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Language and learning disorders such as reading disability and language impairment are recognized to be subject to substantial genetic influences, but few causal mutations have been identified in the coding regions of candidate genes. Association analyses of single nucleotide polymorphisms have suggested the involvement of regulatory regions of these genes, and a few mutations affecting gene expression levels have been identified, indicating that the quantity rather than the quality of the gene product may be most relevant for these disorders. In addition, several of the candidate genes appear to be involved in neuronal migration, confirming the importance of early developmental processes. Accordingly, alterations in epigenetic processes such as DNA methylation and histone modification are likely to be important in the causes of language and learning disorders based on their functions in gene regulation. Epigenetic processes direct the differentiation of cells in early development when neurological pathways are set down, and mutations in genes involved in epigenetic regulation are known to cause cognitive disorders in humans. Epigenetic processes also regulate the changes in gene expression in response to learning, and alterations in histone modification are associated with learning and memory deficits in animals. Genetic defects in histone modification have been reversed in animals through therapeutic interventions resulting in rescue of these deficits, making it particularly important to investigate their potential contribution to learning disorders in humans.
Backgrounds: The relationship between linguistic difficulties and cognitive impairments in children with developmental language disorders (DLDs) is receiving growing interest in international research. Executive functions (EF) appear to be weak in these children. The current investigation aims at exploring the relationship between difficulties in two components of EF (i.e., updating and inhibition) and the linguistic and narrative skills of 16 DLD preschoolers matched with 24 typically developing peers. Methods: Updating skills were tested by administering the forward and backward digit recall subtests of the Wechsler Scales, while children's inhibition abilities were assessed by completion of Developmental Neuropsychological Assessment (NEPSY-II) inhibition tasks. Information on the linguistic skills of the participants was collected through a set of subtests included in the Batteria per la Valutazione del Linguaggio in bambini dai 4 ai 12 anni (Batteria per la Valutazione del Linguaggio; BVL_4-12), assessing articulatory and phonological discrimination skills, lexical production/comprehension, grammatical production/comprehension, and narrative production skills. Results: Findings revealed that DLD children performed significantly lower than their peers on both updating and inhibitory tasks. Linguistic difficulties were found in the DLD group on articulatory/phonological skills, grammatical production/comprehension, and lexical informativeness on narrative production. Measures of EF correlated with linguistic and narrative measures. Conclusion: The current study confirms a significant association between DLD's performances on EF and displayed linguistic skills, suggesting the need to include the assessment of executive functions to target early intervention rehabilitation programs for children with DLDs.
Impaired language is a prominent behavioral marker of autism spectrum disorders (ASD), but its neurobiological underpinnings are incompletely understood. We studied letter and category fluency in 14 high functioning ASD individuals and 14 age-matched controls. Each fluency condition was compared to self-paced repetition of the word "nothing." Responses were recorded to monitor performance. In letter fluency, the ASD group had significantly greater activation than controls in the right frontal and right superior temporal lobes. Between-group differences were not observed in left prefrontal cortex. By examining functional asymmetry in frontal cortex, we found that the ASD group had significantly reduced lateralization of activation patterns in letter fluency compared to the controls. In category fluency, no between-group differences in lateralization were found, in light of greater bilateral activation in controls. These findings indicate reduced hemispheric differentiation for certain verbal fluency tasks in ASD, consistent with some previous evidence of atypical functional and structural asymmetries in autism. Abnormal functional organization may contribute to the language impairment seen in ASD.
In his first description of Autism Spectrum Disorders (ASD), Kanner emphasized emotional impairments by characterizing children with ASD as indifferent to other people, self-absorbed, emotionally cold, distanced, and retracted. Thereafter, emotional impairments became regarded as part of the social impairments of ASD, and research mostly focused on understanding how individuals with ASD recognize visual expressions of emotions from faces and body postures. However, it still remains unclear how emotions are processed outside of the visual domain. This systematic review aims to fill this gap by focusing on impairments of emotional language processing in ASD. We systematically searched PubMed for papers published between 1990 and 2013 using standardized search terms. Studies show that people with ASD are able to correctly classify emotional language stimuli as emotionally positive or negative. However, processing of emotional language stimuli in ASD is associated with atypical patterns of attention and memory performance, as well as abnormal physiological and neural activity. Particularly, younger children with ASD have difficulties in acquiring and developing emotional concepts, and avoid using these in discourse. These emotional language impairments were not consistently associated with age, IQ, or level of development of language skills. We discuss how emotional language impairments fit with existing cognitive theories of ASD, such as central coherence, executive dysfunction, and weak Theory of Mind. We conclude that emotional impairments in ASD may be broader than just a mere consequence of social impairments, and should receive more attention in future research.
In this review, we aimed to evaluate the association between language proficiency (LP) and the prevalence and severity of mental disorders in migrants. Secondarily, we aimed to consider whether sociodemographic and migration-related factors may affect the correlation between LP and mental disorders.
