Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.

Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing.

Mental disorders present a global health concern and have limited treatment options. In today's medical practice, medications such as antidepressants are prescribed not only for depression but also for conditions such as anxiety and attention deficit hyperactivity disorder (ADHD). Therefore, identifying gene targets for specific disorders is important and offers improved precision. In this study, we performed a genetic analysis of six common mental disorders-ADHD, anxiety, depression, delays in mental development, intellectual disabilities (IDs) and speech/language disorder-in the ethnic minority of African Americans (AAs) using whole genome sequencing (WGS). WGS data were generated from blood-derived DNA from 4178 AA individuals, including 1384 patients with the diagnosis of at least one mental disorder. Mutation burden analysis was applied based on rare and deleterious mutations in the AA population between cases and controls, and further analyzed in the context of patients with single mental disorder diagnosis. Certain genes uncovered demonstrated significant P-values in mutation burden analysis. In addition, exclusive recurrences in specific type of disorder were scanned through gene-drug interaction databases to assess for availability of potential medications. We uncovered 15 genes harboring deleterious mutations, including 3-Hydroxy-3-Methylglutaryl-CoA Reductase (HMGCR) and Uronyl 2-Sulfotransferase (UST) for ADHD; Farnesyltransferase, CAAX Box, Beta (FNTB) for anxiety; Xin Actin Binding Repeat Containing 2 (XIRP2), Natriuretic Peptide C (NPPC), Serine/Threonine Kinase 33 (STK33), Pannexin 1 (PANX1) and Neurotensin (NTS) for depression; RUNX Family Transcription Factor 3 (RUNX3), Tachykinin Receptor 1 (TACR1) and NADH:Ubiquinone Oxidoreductase Core Subunit S7 (NDUFS7) for delays in mental development; Hepsin (HPN) for ID and Collagen Type VI Alpha 3 Chain (COL6A3), Damage Specific DNA Binding Protein 1 (DDB1) and NADH:Ubiquinone Oxidoreductase Subunit A11 (NDUFA11) for speech/language disorder. Taken together, we have established critical insights into the development of new precision medicine approaches for mental disorders in AAs.

Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study.

INTRODUCTION/AIMS: Language is frequently affected in patients with sporadic amyotrophic lateral sclerosis (sALS), with reduced performance in naming, syntactic comprehension, grammatical expression, and orthographic processing. However, the language profile of patients with familial type 8 ALS (ALS8), linked to p.P56S VAPB mutation, remains unclear. We investigated language in patients with ALS8 by examining their auditory comprehension and verbal production. METHODS: We included three groups of participants: (1) patients with sALS (n = 20), (2) patients with familial ALS8 (n = 22), and (3) healthy controls (n = 21). The groups were matched for age, sex, and education level. All participants underwent a comprehensive language battery, including the Boston Diagnostic Aphasia Examination, the reduced Token test, letter fluency, categorical fluency (animals), word definition from the Cambridge Semantic Memory Research Battery, and a narrative discourse analysis. Participants also were evaluated using Addenbrooke's Cognitive Exam-Revised Version, the Hospital Anxiety and Depression Scale, and the ALS Functional Rating Scale-Revised. RESULTS: Compared to controls, sALS and ALS8 patients had impaired performance on oral (syntactic and phonological processing) comprehension and inappropriate discourse cohesion. sALS and ALS8 did not differ in any language measure. There was no correlation between language scores and functional and psychiatric scales. DISCUSSION: ALS8 patients exhibit language deficits that are independent of motor features. These findings are consistent with the current evidence suggesting that ALS8 has prominent non-motor features.

Using in vivo functional and structural connectivity to predict chronic stroke aphasia deficits.

