Kielellinen erityisvaikeus : oirekuva ja familiaalisuus potilasasiakirjojen perusteella

Goals. Specific language impairment (SLI) has a negative impact on child s speech and language development and interaction. Disorder may be associated with a wide range of comorbid problems. In clinical speech therapy it is important to see the child as a whole so that the rehabilitation can be targeted properly. The aim of this study was to describe the linguistic-cognitive and comorbid symptoms of children with SLI at the age of five, as well as to provide an overwiew of the developmental disorders in the families. The study is part of a larger research project, which will examine paths of development and quality of life of children with SLI as young adults. Methods. The data consisted of patient documents of 100 5-year old children, who were examined in Lastenlinna mainly at 1998. Majority of the subjects were boys, and children s primary diagnosis was either F80.1 or F80.2, which was most common, or both. The diagnosis and the information about the linguistic-cognitive status and comorbid symptoms were collected from reports of medical doctors and experts of other fields, as well as mentions related to familiality. Linguistic-cognitive symptoms were divided into subclasses of speech motor functions, prosessing of language, comprehension of language and use of language. Comorbid symptoms were divided into subclasses of interaction, activity and attention, emotional and behavior problems and neurologic problems. Statistical analyses were based mainly on Pearson s Chi Square test. Results and conclusions. Problems in language processing and speech motor functions were most common of the linguistic-cognitive symptoms. Most of the children had symptoms from two or three symptom classes, and it seemed that girls had more symptoms than boys. Usually children did not have any comorbid symptoms, or had them from one or three symptom classes. Of the comorbid symptoms the most prevalent ones were problems in activity and attention and neurological symptoms, which consisted mostly of motoric and visuomotoric symptoms. The most common of the comorbid diagnoses was F82, specific developmental disorder of motor function. According to literature children with SLI may have problems in mental health, but the results of this study did not confirm that. Children with diagnosis F80.2 had more linguistic-cognitive and comorbid symptoms than children with diagnosis F80.1. The cluster analyses based on all the symtoms revealed four subgroups of the subjects. Of the subjects 85 percent had a positive family history of developmental disorders, and the most prevalent problem in the families was delayed speech development. This study outlined the symptom profile of children with SLI and laid a foundation for the future longitudinal study. The results suggested that there are differences between linguistic-cognitive symptoms of boys and girls, which is important to notice especially when assessing and diagnosing children with SLI.

Motor deficits in children with autism spectrum disorder: A cross-syndrome study

Recent research suggests that children with autism spectrum disorder (ASD) experience some level of motor difficulty, and that this may be associated with social communication skills. However, other studies show that children with language impairments, but without the social communication problems, are at risk of motor difficulties as well. The aim of the present study was to determine if children with ASD have syndrome specific motor deficits in comparison to children with specific language impairment (SLI). We used an independent groups design with three groups of children (8-10 years old) matched on age and nonverbal IQ; an ASD group, an SLI group, and a typically developing (TD) group. All of the children completed an individually administered, standardized motor assessment battery. We found that the TD group demonstrated significantly better motor skills than either the ASD or SLI groups. Detailed analyses of the motor subtests revealed that the ASD and SLI groups had very similar motor profiles across a range of fine and gross motor skills, with one exception. We conclude that children with ASD, and SLI, are at risk of clinically significant motor deficits. However, future behavioural and neurological studies of motor skills in children with ASD should include an SLI comparison group in order to identify possible autism specific deficits.

De la difficulté des enfants dysphasiques à décoder des émotions de base : éclairages sur un syndrome méconnu

On évoque souvent des difficultés à interagir socialement chez les enfants ayant une dysphasie. Ces difficultés sont généralement attribuées aux troubles du langage, mais elles pourraient aussi provenir d’un problème à décoder les émotions des autres. Le but de la présente recherche est d’explorer cette voie chez les enfants dysphasiques de 9 à 12 ans. Différents stimuli émotionnels leur ont été présentés sous forme de vidéos ainsi qu’à des enfants d’un groupe contrôle selon cinq conditions : parole non filtrée, parole filtrée, visage dynamique, visage dynamique accompagné de la parole non filtrée, et visage dynamique avec parole filtrée. Les enfants dysphasiques et les enfants du groupe contrôle ne se comportent pas différemment de manière significative en fonction des émotions présentées et des conditions testées. Par contre, un sous-groupe d’enfants ayant une dysphasie mixte commet significativement plus d’erreurs pour l’ensemble de la tâche que le sous-groupe d’enfants sans dysphasie de même âge chronologique. En fait une part seulement des enfants dysphasiques mixtes ont des scores plus faibles. Ces mêmes enfants présentent un QI non verbal faible tandis que leur compréhension du langage est équivalente à celle de leur sous-groupe (enfants dysphasiques mixtes). Malgré ces différences significatives, les scores des enfants dysphasiques mixtes restent relativement élevés et les difficultés observées sont subtiles. Sur le plan clinique, les praticiens (orthophonistes, psychologues, éducateur) devront systématiser l’évaluation des habiletés de décodage des émotions chez l’enfant dysphasique dont les difficultés ne sont pas forcément évidentes dans la vie quotidienne. La recherche devra développer un outil de dépistage sensible aux troubles de décodage émotionnel et des stratégies thérapeutiques adaptées.

