Specific disorders and broader phenotypes: the case of dyslexia

Two studies investigating the cognitive phenotype of dyslexia are described. Study 1 compared three groups of English and Italian children on speed of processing tasks: (a) children with dyslexia, (b) generally delayed poor readers and (c) CA-controls. In tests of simple and choice reaction time and two visual scanning tasks, children with dyslexia performed like controls and significantly faster than generally delayed poor readers. A second prospective longitudinal investigation of children at family risk of dyslexia showed that problems of literacy development were less circumscribed, with affected children showing phonological deficits in the context of more general oral language difficulties. An important finding was that the risk of dyslexia was continuous in this sample; among at-risk children with normal literacy development, mild impairments of phonological skills were apparent early in development, and subtle difficulties with reading fluency and spelling emerged in early adolescence. A case series extended these findings to show that phonological deficits alone are insufficient to explain literacy difficulties, and it is children with multiple deficits (including language problems) that are more likely to succumb to reading failure.     

Reading and Spelling Disabilities in Children with and Without a History of Early Language Delay: A Neuropsychological and Linguistic Study

Language delay is a frequent antecedent of literacy problems, and both may be linked to phonological impairment. Studies on developmental dyslexia have led to contradictory results due to the heterogeneity of the pathological samples. The present study investigated whether Italian children with dyslexia showed selective phonological processing deficits or more widespread linguistic impairment and whether these deficits were associated with previous language delay. We chose 46 children with specific reading deficits and divided them into two groups based on whether they had language delay (LD) or not (NoLD). LD and NoLD children showed similar, severe deficits in reading and spelling decoding, but only LD children showed a moderate impairment in reading comprehension. LD children were more impaired in phonological working memory and phonological fluency, as well as in semantic fluency, grammatical comprehension, and verbal IQ. These findings indicate the presence of a moderate but widespread linguistic deficit (not limited to phonological processing) in a subset of dyslexic children with previous language delay that does not generalize to all children with reading difficulties.     

Language deficits in dyslexic children: speech perception, phonology, and morphology

We investigated the relationship between dyslexia and three aspects of language: speech perception, phonology, and morphology. Reading and language tasks were administered to dyslexics aged 8-9 years and to two normal reader groups (age-matched and reading-level matched). Three dyslexic groups were identified: phonological dyslexics (PD), developmentally language impaired (LI), and globally delayed (delay-type dyslexics). The LI and PD groups exhibited similar patterns of reading impairment, attributed to low phonological skills. However, only the LI group showed clear speech perception deficits, suggesting that such deficits affect only a subset of dyslexics. Results also indicated phonological impairments in children whose speech perception was normal. Both the LI and the PD groups showed inflectional morphology difficulties, with the impairment being more severe in the LI group. The delay group's reading and language skills closely matched those of younger normal readers, suggesting these children had a general delay in reading and language skills, rather than a specific phonological impairment. The results are discussed in terms of models of word recognition and dyslexia.     

The impact of developmental speech and language impairments on the acquisition of literacy skills

Children with developmental speech/language impairments are at higher risk for reading disability than typical peers with no history of speech/language impairment. This article reviews the literacy outcomes of children with speech/language impairments, clarifying the differential risk for three groups of children: speech production impairments alone, oral language impairments alone, and speech production and oral language impairments. Children at greatest risk for reading and writing disabilities are children with language impairments alone and children with comorbid speech impairments and language impairments. For children with speech impairments alone, there is limited risk for literacy difficulties. However, even when reading skills are within the average range, children with speech impairments may have difficulties in spelling. Children with language impairments are likely to display reading deficits in word decoding and reading comprehension. It is not clear what role early literacy interventions play in the amelioration of reading difficulties in these populations.     

