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1.
J Speech Lang Hear Res ; 67(4): 1143-1164, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38568053

RESUMO

PURPOSE: Connected speech analysis has been effectively utilized for the diagnosis and disease monitoring of individuals with Alzheimer's disease (AD). Existing research has been conducted mostly in monolingual English speakers with a noticeable lack of evidence from bilinguals and non-English speakers, particularly in non-European languages. Using a case study approach, we characterized connected speech profiles of two Bengali-English bilingual speakers with AD to determine the universal features of language impairments in both languages, identify language-specific differences between the languages, and explore language impairment characteristics of the participants with AD in relation to their bilingual language experience. METHOD: Participants included two Bengali-English bilingual speakers with AD and a group of age-, gender-, education-, and language-matched neurologically healthy controls. Connected speech samples were collected in first language (L1; Bengali) and second language (L2; English) using a novel storytelling task (i.e., Frog, Where Are You?). These samples were analyzed using an augmented quantitative production analysis and correct information unit analyses for productivity, fluency, syntactic and morphosyntactic features, and lexical and semantic characteristics. RESULTS: Irrespective of the language, AD impacted speech productivity (speech rate and fluency) and semantic characteristics in both languages. Unique language-specific differences were noted on syntactic measures (reduced sentence length in Bengali), lexical distribution (fewer pronouns and absence of reduplication in Bengali), and inflectional properties (no difficulties with noun or verb inflections in Bengali). Among the two participants with AD, the individual who showed lower proficiency and usage in L2 (English) demonstrated reduced syntactic complexity and morphosyntactic richness in English. CONCLUSIONS: Evidence from these case studies suggests that language impairment features in AD are not universal across languages, particularly in comparison to impairments typically associated with language breakdowns in English. This study underscores the importance of establishing connected speech profiles in AD for non-English-speaking populations, especially for structurally different languages. This would in turn lead to the development of language-specific markers that can facilitate early detection of language deterioration and aid in improving diagnosis of AD in individuals belonging to underserved linguistically diverse populations. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25412458.


Assuntos
Doença de Alzheimer , Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Humanos , Fala , Idioma
2.
Rev. neurol. (Ed. impr.) ; 78(5): 135-138, 1-15 de Mar. 2024. tab, graf, ilus
Artigo em Inglês, Espanhol | IBECS | ID: ibc-231051

RESUMO

Introducción La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación. (AU)


INTRODUCTIO NHuntington’s disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms’ onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington’s disease. CASE REPORT A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION. Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon. (AU)


Assuntos
Humanos , Feminino , Pré-Escolar , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Transtornos Heredodegenerativos do Sistema Nervoso , Pediatria , Transtornos do Neurodesenvolvimento , Transtornos do Desenvolvimento da Linguagem , Transtornos Neurológicos da Marcha
4.
J Speech Lang Hear Res ; 67(4): 1173-1185, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38536741

RESUMO

PURPOSE: The study examined the use of percent grammatical utterances (PGUs) for assessing grammatical skills in Mandarin-speaking 3-year-old children. METHOD: Participants were 30 Mandarin-speaking 3-year-olds with typical development. Language samples were collected in two visits for each child using a picture description task. Children were asked to talk about 16 pictures in response to questions and prompts at each visit. Pictures for the language sample collection were identical across the visits. PGUs were computed, and the grammatical errors that children produced in the task were coded and tallied for error types at each visit. Test-retest reliability, split-half reliability, and concurrent criterion validity of PGUs were evaluated. RESULTS: The mean PGU level was approximately 78% at Visit 1 and 81% at Visit 2, both of which were significantly below the mastery level (i.e., 90%). The correlation coefficient for test-retest reliability of PGU was large (r = .70, p < .01); the correlation coefficient for split-half reliability was medium at Visit 1 (r = .47, p < .01) and large (r = .65, p < .01) at Visit 2. In addition, the correlation coefficient for concurrent criterion validity of PGU was medium for both visits (rs ≥ .35, ps ≤ .03). The ranking and proportion of each error type were similar between the visits. CONCLUSION: The initial evidence from psychometric properties suggests that PGU computed from the picture description task is a reliable and valid measure for evaluating grammatical skills in Mandarin-speaking 3-year-old children. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25395499.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Idioma , Humanos , Pré-Escolar , Criança , Reprodutibilidade dos Testes , Testes de Linguagem , Linguagem Infantil
5.
Brain Lang ; 251: 105404, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38513427

