Speech Symptoms Research Articles

Indicators of Communication Limitation in Dysarthria and Their Relation to Auditory-Perceptual Speech Symptoms: Construct Validity of the KommPaS Web App.

Despite extensive research into communication-related parameters in dysarthria, such as intelligibility, naturalness, and perceived listener effort, the existing evidence has not been translated into a clinically applicable, comprehensive, and valid diagnostic tool so far. This study addresses Communication-Related Parameters in Speech Disorders (KommPaS), a new web-based diagnostic instrument for measuring indices of communication limitation in individuals with dysarthria through online crowdsourcing. More specifically, it answers questions about the construct validity of KommPaS. In the first part, the interrelationship of the KommPaS variables intelligibility, naturalness, perceived listener effort, and speech rate were explored in order to draw a comprehensive picture of a patient's limitations and avoid the collection of redundant information. Second, the influences of motor speech symptoms on the KommPaS variables were studied in order to delineate the structural relationships between two complementary diagnostic perspectives. One hundred persons with dysarthria of different etiologies and varying degrees of severity were examined with KommPaS to obtain layperson-based data on communication-level parameters, and with the Bogenhausen Dysarthria Scale (BoDyS) to obtain expert-based, function-level data on dysarthria symptoms. The internal structure of the KommPaS variables and their dependence on the BoDyS variables were analyzed using structural equation modeling. Despite a high multicollinearity, all KommPaS variables were shown to provide complementary diagnostic information and their mutual interconnections were delineated in a path graph model. Regarding the influence of the BoDyS scales on the KommPaS variables, separate linear regression models revealed plausible predictor sets. A complete path model of KommPaS and BoDyS variables was developed to map the complex interplay between variables at the functional and the communication levels of dysarthria assessment. In validating a new clinical tool for the diagnostics of communication limitations in dysarthria, this study is the first to draw a comprehensive picture of how auditory-perceptual characteristics of dysarthria interact at the levels of expert-based functional and layperson-based communicative assessments.

Individual differences in speech and language within 72 h after a concussion

Traumatic brain injuries (TBIs) cause immediate and temporary alterations in brain function that result in a variety of symptoms including impacts on speech. Symptoms of dysarthria and aphasia occur but are primarily reported in moderate-severe injuries. Less is known about the specific changes in acoustic parameters and language that occur in mild concussions. A total of 250 athletes at Seton Hall University participated in baseline speech testing. Speech testing was performed again in a subset of 15 athletes who sustained a mild concussion (within 72 h). Speech and language analysis was performed on samples derived from a picture description task. Statistical comparisons showed minimal changes in acoustic parameters on average, but individual differences were present. Specifically, some individuals presented with a flatter prosody and/or lower mean pitch than others post-injury compared to baseline. Although no clear pattern of acoustic changes emerged, language analysis (semantics, syntax, morphology) showed an overall reduction of complexity of productions. Language outcomes indicate that changes in speech symptoms occur even in mild cases. Further investigations should examine the speech and language changes after a head injury against the individual’s complete symptom profile and neurological regions of damage in a larger sample size.

Migraine with aura.

Around 15% to one-third of migraineurs experience aura. Aura is a fully reversible focal neurological phenomenon involving visual, sensory, speech, and/or motor symptoms that develops gradually and usually precedes the headache phase. The pivotal role of cortical spreading depression (CSD) as a mechanism underlying aura has been widely supported by a large body of studies. The diagnosis is based on the International Headache Classification Disorders III edition criteria. Aura is characterized by gradual development, duration of each symptom no longer than one hour, a mix of positive and negative features, and complete reversibility. Visual aura is the most common type of aura, occurring in over 90% of patients. When aura symptoms are multiple, they usually follow one another in succession, beginning with visual, then sensory, then aphasic; but the reverse and other orders have been noted. The accepted duration for most aura symptoms is one hour, but motor symptoms, which are rare, are often longer lasting. When a patient experiences for the first time a possible aura phase it's sometimes difficult to know if there was gradual or brutal onset of the symptoms. If the patient has no visual aura symptoms or simultaneous neurological symptoms, or presents neurological symptoms corresponding to a cerebral vascular territory, emergency exploration of a possible transient ischemic attack is necessary. Long duration (greater than one hour) of what may or may not be an aura phase, late onset of aura, or a dramatic increase in aura attacks should also be explored. The relative risk of ischemic stroke is significantly increased in migraine with aura. Combined hormonal contraception with estrogens significantly increases the risk of stroke in women with migraine with aura. It is recommended to start non-steroidal anti-inflammatory drugs (NSAIDs) or aspirin as soon as possible during the aura phase, not to treat the aura, but to avoid or to diminish the headache phase. In case of failure of NSAIDs or aspirin it is recommended to use a triptan when the headache begins. The prophylactic treatments for migraine with aura are those used in migraine without aura based on very few randomized clinical trials specifically dedicated to migraine with aura.