Modelling relations between sensory processing, speech perception, orthographic and phonological ability, and literacy achievement

The general magnocellular theory postulates that dyslexia is the consequence of a multimodal deficit in the processing of transient and dynamic stimuli. In the auditory modality, this deficit has been hypothesized to interfere with accurate speech perception, and subsequently disrupt the development of phonological and later reading and spelling skills. In the visual modality, an analogous problem might interfere with literacy development by affecting orthographic skills. In this prospective longitudinal study, we tested dynamic auditory and visual processing, speech-in-noise perception, phonological ability and orthographic ability in 62 five-year-old preschool children. Predictive relations towards first grade reading and spelling measures were explored and the validity of the global magnocellular model was evaluated using causal path analysis. In particular, we demonstrated that dynamic auditory processing was related to speech perception, which itself was related to phonological awareness. Similarly, dynamic visual processing was related to orthographic ability. Subsequently, phonological awareness, orthographic ability and verbal short-term memory were unique predictors of reading and spelling development.     

Facial speech gestures: the relation between visual speech processing,phonological awareness,and developmental dyslexia in 10‐year‐olds

Successful communication in everyday life crucially involves the processing of auditory and visual components of speech. Viewing our interlocutor and processing visual components of speech facilitates speech processing by triggering auditory processing. Auditory phoneme processing, analyzed by event‐related brain potentials (ERP), has been shown to be associated with impairments in reading and spelling (i.e. developmental dyslexia), but visual aspects of phoneme processing have not been investigated in individuals with such deficits. The present study analyzed the passive visual Mismatch Response (vMMR) in school children with and without developmental dyslexia in response to video‐recorded mouth movements pronouncing syllables silently. Our results reveal that both groups of children showed processing of visual speech stimuli, but with different scalp distribution. Children without developmental dyslexia showed a vMMR with typical posterior distribution. In contrast, children with developmental dyslexia showed a vMMR with anterior distribution, which was even more pronounced in children with severe phonological deficits and very low spelling abilities. As anterior scalp distributions are typically reported for auditory speech processing, the anterior vMMR of children with developmental dyslexia might suggest an attempt to anticipate potentially upcoming auditory speech information in order to support phonological processing, which has been shown to be deficient in children with developmental dyslexia.     

Mothers speak differently to infants at‐risk for dyslexia

Dyslexia is a neurodevelopmental disorder manifested in deficits in reading and spelling skills that is consistently associated with difficulties in phonological processing. Dyslexia is genetically transmitted, but its manifestation in a particular individual is thought to depend on the interaction of epigenetic and environmental factors. We adopt a novel interactional perspective on early linguistic environment and dyslexia by simultaneously studying two pre‐existing factors, one maternal and one infant, that may contribute to these interactions; and two behaviours, one maternal and one infant, to index the effect of these factors. The maternal factor is whether mothers are themselves dyslexic or not (with/without dyslexia) and the infant factor is whether infants are at‐/not‐at family risk for dyslexia (due to their mother or father being dyslexic). The maternal behaviour is mothers’ infant‐directed speech (IDS), which typically involves vowel hyperarticulation, thought to benefit speech perception and language acquisition. The infant behaviour is auditory perception measured by infant sensitivity to amplitude envelope rise time, which has been found to be reduced in dyslexic children. Here, at‐risk infants showed significantly poorer acoustic sensitivity than not‐at‐risk infants and mothers only hyperarticulated vowels to infants who were not at‐risk for dyslexia. Mothers’ own dyslexia status had no effect on IDS quality. Parental speech input is thus affected by infant risk status, with likely consequences for later linguistic development.     

