Elevated iron concentration in putamen and cortical speech motor network in developmental stuttering.
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ABSTRACT:
SUBMITTER: Cler GJ
PROVIDER: S-EPMC8634076 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:OBJECTIVE:To analyze the frequency of speech disruptions across different speech tasks, comparing the performance of individuals with Parkinson's Disease (PD) and DS. METHOD:Participants were 20 people with PD, 20 people with DS and 40 fluent individuals. Speech samples were recorded during monologue speech, choral and solo oral reading. Transcriptions of 200 fluent syllables were performed to identify stuttering-like disfluencies (SLDs) and other disfluencies (ODs). RESULTS:People with PD presented significantly less speech disruptions when compared to people with DS, but significantly more speech disruptions than the control group. Stuttering-like disfluencies ocurred more frequently during monologue speech and solo oral reading for both PD and DS, whereas the control group did not present difference between these tasks. CONCLUSION:The stuttering pattern presented by people with PD is different from what is usually described as being neurogenic stuttering.
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Project description:Motor balance in developmental stuttering (DS) was investigated with Transcranial Magnetic Stimulation (TMS), with the aim to define novel neural markers of persistent DS in adulthood. Eleven DS adult males were evaluated with TMS on tongue primary motor cortex, compared to 15 matched fluent speakers, in a "state" condition (i.e. stutterers vs. fluent speakers, no overt stuttering). Motor and silent period thresholds (SPT), recruitment curves, and silent period durations were acquired by recording tongue motor evoked potentials. Tongue silent period duration was increased in DS, especially in the left hemisphere (P<0.05; Hedge's g or Cohen's dunbiased = 1.054, i.e. large effect size), suggesting a "state" condition of higher intracortical inhibition in left motor cortex networks. Differences in motor thresholds (different excitatory/inhibitory ratios in DS) were evident, as well as significant differences in SPT. In fluent speakers, the left hemisphere may be marginally more excitable than the right one in motor thresholds at lower muscular activation, while active motor thresholds and SPT were higher in the left hemisphere of DS with respect to the right one, resulting also in a positive correlation with stuttering severity. Pre-TMS electromyography data gave overlapping evidence. Findings suggest the existence of a complex intracortical balance in DS tongue primary motor cortex, with a particular interplay between excitatory and inhibitory mechanisms, also in neural substrates related to silent periods. Findings are discussed with respect to functional and structural impairments in stuttering, and are also proposed as novel neural markers of a stuttering "state" in persistent DS, helping to define more focused treatments (e.g. neuro-modulation).
| S-EPMC5053488 | biostudies-literature
Project description:The neurobiological underpinnings of stuttering, a speech disorder characterized by disrupted speech fluency, remain unclear. While recent developments in the field have afforded researchers the ability to pinpoint several genetic profiles associated with stuttering, how these specific genetic backgrounds impact neuronal circuits and how they generate or facilitate the emergence of stuttered speech remains unknown. In this study, we identified the large-scale cortical network that characterizes stuttering using functional connectivity MRI and graph theory. We performed a spatial similarity analysis that examines whether the topology of the stuttering cortical network intersects with genetic expression levels of previously reported genes for stuttering from the protein-coding transcriptome data of the Allen Human Brain Atlas. We found that GNPTG - a gene involved in the mannose-6-phosphate lysosomal targeting pathways - was significantly co-localized with the stuttering cortical network. An enrichment analysis demonstrated that the genes identified with the stuttering cortical network shared a significantly overrepresented biological functionality of Neurofilament Cytoskeleton Organization (NEFH, NEFL and INA). The relationship between lysosomal pathways, cytoskeleton organization, and stuttering, was investigated by comparing the genetic interactome between GNPTG and the neurofilament genes implicated in the current study. We found that genes of the interactome network, including CDK5, SNCA, and ACTB, act as functional links between lysosomal and neurofilament genes. These findings support the notion that stuttering is due to a lysosomal dysfunction, which has deleterious effects on the neurofilament organization of the speech neuronal circuits. They help to elucidate the intriguing, unsolved link between lysosomal mutations and the presence of stuttering.
