Speech Disorders Research Articles

Analysis of language and influencing factors of children with speech disorder in Beijing

Objective: To investigate the features and influencing factors of language in children with various types of speech disorders. Methods: A case-control study was carried out, 262 children with speech disorder had been diagnosed at the language-speech clinic of the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics from January 2021 to November 2023, the children with speech sound disorder as the speech sound disorder group, the children with developmental stuttering as the stuttering group. There were 100 typically-developed children who underwent physical checkups at the Center of Healthcare during the same period as the healthy group. All children experienced a standardized evaluation of language with diagnostic receptive and expressive assessment of mandarin-comprehensive(DREAM-C) and questionnaire, One-way ANOVA and LSD test were conducted to compare the differences in overall language, receptive language, expressive language, semantics, and syntax scores among 3 groups of children. According to the results of DREAM-C, the children with speech disorder were divided into language normal group and language delay group. Chi-square test and multivariate Logistic regression were implemented to analyze the association between the linguistic development of children with speech disorder and potential influential factors. Results: There were 145 children in the speech sound disorder group, including 110 males and 35 females respectively, with an age of (5.9±1.0) years; 117 children in the stuttering group, including 91 males and 26 females, with an age of (5.8±1.0) years; 100 children in the healthy group, including 75 males and 25 females, with an age of (5.7±1.2) years. The variations in overall language, expressive language, and syntax scores among 3 groups of children were statistically significant (92±18 vs.96±11 vs. 98±11, 81±18 vs. 84±14 vs. 88±13, 87±16 vs. 89±11 vs. 91±10, F=5.46, 4.69, 3.68, all P<0.05). Pairwise comparison revealed that the speech sound disorder group had lower scores in overall language, expressive language, and syntactic compared to the healthy group, and the differences were statistically significant (all P<0.01) and the overall language score was lower than that of children with stuttering (P<0.05). In terms of overall language and expressive language, there was a statistically significant difference in the incidence of language delay among the three groups of children (15.9% (23/145) vs. 20.5% (24/117) vs. 7.0% (7/100), 46.2% (67/145) vs. 39.3% (46/117) vs. 26.0% (26/100); χ2=7.93, 10.28; both P<0.05). In terms of overall language, the stuttering group took up the highest proportion. In terms of expressive language, the speech sound disorder group accounted for the highest amount. The incidence of language delay in children with speech disorder was 44.3% (116/262). Non-parent-child reading, daily screen time ≥1 hour and screen exposure before 1.5 years of age are risk factors for the development of language in children with speech disorder (OR=1.87, 2.18, 2.01; 95%CI 1.07-3.27, 1.23-3.86, 1.17-3.45; all P<0.01). Negative family history are protective factors for the progress of language ability (OR=0.37, 95%CI 0.17-0.81, P<0.05). Conclusions: Children with speech disorder tend to have easy access to language delay, especially in expressive language and syntax. The occurrence of language delay in children with speech disorder is tightly connected with factors such as the family medical history, parent-child reading, screen time, etc. Attention should be paid to the development of language in children who suffer from speech disorder.

Abstract PS13-03: Safety of taxane chemotherapy for the treatment of breast cancer during pregnancy: an international cohort study

