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1.
Brain Lang ; 257: 105462, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39357142

RESUMO

Few studies have examined neural correlates of late talking in toddlers, which could aid in understanding etiology and improving diagnosis of developmental language disorder (DLD). Greater frontal gamma activity has been linked to better language skills, but findings vary by risk for developmental disorders, and this has not been investigated in late talkers. This study examined whether frontal gamma power (30-50 Hz), from baseline-state electroencephalography (EEG), was related to DLD risk (categorical late talking status) and a continuous measure of expressive language in n = 124 toddlers. Frontal gamma power was significantly associated with late talker status when controlling for demographic factors and concurrent receptive language (ß = 1.96, McFadden's Pseudo R2 = 0.21). Demographic factors and receptive language did not significantly moderate the association between frontal gamma power and late talker status. A continuous measure of expressive language ability was not significantly associated with gamma (r = -0.07). Findings suggest that frontal gamma power may be useful in discriminating between groups of children that differ in DLD risk, but not for expressive language along a continuous spectrum of ability.


Assuntos
Eletroencefalografia , Lobo Frontal , Ritmo Gama , Transtornos do Desenvolvimento da Linguagem , Humanos , Feminino , Masculino , Pré-Escolar , Lobo Frontal/fisiologia , Ritmo Gama/fisiologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Lactente , Idioma , Desenvolvimento da Linguagem , Fala/fisiologia , Linguagem Infantil
2.
Brain Lang ; 257: 105450, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39305719

RESUMO

Cross-linguistically, nonword repetition (NWR) tasks have been found to differentiate between typically developing (TD) children and those with Developmental Language Disorder (DLD), even when second-language TD (L2-TD) children are considered. This study examined such group differences in Cantonese. Fifty-seven age-matched children (19 monolingual DLD (MonDLD); 19 monolingual TD (MonTD); and 19 L2-TD) repeated language-specific nonwords with varying lexicality levels and Cantonese-adapted quasi-universal nonwords. At whole-nonword level scoring, on the language-specific, High-Lexicality nonwords, MonDLD scored significantly below MonTD and L2-TD groups which did not differ significantly from each other. At syllable-level scoring, the same pattern of group differentiation was found on quasi-universal nonwords. These findings provide evidence from a typologically distinct and understudied language that NWR tasks can capture significant TD/DLD group differences, even for L2-Cantonese TD children with reduced language experience. Future studies should compare the performance of an L2-DLD group and evaluate the sensitivity and specificity of Cantonese NWR.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Feminino , Masculino , Criança , Testes de Linguagem/normas , Pré-Escolar
3.
J Speech Lang Hear Res ; 67(9): 3148-3162, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39196850

RESUMO

PURPOSE: Developmental language disorder (DLD) and autism sometimes appear as overlapping conditions in behavioral tests. There is much literature on the visual scanning pattern (VSP) of faces in autistic children, but this is scarce regarding those with DLD. The purpose of this study was to compare the VSP of faces in young children with DLD, those with autism, and typically developing peers, assessing the effect of three variables. METHOD: Two eye-tracking experiments were designed to assess the effect of the emotion and the poser's gender (Experiment 1) and the poser's age (Experiment 2) on the VSP of participants (Experiment 1: N = 59, age range: 32-74 months; Experiment 2: N = 58, age range: 32-74 months). We operationalized the VSP in terms of attentional orientation, visual preference, and depth of processing of each sort of face. We developed two paired preference tasks in which pairs of images of faces showing different emotions were displayed simultaneously to compete for children's attention. RESULTS: Data analysis revealed two VSP markers common to both disorders: (a) superficial processing of faces and (b) late orientation to angry and child faces. Moreover, one specific marker for each condition was also found: typical preference for child faces in children with DLD versus diminished preference for them in autistic children. CONCLUSIONS: Considering the similarities found between children with DLD and those with autism, difficulties of children with DLD in attention to faces have been systematically underestimated. Thus, more effort must be made to identify and respond to the needs of this population. Clinical practice may benefit from the potential of eye-tracking methodology and the analysis of the VSP to assess attention to faces in both conditions. This would also contribute to the improvement of early differential diagnosis in the long run.


