The Association of Dyslexia and Developmental Speech and Language Disorder Candidate Genes with Reading and Language Abilities in Adults

AbstractReading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.

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Nonword Repetition Performance Differentiates Children Who Stutter With and Without Concomitant Speech Sound and Developmental Language Disorders

Journal of Speech Language and Hearing Research ◽

10.1044/2021_jslhr-21-00334 ◽

2022 ◽

pp. 1-13

Author(s):

Katelyn L. Gerwin ◽

Bridget Walsh ◽

Seth E. Tichenor

Keyword(s):

Sound Production ◽

Language Disorder ◽

Speech Sound ◽

Language Disorders ◽

Nonword Repetition ◽

Driving Factor ◽

Speech And Language ◽

Speech Sound Disorder ◽

Language Abilities ◽

Speech And Language Disorders

Purpose: The aim of this study was to examine how nonword repetition (NWR) performance may be impacted by the presence of concomitant speech and language disorders in young children who stutter (CWS). Method: One hundred forty-one children (88 CWS and 53 children who do not stutter [CWNS]) participated. CWS were divided into groups based on the presence of speech sound and/or language disorder or typical speech sound production and language abilities. NWR abilities were measured using stimuli composed of one- to four-syllable nonwords. Results: CWS with typical speech and language and CWNS had higher accuracy scores than CWS with concomitant speech and language disorders. We found no difference in accuracy scores between CWNS and CWS with typical speech and language abilities, nor did we find differences between CWS with speech sound disorder and CWS with both speech sound and language disorders. Accuracy decreased as nonword length increased for all groups. Conclusions: We found that the presence of a concomitant speech and language disorder was a driving factor behind poorer NWR performance in CWS. Accuracy scores differentiated CWS with concomitant disorders from CWS with typical speech and language but not CWS with typical speech and language from CWNS. Considering the speech and language abilities of CWS helped clarify poorer NWR performance and enhances generalizability to the population that exists clinically.

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Genomics of Speech and Language Disorders

10.20944/preprints201809.0492.v1 ◽

2018 ◽

Author(s):

Joaquin Guerra ◽

Ramon Cacabelos

Keyword(s):

Molecular Mechanisms ◽

De Novo ◽

Language Disorder ◽

Speech Sound ◽

Language Disorders ◽

Communication Disorders ◽

Autism Spectrum ◽

Speech Disorders ◽

Speech And Language ◽

Co Morbidity

There are multiple factors involved in speech and language. Investigating animal models, mainly through songbirds, have allowed a better understanding of the language process. Verbal dyspraxia, dysarthria, speech sound disorder, and stuttering are some examples of speech disorders, and specific language disorder, aphasia and, dyslexia of language disorders. More complex syndromes such as Autism-spectrum disorders, Down’s or Fragile X have more variable features. Genetic factors, such as hereditary or de novo mutations may be responsible for their development. In addition, most of them are involved in neurodevelopment with a huge range of molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or develop phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially miRNAs, influence their expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also those neurological alterations that incorporate these mutations.

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Understanding children with language problems. Shula Chiat. Cambridge: Cambridge University Press, 2000. Pp. 286.

Applied Psycholinguistics ◽

10.1017/s0142716401234080 ◽

2001 ◽

Vol 22 (4) ◽

pp. 647-650

Author(s):

Stacy Silverman

Keyword(s):

Language Processing ◽

Language Disorder ◽

Processing System ◽

Language Disorders ◽

Phonological Development ◽

Language Abilities ◽

Senior Lecturer ◽

Problem Solve ◽

The Impact

Examining the language abilities of children with language disorders should be a deductive process, using much more than the data that formal measures provide. The assessment should be a systematic, psycholinguistic exploration of aspects of a child's input and output, with a focus on the attempt to pinpoint specific areas of deficit within the language-processing system. Chiat, in this insightful and extremely accessible book, provides basic profiles of children with language disorders, along with case study examples, that both illustrate various forms of language disorder and demonstrate the use of tasks, commonly applied in psycholinguistic research, to problem-solve specific cases. Chiat is a senior lecturer in Linguistics at City University, London, where she is an established researcher who focuses primarily on phonological development and disorders and the impact of impaired phonology on lexical/semantic development.

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Language Pathology

Annual Review of Applied Linguistics ◽

10.1017/s0267190500001197 ◽

1989 ◽

Vol 10 ◽

pp. 26-36

Author(s):

Paul Fletcher

Keyword(s):

Language Disorder ◽

Language Disorders ◽

Speech And Language ◽

Broad Term ◽

Disciplinary Field ◽

Language Pathology ◽

Speech Science ◽

Speech And Language Disorders ◽

And Linguistics

Language pathology is a broad term, used to refer to the symptoms of speech and language speech and language disorders, the aetiologies of these disorders, and the methods and results of the disciplines which study them. The major disciplines involved are medicine, psychology, and linguistics (including speech science). It is neither possible nore desirable, in an inter-disciplinary field, to ignore the contribution of other sciences. Here, however, the concentration will be, so far as is feasible, on the distincitve role of linguistics in the investigation of language disorders. The term language disorder is used as a general label for any persistent non-normal linguistic behaivor in children or adults.

