structure of the hybrid model of RD.     

A comparative analysis of cognitive profiles: Monozygotic and dizygotic reading-disabled twins

Previous twin studies have provided evidence for genetic influences on reading disability (RD) or normal reading ability. The existence of subtypes of RD — each with its characteristic cognitive profile — has been suggested. Whether the etiology of the particular subtypes is genetic is uncertain. The present study examined within-pair comparisons of cognitive profiles (with respect to composites of general reading, symbol processing speed and sequential memory) in RD and control twins. Twin profile analysis were applied to these cognitive composites on 120 pairs of RD and control twins. Results showed a greater monozygotic (MZ) than dizygotic (DZ) resemblance in profiles indicating that individual differences in the patterning of cognitive abilities related to reading are genetically influenced.     

How is childhood emotional abuse related to major depression in adulthood? The role of personality and emotion acceptance

Accumulated evidence provides support that childhood emotional abuse (CEA) is related to adult major depressive disorder (MDD) outcomes. However, the psychological mechanisms of this relation are still not well understood. Changes in personality and emotion regulation are indicated to play a mediating role what should be examined in this paper. A sample of 123 MDD inpatients was examined in a prospective observational study with two times of measurement. Patients provided data on childhood trauma history, personality disorder (PD) traits and emotion acceptance. Self- and expert-ratings of depressive symptoms were assessed at baseline and at the end of treatment. Treatment duration as an objective indicator of treatment outcome was additionally considered. Partial correlation analyses revealed associations between CEA and self-ratings of MDD symptom severity and symptom improvement independent of sexual and physical abuse. Expert-ratings of depression and treatment duration were not related to CEA. Mediation analyses revealed that particularly the factors borderline psychopathology as well as acceptance of pleasant emotions mediated the association of CEA and self-rated MDD symptoms. Passive-aggressive PD traits mediated the link between CEA and a lower self-rated symptom improvement. CEA affect specific personality traits and acceptance of emotions. This association may play a critical role for self-reported depressive symptoms with implications for prevention, psychoeducation, and treatment of MDD.     

ADHD and reading disability in male adults: is there a connection?

The present study examined the comorbidity between attention-deficit/hyperactivity disorder (ADHD) and reading disability (RD) in male adults. Participants were 120 men, of whom 24 were classified as having ADHD. The basis for the diagnosis was two self-report scales validated by interviews and background data. An extensive battery was used to assess phonological abilities and various aspects of reading skills. No differences were obtained between adults with and without ADHD on measures of either phonological processing skills or word decoding, indicating a low comorbidity with RD. This finding was valid even when different criteria were used to diagnose RD. However, the two groups differed in reading comprehension, with individuals with ADHD performing poorly in tests of reading comprehension. These results are compatible with the view that reading comprehension involves many of the higher cognitive control functions assumed to be impaired in ADHD. However, these attentional control functions are not critical to word recognition, which is determined by a more encapsulated phonological processing module. The pattern of associations between ADHD and RD observed in the present study is explained with reference to the differential attentional demands of the two aspects of reading.     

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. On the symptom side, current evidence supports the view that the primary symptom in dyslexia is a deficit in the phonological coding of written language. This primary symptom likewise appears to be heritable. Recent evidence suggests that the heritable precursor to this written language deficit is a spoken language deficit in the skill of phoneme segmentation and awareness.     

Maternal stress in nonverbal learning disorder: a comparison with reading disorder

Maternal stress was assessed in mothers of children ages 8 to 11 years with learning disorders (LD). Age-, gender-, and IQ-matched children with reading disorders (RD; n = 31), children with nonverbal learning disorders (NVLD; n = 21), and typically developing control participants (n = 23) participated. Mothers of children with LD reported higher levels of stress, although the specific nature of the stress appeared to vary by disorder subtype: Mothers of children with RD reported higher levels of general distress, whereas mothers of children with NVLD reported higher levels of dysfunctional interactions with their child. The severity of the LD was strongly associated with maternal stress in the sample of children with NVLD but not in the sample of children with RD. In the sample of children with NVLD, the best predictors of maternal stress were 2 variables associated with the child: The lower the child's Performance IQ, the higher the level of maternal stress. Furthermore, the level of the child's internalizing symptoms was also a strong predictor of maternal stress in the sample of children with NVLD. In our sample of children with RD, the 3 best predictors were all variables associated with the mother, including her age, her level of reported psychiatric symptoms, and her overall level of social support.     

Reading difficulties and attention‐deficit/hyperactivity behaviours: evidence of an early association in a nonclinical sample

Attention‐deficit/hyperactivity disorder (ADHD) often co‐occurs with reading disability. A cross‐sectional study in an Italian‐speaking, nonclinical sample was conducted in an attempt to document the existence of an early association between reading difficulties (RD) and ADHD behaviours. We recruited a sample of 369 children in their first year at primary school. Of the sample, 8.4% displayed RD; 7.0% had ADHD; 3.5% presented both RD and ADHD behaviours; 50% of the children with ADHD displayed RD; 41.9% of those with RD displayed ADHD behaviours. Low socioeconomic status was associated with a fourfold increased probability of displaying RD (odds ratio = 3.98), but not ADHD behaviours. In this nonclinical sample, we detected an early association between ADHD behaviours and RD. A key role in this association may be played by inattention symptoms, which occurred with significantly increased frequency also in the group presenting only RD.     