Assuntos
Atenção , Transtorno Autístico , Tecnologia de Rastreamento Ocular , Transtornos do Desenvolvimento da Linguagem , Humanos , Masculino , Feminino , Atenção/fisiologia , Pré-Escolar , Transtornos do Desenvolvimento da Linguagem/psicologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtorno Autístico/psicologia , Transtorno Autístico/fisiopatologia , Criança , Expressão Facial , Emoções , Reconhecimento Facial/fisiologia , Estimulação Luminosa/métodos
4.
J Speech Lang Hear Res ; 67(8): 2638-2652, 2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-39024517

RESUMO

PURPOSE: Developmental language disorder (DLD) is a neurodevelopmental disorder that impacts approximately 7% of the population and is characterized by unexplained deficits in expressive and/or receptive components of language. A common procedural learning task, serial reaction time (SRT), has been used to develop models of the basis of DLD. However, paradigms involve differing levels of implicit and explicit learning during this task, muddying interpretations of the data. Here, we tested adults with DLD on implicit and explicit SRT tasks to better understand implicit and explicit procedural learning in this population. We hypothesized that adults with DLD would demonstrate reduced learning on only the implicit SRT task, as alternate explicit neural mechanisms could lead to equivalent performance on the explicit task. METHOD: Fifty participants (25 with DLD and 25 with typical language) completed implicit and explicit SRT tasks, measuring their ability to learn visually presented 10-element sequences. Group differences were evaluated on sequence learning, error rates, and explicit recall of the sequence after learning. RESULTS: Sequence learning was the same between the groups on both tasks. However, individuals with DLD showed increased errors and significantly worse recall of the explicitly learned sequence. CONCLUSIONS: Results suggest that sequence learning may be intact in this population, while aspects of explicit learning and motoric responses are impaired. Results are interpreted in light of a neurobiological model of DLD. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.26210651.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Tempo de Reação , Aprendizagem Seriada , Humanos , Masculino , Feminino , Adulto , Transtornos do Desenvolvimento da Linguagem/psicologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adulto Jovem , Aprendizagem Seriada/fisiologia , Rememoração Mental , Aprendizagem , Testes de Linguagem , Adolescente
5.
Viruses ; 16(7)2024 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-39066166

RESUMO

AIM: Congenital Zika Virus Syndrome (CZS) presents notable hurdles to neurodevelopment, with language development emerging as a crucial aspect. This study investigates sleep patterns and language skills in children with CZS, aiming to explore the potential synchronization of sleep development with their neurodevelopment. METHOD: We studied cross-sectionally 135 children with CZS aged 0 to 48 months, investigating sleep using the BISQ Questionnaire. Language development was assessed using the Early Language Milestone Scale, while motor development and cognitive and social ability were assessed using the Bayley Scales of Infant and Young Child Development 3rd edition. We also studied longitudinally a cohort of 16 children (initially aged 0 to 12 months) whom we followed for four years, assessing at one-year intervals. RESULTS: Sleep disturbances and language deficits were highly frequent in this population. In the 0-12 months group, a late bedtime and frequent nighttime awakenings were associated with poorer auditory expressive skills. At 13-24 months, nighttime awakenings were associated with poorer auditory expressive skills, while among 25-36-month-olds decreased auditory receptive skills were associated with longer sleep onset latency and reduced nighttime sleep duration. CONCLUSION: The brain alterations caused by Zika virus infection affect both sleep disturbances and delays in language development. It is possible that sleep disturbance may be a mediating factor in the pathway between CZS and delayed language development, as the three analyzed language skills showed a correlation with sleep parameters.