Production and processing asymmetries in the acquisition of tense morphology by sequential bilingual children

This study investigates the production and on-line processing of English tense morphemes by sequential bilingual (L2) Turkish-speaking children with more than three years of exposure to English. Thirty nine 6-9-year-old L2 children and 28 typically developing age-matched monolingual (L1) children were administered the production component for third person –s and past tense of the Test for Early Grammatical Impairment (Rice & Wexler, 1996) and participated in an on-line word-monitoring task involving grammatical and ungrammatical sentences with presence/omission of tense (third person –s, past tense -ed) and non-tense (progressive –ing, possessive ‘s) morphemes. The L2 children’s performance on the on-line task was compared to that of children with Specific Language Impairment (SLI) in Montgomery & Leonard (1998, 2006) to ascertain similarities and differences between the two populations. Results showed that the L2 children were sensitive to the ungrammaticality induced by the omission of tense morphemes, despite variable production. This reinforces the claim about intact underlying syntactic representations in child L2 acquisition despite non target-like production (Haznedar & Schwartz, 1997).

Desempenho escolar de crianças com Distúrbio Específico de Linguagem: relações com habilidades metafonológicas e memória de curto prazo

OBJETIVO: Descrever o desempenho de crianças com Distúrbio Específico de Linguagem (DEL) em provas de leitura, escrita, aritmética, consciência fonológica e memória seqüencial auditiva, assim como, verificar se há associação positiva entre as provas que avaliam a aprendizagem escolar e as que avaliam o processamento da informação. MÉTODOS: Vinte sujeitos com diagnóstico de DEL, com idades entre 7 e 12 anos, foram submetidos ao Teste de Desempenho Escolar (TDE) e a duas provas, que avaliam o processamento da informação (Perfil de Habilidades Fonológicas e Subteste de Memória Seqüencial Auditiva do Teste de Illinois de Habilidades Psicolingüísticas - ITPA). RESULTADOS: A maioria apresentou alteração em todas as provas realizadas. As associações entre o desempenho do grupo nas diferentes provas demonstram que a habilidade metafonológica apresentou associação estatisticamente significante com as habilidades de leitura (p=0,02) e escrita (p=0,02). Por sua vez, a habilidade de memória seqüencial auditiva apresentou associação estatisticamente significante apenas com a habilidade de aritmética (p=0,0003). CONCLUSÃO: O desempenho escolar, assim como as habilidades de consciência fonológica e memória de curto prazo mostraram-se defasados na maioria dos sujeitos avaliados, havendo associação positiva entre: a prova de memória de curto prazo e a prova de aritmética; a prova de consciência fonológica e as provas de leitura e escrita. Neste contexto, reforça-se aqui a utilização de programas de intervenção baseados em Modelos Psicolingüísticos, que sugerem o uso de estratégias individuais para o desenvolvimento das habilidades metafonológicas.

Diagnóstico de crianças com alterações específicas de linguagem por meio de escala de desenvolvimento

Alterações específicas do desenvolvimento da linguagem (AEDL) devem ser identificadas precocemente, pois tais alterações podem interferir nos aspectos sociais e escolares da criança. O objetivo dessa pesquisa foi verificar o desempenho de crianças com diagnóstico de AEDL, em comparação com o de crianças normais, por meio da Escala de Desenvolvimento Comportamental de Gesell e Amatruda (EDCGA). Foram selecionadas 25 crianças de 3 a 6 anos com o diagnóstico de AEDL (grupo estudado - GE) e 50 crianças normais da mesma faixa etária (grupo controle - GC). As crianças do GC apresentaram desempenho satisfatório e melhor que as crianças do GE, em todos os campos da escala. O valor da mediana do GE foi limítrofe nos comportamentos adaptativo e social-pessoal, já no de linguagem foi discrepantemente rebaixado. Concluímos que as alterações de linguagem interferiram na avaliação dos outros campos do desenvolvimento (adaptativo e pessoal-social). Apesar da interferência, a escala pode ser instrumento útil no diagnóstico de AEDL.