Focal brain damage caused by stroke can result in aphasia and advances in cognitive neuroscience suggest that impairment may be associated with network-level disorder rather than just circumscribed cortical damage. Several studies have shown meaningful relationships between brain-behaviour using lesions; however, only a handful of studies have incorporated in vivo structural and functional connectivity. Patients with chronic post-stroke aphasia were assessed with structural (n = 68) and functional (n = 39) MRI to assess whether predicting performance can be improved with multiple modalities and if additional variance can be explained compared to lesion models alone. These neural measurements were used to construct models to predict four key language-cognitive factors: (i) phonology; (ii) semantics; (iii) executive function; and (iv) fluency. Our results showed that each factor (except executive ability) could be significantly related to each neural measurement alone; however, structural and functional connectivity models did not explain additional variance above the lesion models. We did find evidence that the structural and functional predictors may be linked to the core lesion sites. First, the predictive functional connectivity features were found to be located within functional resting-state networks identified in healthy controls, suggesting that the result might reflect functionally specific reorganization (damage to a node within a network can result in disruption to the entire network). Second, predictive structural connectivity features were located within core lesion sites, suggesting that multimodal information may be redundant in prediction modelling. In addition, we observed that the optimum sparsity within the regularized regression models differed for each behavioural component and across different imaging features, suggesting that future studies should consider optimizing hyperparameters related to sparsity per target. Together, the results indicate that the observed network-level disruption was predicted by the lesion alone and does not significantly improve model performance in predicting the profile of language impairment.

One right can make a left: sentence processing in the right hemisphere after perinatal stroke.

When brain regions that are critical for a cognitive function in adulthood are irreversibly damaged at birth, what patterns of plasticity support the successful development of that function in an alternative location? Here we investigate the consistency of language organization in the right hemisphere (RH) after a left hemisphere (LH) perinatal stroke. We analyzed fMRI data collected during an auditory sentence comprehension task on 14 people with large cortical LH perinatal arterial ischemic strokes (left hemisphere perinatal stroke (LHPS) participants) and 11 healthy sibling controls using a "top voxel" approach that allowed us to compare the same number of active voxels across each participant and in each hemisphere for controls. We found (1) LHPS participants consistently recruited the same RH areas that were a mirror-image of typical LH areas, and (2) the RH areas recruited in LHPS participants aligned better with the strongly activated LH areas of the typically developed brains of control participants (when flipped images were compared) than the weakly activated RH areas. Our findings suggest that the successful development of language processing in the RH after a LH perinatal stroke may in part depend on recruiting an arrangement of frontotemporal areas reflective of the typical dominant LH.

Impulsive and compulsive reading comprehension in the prison population.

BACKGROUND: Developmental dyslexia is characterized by reading and writing deficits that persist into adulthood. Dyslexia is strongly associated with academic underachievement, as well as impulsive, compulsive, and criminal behaviors. The aims of this study were to investigate impulsive or compulsive reading comprehension, analyzing the differences in reading errors between two distinct groups -one with Antisocial Personality Disorder (ASPD) and another with Obsessive-Compulsive Personality Disorder (OCPD) and examine their correlation with criminal behavior within a prison population. METHODS: We gathered data from 194 participants: 81 with ASPD and 113 with OCPD from a prison center. Participants took part in interviews to gather data on demographic, criminal, and behavioral data. Additionally, the participants underwent various assessments, including the International Examination for Personality Disorders; Symptom Inventory, and Battery for the Assessment of Reading Processes in Secondary and High School - Revised. RESULTS: Our analysis revealed differences in reading skills between the ASPD and OCPD groups. Specifically, the OCPD group showed poorer performance on lexical selection, semantic categorization, grammar structures, grammatical judgements, and expository comprehension when compared with the ASPD group. Conversely, the OCPD group obtained higher scores on narrative comprehension relative to the ASPD group. CONCLUSIONS: The OCPD group showed slow lexical-phonological coding and phonological activation.

Neurodevelopmental outcomes after prenatal exposure to lamotrigine monotherapy in women with epilepsy: a systematic review and meta-analysis.