RESUMO

Procedural circuit Deficit Hypothesis (PDH) of Developmental Language Disorder (DLD) predicts problems with learning and retention of grammar. Twenty 7- to 9-year-old Cantonese-speaking children with DLD and their typically developing (TD) age peers participated in a syntactic priming task that was given in two sessions one week apart. Production of Indirect Object Relative Clause (IORC) was tested using a probe test before and after the priming task, and one week later. The study involved two cycles of learning and retention, and two levels of prior knowledge. Bayesian linear mixed effects modelling was used for data analysis. Children with DLD learned, and possibly retained, IORC less well than TD children after age, working memory and general grammatical knowledge were controlled for. No interaction effects were significant, meaning that cycle and prior knowledge affected both groups similarly in learning and retention. Results were discussed in relation to PDH and the Complementary Learning Systems Theory.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Recém-Nascido , Teorema de Bayes , Aprendizagem , Linguística , Memória de Curto Prazo , Testes de Linguagem
7.
Artigo em Russo | MEDLINE | ID: mdl-38372732

RESUMO

OBJECTIVE: To substantiate the use of photochromotherapy (narrow-band optical radiation with an average wavelength of 650 nm) in the complex treatment of children with developmental speech delay on the type of general speech underdevelopment (GSU) of I and II degree. MATERIAL AND METHODS: A number of children equal 70 aged from 4 to 6 years with developmental speech delay were examined. All patients were randomized into 2 clinically comparable groups: the 1st (study) group included 35 patients who received medical treatment in accordance with clinical recommendations in combination with the use of narrow-band optical radiation with an average wavelength of 650nm for 10 days; the 2nd (comparison) group consisted of 35 subjects who received standard drug therapy according to the established clinical recommendations. All patients underwent a comprehensive clinical examination and a special neurological investigation, including electroencephalography and electromyography, as well as an assessment of the development of speech functions and dynamic coordination of gesture, the level of social and communication skills development and neuropsychological processes. RESULTS: The following data were obtained during the complex treatment with the inclusion of narrow-band optical radiation with an average wavelength of 650 nm (red radiation): statistically significant improvement of speech development (p<0.05); improvement of values of social adaptation skills of medium (71%) (Z=2.769; p=006) and low level (29%) (Z=2.691; p=0.007); significant positive dynamics of speech status (Z=3.911; p=0.000); spontaneous activity relief at rest, indicating normalization of muscle tone. CONCLUSION: The inclusion of photochromotherapy in standard therapeutic regimens for children with developmental speech delay on the GSU type of I, II degrees contributes to a significantly confirmed pronounced clinical improvement and can be recommended for practical health care.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Fala , Criança , Humanos
8.
Medicina (B Aires) ; 84 Suppl 1: 65-71, 2024 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-38350627

RESUMO

INTRODUCTION: The population of children with slow emergence of language development varies widely, both in their initial profile and in their response to intervention. In this sense, there is a group of late talkers who continue to show persistent language difficulties, in some cases exhibiting signs compatible with verbal dyspraxia. METHOD: In this paper we present the different response to intervention of two profiles of late talkers. Specifically, the Target Word© program (Hanen Centre) was implemented, which is addressed to latetalking children and their families. It combines the technique of focused stimulation with guidance to parents on strategies that stimulate global language development. RESULTS: Much of the symptomatology shown in one case of poor progress coincides with retrospective descriptions of children subsequently diagnosed with dyspraxia and can be considered early indicators of the disorder: unintelligibility, reduced consonant inventory or difficulties in word repetition. DISCUSSION: The different response to intervention contributes to diagnostic decision making and the early implementation of specific strategies directed to improve speech learning skills by incorporating motor learning principles. The few studies of intervention in suspected verbal dyspraxia in early childhood offer promising results on a variety of speech assessment indicators, and provide practitioners with valuable information with which to support the intervention in this population.