Assuntos
Desenvolvimento da Linguagem , Sono , Infecção por Zika virus , Humanos , Infecção por Zika virus/complicações , Infecção por Zika virus/fisiopatologia , Infecção por Zika virus/virologia , Infecção por Zika virus/congênito , Lactente , Feminino , Masculino , Pré-Escolar , Sono/fisiologia , Recém-Nascido , Estudos Transversais , Transtornos do Sono-Vigília/fisiopatologia , Transtornos do Sono-Vigília/virologia , Zika virus/fisiologia , Estudos Longitudinais , Inquéritos e Questionários , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/virologia
6.
Am J Otolaryngol ; 45(5): 104417, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39059173

RESUMO

OBJECTIVES: Evaluate pediatric auditory brainstem response (ABR) findings in children with Autism Spectrum Disorder (ASD) after the 2013 DSM-5 update. STUDY DESIGN: This was an IRB-approved, six-year retrospective chart review evaluating ABR results from pediatric patients with speech delay. Diagnosis of ASD and other neurodevelopmental abnormalities were collected for patient stratification. METHODS: From 2017 to 2023, 148 pediatric patients with speech delay were identified through diagnosis of speech delay and underwent ABR testing. Patients were then separated into two groups: Neurotypical (N = 79) and ASD (N = 69). ABR results were obtained through chart review and waveform and interpeak latency (IPL) results were recorded. Differences in waveform and IPL results were determined via Pearson's chi-square test, with multivariate analysis accounting for race, sex, and age. RESULTS: 28 patients with ASD (40.6 %) had at least one waveform/IPL prolongation. Analysis showed an increased incidence of waveform III (p = 0.028) and IPL III-V (p = 0.03) prolongation in the ASD group compared to their neurotypical counterparts. Waveform III prolongation was noted more in females with ASD (p = 0.001) than in males. No statistically significant difference when comparing race and age was found, except in the 2-3 age range (p = 0.003). CONCLUSIONS: There were higher percentages of prolongation for all waveforms and IPLs in the ASD group versus neurotypical, though not as high as previously reported. Race and age did not appear to be factors in ABR findings though more data is needed to make clinical associations.


Assuntos
Transtorno do Espectro Autista , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Masculino , Feminino , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/diagnóstico , Estudos Retrospectivos , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Pré-Escolar , Criança , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico
7.
Autism Res ; 17(10): 1994-2003, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38828606

RESUMO

To examine predictors and growth in language for verbal autistic and non-autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non-autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non-autistic and autistic children with low language had lower mean expressive language scores than the non-autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Desenvolvimento da Linguagem , Humanos , Masculino , Feminino , Pré-Escolar , Criança , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtorno Autístico/fisiopatologia , Testes de Linguagem/estatística & dados numéricos
8.
Res Dev Disabil ; 151: 104781, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38908111

RESUMO

BACKGROUND: Narrative ability is crucial for social participation in everyday and school life but involves different language abilities such as vocabulary and morpho-syntax. This is particularly difficult for individuals who display both language and cognitive impairments. Previous research has identified productive vocabulary as a possible key factor for narrative performance in individuals with Down syndrome. Considering a close connection between lexical and morpho-syntactic performance within language acquisition and the distinct impairments that individuals with Down syndrome display concerning their morpho-syntactic skills, the nature of a relation between vocabulary and narrative skills under the influence of grammatical deficits requires further investigation. METHODS: Narrations were obtained from 28 children and adolescents with Down syndrome (aged 10;0-20;1) using a non-verbal picture book. Narrative abilities were rated using the Narrative Scoring Scheme across seven narrative aspects (including macro- and microstructure). Vocabulary analyses and morpho-lexical context analyses including verb and conjunction enumerations, evaluation of verb position and MLU were conducted. Findings from the transcript analysis have been supplemented with data from standardized language measures evaluating expressive lexical and morpho-syntactic development. A multiple regression analysis was conducted to identify significant predictors for narrative outcome in the participants with Down syndrome. RESULTS: Lexical analyses revealed a high heterogeneity in production of subordinating conjunctions as a link between lexical and morpho-syntactic abilities. Comparisons of standardized and narrative data demonstrated differences in subordinate clause production depending on the elicitation setting. A multiple regression analysis identified the number of different verbs in the narrative task as the most significant predictor for narrative performance in individuals with Down syndrome. DISCUSSION AND IMPLICATIONS: The findings of this study contribute to the knowledge regarding factors that influence narrative performance in individuals with language impairment. A differentiated verb lexicon can be identified as the key ability for reaching advanced narrative skills in participants with Down syndrome. These findings are of clinical relevance for therapeutic and educational support and contribute to an understanding of the relation between strengths in vocabulary and morpho-syntactic weaknesses in individuals with Down syndrome within communicative participation.