BACKGROUND: Lamotrigine has become one of the most commonly prescribed antiseizure medications (ASM) in epileptic women during pregnancy and therefore requires regular updates regarding its safety. The aim of this study was to estimate the association between in utero exposure to lamotrigine monotherapy and the occurrence of neurodevelopmental outcomes. METHODS: All comparative studies assessing the occurrence of neurodevelopmental outcomes after epilepsy-indicated lamotrigine monotherapy exposure during pregnancy were searched. First, references were identified through a snowballing approach, then, through electronic databases (Medline and Embase) from 2015 to June 2022. One investigator evaluated study eligibility and extracted data and a second independent investigator reviewed the meta-analysis (MA). A systematic review and random-effects model approach were performed using a collaborative WEB-based meta-analysis platform (metaPreg.org) with a registered protocol (osf.io/u4gva). RESULTS: Overall, 18 studies were included. For outcomes reported by at least 4 studies, the pooled odds ratios and 95% confidence interval obtained with the number of exposed (N1) and unexposed children (N0) included were: neurodevelopmental disorders as a whole 0.84 [0.66;1.06] (N1 = 5,271; N0 = 22,230); language disorders or delay 1.16 [0.67;2.00] (N1 = 313; N0 = 506); diagnosis or risk of ASD 0.97 [0.61;1.53] (N1 = at least 5,262; N0 = 33,313); diagnosis or risk of ADHD 1.14 [0.75;1.72] (N1 = at least 113; N0 = 11,530) and psychomotor developmental disorders or delay 2.68 [1.29-5.56] (N1 = 163; N0 = 220). The MA of cognitive outcomes included less than 4 studies and retrieved a significant association for infants exposed to lamotrigine younger than 3 years old but not in the older age groups. CONCLUSION: Prenatal exposure to lamotrigine monotherapy is not found to be statistically associated with neurodevelopmental disorders as a whole, language disorders or delay, diagnosis or risk of ASD and diagnosis or risk of ADHD. However, the MA found an increased risk of psychomotor developmental disorders or delay and cognitive developmental delay in less than 3 years old children. Nevertheless, these findings were based exclusively on observational studies presenting biases and on a limited number of included children. More studies should assess neurodevelopmental outcomes in children prenatally exposed to lamotrigine.

Language impairments in seropositive and seronegative autoimmune encephalitis.

BACKGROUND AND OBJECTIVE: Autoimmune encephalitis (AE) is a rare neuroinflammatory disease affecting the central nervous system. To examine language functions in patients with different subsets of AE consisting of seropositive and seronegative groups. METHODS: Fifty-two patients were recruited from neurology departments in Melbourne, Australia, who met clinical criteria for possible AE. Language tests include the Naming Test from the Sydney Language Battery (SydBat), the semantic fluency trial from the Controlled Oral Word Association Test (COWAT), and the Vocabulary and Similarities subtests of the Weschler Abbreviated Scale of Intelligence-Second Edition. The results were standardised with normative data. RESULTS: The mean age of our cohort was 52.5 years old, with the average time from hospital admission to recruitment being 38.41 months. At an aggregate level, none of the mean language test z-scores were below normative data. At the patient level, impairment rates were 18.37% for COWAT (animals), 28.57% for SydBat (naming), 4.65% for Similarities, and 4.55% for Vocabulary. Chi-squared goodness of fit tests indicated that observed performances were significantly below expected performances for the SydBat (naming) test (p < 0.0001) and COWAT (animals) (p = 0.004). DISCUSSION: While, on average, language functions were within normal limits in patients with AE, but a subgroup exhibited lower performance in semantic fluency and visual confrontation naming, with impairment rates below expected norms. To advance understanding of language in chronic AE patients, exploring the impact of seizure burden, antiseizure medication use, and the relationship of language functions with other cognitive functions is crucial.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. METHODS: Here we phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German. RESULTS: Speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, 'th', 'r', 'ch', 'j') were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition. CONCLUSIONS: Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of FOXP2 dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that FOXP2 provides a valuable entry point for examining the neurobiological bases of speech disorder.

Spoken verb learning in children with language disorder.