Introducción: La población de niños que comienzan con lentitud el desarrollo del lenguaje varía ampliamente, tanto en su perfil inicial como en la respuesta a la intervención. En este sentido, existe un grupo de niños, denominados hablantes tardíos, que continúan mostrando dificultades persistentes en el lenguaje. Algunos de estos niños muestran signos compatibles con la dispraxia verbal, y que se ponen de manifiesto a lo largo de la intervención. Método: En este trabajo presentamos la diferente respuesta a la intervención de dos perfiles de hablante tardío. Concretamente, se aplicó el programa Target Word©, del centro Hanen, que conjuga la técnica de la estimulación focalizada con la orientación a padres sobre estrategias que promueven el desarrollo del lenguaje. Resultados: Gran parte de la sintomatología mostrada en uno de los dos casos, que experimentó un progreso pobre, coincide con las descripciones retrospectivas de niños posteriormente diagnosticados con dispraxia y pueden considerarse indicadores tempranos del trastorno: ininteligibilidad, inventario consonántico reducido o dificultades en la repetición de palabras. Discusión: La diferente respuesta a la intervención contribuye a la toma de decisiones diagnósticas y a la aplicación temprana de estrategias específicas para la mejora de las habilidades de aprendizaje del habla mediante la incorporación de los principios del aprendizaje motor. Los escasos estudios de intervención en casos de sospecha de dispraxia verbal en la infancia temprana ofrecen resultados prometedores en diversos indicadores de evaluación del habla, y proporcionan a los profesionales una información valiosa en la que fundamentar la intervención en esta población.


Assuntos
Apraxias , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Pré-Escolar , Fala/fisiologia , Estudos Retrospectivos , Desenvolvimento da Linguagem , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/terapia , Apraxias/diagnóstico , Apraxias/terapia
9.
Hum Genet ; 143(2): 169-183, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38300321

RESUMO

Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental disorders (NDD), corroborating the concept of the NDD continuum. There is a lack of studies to understand the whole genetic spectrum in individuals with DLD. Previously, we recruited 61 probands with severe DLD from 59 families and examined 59 of them and their families using microarray genotyping with a 6.8% diagnostic yield. Herein, we investigated 53 of those probands using whole exome sequencing (WES). Additionally, we used polygenic risk scores (PRS) to understand the within family enrichment of neurodevelopmental difficulties and examine the associations between the results of language-related tests in the probands and language-related PRS. We identified clinically significant variants in four probands, resulting in a 7.5% (4/53) molecular diagnostic yield. Those variants were in PAK2, MED13, PLCB4, and TNRC6B. We also prioritized additional variants for future studies for their role in DLD, including high-impact variants in PARD3 and DIP2C. PRS did not explain the aggregation of neurodevelopmental difficulties in these families. We did not detect significant associations between the language-related tests and language-related PRS. Our results support using WES as the first-tier genetic test for DLD as it can identify monogenic DLD forms. Large-scale sequencing studies for DLD are needed to identify new genes and investigate the polygenic contribution to the condition.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Transtornos do Neurodesenvolvimento , Humanos , Sequenciamento do Exoma , Suécia , Transtornos do Desenvolvimento da Linguagem/genética , Análise em Microsséries , Proteínas de Ligação a RNA
10.
Res Dev Disabil ; 147: 104695, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38394957

RESUMO

BACKGROUND: It is unclear how speech production, selective attention, and phonological working memory are related to first- (L1) and second-language (L2) vocabularies in bilingual preschoolers with Developmental Language Disorder (DLD). AIMS: To study individual variation in vocabularies in DLD bilingual preschoolers by (1) comparing them to typically developing (TD) bilingual, and TD and DLD monolingual peers; (2) differentially predicting L2 vocabulary; and (3) identifying and characterizing bilinguals' L1/L2 vocabulary profiles. METHODS: We measured the selective attention, working memory, and L1 Turkish/Polish (where applicable) and L1/L2 Dutch speech and vocabulary abilities of 31 DLD bilingual, 37 TD bilingual, and 61 DLD and 54 TD Dutch monolingual three-to-five year-olds. RESULTS: DLD bilinguals scored lower than TD bilinguals and TD/DLD monolinguals on all measures, except L2 vocabulary, where all bilinguals underperformed all monolinguals. Selective attention predicted Dutch vocabulary across groups. Three bilingual vocabulary profiles emerged: DLD bilinguals were less likely to be L1 dominant, TD/DLD bilinguals with better attention more often had a Balanced high L1/L2 profile, while those with poorer selective attention and L1 speech tended to be L2 dominant. CONCLUSIONS: These findings highlight the roles of L1 speech and selective attention, rather than L2 speech and working memory, in understanding bilingual vocabulary variation among DLD preschoolers.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Humanos , Vocabulário , Idioma , Fala
11.
Child Care Health Dev ; 50(2): e13239, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38413377