Assuntos
Síndrome de Down , Narração , Vocabulário , Humanos , Síndrome de Down/psicologia , Síndrome de Down/fisiopatologia , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Transtornos do Desenvolvimento da Linguagem/psicologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Testes de Linguagem , Linguística
9.
J Neurosci ; 44(22)2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38589232

RESUMO

In developmental language disorder (DLD), learning to comprehend and express oneself with spoken language is impaired, but the reason for this remains unknown. Using millisecond-scale magnetoencephalography recordings combined with machine learning models, we investigated whether the possible neural basis of this disruption lies in poor cortical tracking of speech. The stimuli were common spoken Finnish words (e.g., dog, car, hammer) and sounds with corresponding meanings (e.g., dog bark, car engine, hammering). In both children with DLD (10 boys and 7 girls) and typically developing (TD) control children (14 boys and 3 girls), aged 10-15 years, the cortical activation to spoken words was best modeled as time-locked to the unfolding speech input at ∼100 ms latency between sound and cortical activation. Amplitude envelope (amplitude changes) and spectrogram (detailed time-varying spectral content) of the spoken words, but not other sounds, were very successfully decoded based on time-locked brain responses in bilateral temporal areas; based on the cortical responses, the models could tell at ∼75-85% accuracy which of the two sounds had been presented to the participant. However, the cortical representation of the amplitude envelope information was poorer in children with DLD compared with TD children at longer latencies (at ∼200-300 ms lag). We interpret this effect as reflecting poorer retention of acoustic-phonetic information in short-term memory. This impaired tracking could potentially affect the processing and learning of words as well as continuous speech. The present results offer an explanation for the problems in language comprehension and acquisition in DLD.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Magnetoencefalografia , Percepção da Fala , Humanos , Masculino , Feminino , Criança , Adolescente , Magnetoencefalografia/métodos , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Percepção da Fala/fisiologia , Córtex Cerebral/fisiopatologia , Estimulação Acústica/métodos , Fala/fisiologia
10.
Res Dev Disabil ; 149: 104731, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38663332

RESUMO

Children with developmental language disorder (DLD) have a high rate of co-occurring reading difficulties. The current study aims to (i) examine which factors within the Active View of Reading (AVR; Duke & Cartwright, 2021) apply to individuals with DLD and (ii) investigate other possible factors that relate to reading comprehension ability in individuals with DLD, outside the components in the AVR. Electronic database search and journal hand-search yielded 5058 studies published before March 2022 related to reading comprehension in children with DLD. 4802 articles were excluded during abstract screening, yielding 256 studies eligible for full-text review. Following full-text review, 44 studies were included and further coded for demographics, language of assessment, description of reported disabilities, behavioral assessment, and reading comprehension assessment. While the results aligned with the AVR model, three additional factors were identified as significantly relating to reading comprehension abilities in children with DLD: expressive language (oral and written), question types of reading assessment, and language disorder history. Specifically, expressive language was positively associated with reading comprehension ability, while resolved DLD showed higher reading comprehension abilities than persistent DLD. Furthermore, children with DLD may face additional difficulties in comprehending inference-based questions. This study provides factors for researchers, educators, and clinical professionals to consider when evaluating the reading comprehension of individuals with DLD. Future research should further explore the relative importance of factors of the AVR to reading comprehension outcomes throughout development.