Investigation of the Relationship of Attention Deficit Hyperactivity Disorder to the EKN1 Gene on Chromosome 15q21

Recently a gene, termed EKN1, has been identified because of a chromosomal breakpoint that occurred in this gene. This chromosomal breakpoint was found in 4 family members that had specific reading disabilities (RDs), indicating that disruption of this gene may be contributing to the risk of developing RDs. This gene was further supported as contributing to RD by association studies. Because of the evidence from twin studies for shared genetic factors contributing to RD and attention deficit hyperactivity disorder (ADHD), particularly inattention symptoms, we investigated the relationship of DNA markers in this gene to ADHD and ADHD symptoms in a sample of 186 nuclear families (probands, their parents, and affected siblings) collected through a proband with ADHD. We used 6 polymorphic DNA markers located across the gene, including the 2 markers previously reported to be associated with RD in a Finnish sample and a marker associated with RD in a sample of families collected in Toronto. We found a trend for association for several markers to the ADHD phenotype analyzed as a categorical trait using the transmission disequilibrium test and significant evidence for biased transmission of the haplotypes containing these markers, χ²(3) = 9.312, p =. 025. Using quantitative analysis, we observed evidence for association of one of the haplotypes to the inattention and hyperactive/impulsive symptom dimensions as reported by parents and to the inattention symptoms as reported by teachers, as well as a trend for association with the reading phenotypes of word identification and decoding. The results provide preliminary support for the role of the EKN1 chromosomal region in ADHD, suggesting that this region may contribute to ADHD symptoms in addition to RD.     

Temporal processing and reading disability

The present investigation examined thehypothesis that early auditory temporalprocessing deficits cause later specificreading disability by impairing phonologicalprocessing (Farmer & Klein 1995; Tallal1980, 1984). Temporal processing ability atschool entry was examined using Tallal'sRepetition Test in a large unselected sample ofover 500 children followed over subsequentyears. Although our data confirmed the presenceof certain non-speech auditory processingdeficits in children later classified asspecific reading-disabled, many findings wereclearly at odds with a causal interpretation ofthis relationship. (1) Reading-disabled (RD)children were impaired at school entry on thesubtest with long interstimulus intervals(ISIs) but not the critical short-ISIsubtest. (2) RD children were not inferior toreading-age (RA) controls. (3) A subgroup of RDchildren with evidence of temporal deficitswere no less proficient on later phonologicalor reading measures than RD children with noevidence of early temporal impairment. (4)Although there was a reliable concurrentcorrelation between temporal deficits andphonological awareness at school entry(suggesting a possible common causeexplanation), early temporal deficits did notpredict later phonological impairment,pseudoword processing difficulties, or specificreading disability. On the other hand, earlytemporal deficits did predict later oralreceptive vocabulary and reading comprehensionweaknesses. These findings suggest thatauditory temporal deficits in dyslexics may beassociated with the same dysphasic-typesymptoms observed by Tallal and her colleaguesin specific language-impaired populations, butdo not cause the core phonological deficitsthat characterize dyslexic groups.     

Genetic influences on specific versus nonspecific language impairment in 4-year-old twins

The present study addresses the distinction between specific (SLI) and nonspecific (NLI) language impairment at an etiological level by estimating the relative genetic and environmental contributions to language impairment in children with SLI and NLI. Drawing on a large longitudinal twin study, we tested a sample of 356 four-and-a-half-year-old children with low language ability and their twin partners at home on a range of language and nonverbal measures. For children whose language and nonverbal abilities were both low (NLI), genetic influence on language impairment was moderate and shared environmental influence was substantial. A similar pattern emerged for children whose language difficulties occurred in apparent isolation (SLI), although there was a trend for the genetic effects to be smaller for SLI than for NLI: Group heritability was .18 for SLI and .52 for NLI. Probandwise cross-concordances were suggestive of some genetic overlap between these two groups, but not with a subgroup of children with more severe cognitive delay.     

Longitudinal Study of Reading Disability and Attention-Deficit/Hyperactivity Disorder: Implications for Education

ABSTRACT— The majority of children who receive special education services meet criteria for reading disability (RD) or attention-deficit/hyperactivity disorder (ADHD), but additional research is needed to understand the long-term academic outcome of children in these groups. Individuals with RD only ( N = 71), ADHD only ( N = 66), both RD and ADHD ( N = 51), or neither disorder ( N = 118) were identified through the ongoing Colorado Learning Disabilities Research Center twin study and retested 5 years later. Results of the follow-up testing indicated that, in addition to ongoing reading difficulties, individuals with RD exhibited higher rates of academic difficulties, depression, and adolescent-onset conduct disorder. Initial ADHD status was associated with academic and social difficulties and elevated rates of nearly all comorbid disorders 5 years later. The group with comorbid RD and ADHD had more stable reading deficits than the group with RD without ADHD and exhibited greater impairment than groups with either disorder alone on outcome measures of academic functioning and social difficulties. These results suggest that individuals with both RD and ADHD are at increased risk for negative outcomes as adolescents and young adults and that when RD and ADHD co-occur, interventions should be provided for both disorders.     