The current study examined spoken verb learning in elementary school children with language disorder (LD). We aimed to replicate verb learning deficits reported in younger children with LD and to examine whether verb instrumentality, a semantic factor reflecting whether an action requires an instrument (e.g., "to chop" is an instrumental verb), influenced verb learning. The possible facilitating effect of orthographic cues presented during training was also evaluated. In an exploratory analysis, we investigated whether language and reading skills mediated verb learning performance. General language skills and verb learning were assessed in Dutch children with LD and age-matched typically developing controls (n = 25 per group) aged 8 to 12 years (M = 9;9 [years;months], SD = 1;3). Using video animations, children learned 20 nonwords depicting actions comprising 10 instrumental and 10 noninstrumental verbs. Half of the items were trained with orthographic information present. Verb learning was assessed using an animation-word matching and animation naming task. Linear mixed-effects models showed a main effect of group for all verb learning measures, demonstrating that children with LD learned fewer words and at a slower rate than the control group. No effect of verb instrumentality, presence of orthographic information, or the included mediators was found. Our results emphasize the importance of continued vocabulary instruction in elementary school to strengthen verb encoding. Given that our findings are inconsistent with the overall literature showing an orthographic facilitation effect, future studies should investigate whether participants pay attention to the written word form in learning contexts with moving stimuli.

Characterising the social interaction style of autism in young adult males with fragile X syndrome.

BACKGROUND: The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS. METHODS: Participants were 41 males (M age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately 'active' (characterised by a desire to make social approaches) or 'passive' (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles. RESULTS: Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities. CONCLUSIONS: This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.

Low language capacity in childhood: A systematic review of prevalence estimates.

BACKGROUND AND AIMS: Epidemiological studies have provided invaluable insight into the origin and impact of low language skills in childhood and adolescence. However, changing terminology and diagnostic guidelines have contributed to variable estimations of the prevalence of developmental language difficulties. The aim of this review was to profile the extent and variability of low language prevalence estimates through a systematic review of epidemiological literature. METHODS: A systematic review of the empirical research (August 2022) was undertaken to identify studies that aimed to estimate the prevalence of low language skills in children (<18 years). A total of 19 studies published between 1980-2022 met inclusion criteria for review. RESULTS: Studies reported prevalence estimates of low language skills in children between 1 and 16 years. Estimated rates varied from 0.4% to 25.2%. More stable estimations were observed in studies of children aged 5 years and older and those that applied updated diagnostic criteria to performance on standardised assessments of receptive and expressive language. CONCLUSIONS AND IMPLICATIONS: The estimated prevalence of low language skills in childhood varies considerably in the literature. Application of updated diagnostic criteria, including the assessment of functional impact, is critical to inform advocacy efforts and govern social, health and educational policies. WHAT THIS PAPER ADDS: What is already known on the subject Epidemiological research has informed our understanding of the origin and impact of low language capacity in childhood. Childhood language disorder is met with a rich history of evolving terminology and diagnostic guidelines to identify children with low language skills. Inconsistent definitions of and methods to identify low language in children have resulted in variable prevalence estimates in population-based studies. Variability in prevalence estimates impacts advocacy efforts to inform social, health and educational policy for child language disorder. What this study adds A total of 19 studies published at the time of this review aimed to provide estimates of the proportion of children who experience low language skills. Prevalence estimates varied between 0.4% and 25.2%, with more stable estimates reported in studies of older school-age children and those which utilised standardised assessments of both expressive and receptive language. Few studies utilised assessments of functional impact of language difficulties, which is misaligned with updated diagnostic criteria for child language disorder. What are the clinical implications of this work? This review reports substantial variability in estimates of the proportion of children and adolescents who live with low language skills. This variability underscores the importance of applying updated diagnostic criteria to identify the prevalence low language in childhood. Efforts to estimate the prevalence of low language must include measures of functional impact of low language skills. This aligns with clinical recommendations, which call for routine assessment of functional outcomes. To this end, we require a unified understanding of the term 'functional impact' in the context of low language, including the development and evaluation of measures that assess impact across emotional, social and academic domains.

Methodologies for assessing morphosyntactic ability in people with Alzheimer's disease.