Longitudinal relationships between speech perception,phonological skills and reading in children at high‐risk of dyslexia

Speech perception deficits are commonly reported in dyslexia but longitudinal evidence that poor speech perception compromises learning to read is scant. We assessed the hypothesis that phonological skills, specifically phoneme awareness and RAN, mediate the relationship between speech perception and reading. We assessed longitudinal predictive relationships between categorical speech perception, phoneme awareness, RAN, language, attention and reading at ages 5½ and 6½ years in 237 children many of whom were at high risk of reading difficulties. Speech perception at 5½ years correlated with language, attention, phoneme awareness and RAN concurrently and was a predictor of reading at 6½ years. There was no significant indirect effect of speech perception on reading via phoneme awareness, suggesting that its effects are separable from those of phoneme awareness. Children classified with dyslexia at 8 years had poorer speech perception than age‐controls at 5½ years and children with language disorders (with or without dyslexia) had more severe difficulties with both speech perception and attention control. Categorical speech perception tasks tap factors extraneous to perception, including decision‐making skills. Further longitudinal studies are needed to unravel the complex relationships between categorical speech perception tasks and measures of reading and language and attention.     

Brain activity patterns of phonemic representations are atypical in beginning readers with family risk for dyslexia

There is an ongoing debate whether phonological deficits in dyslexics should be attributed to (a) less specified representations of speech sounds, like suggested by studies in young children with a familial risk for dyslexia, or (b) to an impaired access to these phonemic representations, as suggested by studies in adults with dyslexia. These conflicting findings are rooted in between study differences in sample characteristics and/or testing techniques. The current study uses the same multivariate functional MRI (fMRI) approach as previously used in adults with dyslexia to investigate phonemic representations in 30 beginning readers with a familial risk and 24 beginning readers without a familial risk of dyslexia, of whom 20 were later retrospectively classified as dyslexic. Based on fMRI response patterns evoked by listening to different utterances of /bA/ and /dA/ sounds, multivoxel analyses indicate that the underlying activation patterns of the two phonemes were distinct in children with a low family risk but not in children with high family risk. However, no group differences were observed between children that were later classified as typical versus dyslexic readers, regardless of their family risk status, indicating that poor phonemic representations constitute a risk for dyslexia but are not sufficient to result in reading problems. We hypothesize that poor phonemic representations are trait (family risk) and not state (dyslexia) dependent, and that representational deficits only lead to reading difficulties when they are present in conjunction with other neuroanatomical or—functional deficits.     

Infant ERPs separate children at risk of dyslexia who become good readers from those who become poor readers

Dyslexia is heritable and associated with phonological processing deficits that can be reflected in the event‐related potentials (ERPs). Here, we recorded ERPs from 2‐month‐old infants at risk of dyslexia and from a control group to investigate whether their auditory system processes /bAk/ and /dAk/ changes differently. The speech sounds were presented in an oddball paradigm. The children were followed longitudinally and performed a word reading fluency test in second grade. The infant ERPs were subsequently analyzed according to high or low reading fluency in order to find a neurophysiological precursor of poor reading fluency. The results show that the fluent reading children (from both the at‐risk and the control group) processed the speech sound changes differentially in infancy as indicated by a mismatch response (MMR). In the control group the MMR was frontally positive and in the fluent at‐risk group the MMR was parietally positive. The non‐fluent at‐risk group did not show an MMR. We conclude that at‐risk children who became fluent readers were better at speech processing in infancy than those who became non‐fluent readers. This indicates a very early speech processing deficit in the group of later non‐fluent readers.     

Visual rapid naming and phonological abilities: different subtypes in dyslexic children

One implication of the double-deficit hypothesis for dyslexia is that there should be subtypes of dyslexic readers that exhibit rapid naming deficits with or without concomitant phonological processing problems. In the current study, we investigated the validity of this hypothesis for Portuguese orthography, which is more consistent than English orthography, by exploring different cognitive profiles in a sample of dyslexic children. In particular, we were interested in identifying readers characterized by a pure rapid automatized naming deficit. We also examined whether rapid naming and phonological awareness independently account for individual differences in reading performance. We characterized the performance of dyslexic readers and a control group of normal readers matched for age on reading, visual rapid naming and phonological processing tasks. Our results suggest that there is a subgroup of dyslexic readers with intact phonological processing capacity (in terms of both accuracy and speed measures) but poor rapid naming skills. We also provide evidence for an independent association between rapid naming and reading competence in the dyslexic sample, when the effect of phonological skills was controlled. Altogether, the results are more consistent with the view that rapid naming problems in dyslexia represent a second core deficit rather than an exclusive phonological explanation for the rapid naming deficits. Furthermore, additional non-phonological processes, which subserve rapid naming performance, contribute independently to reading development.     