RESUMO

BACKGROUND: Preterm children are at increased risk of cognitive and language delay compared with term-born children. While many perinatal factors associated with prematurity are well established, there is limited research concerning the influence of the socio-familial environment on the development of preterm children. This study aims to assess the relative impact of perinatal and socio-familial risk factors on cognitive and language development at 2 years corrected age (CA). METHOD: This retrospective cross-sectional study included preterm infants with a gestational age <32 weeks and/or a birth weight <1500 g, who underwent neurodevelopmental assessment at 2 years CA. Cognitive and language scores were assessed using the Bayley Scales of Infant-Toddler Development, third edition. Adjusted odds ratios (aORs) with 95% confidence intervals (CIs) were calculated using a multivariable model to examine the relationship between developmental delays and perinatal and socio-familial factors. RESULT: The prevalence of language delay was negatively associated with daycare attendance (aOR: 0.25, 95% CI: 0.07-0.85, p < 0.05) and high maternal educational levels (aOR: 0.24, 95% CI: 0.05-0.93, p < 0.05) and positively associated with bilingual environments (aOR: 5.62, 95% CI: 1.46-24.3, p < 0.05). Perinatal and postnatal risk factors did not show a significant impact on cognitive or language development. CONCLUSION: The development of language appears to be more influenced by the socio-familial environment than by early perinatal and postnatal factors associated with prematurity. These findings highlight the importance of considering socio-familial factors in the early identification and intervention of language delay among preterm children.


Assuntos
Lactente Extremamente Prematuro , Transtornos do Desenvolvimento da Linguagem , Lactente , Gravidez , Feminino , Criança , Recém-Nascido , Humanos , Lactente Extremamente Prematuro/psicologia , Deficiências do Desenvolvimento/epidemiologia , Estudos Retrospectivos , Estudos Transversais , Desenvolvimento da Linguagem , Desenvolvimento Infantil , Idade Gestacional , Transtornos do Desenvolvimento da Linguagem/etiologia , Transtornos do Desenvolvimento da Linguagem/complicações , Cognição , Recém-Nascido de muito Baixo Peso
12.
Lang Speech Hear Serv Sch ; 55(2): 577-597, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38319654

RESUMO

PURPOSE: The purpose of this study was to investigate the diagnostic accuracy of two measures derived from spontaneous language samples, mean length of utterance in words (MLUw) and percentage of grammatical utterances (PGU), in identifying developmental language disorder (DLD) in Spanish-English bilingual children. We examined two approaches: best language and total language. METHOD: The participants in this study included 74 Spanish-English bilingual children with (n = 36) and without (n = 38) DLD. Language samples were elicited through a story retell and story generation task using Frog wordless picture books in English and Spanish. Stories were transcribed and coded using the Systematic Analysis of Language Samples (Miller & Iglesias, 2020) to extract MLUw and PGU in both languages. RESULTS: Logistic regression analyses suggested that a model that included PGU, MLUw, and age achieved the best diagnostic accuracy in predicting group membership. Both approaches, best language and total language, had fair diagnostic accuracy. CONCLUSIONS: In combination, PGU and MLUw seem to be useful diagnostic tools to differentiate bilingual children with and without DLD. Clinical implications and usability are discussed.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Criança , Humanos , Linguagem Infantil , Testes de Linguagem , Idioma , Transtornos do Desenvolvimento da Linguagem/diagnóstico
13.
Lang Speech Hear Serv Sch ; 55(2): 545-560, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38363723

RESUMO

PURPOSE: We investigated the impact of narrative task complexity on macrostructure in both languages of bilingual kindergarten children and the relationship of macrostructure across languages to guide practitioners' choice of assessment tools and aid in interpretation of results. METHOD: Thirty-nine English-Hebrew bilingual kindergarten children (Mage = 65 months) retold two narratives in each language: a one-episode story and a three-episode story. Stories were coded for macrostructure using five story grammar (SG) elements: Internal State-Initiating Event, Goal, Attempt, Outcome, and Internal State-Reaction. Linear mixed and generalized linear mixed models were used to analyze scores for total macrostructure, episode, and SG elements; correlations were conducted to examine cross-language relations in macrostructure. RESULTS: In general, performance on the single-episode story was significantly better than for the three-episode story: higher percentages of SG elements were produced, with better performance in the home language/English. In addition to Task and Language effects, Age and Episode (Episodes 1/2/3 of the three-episode story vs. one-episode story) emerged as predictors of macrostructure. Performance on the different episodes of the three-episode story varied, with Episode 3 yielding scores similar to those on the one-episode story. Children produced more Attempts and Outcomes than other SG elements. Finally, the total macrostructure scores yielded low to moderate correlations across languages for both one-episode and three-episode stories, but there were no significant cross-task (one-episode/three-episode story) correlations. CONCLUSIONS: The study illustrates the importance of task complexity in narrative performance. Ideally, assessment should include a variety of tools, which would include narratives varying in complexity. However, time constraints do not always permit this luxury. The findings here may offer more to therapists than to diagnosticians. Narratives should be manipulated for episodic complexity not only in the number of episodes but also with regard to characters, goals, feelings, and reactions to events. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25222094.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Criança , Humanos , Pré-Escolar , Idioma , Linguística , Linguagem Infantil , Narração
14.
Cortex ; 173: 96-119, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38387377