Do people with Myasthenia Gravis need speech-language pathology services? A national survey of consumers’ experiences and perspectives

Purpose: This study explored experiences of bulbar (speech, voice and swallowing) symptoms in Australian adults with Myasthenia Gravis (MG), and the relationship between these symptoms and community participation and quality-of-life. Further, it examined access to and experiences with speech-language pathology (SLP) services, and awareness and perceptions of the SLP’s role. Method: A cross-sectional mixed methods online survey collected data using researcher-designed questions and patient-reported outcome measures (PROMs) including the Dysarthria Impact Profile (DIP), Voice Handicap Index (VHI), Dysphagia Handicap Index (DHI), Community Integration Questionnaire–Revised (CIQ-R), and Myasthenia Gravis Quality of Life–Revised 15 (MG-QOL15r). Analyses included descriptive and non-parametric statistics, and content analysis. Result: Participants were 111 adults with MG living in Australia. 74% of respondents reported experiencing symptoms of speech difficulties but only 20% of those were referred to SLP services. Similarly, 85% of respondents reported experiencing swallowing difficulties, but only 26% were referred to SLP. Voice handicap (VHI) was strongly correlated with the psychosocial impact of dysarthria (DIP) and dysphagia handicap (DHI). Increased voice and dysphagia handicap were moderately correlated with worse quality-of-life. There was generally poor awareness of the SLP’s role and many were reluctant to attend SLP appointments. Conclusion: These findings highlight unmet consumer needs for MG-related bulbar symptoms, and a lack of awareness of SLP services. It is suggested that, in addition to other strategies, consumer education and increased awareness are required to address these unmet needs.

Microglia activation in postmortem brains with schizophrenia demonstrates distinct morphological changes between brain regions.

Schizophrenia (SCZ) is a psychiatric disorder that can include symptoms of disorganized speech and thoughts with uncertain underlying mechanisms possibly linked to over‐activated microglia. In this study, we used brain samples from sixteen donors with SCZ and thirteen control donors to assess the differential activation of microglia by quantifying density and 3D reconstruction of microglia stained with ionized calcium‐binding adaptor molecule‐1 (Iba1). Our samples consisted of sections from the frontal, temporal, and cingulate cortical gray matter, subcortical white matter regions (SCWM), and included the anterior corpus callosum. In the first series of studies, we performed a density analysis followed by a spatial analysis to ascertain the microglial density, distribution, and soma size in SCZ brains. Second, we performed a series of morphological quantification techniques to investigate the arborization patterns of the microglia in SCZ. The results demonstrated an increase in microglia density in the cortical gray matter regions in SCZ cases, while in the SCWM, there was a significant increase in microglia density in the frontal and temporal, but not in the other brain regions of interest (ROIs). Spatial analysis using the “nearest neighbor” demonstrated that there was no effect in “clustering”, but there were shorter distances between microglia seen in the SCZ cases. The morphological measures showed that there was a region‐dependent increase in the microglia soma size in the SCZ cases while the Sholl analysis revealed a significant decrease in the microglia arborization in the SCZ cases across all the ROI’s studied. An in‐depth 3D reconstruction of microglia in Brodmann area 9 cortical region found that there was a significant association between age and reduced microglial arborization in the SCZ cases. This region‐dependent age association can help determine whether longitudinal changes in microglial activation across age are brain region‐dependent, which may point to potential therapeutic targets.

Treatment of Cleft Lip and Palate in the Amazon Region in Brazil: Speech Results and Sociodemographic Aspects.

To investigate the speech outcomes in individuals with cleft lip and palate (CLP) from the Amazon region and determine their correlation with sociodemographic factors. Cross-sectional, prospective, single-blind study. Tertiary care institute in Manaus, Amazonas, Brazil. Four hundred twenty individuals with CLP, aged 4 to 57 years. The samples were judged by 3 speech pathologists experienced in the speech assessment of individuals with CLP. Hypernasality was scored using a 4-point scale, being 1 = absent, 2 = mild, 3 = moderate, and 4 = severe, and the active speech symptoms were classified as absent or present. The final score for each speech symptom was reached by consensus among the 3 examiners Descriptive analysis of sociodemographic data included origin, socioeconomic status, type of cleft, surgical technique employed, the age they underwent primary and secondary palatoplasty, and palatal fistula. Absence of hypernasality was observed in 41% of the individuals, 18% had mild, 28% moderate, and 13% severe hypernasality. Active speech symptoms were observed in 57% of the individuals. Significant correlations were found between speech outcomes and the variables such as origin, socioeconomic status, age at primary and secondary palatoplasty, and presence of fistula. Most individuals with repaired CLP from the Amazon region presented speech disorders, characterized by hypernasality and active errors. Patients living outside the state capital, of low socioeconomic level, underwent palatoplasty late and with presence of palatal fistula tended to have the worst speech outcomes.