Assuntos
Compreensão , Transtornos do Desenvolvimento da Linguagem , Leitura , Humanos , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Criança , Dislexia/fisiopatologia , Dislexia/psicologia
11.
Nat Hum Behav ; 8(5): 962-975, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38491094

RESUMO

Developmental language disorder (DLD) is a common neurodevelopmental disorder with adverse impacts that continue into adulthood. However, its neural bases remain unclear. Here we address this gap by systematically identifying and quantitatively synthesizing neuroanatomical studies of DLD using co-localization likelihood estimation, a recently developed neuroanatomical meta-analytic technique. Analyses of structural brain data (22 peer-reviewed papers, 577 participants) revealed highly consistent anomalies only in the basal ganglia (100% of participant groups in which this structure was examined, weighted by group sample sizes; 99.8% permutation-based likelihood the anomaly clustering was not due to chance). These anomalies were localized specifically to the anterior neostriatum (again 100% weighted proportion and 99.8% likelihood). As expected given the task dependence of activation, functional neuroimaging data (11 peer-reviewed papers, 414 participants) yielded less consistency, though anomalies again occurred primarily in the basal ganglia (79.0% and 95.1%). Multiple sensitivity analyses indicated that the patterns were robust. The meta-analyses elucidate the neuroanatomical signature of DLD, and implicate the basal ganglia in particular. The findings support the procedural circuit deficit hypothesis of DLD, have basic research and translational implications for the disorder, and advance our understanding of the neuroanatomy of language.


Assuntos
Gânglios da Base , Transtornos do Desenvolvimento da Linguagem , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico por imagem , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Gânglios da Base/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Neuroimagem Funcional , Neuroanatomia , Neostriado/diagnóstico por imagem , Neostriado/fisiopatologia , Neostriado/patologia
12.
Dev Sci ; 27(4): e13492, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38553823

RESUMO

This paper presents rational inattention as a new, transdiagnostic theory of information seeking in neurodevelopmental conditions that have uneven cognitive and socio-emotional profiles, including developmental language disorder (DLD), dyslexia, dyscalculia and autism. Rational inattention holds that the optimal solution to minimizing epistemic uncertainty is to avoid imprecise information sources. The key theoretical contribution of this report is to endogenize imprecision, making it a function of the primary neurocognitive difficulties that have been invoked to explain neurodivergent phenotypes, including deficits in auditory perception, working memory, procedural learning and the social brain network. We argue that disengagement with information sources with low endogenous precision (e.g. speech in DLD, orthography-phonology mappings in dyslexia, numeric stimuli in dyscalculia and social signals in autism) constitutes resource-rational behaviour. We demonstrate the strength of this account in a series of computational simulations. In experiment 1, we simulate information seeking in artificial agents mimicking an array of neurodivergent phenotypes, which optimally explore a complex learning environment containing speech, text, numeric stimuli and social cues. In experiment 2, we simulate optimal information seeking in a cross-modal dual-task paradigm and qualitatively replicate empirical data from children with and without DLD. Across experiments, simulated agents' only aim was to maximally reduce epistemic uncertainty, with no difference in reward across information sources. We show that rational inattention emerges naturally in specific neurodivergent phenotypes as a function of low endogenous precision. For instance, an agent mimicking the DLD phenotype disengages with speech (and preferentially engages with alternative precise information sources) because endogenous imprecision renders speech not conducive to information gain. Because engagement is necessary for learning, simulation demonstrates how optimal information seeking may paradoxically contribute negatively to an already delayed learning trajectory in neurodivergent children. RESEARCH HIGHLIGHTS: We present the first comprehensive theory of information seeking in neurodivergent children to date, centred on the notion of rational inattention. We demonstrate the strength of this account in a series of computational simulations involving artificial agents mimicking specific neurodivergent phenotypes that optimally explore a complex learning environment containing speech, text, numeric stimuli, and social cues. We show how optimal information seeking may, paradoxically, contribute negatively to an already delayed learning trajectory in neurodivergent children. This report advances our understanding of the factors shaping short-term decision making and long-term learning in neurodivergent children.