Abstract Introduction: The addition of taxanes to anthracycline-based chemotherapy regimens offers increased odds of survival in breast cancer (BC) patients. However, some clinicians defer their use in pregnant patients due to limited evidence supporting safety during gestation. The aim of this study is to describe the prevalence of maternal and neonatal adverse events in BC patients exposed to taxane-containing regimens during pregnancy. Methods: This is an international cohort study of BC patients treated with taxane chemotherapy during pregnancy. Inclusion criteria were age ≥18 years, treatment in a participating center (n=10), and completion of pregnancy. Results: A total of 103 women with a median age of 34 years (range 21-44) were included, of whom the majority (91/101; 90.1%) were also exposed to anthracyclines. The median gestational age at initiation of any chemotherapy agent was 16 weeks (range 4-34), while that of taxanes was 28 weeks (range 12-37). Paclitaxel was the most frequently used taxane (100/103; 97.1%), most prescribed as an 80 mg/m2 weekly infusion. All cases were singleton pregnancies except for one twin gestation. The overall live birth rate was 98.0% (100/102). Median gestational age at delivery was 37 weeks (range 32 to 40), with 36/83 live births being preterm (gestational age of &amp;lt; 37 weeks; 43.4%). Median birth weight was 2700 grams (range 1440-4000). The prevalence of grade 3 to 4 adverse events, obstetric complications, and neonatal outcomes are shown in the Table. A total of 56/58 (96.6%) of neonates had a 5-minute Apgar score ≥7 and 14/88 (15.9%) were admitted to a neonatal intensive care unit. Follow-up beyond the neonatal period was available for 28 neonates (median 42 months, range 1-228), of which reported adverse events were: cardiac abnormality (n=1), speech disorder (n=1), renal disfunction (n=1), and femoral anteversion (n=1). Conclusion: The use of taxane-containing chemotherapy during pregnancy does not seem to increase the risk of obstetric and neonatal complications. Our findings support the use of taxanes during gestation when clinically indicated. Table 1. Reported adverse events with gestational use of taxane-containing chemotherapy regimens. Citation Format: Ana Ferrigno Guajardo, Bryan Vaca-Cartagena, Erica Mayer, Chayma Bousrih, Oluchi Oke, Cristina Saura, Fedro Alessandro Peccatori, Wendy Muñoz-Montaño, Alvaro Cabrera-Garcia, Matteo Lambertini, Luis Corrales, Andrea Becerril-Gaitan, Tal Sella, Alexandra Newman, Barbara Pistilli, Ashley Martinez, Carolina Ortiz, Laia Joval-Ramentol, Giovanna Scarfone, Barbara Buonomo, Fernando Lara-Medina, Jacqueline Sanchez, Luca Arecco, Allan Ramos-Esquivel, Snezana Susnjar, Gilberto Morgan, Cynthia Villarreal-Garza, Hatem Azim. Safety of taxane chemotherapy for the treatment of breast cancer during pregnancy: an international cohort study [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PS13-03.

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families. Clinical presentations of two patients with CdLS were evaluated, and specimens from the patients and other family members were collected for Trio-based whole-exome sequencing. Pyrosequencing, chip-based digital PCR, minigene splicing assay, and in silico analysis were carried out to elucidate the impact of novel variants. Novel heterozygous variants in SMC3 were identified in each proband. One harbored a novel splicing and mosaic variant (c.2535+1G>A) in SMC3. The mutated allele G>A conversion was approximately 23.1% by digital PCR, which indicated that 46.2% of peripheral blood cells had this variant. Additionally, invitro minigene splicing analysis validated that the c.2535+1G>A variant led to an exon skipping in messenger RNA splicing. The other carried a heterozygous variant (c.435C>A), which was predicted to be pathogenic as well as significantly altered in local electrical potential. The former showed multiple abnormalities and marked clinical severity, and the latter mainly exhibited a speech developmental disorder and slightly facial anomalies. Both patients were clinically diagnosed with Cornelia de Lange syndrome 3 (CdLS3). The newly identified SMC3 gene variants can expand the understanding of CdLS3 and provide reliable evidence for genetic counseling to the affected family.

Differential spectral characteristics of the Spanish fricative /s/ in the articulation of individuals with dysarthria and apraxia of speech

PurposeThis study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures during production of the central-peninsular Spanish alveolar sibilant fricative /s/. MethodTo this end, production of the sibilant was analyzed in 20 subjects with dysarthria, 8 with apraxia of speech and 28 healthy speakers. Participants produced 12 sV(C) words. The variables compared across groups were the fricative's spectral amplitude difference (AmpD) and spectral moments in the temporal midpoint of fricative execution. ResultsThe results indicate that individuals with dysarthria can be distinguished from healthy speakers in terms of the spectral characteristics AmpD, standard deviation (SD), center of gravity (CoG) and skewness, the last two in context with unrounded vowel, while no differences in kurtosis were detected. Participants with AoS group differ significantly from healthy speaker group in AmpD, SD and CoG and Kurtosis, the first one followed unrounded vowel and the latter two followed by rounded vowels. In addition, speakers with apraxia of speech group returned significant differences with respect to speakers with dysarthria group in AmpD, CoG and skewness. ConclusionsThe differences found between the groups in the measures studied as a function of the type of vowel context could provide insights into the distinctive manifestations of motor speech disorders, contributing to the differential diagnosis between apraxia and dysarthria in motor control processes.