Is a "Phoenician" reading style superior to a "Chinese" reading style? Evidence from fourth graders

This study compared normally achieving fourth-grade "Phoenician" readers, who identify nonwords significantly more accurately than they do exception words, with "Chinese" readers, who show the reverse pattern. Phoenician readers scored lower than Chinese readers on word identification, exception word reading, orthographic choice, spelling, reading comprehension, and verbal ability. When compared with normally achieving children who read nonwords and exception words equally well, Chinese readers scored as well as these children on word identification, regular word reading, orthographic choice, spelling, reading comprehension, phonological sensitivity, and verbal ability and scored better on exception word reading. Chinese readers also used rhyme-based analogies to read nonwords derived from high-frequency exception words just as often as did these children. As predicted, Phoenician and Chinese readers adopted somewhat different strategies in reading ambiguous nonwords constructed by analogy to high-frequency exception words. Phoenician readers were more likely than Chinese readers to read ambiguous monosyllabic nonwords via context-free grapheme-phoneme correspondences and were less likely to read disyllabic nonwords by analogy to high-frequency analogues. Although the Chinese reading style was more common than the Phoenician style in normally achieving fourth graders, there were similar numbers of poor readers with phonological dyslexia (identifying nonwords significantly more accurately than exception words) and surface dyslexia (showing the reverse pattern), although surface dyslexia was more common in the severely disabled readers. However, few of the poor readers showed pure patterns of phonological or surface dyslexia.     

The improvement of reading skills of L1 and ESL children using a Response to Intervention (RtI) Model

This study examined the development of literacy skills in children in a district that used a Response to Intervention (RTI) model. The district included children whose first language was English and children who were learning English as a second language (ESL). Tasks measuring phonological awareness, lexical access, and syntactic awareness were administered when the children entered school in kindergarten at age 5. Reading, phonological processing, syntactic awareness, memory, and spelling were administered in grade 7. When the children entered school, significant numbers of them were at risk for literacy difficulties. After systematic instruction and annual monitoring of skills, their reading abilities improved to the extent that only a very small percentage had reading difficulties. The results demonstrated that early identification and intervention and frequent monitoring of basic skills can significantly reduce the incidence of reading problems in both the ESL and language majority children.     

Spanish developmental dyslexia: Prevalence, cognitive profile, and home literacy experiences

This study was designed to examine the prevalence, cognitive profile, and home literacy experiences in subtypes of Spanish developmental dyslexia. The subtyping procedure used comparison with chronological-age-matched and reading-level controls on reaction times and accuracy responses to high-frequency words and pseudowords. Using regression-based procedures, 8 phonological dyslexics and 16 surface dyslexics were identified from a sample of 35 dyslexic fourth graders by comparing them with chronological-age-matched controls on reaction times to high-frequency word and pseudoword reading. However, when the dyslexic subtypes were defined by reference to reading-level controls, 12 phonological dyslexics were defined but only 5 surface dyslexics were identified. Both dyslexic subtypes showed a deficit in phonological awareness, but children with surface dyslexia also showed a deficit in orthographical processing assessed by a homophone comprehension task. This deficit was associated with poor home literacy experiences, with the group of parents with children matched in reading age, in comparison with the group of parents with children with surface dyslexia, reporting more literacy home experiences.     