Assuntos
Atenção , Humanos , Atenção/fisiologia , Comportamento de Busca de Informação/fisiologia , Aprendizagem/fisiologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Simulação por Computador , Cognição/fisiologia
13.
Am J Med Genet A ; 194(7): e63559, 2024 07.
Artigo em Inglês | MEDLINE | ID: mdl-38421105

RESUMO

The disconnected (disco)-interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase-associated protein 1 (DMAP1) binding domain, Acyl-CoA synthetase domain and AMP-binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco-interacting protein 2 homolog A (DIP2A), Disco-interacting protein 2 homolog B (DIP2B), and Disco-interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss-of-function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss-of-function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10-24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss-of-function variants in DIP2C with a neurocognitive phenotype.


Assuntos
Haploinsuficiência , Transtornos do Desenvolvimento da Linguagem , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Predisposição Genética para Doença , Haploinsuficiência/genética , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/patologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Fenótipo , Proteínas de Neoplasias/genética
14.
Brain Dev ; 44(4): 271-280, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34974949

RESUMO

INTRODUCTION: Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented. MATERIALS AND METHODS: This was a retrospective cohort of CCDS patients seen over six-years. Diagnosis was based either on low creatine peak on proton magnetic resonance spectroscopy (MRS) and/or genetic evaluation. RESULTS: Thirteen patients were eligible [8 creatine transporter deficiency (CTD), 4 guanidinoacetate methyltransferase (GAMT) deficiency and 1 could not be classified]. The mean (±SD) age at diagnosis was 7.2(±5.0) years. Clinical manifestations included intellectual disability (ID) with significant expressive speech delay in all. Most had significant behavior issues (8/13) and/or autism (8/13). All had history of convulsive seizures (11/13 had epilepsy; 2 patients only had febrile seizures) and 2/13 had movement disorder. Constipation was the commonest non-neurological manifestation (5/13 patients). Cranial MRI was normal in all CTD patients but showed globus pallidus hyperintensity in all four with GAMT deficiency. MRS performed in 11/13 patients, revealed abnormally low creatine peak. A causative genetic variant (novel mutation in nine) was identified in 12 patients. Three GAMT deficiency and one CTD patient reported neurodevelopmental improvement and good seizure control after creatine supplementation. CONCLUSION: Intellectual disability, disproportionate speech delay, autism, and epilepsy, were common in our CCDS patients. A normal structural neuroimaging with easily controlled febrile and/or afebrile seizures differentiated CTD from GAMT deficiency patients who had abnormal neuroimaging and often difficult to control epilepsy and movement disorder.


Assuntos
Encefalopatias Metabólicas Congênitas/diagnóstico , Creatina/deficiência , Guanidinoacetato N-Metiltransferase/deficiência , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Transtornos dos Movimentos/congênito , Transtornos do Neurodesenvolvimento/diagnóstico , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/deficiência , Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/genética , Encefalopatias Metabólicas Congênitas/fisiopatologia , Criança , Pré-Escolar , Creatina/genética , Feminino , Seguimentos , Guanidinoacetato N-Metiltransferase/genética , Humanos , Índia , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/complicações , Deficiência Intelectual Ligada ao Cromossomo X/genética , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Transtornos dos Movimentos/complicações , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/fisiopatologia , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/genética , Estudos Retrospectivos
15.
J Abnorm Psychol ; 130(3): 286-296, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33856819