The encoding of speech modes in motor speech disorders: whispered versus normal speech in apraxia of speech and hypokinetic dysarthria

ABSTRACT Speakers with motor speech disorders (MSD) present challenges in speech production, one of them being the difficulty to adapt their speech to different modes. However, it is unclear whether different types of MSD are similarly affected when it comes to adapting their speech to various communication contexts. This study investigates the encoding of speech modes in individuals with AoS following focal brain damage and in individuals with hypokinetic dysarthria (HD) secondary to Parkinson’s disease. Participants with mild-to-moderate MSD and their age-matched controls performed a delayed production task of pseudo-words in two speech modes: normal and whispered speech. While overall accuracy did not differ significantly across speech modes, participants with AoS exhibited longer response latencies for whispered speech, reflecting difficulties in the initiation of utterances requiring an unvoiced production. In contrast, participants with HD showed faster response latencies for whispered speech, indicating that this speech mode is easier to encode/control for this population. Acoustic durations followed these same trends, with participants with AoS showing greater lengthening for whispered speech as compared to controls and to participants with HD, while participants with HD exhibited milder lengthening. Contrary to the predictions of speech production models, suggesting that speech mode changes might be particularly difficult in dysarthria, the present results suggest that speech mode adaptation rather seems particularly costly for participants with AoS.

Neurodynamic Speech Disorders in the Acute Period of Ischemic Stroke

Neurodynamic Speech Disorders in the Acute Period of Ischemic Stroke

Revealing the spatiotemporal brain dynamics of covert speech compared with overt speech: A simultaneous EEG-fMRI study

Covert speech (CS) refers to speaking internally to oneself without producing any sound or movement. CS is involved in multiple cognitive functions and disorders. Reconstructing CS content by brain-computer interface (BCI) is also an emerging technique. However, it is still controversial whether CS is a truncated neural process of overt speech (OS) or involves independent patterns. Here, we performed a word-speaking experiment with simultaneous EEG-fMRI. It involved 32 participants, who generated words both overtly and covertly. By integrating spatial constraints from fMRI into EEG source localization, we precisely estimated the spatiotemporal dynamics of neural activity. During CS, EEG source activity was localized in three regions: the left precentral gyrus, the left supplementary motor area, and the left putamen. Although OS involved more brain regions with stronger activations, CS was characterized by an earlier event-locked activation in the left putamen (peak at 262 ms versus 1170 ms). The left putamen was also identified as the only hub node within the functional connectivity (FC) networks of both OS and CS, while showing weaker FC strength towards speech-related regions in the dominant hemisphere during CS. Path analysis revealed significant multivariate associations, indicating an indirect association between the earlier activation in the left putamen and CS, which was mediated by reduced FC towards speech-related regions. These findings revealed the specific spatiotemporal dynamics of CS, offering insights into CS mechanisms that are potentially relevant for future treatment of self-regulation deficits, speech disorders, and development of BCI speech applications.

Understanding Bardet-Biedl Syndrome: Unveiling the Complexities of this Rare Genetic Disorder and its Systematic Review to Identify its Various Variants with Genetic Analysis.