Familial history of reading difficulty is associated with diffused bilateral brain activation during reading and greater association with visual attention abilities

Reading difficulty (RD; or dyslexia) is a heritable condition characterized by slow, inaccurate reading accompanied by executive dysfunction, specifically with respect to visual attention. The current study was designed to examine the effect of familial history of RD on the relationship between reading and visual attention abilities in children with RD using a functional MRI reading task. Seventy-one children with RD participated in the study. Based on parental reports of the existence of RD in one or both of each child’s parents, children with RD were divided into two groups: (1) those with a familial history of RD and (2) those without a familial history of RD. Reading and visual attention measures were collected from all participants. Functional MRI data during word reading was acquired in 30 participants of the entire cohort. Children with or without a familial history of RD demonstrated below-average reading and visual attention scores, with greater interaction between these measures in the group with a familial history of RD. Greater bilateral and diffused activation during word reading also were found in this group. We suggest that a familial history of RD is related to greater association between lower reading abilities and visual attention abilities. Parental history of RD therefore may be an important preschool screener (before reading age) to prompt early intervention focused on executive functions and reading-related skills.     

Using genetic markers in unpedigreed populations to detect a heritable trait

Before a breeder invests selection pressure on a trait of interest, it needs to be established whether that trait is actually heritable. Some traits may not have been measured widely in pedigreed populations, for example, a disease or deformity may become more prevalent than previously, but is still relatively rare. One approach to detect inheritance would be to screen a commercial population to obtain a sample of "affecteds" (the test group) and to also obtain a random control group. These indi- viduals are then genotyped with a set of genetic markers and the relationships between individuals within each group estimated. If the relatedness is higher in the test group than in the control group, this provides initial evidence for the trait being heritable. A power simulation shows that this approach is feasible with moderate resources.     

Differential risk for developmental reading disorders in the offspring of compensated versus noncompensated parents

When one or both parents have a history of developmental reading disorder (RD) in childhood, the risk to their offspring for developing reading problems is substantially increased. However, risk research has usually assumed a stability of reading problems across the lifespan (i.e., if a parent was affected in childhood, he or she remains affected in adulthood). Yet, some individuals with RD in childhood compensate for the disorder as they grow older. Both an environmental and genetic hypothesis would predict that the risk for RD in offspring will vary as a function of parental compensation. This study examined whether risk to offspring was dependent on the parents' successful or unsuccessful compensation for their childhood reading problems. Two large family data sets were analyzed (N=907). Diagnoses with either an age discrepant or IQ discrepant criteria essentially showed that having at least one still affected parent (i.e., RD both as a child and as an adult) put the offspring at a higher risk for RD than having at least one compensated parent (i.e., RD as a child but not as an adult). The lowest risk to an offspring occurred when both parents were never affected (i.e., not RD as a child or as an adult). The implications of these findings are discussed with regard to counseling and early diagnosis of reading problems.     

Boys with reading disabilities and/or ADHD: distinctions in early childhood

We examined distinctions in the early childhood characteristics of boys with reading disabilities (RD) and/or attention-deficit/ hyperactivity disorder (ADHD). A four-group mixed design consisting of boys identified at age 11 with reading disabilities only (RD only; n = 46), reading disabilities and ADHD (RD/ADHD; n = 16), ADHD only (n = 20), and a comparison group (n = 281) was utilized. Differences on receptive and expressive language and temperament for ages 3 and 5 were investigated. Analyses indicated that the boys from the RD-only group performed worse on measures of receptive and expressive language. The results also indicated that boys from the RD/ADHD groups consistently performed worse on measures of receptive language and exhibited more behaviors indicative of an undercontrolled temperament. In summary, we suggest that reading disabilities and ADHD represent moderately unique disorders that frequently co-occur and are characterized by distinct developmental pathways.     

Is there an increased familial prevalence of psychopathology in children with nonverbal learning disorders?

The cognitive and behavioral symptoms of nonverbal learning disabilities (NLD) have been described by previous investigators. Nevertheless, we know far less about the potential genetic contributions that may predispose a child to have NLD. An endophenotype model was investigated in 5 samples of children ages 9 to 15 years: NLD (n = 32); reading disorders (RD; n = 59); participants with a psychiatric diagnosis but without a learning disability (n = 55); typically developing controls (n = 31); and children with velocardiofacial syndrome (VCFS), a chromosomal deletion syndrome that has been proposed as being an exemplar of NLD (VCFS + NLD; n = 20). Based on a family genetic interview, the authors' data suggest that children with NLD, RD, or a psychiatric diagnosis have a higher prevalence rate of attention-deficit/hyperactivity disorder (ADHD) and substance abuse/dependence. Psychiatric controls and children with NLD--but not children with RD-- showed higher prevalence rates of familial bipolar disorder.