RESUMO

Being a late talker constitutes a risk factor for later neurodevelopmental disorders; however, its neurobiological basis remains unexplored. We aimed to determine the unique and mutual correlates of late talking and developmental dyslexia on brain structure and behavioral outcomes in a large sample of 8- to 10-year-old children in a between-groups design (N = 120). Brain structure was examined using voxel-based morphometry (to measure gray matter volume) and surface-based morphometry (to measure gray matter volume, cortical thickness, surface area, and curvature of the cortex). Behaviorally, late talking and dyslexia are independently connected to language and literacy skills, and late talkers have difficulties in grammar, phonological awareness, and reading accuracy. Children with dyslexia show impairments in all of the above, as well as in vocabulary, spelling, reading speed, and rapid automatized naming. Neuroanatomically, dyslexia is related to lower total intracranial volume and total surface area. Late talking is related to reduced cortical thickness in the left posterior cingulate gyrus and the right superior temporal gyrus, which are structures belonging to the dorsal speech articulatory-phonetic perception system. Finally, a cumulative effect of late talking and dyslexia was found on the left fusiform gray matter volume. This might explain inconsistencies in previous neuroanatomical studies of dyslexia. (PsycInfo Database Record (c) 2021 APA, all rights reserved).


Assuntos
Encéfalo/anatomia & histologia , Dislexia/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Criança , Feminino , Substância Cinzenta/anatomia & histologia , Humanos , Masculino , Tamanho do Órgão , Tempo
16.
Lang Speech Hear Serv Sch ; 52(2): 449-466, 2021 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-33826402

RESUMO

Purpose The nature of the relationship between memory and sentence comprehension in school-age children with developmental language disorder (DLD) has been unclear. We present a novel perspective that highlights the relational influences of fluid intelligence, controlled attention, working memory (WM), and long-term memory (LTM) on sentence comprehension in children with and without DLD. This perspective has new and important implications for theory, assessment, and intervention. Method We review a large-scale study of children with and without DLD that focused on the connections between cognition, memory, and sentence comprehension. We also summarize a new model of these relationships. Results Our new model suggests that WM serves as a conduit through which syntactic knowledge in LTM, controlled attention, and general pattern recognition indirectly influence sentence comprehension in both children with DLD and typically developing children. For typically developing children, language-based LTM and fluid intelligence indirectly influence sentence comprehension. However, for children with DLD, controlled attention plays a larger indirect role. Conclusions WM plays a key role in children's ability to apply their syntactic knowledge when comprehending canonical and noncanonical sentences. Our new model has important implications for the assessment of sentence comprehension and for the treatment of larger sentence comprehension deficits.


Assuntos
Cognição , Compreensão , Inteligência , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Memória de Curto Prazo/fisiologia , Adolescente , Atenção , Criança , Pré-Escolar , Humanos , Lactente , Conhecimento , Idioma , Masculino , Projetos de Pesquisa , Instituições Acadêmicas
17.
Am J Med Genet A ; 185(5): 1366-1378, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33522091

RESUMO

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.


Assuntos
Montagem e Desmontagem da Cromatina/genética , Epilepsia/genética , Microcefalia/genética , Transtornos do Neurodesenvolvimento/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Deleção Cromossômica , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/fisiopatologia , Fácies , Feminino , Haploinsuficiência/genética , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Microcefalia/fisiopatologia , Pessoa de Meia-Idade , Transtornos do Neurodesenvolvimento/fisiopatologia , Fenótipo , Fatores de Transcrição/genética , Adulto Jovem
18.
Lang Speech Hear Serv Sch ; 52(2): 497-511, 2021 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-33524269

RESUMO

Purpose The purpose of this study was to find morphological markers with good diagnostic accuracy to identify developmental language disorders (DLD) in Spanish-English bilingual children. Method The participants in this study included 66 Spanish-English bilingual children between the ages of 4;0 and 6;11 (years;months) with (n = 33) and without DLD (n = 33). We employed a comprehensive production task in Spanish to elicit morphological structures that have been previously found to be problematic for Spanish-speaking children with DLD. These structures included elements of nominal morphology (articles, direct object pronouns, adjectives, and plurals) and verbal morphology (verbs and the subjunctive mood). Logistic regression was used in this study to find a set of grammatical structures that most accurately predicted group membership. Results Spanish-English bilingual children with and without DLD significantly differed from each other in their accurate production of articles, clitics, adjectives, verbs, and the subjunctive mood. Clitics, verbs, and the subjunctive mood in isolation had adequate diagnostic accuracy. A combination of verb and subjective mood accuracy best predicted group membership in this study (sensitivity of 85% and specificity of 91%). Conclusion In addition to clitics, verbs, and the subjunctive mood, both elements of verbal morphology should be considered grammatical markers of DLD in Spanish-English bilingual children. Supplemental Material https://doi.org/10.23641/asha.13641320.