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering

A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls. This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering. Using an expanded subject data set, we again found that NAGPA showed significantly different mutation frequencies in North Americans of European descent (p = 0.0091) and a significant difference existed in the mutation frequency of GNPTAB in Brazilians (p = 0.00050). No significant differences in mutation frequency in the FOXP2 and CNTNAP2 genes were observed between cases and controls. To examine the pattern of expression of these five genes in the human brain, real time quantitative reverse transcription PCR was performed on RNA purified from 27 different human brain regions. The expression patterns of FOXP2 and CNTNAP2 were generally different from those of GNPTAB, GNPTG and NAPGA in terms of relatively lower expression in the cerebellum. This study provides an improved estimate of the contribution of mutations in GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI. Published by Elsevier Inc.

Habilidades de processamento fonológico e de escrita em crianças com distúrbio específico de linguagem: um estudo comparativo com a normalidade

Introdução: Crianças com distúrbio específico de linguagem (DEL) são propensas a apresentar dificuldade no processo de alfabetização devido às múltiplas alterações de linguagem que possuem. Este estudo comparou e caracterizou o desempenho de crianças com DEL e em desenvolvimento típico de linguagem em atividades de aliteração, rima, memória de curto prazo fonológica, ditado de palavras e de pseudopalavras. A principal hipótese do estudo era de que o grupo DEL apresentaria desempenho inferior do que o grupo em desenvolvimento típico em todas as habilidades estudadas. Método: Participaram do estudo 12 crianças com DEL (GP) e 48 em desenvolvimento típico (GC) com idade entre 7 anos e 9 anos e 11 meses. Todos os sujeitos cursavam o 2º ou 3º ano do ensino fundamental I e apresentavam audição e rendimento intelectual não-verbal preservados. Para a seleção dos grupos foram utilizadas medidas de vocabulário receptivo, fonologia e nível socioeconômico. Já as medidas experimentais avaliadas foram testes padronizados de aliteração, rima, memória de curto prazo fonológica e a aplicação de um ditado de palavras e de pseudopalavras elaborados para esta pesquisa. Resultados: ambos os grupos apresentaram pior desempenho em tarefas de rima do que de aliteração e o GP apresentou desempenho inferior em ambas as tarefas quando comparado ao GC. A análise dos distratores nas atividades de aliteração e rima apontou que em tarefas de aliteração, o GP cometeu mais erros de tipologia semântico enquanto na prova de rima foram mais erros de tipologia fonológico. O GP obteve desempenho inferior ao GC nas avaliações da memória de curto prazo fonológica, ditado de palavras e de pseudopalavras. O GP evidenciou maior dificuldade no ditado de pseudopalavras no que no de palavras e o GC não apresentou diferença significativa no desempenho dos ditados. No ditado de palavras, o GP cometeu mais erros na palavra toda enquanto no ditado de pseudopalavras ocorreram mais erros na palavra toda e na sílaba final. Na comparação do desempenho dos grupos de acordo com a escolaridade, notou-se que os sujeitos do GC do 2º e 3º ano não evidenciaram diferença significativa em seu desempenho nas tarefas, enquanto os sujeitos do GP do 3º ano apresentaram melhor desempenho do que os do 2º ano em todas as medidas experimentais, com exceção da memória de curto prazo fonológica. Conclusões: o GP apresentou dificuldade em tarefas de processamento fonológico e de escrita que foram realizadas com relativa facilidade pelo GC. Os sujeitos com DEL evidenciaram uma análise mais global dos estímulos apresentados nas tarefas de consciência fonológica, o que os fez desprezar aspectos segmentais importantes. A dificuldade em abordar as informações de modo analítico, somado a alterações linguísticas e do processamento fonológico, levou o GP a apresentar maior taxa de erros nas tarefas de ditado. Apesar das alterações apontadas, os sujeitos do GP do 3º ano obtiveram melhor desempenho do que os do 2º ano em todas as habilidades com exceção da memória de curto prazo fonológica, que é sua marca clínica. Estes dados reforçam a necessidade do diagnóstico e intervenção precoces para esta população, onde as habilidades abordadas neste estudo devem ser incluídas no processo terapêutico

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. We tested a panel of dyslexia and SLI genetic risk factors for association with two measures of general cognitive abilities, or IQ, (verbal and non-verbal) in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (N>5,000). Only the MRPL19/C2ORF3 locus showed statistically significant association (minimum P = 0.00009) which was further supported by independent replications following analysis in four other cohorts. In addition, a fifth independent sample showed association between the MRPL19/C2ORF3 locus and white matter structure in the posterior part of the corpus callosum and cingulum, connecting large parts of the cortex in the parietal, occipital and temporal lobes. These findings suggest that this locus, originally identified as being associated with dyslexia, is likely to harbour genetic variants associated with general cognitive abilities by influencing white matter structure in localised neuronal regions.