BACKGROUND: The detection and description of language impairments in neurodegenerative diseases like Alzheimer's Disease (AD) play an important role in research, clinical diagnosis and intervention. Various methodological protocols have been implemented for the assessment of morphosyntactic abilities in AD; narrative discourse elicitation tasks and structured experimental tasks for production, offline and online structured experimental tasks for comprehension. Very few studies implement and compare different methodological protocols; thus, little is known about the advantages and disadvantages of each methodology. AIMS: To discuss and compare the main behavioral methodological approaches and tasks that have been used in psycholinguistic research to assess different aspects of morphosyntactic production and comprehension in individuals with AD at the word and sentence levels. METHODS: A narrative review was conducted through searches in the scientific databases Google Scholar, Scopus, Science Direct, MITCogNet, PubMed. Only studies written in English, that reported quantitative data and were published in peer-reviewed journals were considered with respect to their methodological protocol. Moreover, we considered studies that reported research on all stages of the disease and we included only studies that also reported results of a healthy control group. Studies that implemented standardized assessment tools were not considered in this review. OUTCOMES & RESULTS: The main narrative discourse elicitation tasks implemented for the assessment of morphosyntactic production include interviews, picture-description and story narration, whereas the main structured experimental tasks include sentence completion, constrained sentence production, sentence repetition and naming. Morphosyntactic comprehension in AD has been assessed with the use of structured experimental tasks, both offline (sentence-picture matching, grammaticality judgment) and online (cross-modal naming,speeded sentence acceptability judgment, auditory moving window, word detection, reading). For each task we considered studies that reported results from different morphosyntactic structures and phenomena in as many different languages as possible. CONCLUSIONS & IMPLICATIONS: Our review revealed strengths and weaknesses of these methods but also directions for future research. Narrative discourse elicitation tasks as well as structured experimental tasks have been used in a variety of languages, and have uncovered preserved morphosyntactic production but also deficits in people with AD. A combination of narrative discourse elicitation and structured production tasks for the assessment of the same morphosyntactic structure has been rarely used. Regarding comprehension, offline tasks have been implemented in various languages, whereas online tasks have been mainly used in English. Offline and online experimental paradigms have often produced contradictory results even within the same study. The discrepancy between the two paradigms has been attributed to the different working memory demands they impose to the comprehender or to the different parsing processes they tap. Strengths and shortcomings of each methodology are summarized in the paper, and comparisons between different tasks are attempted when this is possible. Thus, the paper may serve as a methodological guide for the study of morphosyntax in AD and possibly in other neurodegenerative diseases. WHAT THIS PAPER ADDS: What is already known on this subject For the assessment of morphosyntactic abilities in AD, various methodological paradigms have been implemented: narrative discourse elicitation tasks and structured experimental tasks for production, and offline and online structured experimental tasks for comprehension. Very few studies implement and compare different methodological protocols; thus, little is known about the advantages and disadvantages of each methodology. What this paper adds to existing knowledge The paper presents an overview of methodologies that have been used to assess morphosyntactic production and comprehension of people with AD at the word and sentence levels. The paper summarizes the strengths and shortcomings of each methodology, providing both the researcher and the clinician with some directions in their endeavour of investigating language in AD. Also, the paper highlights the need for further research that will implement carefully scrutinized tasks from various experimental paradigms and will explore distinct aspects of the AD patients' morphosyntactic abilities in typologically different languages. What are the potential or actual clinical implications of this work? The paper may serve as a reference point for (psycho-)linguists who wish to study morphosyntactic abilities in AD, and for speech and language therapists who might need to apply morphosyntactic protocols to their patients in order to assess them or design appropriate therapeutic interventions for production and comprehension deficits.

A scoping review of oral language and social communication abilities in children with Tourette syndrome.