Cross language learning disabilities and verbal versus spatial memory

The research reported in this talk involves comparisons of verbal and spatial memory tasks across groups of children (and adults) with different types of learning difficulties. The research focuses on children with literacy acquisition problems and investigates whether such problems are related to specific areas of deficit. In the first piece of research, children with dyslexia (literacy learning problems) and dyspraxia (motor deficits) were contrasted on measures of memory (for example, tasks that required the retention of sequences of verbal material or spatial movements) and additional measures of literacy (reading and spelling), phonological (awareness of sounds within words) and motor (fine and gross motor tasks) functioning. The data were consistent with a dissociation between tasks/groups such that dyslexics showed weak phonological processing but intact visuo-spatial processing, whereas children with dyspraxia showed weaknesses on task involving visuo-spatial information, but average levels of performance on tasks that required phonological processing. Similar results were identified amongst adult groups, consistent with a deviant level of functioning rather than a developmental delay. A second line of research contrasted children with or without literacy problems across language backgrounds (English, Arabic, Chinese and bilingual children). Consistent with the dyslexia data, children with poor English literacy skills showed weaknesses in verbal/phonological memory tasks but not in visuo-spatial memory. However, for Chinese-language children, visuo-spatial memory differed between good and poor literacy learners, but there was little evidence for verbal memory differences. In contrast, the Arabic and bilingual children showed differences in both verbal and visuo-spatial areas, although the evidence was consistent with enhanced visual/spatial skills amongst the good literacy groups, rather than poor literacy children showing weaknesses in those tasks. These data suggest that the influence of memory skills on learning may vary with the language of instruction. A final line of enquiry considers whether teaching strategies to children with learning difficulties may overcome some of the identified memory deficits and lead to better levels of learning. English language children with learning difficulties were taught visual and verbal strategies to support retention of materials in short-term memory tasks. In the majority of cases, learning was improved when it focused on visuo-spatial strategies but not when verbal strategies were used. These data support the relationship between learning difficulties and different aspects of short-term memory that may lead to poor levels of learning. It also presents evidence that memory (particularly those related to visuo-spatial) processes are influenced by the context within which learning is taking place, both in terms of the language of instruction and the strategies used to support learning. For some children with educational difficulties based around language-related deficits, visuo-spatial strategies may support acquisition.     

Reception class predictors of literacy skills

Background. In the last decade, there has been a growing interest, both in the UK and abroad, in developing early screening tests for dyslexia that can be used with very young children. In addition to measures of literacy achievement, such screening tests typically aim to identify underlying difficulties, such as phonological deficits, that might hinder a child's educational progress. The Dyslexia Early Screening Test (DEST; Nicolson & Fawcett, 1996 ) is an example of such a test that combines attainment and diagnostic indicators. Aim. The study reported assessed the ability of the DEST to predict future literacy skills in contrast with the prediction afforded by school‐based measures, such as letter knowledge. Sample. Participants were 45 boys attending a reception class, with a mean age of 4.87 years at the start of the study and 6.63 years at the end. Methods. Measures of literacy skills, phonological awareness, verbal memory, motor skill, and auditory processing were assessed using the DEST as the initial screening tool at Phase 1. Measures of letter knowledge, non‐word reading, and rhyme judgment were taken at Phase 2. Phase 3 measures, 14 months after the start of the study, comprised single‐word reading and spelling. At Phase 4, some 22 months after the beginning of the study, measures of reading and spelling ability were assessed again. Results. Individual subtests of the DEST were more predictive of later literacy skills than the global screening test's score (the ‘at risk quotient’). Better predictors were the DEST subtest of sound order and rapid automatized naming, together with the school attainment measure of letter knowledge. Conclusions. Although some DEST subtests did offer predictors of future literacy skills, school‐based measures of letter knowledge may be equally valid as assessment measures. Additionally, the results question the usefulness of combining measures to form an ‘at risk’ index of future literacy difficulties, particularly in the age range assessed.     