Background: There are a variety of clinical features associated with Bardet-Biedl Syndrome (BBS), a rare genetic disorder affecting several organ systems. First identified in the early 20th century, BBS has since been the subject of extensive research to understand its underlying genetics, clinical presentation, and management. This article provides a comprehensive background on BBS, highlighting its clinical manifestations, genetic basis, and current research efforts. Introduction: BBS is a multisystem, genetic, autosomal recessive heterogeneous cilia structural and functional disorder (occurs when one gene influences two or more seemingly unrelated phenotypic traits) characterized by structural and functional abnormalities of organ and tissues with diverse embryonic derivation. It was first described by Laurence and Moon in 1866. It is caused by loss of proteins coding by the BBS gene. It is characterized by retinal degeneration, post-axial polydactyly, obesity, cognitive deficit, hypogonadism, and cognitive dysfunction. Associated features are diabetes mellitus, hypertension, congenital heart disease, speech defects, dental anomalies, and hepatic fibrosis. In order to diagnose the BBS, molecular genetic tests, such as whole-exome sequencing or whole-genome sequencing is considered useful. Case: A 16 year old girl presented to us in the general medicine ward through the Emergency department with the complaints of dyspnea for six months, fever for three days, and dysuria for three days. Her fever was associated with rigors and chills. On further questioning, her urine was reported to have a bad smell. Past medical history was positive for otitis media and falls. She needed walking support as she was unable to see at night time. On physical examination a young lady was laying in the supine position. She was pale, obese and had high respiratory rate. There was no lymphadenopathy. Extra digits were noted in her upper and lower limbs. Rest of the physical examination was normal. The patient was started on 2 liters of oxygen and blood samples were taken for laboratory investigations. Conclusion: As this was diagnosed on time, so it helped both the family and physcians to check on her weight, respiratory functions, skeletal abnormalities, sexual development, visual acquity, cardiac functioning, hepatic functioning and hematologic stability such as hemoglobin. Being a very rare disease a therefore this disease awareness is necessary among physicians to diagnose the disease early and treat the complications of the disease so that the complications do not progress to the stage where it is irreversible. Early detection of renal problem, visual problems, obesity, and learning disabilities is necessary to be treated on time by involving multidisciplinary approaches.

Validasi Flashcard BlaaBlaaBlaa sebagai media intervensi gangguan speech delay

The global pandemic has been disrupting the lives of many people. For children aged 2-4 years old with speech delay disorder, social isolation can be detrimental because there is a lack of social interactions that are vital for their language development. This article focused to develop an intervention media, the Blaablaablaa Flashcard, to help parents and therapists working with children with speech delay. In developing this paper, we document the process of validating the cards by working with developmental psychologists and two therapists in Surabaya. In the process, we also explore the potential improvements that can be made to improve the quality of the cards. Various feedback has been gathered, ranging from the content, design, and instructional elements. Results show that the Blaablaablaa Flashcard meets the standard to use as an intervention media for children with speech delay.

Features of speech disorders in children with epileptic encephalopathies

Introduction. Speech disorders are a common problem in childhood. Speech disorders of various types are, in particular, the most common complications of epilepsy.&#x0D; Objective. The clinical manifestations of speech disorders in children with epileptic encephalopathies were studied.&#x0D; Materials and methods. The study included eighty nine children with epileptic encephalopathies. All patients underwent a detailed study of the anamnesis of life and disease, assessment of neurological and somatic, analysis of the semiotics of seizures, assessment of the therapy received, articulatory praxis, phonemic perception, game activity, expressive speech, impressive speech.&#x0D; Results. Speech in the examined patients had the character of a gross violation after the stage of normal development (37.1%), speech development delay was noted in 38.2% of patients from birth. Phonemic perception was impaired in 73 (82.0%) patients, a violation of articulatory praxis was detected in 63 (70.8%) patients, coherent speech was not formed in 78 (87.6%) patients, play activity did not correspond to the age of the child in 50 ( 56.2%) cases, violation of the account was detected in 69 (77.5%) patients, violation of sound pronunciation was observed in 30 (33.7%) patients. &#x0D; Conclusion. Articulatory apraxia and motor alalia are the most common types of speech disorders in children with epileptic encephalopathies.

Exploring the Performance of ChatGPT-4 in the Taiwan Audiologist Qualification Examination: Preliminary Observational Study Highlighting the Potential of AI Chatbots in Hearing Care.