BACKGROUND: Children with Tourette syndrome (TS) have historically experienced problems in academic and social settings, yet their language and communication abilities have not been extensively researched. AIMS: This scoping review maps the literature on the oral language and social communication abilities of children with TS in order to describe the nature of the current literature, present a summary of major findings and identify where gaps exist. METHODS: A scoping review was completed to identify studies measuring the oral language or social communication abilities of children with TS. A systematic search of six electronic databases was conducted to obtain published and unpublished literature. All English studies measuring the oral language or social communication abilities of children with TS were included. Information was extracted from records and knowledge was synthesised in a narrative summary. MAIN CONTRIBUTION: We identified 56 records for inclusion. Almost all records were located in journals within the fields of psychology and psychiatry. Skills most often studied were verbal IQ and verbal fluency. The literature suggests an increased prevalence of language disorders and social communication problems in children with TS; however, literature comprehensively detailing these challenges was scarce. Language strengths were identified in verbal intelligence, story/sentence recall, categorisation and performance on tasks at the single-word level. CONCLUSIONS: Oral language and social communication skills are important for academic and social success. This review brings scattered literature together to provide up-to-date information about language in children with TS and highlights that there are considerable gaps in our knowledge about language and communication in this population. This scoping review can inform future research and support speech language pathologists in the assessment of young people with TS. WHAT THIS PAPER ADDS: What is already known on the subject Speech-language pathologists (SLPs) working in various contexts (e.g., schools, mental health teams) are likely to encounter children with Tourette syndrome (TS); however, the description of this population and potential communication characteristics is not well represented in the SLP literature. Previous literature reviews have reported strengths in verbal fluency and morphological processing. Challenges in expressive language, higher order language, social cognition and a propensity towards autistic traits have also been identified. What this paper adds to existing knowledge This review differs from previous narrative reviews by employing a systematic approach to searching for literature. As a result, we identified 25 additional studies that had not been cited in previous reviews and additional relevant findings in 23 previously reviewed studies. This review confirms several previous conclusions about language in children with TS and extends or clarifies several others, thereby providing the most current information on oral language and social communication abilities. The use of current taxonomies of language and social communication helps to organise this literature for clinicians and researchers in speech-language pathology and identifies a need for further research from the SLP perspective. What are the potential or actual clinical implications of this work? These results imply that SLPs should screen children with TS for language disorders and investigate social communication and social interaction development. Clinicians can expect greater challenges in language and communication development for children with complex forms of TS (i.e., those who exhibit co-occurring conditions such as attention-deficit/hyperactivity disorder). The multidisciplinary nature of the current literature implies that clinical collaboration with other disciplines will be of particular benefit to serving this group of children.

Comparing the Clinical Effectiveness of Telerehabilitation with Traditional Speech and Language Rehabilitation in Children with Hearing Disabilities: A Systematic Review.

Introduction: The use of telerehabilitation for the treatment of speech and language disorders in the field of hearing is increasing. A comprehensive study comparing telerehabilitation's effectiveness with traditional rehabilitation can help us understand it better. Therefore, this systematic review aimed to compare the effectiveness of telerehabilitation with traditional rehabilitation for speech and language disorders in children with hearing disabilities in 2023. Methods: A systematic search was conducted in PubMed, PubMed Central, Cochrane, Scopus, Google Scholar, Science Direct, and the Web of Science from 2000 to February 28, 2023. The articles were selected based on keywords, determined criteria, and reviewed in terms of title, abstract, and full text. Finally, articles that were relevant to our aim were evaluated. Results: The initial search resulted in the extraction of 1,788 articles. After reviewing the articles and applying the inclusion and exclusion criteria, nine articles were selected for analysis. Four (44.44%) and 3 (33.33%) studies were case-control and quasi-experimental studies, respectively. Four (44.44%) studies were conducted in the United States. SPSS, Preschool Language Scales, fifth edition (PLS-5), and microphone were the most common tools, each of which included 4 (44.44%), 3 (33.33%), and (333.33%) studies. Conclusions: Traditional rehabilitation and telerehabilitation can effectively improve the speech and language skills of children with hearing disabilities. However, it is always suggested to use traditional rehabilitation first to achieve better results.

[Studies on the association of genes with language disorders in the post-genomic era].

Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders. It also provided a discussion over the co-occurrence of multiple diseases, with an aim to revealing the genetic association and/or pathogenetic mechanism in order to provide inspiration for the prevention, diagnosis, and treatment of language disorders.

Disfluencies in spontaneous speech in persons with low-grade glioma before and after surgery.