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Using Nonword Repetition to Identify Developmental Language Disorder in Monolingual and Bilingual Children: A Systematic Review and Meta-Analysis

Journal of Speech Language and Hearing Research ◽

10.1044/2021_jslhr-20-00552 ◽

2021 ◽

pp. 1-16

Author(s):

Salomé Schwob ◽

Laurane Eddé ◽

Laure Jacquin ◽

Mégane Leboulanger ◽

Margot Picard ◽

...

Keyword(s):

Systematic Review ◽

Effect Size ◽

Language Disorder ◽

Meta Analysis ◽

Diagnostic Value ◽

Nonword Repetition ◽

Bilingual Children ◽

Developmental Language Disorder ◽

Language Therapy ◽

Language Background

Purpose A wealth of studies has assessed the diagnostic value of the nonword repetition task (NWRT) for the detection of developmental language disorder (DLD) in the clinical context of speech and language therapy, first in monolingual children and, more recently, in bilingual children. This review article reviews this literature systematically and conducts a meta-analysis on the discriminative power of this type of task in both populations. Method Three databases were used to select articles based on keyword combinations, which were then reviewed for relevance and methodological rigor based on internationally recognized checklists. From an initial pool of 488 studies, 46 studies were selected for inclusion in the systematic review, and 35 of these studies could be included in a meta-analysis. Results Most of the articles report significant discrimination between children with and without DLD in both monolingual and bilingual contexts, and the meta-analysis shows a large mean effect size. Three factors (age of the child, linguistic status, and language specificity of the task) yielded enough quantitative data for further exploration. Subgroups analysis shows variance in effect sizes, but none of the three factors, neither their interactions, were significant in a metaregression. We discuss how other, less explored factors (e.g., nature of the stimuli, scoring methods) could also contribute to differences in results. Sensitivity and specificity analyses reported in 33 studies confirmed that, despite possible effect size differences, the diagnostic accuracy of the NWRT is generally near thresholds considered to be discriminatory. It generally increases when it is combined with other tasks (e.g., parental questionnaire). Conclusions This review indicates that the NWRT is a promising diagnostic tool to identify children with DLD in monolingual and bilingual contexts with a large mean effect size. However, it seems necessary to choose the precise NWRT materials based on the children's language background and to complement the assessment sessions with other tools in order to ensure diagnosis and to obtain complete language profile of the child. Supplemental Material https://doi.org/10.23641/asha.15152370

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Population Health in Pediatric Speech and Language Disorders: Available Data Sources and a Research Agenda for the Field

Journal of Speech Language and Hearing Research ◽

10.1044/2018_jslhr-l-16-0459 ◽

2018 ◽

Vol 61 (5) ◽

pp. 1279-1291 ◽

Cited By ~ 6

Author(s):

Ramesh Raghavan ◽

Stephen Camarata ◽

Karl White ◽

William Barbaresi ◽

Susan Parish ◽

...

Keyword(s):

Research Agenda ◽

Language Disorder ◽

Language Disorders ◽

Population Level ◽

Data Sources ◽

Speech And Language ◽

National Surveys ◽

Population Science ◽

Speech And Language Disorders ◽

Incidence Prevalence

Purpose The aim of the study was to provide an overview of population science as applied to speech and language disorders, illustrate data sources, and advance a research agenda on the epidemiology of these conditions. Method Computer-aided database searches were performed to identify key national surveys and other sources of data necessary to establish the incidence, prevalence, and course and outcome of speech and language disorders. This article also summarizes a research agenda that could enhance our understanding of the epidemiology of these disorders. Results Although the data yielded estimates of prevalence and incidence for speech and language disorders, existing sources of data are inadequate to establish reliable rates of incidence, prevalence, and outcomes for speech and language disorders at the population level. Conclusions Greater support for inclusion of speech and language disorder–relevant questions is necessary in national health surveys to build the population science in the field.

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Specialist provision for language disorder: Staff and service user views of a preschool language unit

Child Language Teaching and Therapy ◽

10.1177/0265659019849455 ◽

2019 ◽

Vol 35 (2) ◽

pp. 93-111

Author(s):

Hannah Harvey ◽

Sarah Spencer

Keyword(s):

Service User ◽

Language Disorder ◽

Language Disorders ◽

Teaching Staff ◽

Speech And Language ◽

Language Therapy ◽

Framework Analysis ◽

Speech And Language Therapy ◽

Preschool Language ◽

Parent Questionnaires

Language units are specialist educational settings that provide integrated speech and language therapy and curriculum delivery for children with severe language disorders within mainstream schools. This study presents an account of a preschool language unit (PLU) from the perspectives of children with language disorders currently in attendance, their parents, and teaching staff. Six child-led, multi-modal interviews, six parent questionnaires, and interviews with three members of staff were analysed using Framework Analysis (Ritchie et al., 2003). Results showed that staff and parents perceive that attending the PLU positively impacts the children, but raised concerns that accessing PLUs can be difficult due to number restrictions. Children valued play and friendships within the PLU, while parents valued the PLU’s role in supporting communication and socialization. This study offers a unique account of how a PLU supports children with language disorders from the perspectives of children, parents and staff.