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Project description:Developmental stuttering (DS) is a disturbance of the normal rhythm of speech that may be interpreted as very debilitating in the most affected cases. Interventions for DS are historically based on the behavioral modifications of speech patterns (e.g., through speech therapy), which are useful to regain a better speech fluency. However, a great variability in intervention outcomes is normally observed, and no definitive evidence is currently available to resolve stuttering, especially in the case of its persistence in adulthood. In the last few decades, DS has been increasingly considered as a functional disturbance, affecting the correct programming of complex motor sequences such as speech. Compatibly, understanding of the neurophysiological bases of DS has dramatically improved, thanks to neuroimaging, and techniques able to interact with neural tissue functioning [e.g., non-invasive brain stimulation (NIBS)]. In this context, the dysfunctional activity of the cortico-basal-thalamo-cortical networks, as well as the defective patterns of connectivity, seems to play a key role, especially in sensorimotor networks. As a consequence, a direct action on the functionality of "defective" or "impaired" brain circuits may help people who stutter to manage dysfluencies in a better way. This may also "potentiate" available interventions, thus favoring more stable outcomes of speech fluency. Attempts aiming at modulating (and improving) brain functioning of people who stutter, realized by using NIBS, are quickly increasing. Here, we will review these recent advancements being applied to the treatment of DS. Insights will be useful not only to assess whether the speech fluency of people who stutter may be ameliorated by acting directly on brain functioning but also will provide further suggestions about the complex and dynamic pathophysiology of DS, where causal effects and "adaptive''/''maladaptive" compensation mechanisms may be strongly overlapped. In conclusion, this review focuses future research toward more specific, targeted, and effective interventions for DS, based on neuromodulation of brain functioning.
| S-EPMC8386014 | biostudies-literature
Project description:Stuttering is a neurodevelopmental disorder characterized by impaired production of coordinated articulatory movements needed for fluent speech. It is currently unknown whether these abnormal production characteristics reflect disruptions to brain mechanisms underlying the acquisition and/or execution of speech motor sequences. To dissociate learning and control processes, we used a motor sequence learning paradigm to examine the behavioral and neural correlates of learning to produce novel phoneme sequences in adults who stutter (AWS) and neurotypical controls. Participants intensively practiced producing pseudowords containing non-native consonant clusters (e.g., "gvasf") over two days. The behavioral results indicated that although the two experimental groups showed comparable learning trajectories, AWS performed significantly worse on the task prior to and after speech motor practice. Using functional magnetic resonance imaging (fMRI), the authors compared brain activity during articulation of the practiced words and a set of novel pseudowords (matched in phonetic complexity). FMRI analyses revealed no differences between AWS and controls in cortical or subcortical regions; both groups showed comparable increases in activation in left-lateralized brain areas implicated in phonological working memory and speech motor planning during production of the novel sequences compared to the practiced sequences. Moreover, activation in left-lateralized basal ganglia sites was negatively correlated with in-scanner mean disfluency in AWS. Collectively, these findings demonstrate that AWS exhibit no deficit in constructing new speech motor sequences but do show impaired execution of these sequences before and after they have been acquired and consolidated.
| S-EPMC8294667 | biostudies-literature
Project description:The purpose of this study was to determine if indices of speech motor coordination during the production of sentences varying in sentence length and syntactic complexity were associated with stuttering persistence versus recovery in 5- to 7-year-old children.We compared children with persistent stuttering (CWS-Per) with children who had recovered (CWS-Rec), and children who do not stutter (CWNS). A kinematic measure of articulatory coordination, lip aperture variability (LAVar), and overall movement duration were computed for perceptually fluent sentence productions varying in length and syntactic complexity.CWS-Per exhibited higher LAVar across sentence types compared to CWS-Rec and CWNS. For the participants who successfully completed the experimental paradigm, the demands of increasing sentence length and syntactic complexity did not appear to disproportionately affect the speech motor coordination of CWS-Per compared to their recovered and fluent peers. However, a subset of CWS-Per failed to produce the required number of accurate utterances.These findings support our hypothesis that the speech motor coordination of school-age CWS-Per, on average, is less refined and less mature compared to CWS-Rec and CWNS. Childhood recovery from stuttering is characterized, in part, by overcoming an earlier occurring maturational lag in speech motor development.
| S-EPMC5533560 | biostudies-other
Project description:In noisy environments, listeners tend to hear a speaker's voice yet struggle to understand what is said. The most effective way to improve intelligibility in such conditions is to watch the speaker's mouth movements. Here we identify the neural networks that distinguish understanding from merely hearing speech, and determine how the brain applies visual information to improve intelligibility. Using functional magnetic resonance imaging, we show that understanding speech-in-noise is supported by a network of brain areas including the left superior parietal lobule, the motor/premotor cortex, and the left anterior superior temporal sulcus (STS), a likely apex of the acoustic processing hierarchy. Multisensory integration likely improves comprehension through improved communication between the left temporal-occipital boundary, the left medial-temporal lobe, and the left STS. This demonstrates how the brain uses information from multiple modalities to improve speech comprehension in naturalistic, acoustically adverse conditions.