Impaired lexical retrieval is common in persons with low-grade glioma (LGG). Several studies have reported a discrepancy between subjective word-finding difficulties and results on formal tests. Analysis of spontaneous speech might be more sensitive to signs of word-finding difficulties, hence we aimed to explore disfluencies in a spontaneous-speech task performed by participants with presumed LGG before and after surgery. Further, we wanted to explore how the presence of disfluencies in spontaneous speech differed in the participants with and without objectively established lexical-retrieval impairment and with and without self-reported subjective experience of impaired language, speech and communication. Speech samples of 26 persons with presumed low-grade glioma were analysed with regard to disfluency features. The post-operative speech samples had a higher occurrence of fillers, implying more disfluent language production. The participants performed worse on two of the word fluency tests, and after surgery the number of participants who were assessed as having an impaired lexical retrieval had increased from 6 to 12. The number of participants who experienced a change in their language, speech or communication had increased from 9 to 12. Additional comparisons showed that those with impaired lexical retrieval had a higher proportion of false starts after surgery than those with normal lexical retrieval, and differences in articulation rate and speech rate, favouring those not having experienced any change in language, speech or communication. Taken together, the findings from this study strengthen the existing claim that temporal aspects of language and speech are important when assessing persons with gliomas.

Understanding Language from a Genomic Perspective.

Language is a defining characteristic of the human species, but its foundations remain mysterious. Heritable disorders offer a gateway into biological underpinnings, as illustrated by the discovery that FOXP2 disruptions cause a rare form of speech and language impairment. The genetic architecture underlying language-related disorders is complex, and although some progress has been made, it has proved challenging to pinpoint additional relevant genes with confidence. Next-generation sequencing and genome-wide association studies are revolutionizing understanding of the genetic bases of other neurodevelopmental disorders, like autism and schizophrenia, and providing fundamental insights into the molecular networks crucial for typical brain development. We discuss how a similar genomic perspective, brought to the investigation of language-related phenotypes, promises to yield equally informative discoveries. Moreover, we outline how follow-up studies of genetic findings using cellular systems and animal models can help to elucidate the biological mechanisms involved in the development of brain circuits supporting language.

Systematic Review and Meta-analysis of Language Symptoms due to Cerebellar Injury.

To date, cerebellar contribution to language is well established via clinical and neuroimaging studies. However, the particular functional role of the cerebellum in language remains to be clarified. In this study, we present the first systematic review of the diverse language symptoms in spoken language after cerebellar lesion that were reported in case studies for the last 30 years (18 clinical cases from 13 papers), and meta-analysis using cluster analysis with bootstrap and symptom co-occurrence analysis. Seven clusters of patients with similar language symptoms after cerebellar lesions were found. Co-occurrence analysis revealed pairs of symptoms that tend to be comorbid. Our results imply that the "linguistic cerebellum" has a multiform contribution to language function. The most possible mechanism of such contribution is the cerebellar reciprocal connectivity with supratentorial brain regions, where the cerebellar level of the language network has a general modulation function and the supratentorial level is more functionally specified. Based on cerebellar connectivity with supratentorial components of the language network, the "linguistic cerebellum" might be further functionally segregated.

Distinct reinforcement learning profiles distinguish between language and attentional neurodevelopmental disorders.

BACKGROUND: Theoretical models posit abnormalities in cortico-striatal pathways in two of the most common neurodevelopmental disorders (Developmental dyslexia, DD, and Attention deficit hyperactive disorder, ADHD), but it is still unclear what distinct cortico-striatal dysfunction might distinguish language disorders from others that exhibit very different symptomatology. Although impairments in tasks that depend on the cortico-striatal network, including reinforcement learning (RL), have been implicated in both disorders, there has been little attempt to dissociate between different types of RL or to compare learning processes in these two types of disorders. The present study builds upon prior research indicating the existence of two learning manifestations of RL and evaluates whether these processes can be differentiated in language and attention deficit disorders. We used a two-step RL task shown to dissociate model-based from model-free learning in human learners. RESULTS: Our results show that, relative to neurotypicals, DD individuals showed an impairment in model-free but not in model-based learning, whereas in ADHD the ability to use both model-free and model-based learning strategies was significantly compromised. CONCLUSIONS: Thus, learning impairments in DD may be linked to a selective deficit in the ability to form action-outcome associations based on previous history, whereas in ADHD some learning deficits may be related to an incapacity to pursue rewards based on the tasks' structure. Our results indicate how different patterns of learning deficits may underlie different disorders, and how computation-minded experimental approaches can differentiate between them.