Disorders of speech and language arise out of a complex interaction of genetic, environmental, and neural factors. Little is understood about the neural bases of these disorders. Here we systematically reviewed neuroimaging findings in Speech disorders (SD) and Language disorders (LD) over the last five years (2008-2013; 10 articles). In participants with SD, structural and functional anomalies in the left supramarginal gyrus suggest a possible deficit in sensory feedback or integration. In LD, cortical and subcortical anomalies were reported in a widespread language network, with little consistency across studies except in the superior temporal gyri. In summary, both functional and structural anomalies are associated with LD and SD, including greater activity and volumes relative to controls. The variability in neuroimaging approach and heterogeneity within and across participant samples restricts our full understanding of the neurobiology of these conditions- reducing the potential for devising novel interventions targeted at the underlying pathology.
Introduction Childhood is a critical period for language development and maturation of the central auditory system. Unilateral hearing loss (UHL) is considered a minimal impairment, and little is discussed regarding its impact on the development of language, communication, and school performance. Objectives A bibliographical survey of scientific articles published from 2001 to 2011 was performed to verify which language disorders can occur in children with UHL and which tests were performed to identify them. Data Synthesis Three databases were used: PubMed, Lilacs, and The Cochrane Library. As inclusion criteria, the articles should have samples of children with UHL, without other impairments, aged between 3 months and 12 years, and reference to language tests applied in this population. Out of 236 papers initially selected, only 5 met the inclusion criteria. In the articles studied, 12 tests were used for language assessment in children with UHL, out of which 9 were directed toward expressive language, and 3 toward receptive language. Children with UHL demonstrated lower scores on receptive and expressive language tests when compared with children with normal hearing. However, they obtained better scores on expressive language tests than children with bilateral hearing loss. Conclusion The findings of this survey showed that only a small number of studies used language tests in children with UHL or addressed language alterations resulting from this type of impairment. Therefore we emphasize the importance of investments in new studies on this subject to provide better explanations related to language difficulties presented by children with UHL.
The most severe problems in language manifest as difficulties in comprehending oral language. These difficulties are persistent and expose individuals to several risk factors. There is a lack of intervention research in the area of oral language comprehension, and no reviews have focused solely on oral language comprehension interventions in young children. The aim of this review was to identify interventions targeting oral language comprehension in children 8 years or younger with language disorders or difficulties. The review also examined the possible intervention foci, efficacy, and level of evidence of these interventions.
This study investigated the profile of language abilities in a sample of high-achieving English speaking adults with developmental disorders. Ninety-seven adult participants were recruited: 49 with a dyslexia diagnosis (dyslexic group), 16 with a diagnosis of a different developmental disorder including dyspraxia, autism and SpLD (non-dyslexic developmental disorder group) and 32 with no diagnosis (non-disordered group). Dyslexic and non-dyslexic developmental disorder groups demonstrated similar impairments across measures of word reading, working memory, processing speed and oral language. Dyslexic participants showed the usual pattern of impaired phonological skills but spared non-verbal intelligence and vocabulary. There were also some suggestions of impaired structural oral language skills in this group. A data-driven clustering analysis found that diagnosis was not a reliable predictor of similarity between cases, with diagnostic categories split between data-driven clusters. Overall, the findings indicate that high-achieving adults with developmental disorders do demonstrate impairments that are likely to affect success in higher education, but that support needs should be assessed on a case-by-case basis, rather than according to diagnostic label.
Families are the primary caregivers and the main source of support for their children. Family resilience involves coping and adapting to stressful situations. This study explored the impact of previous treatment experience on parental resilience, in families, as well as the relationship between family history of communication and language disorders and parental stress. These variables were assessed through the Resilience Scale and the Parental Stress Index in parents of 220 children aged 3 to 6 years attending mainstream schools and early intervention (EI) centers in Caceres (Spain). The results revealed significant differences in resilience between parents who had received previous treatments and those who had not (p = 0.11). Furthermore, a significant association was found between having no family history of communication and language disorders and the Dysfunctional Parent-Child Interaction subscale from the Parental Stress Index (U = -2.079, p = 0.038). These findings highlight the relevance of previous experience in EI to build family resilience as resilient parents are more likely to be actively involved in their children's education and create a supportive environment. Thus, promoting resilience in educational settings may have positive effects on children's and families' quality of life during the EI process.
Recent advances in natural language processing (NLP) have heightened the interest of the medical community in its application to health care in general, in particular to stroke, a medical emergency of great impact. In this rapidly evolving context, it is necessary to learn and understand the experience already accumulated by the medical and scientific community.