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The Influence of Speech and Language Disorders on the Effectiveness of Rehabilitation of Individuals who Suffered Stroke

Reabilitacijos mokslai slauga kineziterapija ergoterapija ◽

10.33607/rmske.v2i13.695 ◽

2019 ◽

Vol 2 (13) ◽

Author(s):

Lina Varžaitytė ◽

Raimondas Savickas ◽

Liepa Šiupinienė ◽

Vilija Varanienė

Keyword(s):

Language Disorder ◽

Early Period ◽

Language Disorders ◽

Inpatient Rehabilitation ◽

Functional Independence ◽

Speech Disorders ◽

Speech And Language ◽

Stroke Patients ◽

The Difference ◽

Speech And Language Disorders

Background. The speech and language disorders for stroke patients are associate with bigger morbidity, mortality, hypofunction, but the literature fndings are controversial. The aim of the study is to analyse the inﬂuence of speech and language disorders on the effectiveness of rehabilitation of individuals who suffered stroke. Subjects and methods. The study involved 64 individuals with stroke who were treated at LUHSH KK Neurorehabilitation subdivision during the years 2008 and 2010. In this analysis a retrospective data from hospital medical records forms was used. The effectiveness of rehabilitation was assessed by a change of results of functional independence measurement (FIM) and mini-mental state examination (MMSE) tests during rehabilitation. The factors that may inﬂuence the effectiveness of rehabilitation (age, gender, type of speech and language disorder) were analysed. Results. The analysis revealed that rehabilitation was effective and effcient for individuals who suffered stroke both in the right and the left side, and the difference was not statistically signifcant. The FIM results of individuals with speech disorders before rehabilitation were worse, comparing to those who had speech and language disorder. The difference was statistically significant (p = 0.004). But after rehabilitation, although the FIM results of subjects with speech impairments remained lower, the difference was not statistically signifcant (p = 0.367). The difference between FIM results after rehabilitation among separate aphasia groups was not statistically signifcant. But there was a statistically signifcant difference, comparing MMSE results before and after rehabilitation (p = 0.02). Conclusions. The inpatient rehabilitation was effective for stroke patients. The age and gender did not have statistically signifcant inﬂuence. The speech and language disorders did not have statistically signifcant inﬂuence to recovery of cognitive dysfunction for stroke patients in the early period of rehabilitation.Keywords: stroke, speech and language disorder, rehabilitation.

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Genomics of Speech and Language Disorders

10.20944/preprints201809.0492.v2 ◽

2018 ◽

Cited By ~ 1

Author(s):

Joaquin Guerra ◽

Ramón Cacabelos

Keyword(s):

Molecular Mechanisms ◽

De Novo ◽

Language Disorder ◽

Speech Sound ◽

Language Disorders ◽

Communication Disorders ◽

Autism Spectrum ◽

Speech Disorders ◽

Speech And Language ◽

Co Morbidity

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SPEECH AND LANGUAGE DISORDERS IN PRESCHOOL CHILDREN: A PREVENTIVE APPROACH

PEDIATRICS ◽

10.1542/peds.36.4.637 ◽

1965 ◽

Vol 36 (4) ◽

pp. 637-647

Author(s):

Gertrud L. Wyatt

Keyword(s):

Language Development ◽

Language Learning ◽

Language Disorder ◽

Language Disorders ◽

Social Adaptation ◽

Speech And Language ◽

Biological Time ◽

Rapid Acquisition ◽

Early School ◽

Speech And Language Disorders

From 4 to 9% of elementary school children with normal to superior intelligence exhibit symptoms of developmental speech and language disorders, such as: stuttering (or stammering);* severely defective articulation in the absence of hearing loss; and finally the syndrome of multiple perceptual, motor, and language disorder. These developmental deviations or disorders interfere markedly with early school adaptation. If no adequate help is forthcoming the symptoms may increase in severity and interfere with the achievement and social adaptation of the children concerned. The sex ratio reported has been, as a rule, 75% boys to 25% girls. The importance of the preschool years for language development has been established in many studies.1, 2 McCarthy referred to the "amazingly rapid acquisition of an extremely complex system of symbolic habits by young children,"1 while Penfield and Roberts3 mentioned the "biological time table for language learning," and assumed that the most intensive learning occurs between 2 and 4 years of age. Studies in language development carried out earlier in the century were mostly normative, focusing upon the number of different sounds and words mastered by the majority of children at a given age1, 4, 5 Thus we expect the "average" child to begin using his first words between 10 and 18 months of age, to master approximately 300 words at age 2, and approximately 1,000 words at age 3. In a more recent study, Templin compared her findings concerning children's learning of consonant sounds with those of other investigators.6 The pediatrician, trying to evaluate a child's stage of language development may want to know what specific sounds a child should be able to master at what particular age.

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