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects

Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case–control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families.

Passive verb morphology: the effect of phonotactics on passive comprehension in typically developing and grammatical-SLI children

In this study we explore the impact of a morphological deficit on syntactic comprehension. A self-paced listening task was designed to investigate passive sentence processing in typically developing (TD) children and children with Grammatical-Specific Language Impairment (G-SLI). Participants had to judge whether the sentence they heard matched a picture they were shown. Working within the framework of the Computational Grammatical Complexity Hypothesis, which stresses how different components of the grammar interact, we tested whether children were able to use phonotactic cues to parse reversible passive sentences of the form the X was verbed by Y We predicted that TD children would be able to use phonotactics to parse a form like touched or hugged as a participle, and hence interpret passive sentences correctly. This cue is predicted not be used by G-SLI children, because they have difficulty building complex morphological representations. We demonstrate that indeed TD, but not G-SLI, children are able to use phonotactics cues in parsing passive sentences. (C) 2006 Elsevier B.V. All rights reserved.

Sentence repetition in adolescents with specific language impairments and autism: an investigation of complex syntax

Background: Recent studies have indicated that many children with autism spectrum disorders present with language difficulties that are similar to those of children with specific language impairments, leading some to argue for similar structural deficits in these two disorders. Aims: Repetition of sentences involving long-distance dependencies was used to investigate complex syntax in these groups. Methods & Procedures: Adolescents with specific language impairments (mean age = 15;3, n = 14) and autism spectrum disorders plus language impairment (autism plus language impairment; mean age = 14;8, n = 16) were recruited alongside typically developing adolescents (mean age = 14;4, n = 17). They were required to repeat sentences containing relative clauses that varied in syntactic complexity. Outcomes & Results: The adolescents with specific language impairments presented with greater syntactic difficulties than the adolescents with autism plus language impairment, as manifested by higher error rates on the more complex object relative clauses, and a greater tendency to make syntactic changes during repetition. Conclusions & Implications: Adolescents with specific language impairments may have more severe syntactic difficulties than adolescents with autism plus language impairment, possibly due to their short-term memory limitations.

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Writing Motivation of Students with Specific Language Impairments

This study was designed to compare the writing motivation of students with specific language impairments with their non-disabled peers. Due to the cognitive and linguistic demands of the writing process, students with language impairments face unique difficulties during the writing process. It was hypothesized that students with specific language impairments will be more likely to report lower levels of perceived writing competence and be less autonomously motivated to write. Students in grades 3-5 in 11 schools (33 with specific language impairments, 242 non-disabled peers) completed self-report measures, designed from a Self-Determination Theory perspective, which measured the degree that students are intrinsically motivated to write as well as their perceived writing competence. Statistical analyses showed that (1) students with specific language impairments reported lower levels of perceived writing competence and autonomous writing motivation; (2) SLI status was a significant predictor of perceived writing competence after spelling, grade, and gender were controlled; and (3) when spelling, grade, and gender were controlled, perceived writing competence was a significant predictor of autonomous writing motivation, but SLI status was not. The results of this study are expected to inform the current understanding of the relationship between language ability and writing motivation in students with specific language impairments, as well as the design of future writing interventions.

Perception of Filtered Speech by Children with Developmental Dyslexia and Children with Specific Language Impairments

Here we use two filtered speech tasks to investigate children’s processing of slow (<4 Hz) versus faster (∼33 Hz) temporal modulations in speech. We compare groups of children with either developmental dyslexia (Experiment 1) or speech and language impairments (SLIs, Experiment 2) to groups of typically-developing (TD) children age-matched to each disorder group. Ten nursery rhymes were filtered so that their modulation frequencies were either low-pass filtered (<4 Hz) or band-pass filtered (22 – 40 Hz). Recognition of the filtered nursery rhymes was tested in a picture recognition multiple choice paradigm. Children with dyslexia aged 10 years showed equivalent recognition overall to TD controls for both the low-pass and band-pass filtered stimuli, but showed significantly impaired acoustic learning during the experiment from low-pass filtered targets. Children with oral SLIs aged 9 years showed significantly poorer recognition of band pass filtered targets compared to their TD controls, and showed comparable acoustic learning effects to TD children during the experiment. The SLI samples were also divided into children with and without phonological difficulties. The children with both SLI and phonological difficulties were impaired in recognizing both kinds of filtered speech. These data are suggestive of impaired temporal sampling of the speech signal at different modulation rates by children with different kinds of developmental language disorder. Both SLI and dyslexic samples showed impaired discrimination of amplitude rise times. Implications of these findings for a temporal sampling framework for understanding developmental language disorders are discussed.