Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Peer Support: An Intervention To Facilitate Second Language Acquisition In Students With Asperger Syndrome And Primary Language Deficits

This is a study of a peer support program to aid students in secondary school struggling to learn a second language (for college entrance requirements) who have Asperger Syndrone and primary language deficits.

Argument structure and specific language impairment: retrospect and prospect

This article reflects a collaboration between the Universities of Groningen and Reading of which Frans Zwarts was the promoter. One of the outcomes was a close attention to the learning of various aspects of argument structure by children with specific language impairment (SLI) in Dutch and English. At that time and since, the focus on deficits in grammatical morphology in these children has left verb complementation as something of a syntactic Cinderella. Here we review the findings from our studies in the 1990s. We confirm that children with SLI in both languages have problems with verb specificity, with argument structure alternations and with resultative verb predicates. The very limited number of subsequent studies on verb syntax appear to support our findings. We conclude that this is an area which will repay further scrutiny – it is high time argument structure received an invitation to the ball.

Investigating relative clauses in children with specific language impairment

Background: It is well documented that children with Specific Language Impairment (SLI) experience significant grammatical deficits. While much of the focus in the past has been on their morphosyntactic difficulties, less is known about their acquisition of complex syntactic structures such as relative clauses. The role of memory in language performance has also become increasingly prominent in the literature. Aims: This study aims to investigate the control of an important complex syntactic structure, the relative clause, by school age children with SLI in Ireland, using a newly devised sentence recall task. It also aims to explore the role of verbal and short-termworking memory in the performance of children with SLI on the sentence recall task, using a standardized battery of tests based on Baddeley’s model of working memory. Methods and Procedures: Thirty two children with SLI, thirty two age matched typically developing children (AM-TD) between the ages of 6 and 7,11 years and twenty younger typically developing (YTD) children between 4,7 and 5 years, completed the task. The sentence recall (SR) task included 52 complex sentences and 17 fillers. It included relative clauses that are used in natural discourse and that reflect a developmental hierarchy. The relative clauses were also controlled for length and varied in syntactic complexity, representing the full range of syntactic roles. There were seven different relative clause types attached to either the predicate nominal of a copular clause (Pn), or to the direct object of a transitive clause (Do). Responses were recorded, transcribed and entered into a database for analysis. TheWorkingMemory Test Battery for children (WMTB-C—Pickering & Gathercole, 2001) was administered in order to explore the role of short-term memory and working memory on the children’s performance on the SR task. Outcomes and Results: The children with SLI showed significantly greater difficulty than the AM-TD group and the YTD group. With the exception of the genitive subject clauses, the children with SLI scored significantly higher on all sentences containing a Pn main clause than those containing a transitive main clause. Analysis of error types revealed the frequent production of a different type of relative clause than that presented in the task—with a strong word order preference in the NVN direction indicated for the children with SLI. The SR performance for the children with SLI was most highly correlated with expressive language skills and digit recall. Conclusions and Implications: Children with SLI have significantly greater difficulty with relative clauses than YTD children who are on average two years younger—relative clauses are a delay within a delay. Unlike the YTD children they show a tendency to simplify relative clauses in the noun verb noun (NVN) direction. They show a developmental hierarchy in their production of relative clause constructions and are highly influenced by the frequency distribution of the relative clauses in the ambient language.

As perturbações da aquisição e do desenvolvimento da linguagem : um estudo preliminar da prevalência, dos fatores associados e das necessidades de encaminhamento para terapia da fala em crianças de idade pré escolar no concelho de Oeiras