RESUMO

Word deafness is a rare neurological disorder often observed following bilateral damage to superior temporal cortex and canonically defined as an auditory modality-specific deficit in word comprehension. The extent to which word deafness is dissociable from aphasia remains unclear given its heterogeneous presentation, and some have consequently posited that word deafness instead represents a stage in recovery from aphasia, where auditory and linguistic processing are affected to varying degrees and improve at differing rates. Here, we report a case of an individual (Mr. C) with bilateral temporal lobe lesions whose presentation evolved from a severe aphasia to an atypical form of word deafness, where auditory linguistic processing was impaired at the sentence level and beyond. We first reconstructed in detail Mr. C's stroke recovery through medical record review and supplemental interviewing. Then, using behavioral testing and multimodal neuroimaging, we documented a predominant auditory linguistic deficit in sentence and narrative comprehension-with markedly reduced behavioral performance and absent brain activation in the language network in the spoken modality exclusively. In contrast, Mr. C displayed near-unimpaired behavioral performance and robust brain activations in the language network for the linguistic processing of words, irrespective of modality. We argue that these findings not only support the view of word deafness as a stage in aphasia recovery but also further instantiate the important role of left superior temporal cortex in auditory linguistic processing.


Assuntos
Afasia , Surdez , Transtornos do Desenvolvimento da Linguagem , Acidente Vascular Cerebral , Humanos , Testes Neuropsicológicos , Afasia/etiologia , Acidente Vascular Cerebral/complicações , Lobo Temporal/patologia , Percepção Auditiva
15.
J Commun Disord ; 108: 106407, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38330782

RESUMO

INTRODUCTION: Like children with typical language development, their peers with developmental language disorder (DLD) are expected to learn English as a foreign language (EFL). For pupils without DLD, it is well-established that amount of informal exposure to English outside of the classroom, starting age of EFL instruction and motivation are strong positive predictors of EFL learning rate and/or achievement, whereas anxiety is negatively related to performance. This paper is the first attempt to investigate how these predictors of EFL performance operate in learners with DLD. METHODS: Participants were nineteen Dutch-speaking 7th graders with DLD learning English as a school subject at a specialist education facility in the Netherlands. English receptive grammar and receptive vocabulary were measured twice, with a four-month interval. Foreign language learning motivation, anxiety and (length and amount of) informal exposure to and instruction in English were measured via questionnaires. RESULTS: The participants did not show any progress on English vocabulary and grammar. At Time 1, vocabulary and grammar scores were positively related to starting age of EFL instruction and negatively related to anxiety. For vocabulary, achievement was also positively predicted by attitudes towards English lessons. Only the relationship between starting age of instruction and vocabulary outcomes was visible at Time 2. Amount and length of informal exposure to English did not predict performance, which is in stark contrast to the patterns observed in EFL learners with typical language development. CONCLUSIONS: We conclude that children with DLD benefit from a later onset of foreign language lessons, whereas length and amount of out-of-school exposure to English are less important in the context of DLD, possibly due to difficulty with implicit learning.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Criança , Humanos , Vocabulário , Motivação , Idade de Início , Ansiedade
16.
Brain Lang ; 251: 105390, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38387221