Assuntos
Linguagem Infantil , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Multilinguismo , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Idioma , Testes de Linguagem , Linguística , Masculino , Análise de Regressão
19.
Lang Speech Hear Serv Sch ; 52(2): 467-484, 2021 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-33561352

RESUMO

Purpose The aims of the study were to explore responses of children with developmental language disorder (DLD) to rich vocabulary instruction and to identify potential factors that contribute to outcomes. Method Children with DLD participated in a language intervention embedded within a science camp. Using parent and clinician reports, standardized tests, probes, notes, and video, we derived descriptions of seven of the campers who received a vocabulary intervention that incorporated principles of rich instruction. We present them here as a case series. Results Five cases responded to the intervention with modest gains in Tier 2 science vocabulary and science knowledge. One case demonstrated no response, and another was unable to complete the intervention. The latter two cases presented with triple risks: DLD, executive function deficits, and stressors associated with poverty. In comparison, the best responder also lived in poverty and had DLD, but he had intact executive function, strengths in extant vocabulary, stronger knowledge of science, better engagement in the science and language intervention activities, and was older. Other factors that seemed to contribute to outcomes included the complexity of the word forms and dosage. Conclusions Translating research on rich instruction to clinical practice is challenging. This case series motivated hypotheses about the nature of the challenge and what to do about it, the primary one being that the modest success of rich vocabulary instruction for children with DLD is not a limitation of the approach itself but rather a reflection of the difficulty of delivering the intervention while tailoring the targets, approach, and dosage to the needs of individual children with DLD. Supplemental Material https://doi.org/10.23641/asha.13667699.


Assuntos
Linguagem Infantil , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/terapia , Testes de Linguagem , Vocabulário , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Modelos Educacionais , Pobreza , Reprodutibilidade dos Testes , Inquéritos e Questionários
20.
J Pediatr ; 233: 90-97.e2, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33549551

RESUMO

OBJECTIVE: To determine whether infants who have regulatory problems (eg, sleeping, crying, and feeding problems) at 1 year of age are at increased risk of experiencing language difficulties at ages 5 and 11 years, compared with settled infants. STUDY DESIGN: Parent survey and child assessment data (n = 1131) were drawn from a longitudinal community cohort study. Latent Class Analysis identified 5 profiles of infant regulation including those who were settled (37%), had tantrums (21%), had sleep problems (25%), were moderately unsettled (13%), and severely unsettled (3%) at 12 months of age. Adjusted regression analyses examined associations between infant regulatory profiles and language ability (Clinical Evaluation of Language Fundamentals-fourth edition) at ages 5 and 11 years. RESULTS: Infants who were moderately unsettled had lower language scores at age 5 (adjusted mean difference, -3.89; 95% CI, -6.92 to -0.86) and were more likely to have language difficulties (aOR, 2.71; 95% CI, 1.28-5.75), than infants who were settled. Infants who were severely unsettled at 12 months of age, had lower language scores at ages 5 (adjusted mean difference, -7.71; 95% CI, -13.07 to -2.36) and 11 (adjusted mean difference, -6.50; 95% CI, -11.60 to -1.39), than infants who were settled. Severely unsettled infants were 5 times more likely to have language difficulties at age 5 than their settled counterparts (aOR, 5.01; 95% CI, 1.72-14.63). CONCLUSIONS: Children at 1 year of age with multiple regulatory problems are at an increased risk for poorer language skills at ages 5 and 11 years.


Assuntos
Choro/fisiologia , Comportamento do Lactente/fisiologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Sono-Vigília/fisiopatologia , Criança , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Desenvolvimento da Linguagem , Estudos Longitudinais , Masculino
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