RESUMO - Objetivos: Identificar a prevalência das perturbações da aquisição e desenvolvimento da linguagem (PADL) em crianças dos 3 anos aos 5 anos e 11 meses integradas em instituições de ensino pré escolar do concelho de Oeiras, os fatores associados e as necessidades de encaminhamento para Terapia da Fala. Método: Foi realizado um estudo de prevalência, descritivo e correlacional. A amostra é aleatória estratificada e é constituída por 147 crianças dos 3 aos 5 anos e 11 meses que frequentam o ensino pré escolar, que tenham o português europeu como língua materna e que não apresentem sinalização ou diagnóstico de necessidades educativas especiais. A linguagem foi avaliada através do TALC (SUA-KAY & TAVARES, 2011) e do subteste fonológico TFF-ALPE (MENDES et al., 2009). As informações referentes às características sociodemográficas e aos dados linguísticos foram recolhidas através de uma ficha de caracterização. Para determinação das prevalências foi utilizada a razão de prevalências. O teste do qui-quadrado e o teste de Fisher foram utilizados na comparação das prevalências entre faixas etárias, sexos e natureza da instituição e na verificação de associação entre a presença de PADL e os possíveis fatores determinantes. A regressão logística foi utilizada para verificar a associação entre o nível educacional da mãe e a presença de PADL. Resultados: A prevalência global de PADL é de 14,9%. Nos rapazes a prevalência estimada foi de 19,0% e nas raparigas de 10,3%. Nas crianças de 3 anos não se verificou a presença de PADL, tendo-se encontrado uma prevalência de 23,5% nas crianças de 4 anos e de 14,9% nas de 5. A prevalência de PADL foi de 17,9% nas instituições públicas e de 12,5% nas privadas. Não se verificaram diferenças significativas entre as prevalências por faixa etária, sexo e natureza da instituição (p>0,05). Das crianças identificadas com PADL, 72,7% não têm apoio nem se encontram sinalizadas para terapia da fala e necessitam de ser encaminhadas. O sexo da criança, a idade dos pais, a escolaridade do pai, fatores perinatais, tamanho da família e história de alterações de linguagem na família não se encontraram associadas às PADL (p > 0,05), tendo esta associação sido verificada com a escolaridade da mãe (p < 0,05). As mães com nível educacionais mais elevados nem sempre apresentam um papel protetor de PADL. Conclusões: A prevalência global de PADL vai ao encontro da maioria das prevalências encontradas na literatura, sendo maior no sexo masculino, nas crianças de 4 anos e nas que frequentam o ensino público. A grande maioria das crianças com PADL não estavam sinalizadas como tal. A escolaridade da mãe foi o único fator que se encontrou associado à presença de PADL, não apresentando, no entanto, um valor explicativo totalmente claro.

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

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Complex language functions and subcortical mechanisms: evidence from Huntington's disease and patients with non-thalamic subcortical lesions

The neuropathological changes associated with Huntington's disease (HD) are most marked in the head of the caudate nucleus and, to a lesser extent, in the putamen and globus pallidus, suggesting that at least part of the language impairments found in patients with HD may result from non-thalamic subcortical (NTS) pathology. The present study aimed to test the hypothesis that a signature profile of impaired language functions is found in patients who have sustained damage to the non-thalamic subcortex, either focally induced or resulting from neurodegenerative pathology. The language abilities of a group of patients with Huntington's disease (n=13) were compared with those of an age- and education-matched group of patients with chronic NTS lesions following stroke (n=13) and a non-neurologically impaired control group (n=13). The three groups were compared on language tasks that assessed both primary and more complex language abilities. The primary language battery consisted of The Western Aphasia Battery and The Boston Naming Test, whilst the more complex cognitive-linguistic battery employed selected subtests from The Test of Language Competence-Expanded, The Test of Word Knowledge and The Word Test-Revised. On many of the tests of primary language function from the Western Aphasia Battery, both the HD and NTS participants performed in a similar manner to the control participants. The language performances of the HD participants were significantly more impaired (p&lt;0.05 using modified Bonferroni adjustments) than the control group, however, on various lexico-semantic tasks (e. g. the Boston Naming Test and providing definitions), on both single-word and sentence-level generative tasks (e. g. category fluency and formulating sentences), and on tasks which required interpretation of ambiguous, figurative and inferential meaning. The difficulties that patients with HD experienced with tasks assessing complex language abilities were strikingly similar, both qualitatively and quantitatively, to the language profile produced by NTS participants. The results provide evidence to suggest that a signature language profile is associated with damage to the non-thalamic subcortex resulting from either focal neurological insult or a degenerative disease.

Intervention orthophonique et neurobiologie du cerveau : apports de la neuroimagerie à la prise en charge de l’aphasie chronique

L’aphasie est un trouble acquis du langage entraînant des problèmes de communication pouvant toucher la compréhension et/ou l’expression. Lorsque l’aphasie fait suite à un accident vasculaire cérébral, une régression des déficits communicatifs s'observe initialement, mais elle peut demeurer sévère pour certains et est considérée chronique après un an. Par ailleurs, l’aphasie peut aussi être observée dans l’aphasie progressive primaire, une maladie dégénérative affectant uniquement le langage dans les premières années. Un nombre grandissant d’études s’intéressent à l’impact de la thérapie dans l’aphasie chronique et ont démontré des améliorations langagières après plusieurs années. L’hémisphère gauche semble avoir un rôle crucial et est associé à de meilleures améliorations langagières, mais la compréhension des mécanismes de plasticité cérébrale est encore embryonnaire. Or, l’efficacité de la thérapie dans l’aphasie progressive primaire est peu étudiée. À l’aide de la résonance magnétique fonctionnelle, le but des présentes études consiste à examiner les mécanismes de plasticité cérébrale induits par la thérapie Semantic Feature Analysis auprès de dix personnes souffrant d’aphasie chronique et d’une personne souffrant d’aphasie progressive primaire. Les résultats suggèrent que le cerveau peut se réorganiser plusieurs années après une lésion cérébrale ainsi que dans une maladie dégénérative. Au niveau individuel, une meilleure amélioration langagière est associée au recrutement de l’hémisphère gauche ainsi qu’une concentration des activations. Les analyses de groupe mettent en évidence le recrutement du lobule pariétal inférieur gauche, alors que l’activation du gyrus précentral gauche prédit l’amélioration suite à la thérapie. D’autre part, les analyses de connectivité fonctionnelle ont permis d’identifier pour la première fois le réseau par défaut dans l’aphasie. Suite à la thérapie, l’intégration de ce réseau bien connu est comparable à celle des contrôles et les analyses de corrélation suggèrent que l’intégration du réseau par défaut a une valeur prédictive d’amélioration. Donc, les résultats de ces études appuient l’idée que l’hémisphère gauche a un rôle prépondérant dans la récupération de l’aphasie et fournissent des données probantes sur la neuroplasticité induite par une thérapie spécifique du langage dans l’aphasie. De plus, l’identification d’aires clés et de réseaux guideront de futures recherches afin d’éventuellement maximiser la récupération de l’aphasie et permettre de mieux prédire le pronostic.