Artificial intelligence (AI) chatbots, such as ChatGPT-4, have shown immense potential for application across various aspects of medicine, including medical education, clinical practice, and research. This study aimed to evaluate the performance of ChatGPT-4 in the 2023 Taiwan Audiologist Qualification Examination, thereby preliminarily exploring the potential utility of AI chatbots in the fields of audiology and hearing care services. ChatGPT-4 was tasked to provide answers and reasoning for the 2023 Taiwan Audiologist Qualification Examination. The examination encompassed six subjects: (1) basic auditory science, (2) behavioral audiology, (3) electrophysiological audiology, (4) principles and practice of hearing devices, (5) health and rehabilitation of the auditory and balance systems, and (6) auditory and speech communication disorders (including professional ethics). Each subject included 50 multiple-choice questions, with the exception of behavioral audiology, which had 49 questions, amounting to a total of 299 questions. The correct answer rates across the 6 subjects were as follows: 88% for basic auditory science, 63% for behavioral audiology, 58% for electrophysiological audiology, 72% for principles and practice of hearing devices, 80% for health and rehabilitation of the auditory and balance systems, and 86% for auditory and speech communication disorders (including professional ethics). The overall accuracy rate for the 299 questions was 75%, which surpasses the examination's passing criteria of an average 60% accuracy rate across all subjects. A comprehensive review of ChatGPT-4's responses indicated that incorrect answers were predominantly due to information errors. ChatGPT-4 demonstrated a robust performance in the Taiwan Audiologist Qualification Examination, showcasing effective logical reasoning skills. Our results suggest that with enhanced information accuracy, ChatGPT-4's performance could be further improved. This study indicates significant potential for the application of AI chatbots in audiology and hearing care services.

Smartphone-Based Speech Therapy for Poststroke Dysarthria: Pilot Randomized Controlled Trial Evaluating Efficacy and Feasibility.

Dysarthria is a common poststroke speech disorder affecting communication and psychological well-being. Traditional speech therapy is effective but often poses challenges in terms of accessibility and patient adherence. Emerging smartphone-based therapies may offer promising alternatives for the treatment of poststroke dysarthria. This study aimed to assess the efficacy and feasibility of smartphone-based speech therapy for improving speech intelligibility in patients with acute and early subacute poststroke dysarthria. This study also explored the impact of the intervention on psychological well-being, user experience, and overall feasibility in a clinical setting. Participants were divided into 2 groups for this randomized, evaluator-blinded trial. The intervention group used a smartphone-based speech therapy app for 1 hour per day, 5 days per week, for 4 weeks, with guideline-based standard stroke care. The control group received standard guideline-based stroke care and rehabilitation. Speech intelligibility, psychological well-being, quality of life, and user acceptance were assessed using repeated measures ANOVA. In this study, 40 patients with poststroke dysarthria were enrolled, 32 of whom completed the trial (16 in each group). The intervention group showed significant improvements in speech intelligibility compared with the control group. This was evidenced by improvements from baseline (F1,30=34.35; P<.001), between-group differences (F1,30=6.18; P=.02), and notable time-by-group interactions (F1,30=6.91; P=.01). Regarding secondary outcomes, the intervention led to improvements in the percentage of correct consonants over time (F1,30=5.57; P=.03). In addition, significant reductions were noted in the severity of dysarthria in the intervention group over time (F1,30=21.18; P<.001), with a pronounced group effect (F1,30=5.52; P=.03) and time-by-group interaction (F1,30=5.29; P=.03). Regarding quality of life, significant improvements were observed as measured by the EQ-5D-3L questionnaire (F1,30=13.25; P<.001) and EQ-VAS (F1,30=7.74; P=.009) over time. The adherence rate to the smartphone-based app was 64%, with over half of the participants completing all the sessions. The usability of the app was rated high (system usability score 80.78). In addition, the intervention group reported increased self-efficacy in using the app compared with the control group (F1,30=10.81; P=.003). The smartphone-based speech therapy app significantly improved speech intelligibility, articulation, and quality of life in patients with poststroke dysarthria. These findings indicate that smartphone-based speech therapy can be a useful assistant device in the management of poststroke dysarthria, particularly in the acute and early subacute stroke stages. ClinicalTrials.gov NCT05146765; https://clinicaltrials.gov/ct2/show/NCT05146765.

Identification of the Biomechanical Response of the Muscles That Contract the Most during Disfluencies in Stuttered Speech.