| S-EPMC2833290 | biostudies-literature
Project description:PurposeTo evaluate the prevalence and treatment patterns of speech and language disorders in Germany.MethodsA retrospective analysis of data collected from 32% of the German population, insured by the statutory German health insurance (AOK, Local Health Care Funds). We used The International Statistical Classification of Diseases and Related Health Problems, 10th revision, German Modification (ICD-10 GM) codes for stuttering (F98.5), cluttering (F98.6), and developmental disorders of speech and language (F80) to identify prevalent and newly diagnosed cases each year. Prescription and speech therapy reimbursement data were used to evaluate treatment patterns.ResultsIn 2017, 27,977 patients of all ages were diagnosed with stuttering (21,045 males, 75% and 6,932 females, 25%). Stuttering prevalence peaks at age 5 years (boys, 0.89% and girls, 0.40%). Cluttering was diagnosed in 1,800 patients of all ages (1,287 males, 71.5% and 513 females, 28.5%). Developmental disorders of speech and language were identified in 555,774 AOK-insurants (61.2% males and 38.8% females). Treatment data indicate a substantial proportion newly diagnosed stuttering individuals receive treatment (up to 45% of 6-year-old patients), with slightly fewer than 20 sessions per year, on average. We confirmed a previous study showing increased rates of atopic disorders and neurological and psychiatric comorbidities in individuals with stuttering, cluttering, and developmental disorders of speech and language.ConclusionThis is the first nationwide study using health insurance data to analyze the prevalence and newly diagnosed cases of a speech and language disorder. Prevalence and gender ratio data were consistent with the international literature. The crude prevalence of developmental disorders of speech and language increased from 2015 to 2018, whereas the crude prevalence for stuttering remained stable. For cluttering, the numbers were too low to draw reliable conclusions. Proportional treatment allocation for stuttering peaked at 6 years of age, which is the school entrance year, and is later than the prevalence peak of stuttering.
| S-EPMC8071871 | biostudies-literature
Project description:The aim of this study was to identify differences in functional and effective brain connectivity between persons who stutter (PWS) and typically developing (TD) fluent speakers, and to assess whether those differences can serve as biomarkers to distinguish PWS from TD controls. We acquired resting-state functional magnetic resonance imaging data in 44 PWS and 50 TD controls. We then used Independent Component Analysis (ICA) together with Hierarchical Partner Matching (HPM) to identify networks of robust, functionally connected brain regions that were highly reproducible across participants, and we assessed whether connectivity differed significantly across diagnostic groups. We then used Granger Causality (GC) to study the causal interactions (effective connectivity) between the regions that ICA and HPM identified. Finally, we used a kernel support vector machine to assess how well these measures of functional connectivity and granger causality discriminate PWS from TD controls. Functional connectivity was stronger in PWS compared with TD controls in the supplementary motor area (SMA) and primary motor cortices, but weaker in inferior frontal cortex (IFG, Broca's area), caudate, putamen, and thalamus. Additionally, causal influences were significantly weaker in PWS from the IFG to SMA, and from the basal ganglia to IFG through the thalamus, compared to TD controls. ICA and GC indices together yielded an accuracy of 92.7% in classifying PWS from TD controls. Our findings suggest the presence of dysfunctional circuits that support speech planning and timing cues for the initiation and execution of motor sequences in PWS. Our high accuracy of classification further suggests that these aberrant brain features may serve as robust biomarkers for PWS.
| S-EPMC5536300 | biostudies-literature
Project description:Despite a lifetime prevalence of at least 5%, developmental stuttering, characterized by prolongations, blocks, and repetitions of speech sounds, remains a largely idiopathic speech disorder. Family, twin, and segregation studies overwhelmingly support a strong genetic influence on stuttering risk; however, its complex mode of inheritance combined with thus-far underpowered genetic studies contribute to the challenge of identifying and reproducing genes implicated in developmental stuttering susceptibility. We conducted a trans-ancestry genome-wide association study (GWAS) and meta-analysis of developmental stuttering in two primary datasets: The International Stuttering Project comprising 1,345 clinically ascertained cases from multiple global sites and 6,759 matched population controls from the biobank at Vanderbilt University Medical Center (VUMC), and 785 self-reported stuttering cases and 7,572 controls ascertained from The National Longitudinal Study of Adolescent to Adult Health (Add Health). Meta-analysis of these genome-wide association studies identified a genome-wide significant (GWS) signal for clinically reported developmental stuttering in the general population: a protective variant in the intronic or genic upstream region of SSUH2 (rs113284510, protective allele frequency = 7.49%, Z = -5.576, p = 2.46 × 10-8) that acts as an expression quantitative trait locus (eQTL) in esophagus-muscularis tissue by reducing its gene expression. In addition, we identified 15 loci reaching suggestive significance (p < 5 × 10-6). This foundational population-based genetic study of a common speech disorder reports the findings of a clinically ascertained study of developmental stuttering and highlights the need for further research.
| S-EPMC8756529 | biostudies-literature