RESUMO

This study examined proprioceptive acuity and its relationship with motor function in Mandarin-speaking children with and without developmental language disorder (DLD). Fifteen children aged 9-12 years with DLD and 15 age- and sex-matched typically developing (TD) children participated in this study. Children's motor function was assessed using the second edition of the Movement Assessment Battery for Children (MABC-2). Their proprioceptive acuity was measured based on the absolute error (i.e., proprioceptive bias) and variable error (i.e., proprioceptive precision) when performing joint position matching tasks. Compared with the TD group, the DLD group exhibited impaired motor function and poorer proprioceptive acuity, as evidenced by the lower scores on the MABC-2 and the higher rates of absolute and variable errors in the joint position matching tasks. A significant association between the proprioceptive bias (absolute error) and the MABC-2 total score was also observed in the combined cohort of children with and without DLD. We conclude that DLD is associated with proprioceptive dysfunction.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Destreza Motora , Criança , Humanos , Propriocepção , Movimento , Testes de Linguagem
17.
Eur J Med Genet ; 68: 104923, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38346666

RESUMO

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants. Language disorders were common (11/12), and most had mild to moderate deficits across receptive, expressive, written, and social-pragmatic domains. Speech disorders were frequent (7/9), including phonological delay (6/9) and disorder (3/9), and childhood apraxia of speech (3/9). All those tested for cognitive abilities had a FSIQ ≥70 (4/4). Participants had vision impairment (13/15), fine (8/15) and gross motor delay (10/15) which often resolved in later childhood, infant feeding impairment (8/15), and infant hypotonia (9/15). We have implicated BRPF1-related disorder as causative for speech and language disorder, including childhood apraxia of speech. Adaptive behavior and cognition were strengths when compared to other monogenic neurodevelopmental chromatin-related disorders. The universal involvement of speech and language impairment is noteable, relative to the high degree of phenotypic variability in BRPF1-related disorder.


Assuntos
Apraxias , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Masculino , Proteínas Adaptadoras de Transdução de Sinal/genética , Apraxias/genética , Proteínas que Contêm Bromodomínio , Proteínas de Ligação a DNA/genética , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Fenótipo , Fala , Distúrbios da Fala , Feminino
18.
Neuropsychologia ; 196: 108817, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38355036

RESUMO

Extent evidence has shown that morphosyntax is one of the most challenging linguistic areas for children with atypical early language experiences. Over the last couple of years, comparisons between deaf children with CIs and children with DLD have gained interest - as cases of atypical early language experiences, including, but not restricted to, delayed onset of exposure to language input and language-processing difficulties. Evidence suggests that the morphosyntactic difficulties experienced by deaf children with CIs and children with DLD are very similar in nature. However, the few studies that have directly compared both groups are inconclusive, with deaf children with CIs either performing significantly better or on par with children with DLD. These differences in findings can be attributed, in part at least, to a failure to implement essential methodological controls - even more so given that deaf children with CIs comprise a very diverse population. The goal of the present study was to directly compare the performance of deaf children with CIs to that of children with DLD on a morphosyntactic ability known to be particularly difficult for both groups. Specifically, the present study conducted a detailed examination of the past tense marking abilities of deaf children with CIs and children with DLD while controlling for factors specific to deaf children with CIs, for children's basic cognitive abilities as well as for children's age, sex assigned at birth, and SES. Past tense verbs are particularly relevant as they are used as a marker of developmental language disorder (DLD) in children learning French. Moreover, extent evidence shows that deaf children with CIs and children with DLD have important WM difficulties, but also that there is an association between auditory perception, processing abilities, and working memory (WM) abilities as well as with the acquisition of morphological features, including tense marking. Unfortunately, no study has examined the relation between the accurate production of past tense verbs and WM abilities in children with CIs and children with DLD learning French. Fifteen deaf children with CIs between 5 and 7 years of age were compared to 15 children with DLD and to 15 typically-developing monolingual controls (MON), matched on important variables, using a past tense elicitation task as well as measures of phonological and nonverbal WM abilities. The results confirm that the deaf children with CIs and the children with DLD both performed significantly lower than the MON controls on the past tense elicitation task - suggesting that difficulties with past tense verbs in French might not only be a marker of DLD but, instead, a correlate of atypical language acquisition. Of importance, the present study is the first to show that deaf children with CIs perform significantly lower than children with DLD on a past tense elicitation task - highlighting the importance of using methodological controls. As well, significant correlations were found between the performance of the deaf children with CIs and of the children with DLD on the past tense elicitation task and their phonological and nonverbal WM abilities. Taken together with previous studies conducted in the same populations, this represents another evidence suggesting that early atypical language experiences result in language and WM deficits, including morphosyntactic difficulties.