Stuttering, affecting approximately 1% of the global population, is a complex speech disorder significantly impacting individuals' quality of life. Prior studies using electromyography (EMG) to examine orofacial muscle activity in stuttering have presented mixed results, highlighting the variability in neuromuscular responses during stuttering episodes. Fifty-five participants with stuttering and 30 individuals without stuttering, aged between 18 and 40, participated in the study. EMG signals from five facial and cervical muscles were recorded during speech tasks and analyzed for mean amplitude and frequency activity in the 5-15 Hz range to identify significant differences. Upon analysis of the 5-15 Hz frequency range, a higher average amplitude was observed in the zygomaticus major muscle for participants while stuttering (p < 0.05). Additionally, when assessing the overall EMG signal amplitude, a higher average amplitude was observed in samples obtained from disfluencies in participants who did not stutter, particularly in the depressor anguli oris muscle (p < 0.05). Significant differences in muscle activity were observed between the two groups, particularly in the depressor anguli oris and zygomaticus major muscles. These results suggest that the underlying neuromuscular mechanisms of stuttering might involve subtle aspects of timing and coordination in muscle activation. Therefore, these findings may contribute to the field of biosensors by providing valuable perspectives on neuromuscular mechanisms and the relevance of electromyography in stuttering research. Further research in this area has the potential to advance the development of biosensor technology for language-related applications and therapeutic interventions in stuttering.

Clinical features, cerebrospinal fluid changes, and prognosis in Chinese patients with autoimmune encephalitis.

Autoimmune encephalitis (AE) is a rare, treatable disease of the central nervous system (CNS) caused by an antibody-related immune response. This study is to investigate the correlation of clinical features, cerebrospinal fluid (CSF) characteristics, and prognosis in patients with AE. A total of 71 patients diagnosed with antibody-positive AE were retrospectively analyzed. The patients were divided into three groups: anti-NMDAR group, anti-LGI1 group, and other types. Clinical data were collected to analyze clinical features and CSF results, and prognosis was determined by modified Rankin Scale (mRS). There was statistical difference in the incidences of decreased consciousness level (P < 0.001), memory loss (P = 0.017), speech disorders (P = 0.035), and dyskinesia (P = 0.001) in different antibodies groups. Younger age (P = 0.018), elevated CSF chloride content (P = 0.006), and white blood cells > 50/mm3 (P = 0.026) were highly correlated with ICU admission. Anti-LGI1 encephalitis had a relatively small risk for ICU admission (P = 0.034), and a lower risk of poor functional recovery (P = 0.048) and recurrence (P = 0.041). Patients with first-line treatment failure (P = 0.021) had an increased risk of poor functional recovery. Delayed treatment (P = 0.011) would increase the risk of recurrence. There are differences in age, gender, clinical characteristics, and CSF results in different subtypes of AE. First-line therapy failure would have poor functional recovery, and delayed therapy would increase the risk of relapse. Chloride ion content and white blood cell count in cerebrospinal fluid are positively correlated with the patient's exacerbation and admission to ICU. These indicators have certain clinical value for the prognosis of AE patients.

Prevention of Articulation Disorders in Preschool-Age Children

Articulation disorders have been a most common disorder in recent years. They are the reason for the delayed mental, communicative, and emotional-behavioural development of preschool-age children. Of particular importance for the personal development of children are early diagnosis and treatment of articulation disorders. The purpose of this article is to present and analyse practices for the prevention, diagnosis, and elimination of speech disorders from an early age.

Mối liên quan giữa lâm sàng và hình ảnh học của nhồi máu não tái phát do tổn thương động mạch não giữa

