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1.
BMC Public Health ; 24(1): 1050, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622610

RESUMO

BACKGROUND: Despite young children's widespread use of mobile devices, little research exists on this use and its association with children's language development. The aim of this study was to examine the associations between mobile device screen time and language comprehension and expressive language skills. An additional aim was to examine whether three factors related to the domestic learning environment modify the associations. METHODS: The study uses data from the Danish large-scale survey TRACES among two- and three-year-old children (n = 31,125). Mobile device screen time was measured as time spent on mobile devices on a normal day. Measurement of language comprehension and expressive language skills was based on subscales from the Five to Fifteen Toddlers questionnaire. Multivariable linear regression was used to examine the association between child mobile device screen time and language development and logistic regression to examine the risk of experiencing significant language difficulties. Joint exposure analyses were used to examine the association between child mobile device screen time and language development difficulties in combination with three other factors related to the domestic learning environment: parental education, reading to the child and child TV/PC screen time. RESULTS: High mobile device screen time of one hour or more per day was significantly associated with poorer language development scores and higher odds for both language comprehension difficulties (1-2 h: AOR = 1.30; ≥ 2 h: AOR = 1.42) and expressive language skills difficulties (1-2 h: AOR = 1.19; ≥ 2 h: AOR = 1.46). The results suggest that reading frequently to the child partly buffers the negative effect of high mobile device screen time on language comprehension difficulties but not on expressive language skills difficulties. No modifying effect of parental education and time spent by the child on TV/PC was found. CONCLUSIONS: Mobile device screen time of one hour or more per day is associated with poorer language development among toddlers. Reading frequently to the child may have a buffering effect on language comprehension difficulties but not on expressive language skills difficulties.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Tempo de Tela , Humanos , Pré-Escolar , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Desenvolvimento da Linguagem , Computadores de Mão , Inquéritos e Questionários
2.
BMC Med Genomics ; 17(1): 95, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38643142

RESUMO

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation. In this study, we recruited a family that had two individuals with ID. Whole exome sequencing was performed to identify a homozygous frameshift variant (c.1171_1175delACCAT(p.Thr391fs*18*)) in NSUN2 (NM_017755.5) in the proband. The varint was confirmed as segregating in his affected brother and his parents by Sanger sequencing. The individuals that we described showed a similar dysmorphology profile to that associated with MRT5. To analyze the correlations between genotypes of NSUN2 and phenotypes of individuals with ID, we examined 17 variants and the associated phenotypes from 32 ID individuals in current and previous studies. We concluded that mutations in NSUN2 cause a wide range of phenotypic defects. Although some clinical manifestations were highly variable, the core phenotypes associated with NSUN2 mutations were dysmorphic facies, microcephaly, short stature, ID, growth restriction, language impairment, hypotonia and delayed puberty. Our study expands the genetic spectrum of NSUN2 mutations and helps to further define the genotype-phenotype correlations in MRT5.


Assuntos
Nanismo , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Microcefalia , Malformações do Sistema Nervoso , Masculino , Humanos , Deficiência Intelectual/genética , Microcefalia/genética , Facies , Mutação , Fenótipo , China , Linhagem , Metiltransferases/genética
3.
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
4.
Sleep Med ; 117: 99-106, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38522116

RESUMO

OBJECTIVES: This study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. METHODS: We evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good). We then performed a series of MANCOVAs and ANOVAs to compare the sleep quality and language skills of the two ASD clusters and the TD group. RESULTS: A main group effect (TD, "poor" cluster, and "good" cluster) was found in the total sleep quality and all its dimensions. Significant differences were revealed between the "good" and "poor" clusters in the total structural language score (F1,46 = 10.75, p < 0.001) and three of its subscales (speech: F1,46 = 9.19, p < 0.001; syntax, F1,46 = 8.61, p = 0.001; coherence: F1,46 = 11.36, p < 0.001); the total pragmatic language score (F1,46 = 7.00, p = 0.001) and three of its subscales (inappropriate initiation: F1,46 = 8.02, p = 0.001; use of context: F1,46 = 8.07, p = 0.001; nonverbal communication: F1,46 = 7.35, p = 0.001); and the social relations score (F1,46 = 9.97, p = 0.003). CONCLUSIONS: Sleep quality in children with ASD (especially a subgroup) is worse than in children with TD. There is an association between sleep quality and language skills, both at the pragmatic and structural levels.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Transtorno do Espectro Autista/complicações , Deficiência Intelectual/complicações , Qualidade do Sono , Transtornos do Desenvolvimento da Linguagem/complicações , Idioma
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
6.
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
8.
Res Dev Disabil ; 148: 104711, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38520885

RESUMO

BACKGROUND: Studies on late talkers (LTs) highlighted their heterogeneity and the relevance of describing different communicative profiles. AIMS: To examine lexical skills and gesture use in expressive (E-LTs) vs. receptive-expressive (R/E-LTs) LTs through a structured task. METHODS AND PROCEDURES: Forty-six 30-month-old screened LTs were distinguished into E-LTs (n= 35) and R/E-LTs (n= 11) according to their receptive skills. Lexical skills and gesture use were assessed with a Picture Naming Game by coding answer accuracy (correct, incorrect, no response), modality of expression (spoken, spoken-gestural, gestural), type of gestures (deictic, representational), and spoken-gestural answers' semantic relationship (complementary, equivalent, supplementary). OUTCOMES AND RESULTS: R/E-LTs showed lower scores than E-LTs for noun and predicate comprehension with fewer correct answers, and production with fewer correct and incorrect answers, and more no responses. R/E-LTs also exhibited lower scores in spoken answers, representational gestures, and equivalent spoken-gestural answers for noun production and in all spoken and gestural answers for predicate production. CONCLUSIONS AND IMPLICATIONS: Findings highlighted more impaired receptive and expressive lexical skills and lower gesture use in R/E-LTs compared to E-LTs, underlying the relevance of assessing both lexical and gestural skills through a structured task, besides parental questionnaires and developmental scales, to describe LTs' communicative profiles.


Assuntos
Gestos , Transtornos do Desenvolvimento da Linguagem , Humanos , Compreensão/fisiologia , Pais , Testes de Linguagem , Vocabulário
9.
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
10.
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
11.
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
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.
Br J Dev Psychol ; 42(2): 187-214, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38323720

RESUMO

Current methods used to investigate emotional inference and conflict resolution knowledge are limited in their suitability for use with children with language disorders due to a reliance on language processing. This is problematic, as nearly 8% of the population are estimated to have developmental language disorder (DLD). In this paper, we present 'Zoti's Social Toolkit', a set of animated scenarios that can be used to assess emotion inferencing and conflict resolution knowledge. All animated scenarios contain interpersonal situations centred around a gender-neutral alien named Zoti. Four studies investigated the face and construct validity of the stimuli. The final stimulus set can be used with children, who may or may not have language difficulties and is openly available for use in research.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Negociação , Criança , Humanos , Emoções , Idioma
14.
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
15.
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
16.
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
17.
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
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.
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
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