Assuntos
Implantes Cocleares , Transtornos do Desenvolvimento da Linguagem , Criança , Recém-Nascido , Humanos , Memória de Curto Prazo , Transtornos do Desenvolvimento da Linguagem/etiologia , Idioma , Transtornos da Memória , Testes de Linguagem
19.
Epigenomics ; 16(3): 137-146, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38264859

RESUMO

Background: Developmental language disorder (DLD) is a neurodevelopmental disorder. Considering the pivotal role of epigenetics in neurodevelopment, we examined any altered DNA methylation between DLD and control subjects. Materials & methods: We looked into genome-wide methylation differences between DLD and control groups. The findings were validated by quantitative PCR (qPCR). Results: In the DLD group, differential methylation of CpG sites was observed in the Wnt signaling regulator genes APCDD1, AMOTL1, LRP5, MARK2, TMEM64, TRABD2B, VEPH1 and WNT2B. Hypomethylation of APCDD1, LRP5 and WNT2B was confirmed by qPCR. Conclusion: This is the first report associating Wnt signaling with DLD. The findings are relevant in the light of the essential role of Wnt in myelination, and of the altered myelination in DLD.


Developmental language disorder (DLD), previously called specific language impairment, is a neurodevelopmental disorder affecting approximately 7% of school-age children. Affected children fail to develop normal speech and language skills; this is a major public health concern as it adversely impacts their communication, academic and social skills. Human brain development is complex, and the accurate temporal and spatial regulation of the expression of multiple genes is essential for proper brain development. Epigenetic factors such as DNA methylation can modulate gene expression without altering the DNA sequence and are considered key regulators of the expression of genes involved in neurodevelopment. We examined any genome-wide methylation differences between children with DLD and control subjects. The findings were validated by real-time qPCR. The DLD group showed differential methylation of CpG sites in several Wnt signaling regulator genes (APCDD1, AMOTL1, LRP5, MARK2, TMEM64, TRABD2B, VEPH1, WNT2B) compared with the control group. Among these, hypomethylation of APCDD1, LRP5 and WNT2B was confirmed by qPCR. This is the first report associating Wnt signaling with DLD. The findings are relevant in the light of the essential role of Wnt in neuronal myelination and the altered myelination in DLD revealed by magnetic resonance imaging.


Assuntos
Metilação de DNA , Transtornos do Desenvolvimento da Linguagem , Humanos , Via de Sinalização Wnt , Epigênese Genética , Genes Reguladores , Angiomotinas , Peptídeos e Proteínas de Sinalização Intracelular
20.
BMJ Open ; 14(1): e074272, 2024 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-38184311

RESUMO

INTRODUCTION: Speech and language therapists (SLTs) worldwide report challenges with providing recommended, evidence-based intervention intensity for children with speech sound disorder (SSD). Challenges such as service constraints and/or family contexts impact on access to optimal therapy intensity. Existing research indicates that empowering and training parents to deliver intervention at home, alongside SLT support, offers one possible solution to increasing the intensity of intervention children with SSD receive. Digital health could increase accessibility to intensive home practice and help sustain engagement with therapy activities. Further exploration is needed around what makes parent-implemented interventions for children with SSD effective, for who and in which situations. This paper outlines the protocol for a realist review which aims to explore the active ingredients and contextual factors of effective digital parent-led interventions. METHODS AND ANALYSIS: A realist review will explore the research question, following six stages. The scope of the review will be determined, and initial programme theories will be developed about what works in digital parent-implemented interventions for SSD, for whom, how, why and in what circumstances. Relevant secondary data, identified through a formal search strategy, will be selected, appraised, analysed and synthesised using realist principles to test and further refine the initial programme theories. This process will develop refined underpinning explanatory theories which capture the interaction between contexts, mechanisms and outcomes of the intervention. An expert steering group will provide insight to inform explanatory theories, searches, and dissemination. ETHICS AND DISSEMINATION: Ethical approval is not required for this review. The refined programme theories from the review will inform the next stages of a wider study. A subsequent realist evaluation will test and further refine theories with key stakeholders. Following this, the underpinning programme theory will be used to coproduce a digital tool, to support parents to deliver home intervention alongside SLT support.


Assuntos
Apraxias , Transtornos do Desenvolvimento da Linguagem , Transtorno Fonológico , Gagueira , Criança , Humanos , Terapia da Linguagem , Fala , Fonoterapia , Pais , Literatura de Revisão como Assunto
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