Objectives: Evaluate the relationship between clinical and imaging of recurrent cerebral infarction dued to MCA damaged. Subjects and method: A cross-sectional, descriptive study of 77 patients with recurrent cerebral infarction dued to damaged middle cerebral artery treated at the Neurological Center, Bach Mai Hospital from July 2021 to August 2022. Results: Motor paralysis of the hemibody on the opposite side of the injury, paralysis of the central VII nerve on the opposite side of the injury and decreased sensation of the hemibody on the opposite side of the injury are symptoms seen at a high rate, accounting for 100% respectively; 90.9% and 77.9%. The proportion of patients with consciousness disorders from the beginning accounted for 49.4% of patients, 2 patients were in a deep coma when hospitalized (accounting for 2.6%). Language disorders including Broca’s language disorder, Wernicke’s language disorder and mixed language disorder accounted for 20/77 patients (26.0%). Horizontal eye and head deviation, circular muscle disorders, loss of attention on one side of the body, and hemianopia account for 32.5% respectively; 26.0%; 22.1%; 26.0%. 7.8% of patients had mental disorders and 14.3% of patients had seizures when hospitalized; The symptoms of headache, nausea, and vomiting accounted for 45.5% and 31.2%, respectively. Patients with symptoms clustered into Gerstman syndrome and Anton - Babinski syndrome account for a low rate: 9.1% and 11.7%. The most damaged arterial branch is the M1 branch with 31 patients, accounting for 40.2%; Oblique branches of the middle cerebral artery or putamen-striatum branches account for 32.5%. Only 4 patients had damage to branches M3 - M4 (accounting for 5.2%). The number of patients with damage to the M1 branch who had consciousness disorders accounted for the highest rate of 33.8%, with no patients with damage to the deep branch having consciousness disorders. Symptoms at hospital admission: consciousness disorders, speech disorders, turning eyes and head to the damaged hemisphere have a statistically significant relationship with the location of the damaged middle cerebral artery branch (p &lt; 0.05)Conclusion: Recurrent cerebral infarction due to damage to the middle cerebral artery has diverse clinical symptoms, depending on the damaged middle cerebral artery branch.

The Brain Gene Registry: a data snapshot

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource’s (ClinGen’s) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen’s BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders.

Detecting Speech Disorders Using A Machine-Learning Guided Method in Spontaneous Tunisian Dialect Speech

Detecting Speech Disorders Using A Machine-Learning Guided Method in Spontaneous Tunisian Dialect Speech

Using Objective Speech Analysis Techniques for the Clinical Diagnosis and Assessment of Speech Disorders in Patients with Multiple Sclerosis.

Multiple sclerosis (MS) is one of the chronic and neurodegenerative diseases of the central nervous system (CNS). It generally affects motor, sensory, cerebellar, cognitive, and language functions. It is thought that identifying MS speech disorders using quantitative methods will make a significant contribution to physicians in the diagnosis and follow-up of MS patients. In this study, it was aimed to investigate the speech disorders of MS via objective speech analysis techniques. The study was conducted on 20 patients diagnosed with MS according to McDonald's 2017 criteria and 20 healthy volunteers without any speech or voice pathology. Speech data obtained from patients and healthy individuals were analyzed with the PRAAT speech analysis program, and classification algorithms were tested to determine the most effective classifier in separating specific speech features of MS disease. As a result of the study, the K-nearest neighbor algorithm (K-NN) was found to be the most successful classifier (95%) in distinguishing pathological sounds which were seen in MS patients from those in healthy individuals. The findings obtained in our study can be considered as preliminary data to determine the voice characteristics of MS patients.

The Feel of Speech: Multisystem and Polymodal Somatosensation in Speech Production.

The oral structures such as the tongue and lips have remarkable somatosensory capacities, but understanding the roles of somatosensation in speech production requires a more comprehensive knowledge of somatosensation in the speech production system in its entirety, including the respiratory, laryngeal, and supralaryngeal subsystems. This review was conducted to summarize the system-wide somatosensory information available for speech production. The search was conducted with PubMed/Medline and Google Scholar for articles published until November 2023. Numerous search terms were used in conducting the review, which covered the topics of psychophysics, basic and clinical behavioral research, neuroanatomy, and neuroscience. The current understanding of speech somatosensation rests primarily on the two pillars of psychophysics and neuroscience. The confluence of polymodal afferent streams supports the development, maintenance, and refinement of speech production. Receptors are both canonical and noncanonical, with the latter occurring especially in the muscles innervated by the facial nerve. Somatosensory representation in the cortex is disproportionately large and provides for sensory interactions. Speech somatosensory function is robust over the lifespan, with possible declines in advanced aging. The understanding of somatosensation in speech disorders is largely disconnected from research and theory on speech production. A speech somatoscape is proposed as the generalized, system-wide sensation of speech production, with implications for speech development, speech motor control, and speech disorders.