发展性阅读障碍亚类型研究进展

发展性阅读障碍是一种特殊的学习障碍,伴有多种认知缺陷并且存在不同的亚类型。依据相关的阅读模型理论,阅读障碍可划分为语音型和表层型。从认知缺陷角度出发,语音加工缺陷是主要的缺陷表现,以此为特征形成一种主要的阅读障碍的亚类型,同时还有以正字法加工缺陷和快速命名缺陷为主的其他亚类型。而以基本感知觉缺陷为标准,主要有以视觉加工缺陷和以听觉加工缺陷为主的两种亚类型。在汉语条件下,依据同样的阅读模型理论,语音型阅读障碍亚类型比例明显低于拼音文字条件下的。汉语阅读障碍也具有分别以语音加工缺陷、快速命名缺陷和正字法加工缺陷为主要认知缺陷的亚类型。未来有必要从神经机制角度进一步明确不同亚类型的神经基础。     

Home literacy activities and their influence on early literacy skills.

The relationship between the home environments of 66 children and their language and literacy development was examined. After accounting for child age, parent education, and child ability as indexed by scores on a rapid automatized naming task and Block Design of the WPPSI-R, shared book reading at home made no contribution to the prediction of the literacy skills of letter name and letter sound knowledge in kindergarten. In contrast, home activities involving letters predicted modest and statistically significant amounts of variance. For the areas of receptive vocabulary and phonological sensitivity, neither shared book reading nor letter activities were predictive. Follow-up to mid-Grade 2 underscored the importance of letter name/sound knowledge and phonological sensitivity in kindergarten in accounting for individual differences in later achievement in reading comprehension, phonological spelling, and conventional spelling.     

Phonological awareness and language intervention in preschoolers from low socio‐economic backgrounds: A longitudinal investigation

This study examines the literacy outcomes for children from socially disadvantaged backgrounds who had received specific whole‐class phonological awareness (PA) and language intervention in preschool. The participants were 57 children who had been involved in the original intervention study. Their PA skills, letter‐sound knowledge, real word and non‐word spelling and reading comprehension were assessed in Grade 2. The results indicated that children who had received intervention in preschool performed similarly to the children who had not received intervention. The gains made in PA and language skills post intervention had failed to augment further literacy development. A post hoc examination of individual student profiles, however, revealed that a subgroup of children who had received intervention had maintained their enhanced performance and that the intervention cohort had similar scores on tests of PA ability to their age‐matched peers in the population. It was concluded that whole‐class, teacher‐delivered, PA and language intervention, while effective in the short term, does not lead to a generalized improvement in literacy skills in Grade 2. Possible reasons for the failure of the program to produce medium term gains are discussed.     

Delayed development of phonological constancy in toddlers at family risk for dyslexia

Phonological constancy refers to infants’ ability to disregard variations in the phonetic realisation of speech sounds that do not indicate lexical contrast, e.g., when listening to accented speech. In typically-developing infants, this ability develops between 15- and 19-months of age, coinciding with the consolidation of infants’ native phonological competence and vocabulary growth. Here we investigated the developmental time course of phonological constancy in infants at family risk for developmental dyslexia, using a longitudinal design. Developmental dyslexia is a disorder affecting the acquisition of reading and spelling skills, and it also affects early auditory processing, speech perception, and lexical acquisition. Infants at-risk and not at-risk for dyslexia, based on a family history of dyslexia, participated when they were 15-, 19-, and 26-months of age. Phonological constancy was indexed by comparing at-risk and not at-risk infants’ ability to recognise familiar words in two preferential looking tasks: (1) a task using words presented in their native accent, and (2) a task using words presented in a non-native accent. We expected a delay in phonological constancy for the at-risk infants. As predicted, in the non-native accent task, not at-risk infants recognised familiar words by 19 months, but at-risk infants did not. The control infants thus exhibited phonological constancy. By 26 months, at-risk toddlers did show successful word recognition in the native accent task. However, for the non-native accent task at 26 months, neither at-risk nor control infants showed familiar word recognition. These findings are discussed in terms of the impact of family risk for dyslexia on toddlers’ consolidation of early phonological and lexical skills.