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.

Exploring writing in products in students with language impairments and autism spectrum disorders

Oral language skills scaffold written text production; students with oral language difficulties often experience writing problems. The current study examines the ways in which oral language problems experienced by students with language impairment (LI) and students with autism spectrum disorders (ASD) impact on their production of written text. One hundred and fifty seven participants (Mage = 10;2) with LI or ASD completed standardized measures of oral language, transcription, working memory, and nonverbal ability and produced a written narrative text assessed for productivity, grammatical accuracy, and quality. Measures of transcription, productivity, and grammatical accuracy, but not text quality, were poorer for students with LI. Transcription skills accounted for the majority of variance in the writing of the LI cohort. For the ASD cohort, handwriting, oral language and autism symptomatology were significant predictors. When students with ASD also experienced language problems, their performance was equivalent to that observed in the LI cohort.

Emotional and behavioural problems in children with language impairments and children with autism spectrum disorders

Background: Although it is well-established that children with language impairment (LI) and children with autism spectrum disorders (ASD) both show elevated levels of emotional and behavioural problems, the level and types of difficulties across the two groups have not previously been directly compared. Aims: To compare levels of emotional and behavioural problems in children with LI and children with ASD recruited from the same mainstream schools. Methods & Procedures: We measured teacher-reported emotional and behavioural problems using the Strengths and Difficulties Questionnaire (SDQ) in a sample of 5-to-13-year old children with LI (N=62) and children with ASD (N=42) attending mainstream school but with identified special educational needs. Outcomes & Results: Both groups showed similarly elevated levels of emotional, conduct and hyperactivity problems. The only differences between the LI and ASD groups were on subscales assessing peer problems (which were higher in the ASD group) and prosocial behaviours (which were higher in the LI group). Overall, there were few associations between emotional and behavioural problems and child characteristics, reflecting the pervasive nature of these difficulties in children with LI and children with ASD, although levels of problems were higher in children with ASD with lower language ability. However, in the ASD group only, a measure of family social economic status was associated with language ability and attenuated the association between language ability and emotional and behavioural problems. Conclusions & Implications: Children with LI and children with ASD in mainstream school show similarly elevated levels of emotional and behavioural problems, which require monitoring and may benefit from intervention. Further work is required to identify the child, family and situational factors that place children with LI and children with ASD at risk of emotional and behavioural problems, and whether these differ between the two groups. This work can then guide the application of evidence-based interventions to these children.

Characterization of language disorders in children with lead poisoning

Background: lead poisoning can have a negative impact on the neuropsychological functions, including language, due to the damage it causes to the developthent of the Central Nervous System. Aim: to verify the occurrence of language disorders in children who suffered from led poisoning and to verify the correlation between the lead concentration level in the blood and the language disorders presented by the children. Method: language evaluation of 20 preschoolers, with lead concentration level in the blood above 10μg/dl. Results: 13 children presented language impairment involving only phonology or more than one language subsystem. The statistical analysis indicated that no correlation exists between the severity of the language impairment and the concentration levels of lead. Conclusion: the number of children with language impairment indicates lead poisoning as a risk factor for the present alterations, even though other risk factors for language disorders were found and the absence of correlation between the investigated variables.

Desempenho de pré-escolares com queixa de Distúrbios da Comunicação no Preschool Language Assessment Instrument (Plai-2)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Desempenho de pré-escolares com queixa de Distúrbios da Comunicação no Preschool Language Assessment Instrument (Plai-2)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Cognitive impairment and cortical reorganization in children with benign epilepsy with centrotemporal spikes

Benign epilepsy with centrotemporal spikes (BECTS) is associated with mild cognitive deficits, especially language impairment. This study aimed to clarify whether children with BECTS with left- or right-hemispheric, or bilateral focus have specific neuropsychological language deficits when compared to healthy controls, whether these deficits correlate functionally with language network organization (typical vs. atypical), and whether cofactors such as duration, handedness, and medication have a relevant impact on language reorganization processes.