Developmental language disorder (DLD) is frequently associated with other developmental diseases and may lead to a handicap through adolescence or adulthood. The aim of our retrospective study was to characterize DLD subgroups, their etiological factors and clinical comorbidities, and the role of epileptiform discharges in wake and sleep recordings. Fifty-five children (42 male, mean age 6.2 ± 1.4 years, range 4-9 years) were included in the present study and underwent phoniatric, psychologic, neurologic, as well as wake and nocturnal electroencephalography (EEG) or polysomnography (PSG) examinations. A receptive form of DLD was determined in 34 children (63.0%), and an expressive form was found in 20 children (37.0%). Poor cooperation in one child did not permit exact classification. DLD children with the receptive form had significantly lower mean phonemic hearing (79.1% ± 10.9) in comparison with those with the expressive form (89.7% ± 6.2, p < 0.001). A high amount of perinatal risk factors was found in both groups (50.9%) as well as comorbid developmental diseases. Developmental motor coordination disorder was diagnosed in 33 children (61.1%), and attention deficit or hyperactivity disorder was diagnosed in 39 children (70.9%). Almost one half of DLD children (49.1%) showed abnormalities on the wake EEG; epileptiform discharges were found in 20 children (36.4%). Nocturnal EEG and PSG recordings showed enhanced epileptiform discharges, and they were found in 30 children (55.6%, p = 0.01). The wake EEG showed focal discharges predominantly in the temporal or temporo-parieto-occipital regions bilaterally, while in the sleep recordings, focal activity was shifted to the fronto-temporo-central areas (p < 0.001). Almost all epileptiform discharges appeared in non-rapid eye movement (NREM) sleep. A close connection was found between DLD and perinatal risk factors, as well as neurodevelopmental disorders. Epileptiform discharges showed an enhancement in nocturnal sleep, and the distribution of focal discharges changed.
Child language development and disorder in Iran has been the focus for research by different professions, the most prominent ones among them being psychologists and speech therapists. Epidemiological studies indicate that between 8% and 12% of children show noticeable signs of language impairment in the preschool years; however, research on child language in Iran is not extensive compared to studies in English speaking countries, which are currently the basis of clinical decision-making in Iran. Consequently, there is no information about the prevalence of child language disorders in Iranian population. This review summarizes Iranian studies on child language development and disorder in the preschool years and aims to systematically find the most studied topics in the field of normal development, the assessment and diagnosis of language impairments as well as exploring the current gaps within the body of literature. Three main Iranian academic websites of indexed articles along with four other nonIranian databases were scrutinized for all relevant articles according to the inclusion criteria: Iranian studies within the field of Persian language development and disorders in preschool children published up to December 2013. They are classified according to the hierarchy of evidence and weighed against the criteria of critical appraisal of study types. As this is a type of nonintervention systematic review, the preferred reporting items for systematic reviews and meta-analyses is modified to be more compatible to the designs of eligible studies, including descriptive studies, test-developing and/or diagnostic studies. Several limitations made the process of searching and retrieving problematic; e.g., lack of unified keywords and incompatibility of Persian typing structure embedded in Iranian search engines. Overall, eligible studies met the criteria up to the third level of the hierarchy of evidence that shows the necessity of conducting studies with higher levels of design and quality.
Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p < 10-8) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural-genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.
Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations.
Tauopathies, including Alzheimer's Disease, are the most frequent neurodegenerative diseases in elderly people and cause various cognitive, behavioural and motor defects, but also progressive language disorders. For communication and social interactions, mice produce ultrasonic vocalization (USV) via expiratory airflow through the larynx. We examined USV of Tau.P301L mice, a mouse model for tauopathy expressing human mutant tau protein and developing cognitive, motor and upper airway defects.
Computerized natural language processing (NLP) allows for objective and sensitive detection of speech disturbance, a hallmark of schizophrenia spectrum disorders (SSD). We explored several methods for characterizing speech changes in SSD (n = 20) compared to healthy control (HC) participants (n = 11) and approached linguistic phenotyping on three levels: individual words, parts-of-speech (POS), and sentence-level coherence. NLP features were compared with a clinical gold standard, the Scale for the Assessment of Thought, Language and Communication (TLC). We utilized Bidirectional Encoder Representations from Transformers (BERT), a state-of-the-art embedding algorithm incorporating bidirectional context. Through the POS approach, we found that SSD used more pronouns but fewer adverbs, adjectives, and determiners (e.g., "the," "a,"). Analysis of individual word usage was notable for more frequent use of first-person singular pronouns among individuals with SSD and first-person plural pronouns among HC. There was a striking increase in incomplete words among SSD. Sentence-level analysis using BERT reflected increased tangentiality among SSD with greater sentence embedding distances. The SSD sample had low speech disturbance on average and there was no difference in group means for TLC scores. However, NLP measures of language disturbance appear to be sensitive to these subclinical differences and showed greater ability to discriminate between HC and SSD than a model based on clinical ratings alone. These intriguing exploratory results from a small sample prompt further inquiry into NLP methods for characterizing language disturbance in SSD and suggest that NLP measures may yield clinically relevant and informative biomarkers.
Inter-professional collaboration (IPC) has been recommended for many years as a means by which the needs of children with developmental language disorders (DLD) can be met at school. However, effective IPC remains difficult to achieve and our knowledge of how to support it is limited. A shared understanding between those involved has been identified as critical to IPC.
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