Association of Risk Factors With Patient-Reported Voice and Speech Symptoms Among Long-term Survivors of Oropharyngeal Cancer

Voice and speech production are critical physiological functions that affect quality of life and may deteriorate substantially after oropharyngeal cancer (OPC) treatment. There is limited knowledge about risk factors associated with voice and speech outcomes among survivors of OPC. To identify the risk factors of voice and speech symptoms among long-term survivors of OPC. This retrospective cohort study with cross-sectional survivorship survey administration includes cancer-free survivors of OPC who were treated curatively between January 2000 and December 2013 at MD Anderson Cancer Center (Houston, Texas) who participated in a survey from September 2015 to July 2016. Of 906 survivors of OPC with a median survival duration at time of survey of 6 years (range, 1-16 years), patient-rated voice and speech outcomes for 881 were available and analyzed. The data were analyzed from June 30, 2020, to February 28, 2021. The primary outcome variable was patient-reported voice and speech scores that were measured using the MD Anderson Symptom Inventory-Head and Neck Cancer Module. Voice and speech scores of 0 to 4 were categorized as none to mild symptoms, and scores of 5 to 10 were categorized as moderate to severe symptoms. Risk factors for moderate to severe voice and speech symptoms were identified by multivariable logistic regression. Among 881 survivors of OPC (median [range] age, 56 [32-84] years; 140 women [15.5%]; 837 White [92.4%], 17 Black [1.9%], and 35 Hispanic individuals [3.8%]), 113 (12.8%) reported moderate to severe voice and speech scores. Increasing survival time (odds ratio [OR], 1.17; 95% CI, 1.06-1.30) and increasing total radiation dose (OR, 1.16; 95% CI, 1.00-1.34), Black race (OR, 3.90; 95% CI, 1.02-14.89), Hispanic ethnicity (OR, 3.74; 95% CI, 1.50-9.35), current cigarette smoking at the time of survey (OR, 3.98; 95% CI, 1.56-10.18), treatment with induction and concurrent chemotherapy (OR, 1.94; 95% CI, 1.06-3.57), and late (OR, 7.11; 95% CI, 3.08-16.41) and baseline lower cranial neuropathy (OR, 8.70; 95% CI, 3.01-25.13) were risk factors associated with moderate to severe voice and speech symptoms. Intensity-modulated radiotherapy split-field regimen (OR, 0.31; 95% CI, 0.12-0.80; P = .01) was associated with lower likelihood of moderate to severe voice and speech symptoms. This large OPC survivorship cohort study identified many treatment-related factors, including increasing total radiotherapy dose, multimodality induction and concurrent chemotherapy regimens, and continued smoking, as well as clinical and demographic factors, as risk factors that were associated with moderate to severe voice and speech symptoms. The key findings in this study were the protective associations of split-field radiation and that longer-term survivors, and those who continued to smoke, had worse voice and speech symptoms. These findings may inform research and effective targeted clinical voice and speech preservation interventions and smoking cessation interventions to maximize voice and speech function and address quality of life among patients with OPC.

Speech Intensity Response to Altered Intensity Feedback in Individuals With Parkinson's Disease.

Purpose Hypophonia (low speech intensity) is the most common speech symptom experienced by individuals with Parkinson's disease (IWPD). Previous research suggests that, in IWPD, there may be abnormal integration of sensory information for motor production of speech intensity. In the current study, intensity of auditory feedback was systematically manipulated (altered in both positive and negative directions) during sensorimotor conditions that are known to modulate speech intensity in everyday contexts in order to better understand the role of auditory feedback for speech intensity regulation. Method Twenty-six IWPD and 24 neurologically healthy controls were asked to complete the following tasks: converse with the experimenter, start vowel production, and read sentences at a comfortable loudness, while hearing their own speech intensity randomly altered. Altered intensity feedback conditions included 5-, 10-, and 15-dB reductions and increases in the feedback intensity. Speech tasks were completed in no noise and in background noise. Results IWPD displayed a reduced response to the altered intensity feedback compared to control participants. This reduced response was most apparent when participants were speaking in background noise. Specific task-based differences in responses were observed such that the reduced response by IWPD was most pronounced during the conversation task. Conclusions The current study suggests that IWPD have abnormal processing of auditory information for speech intensity regulation, and this disruption particularly impacts their ability to regulate speech intensity in the context of speech tasks with clear communicative goals (i.e., conversational speech) and speaking in background noise.

WITHDRAWN: A benchmarking study of Parkinson's disease classification base on speech symptom features

In numerous prominent fields, such as e-business, communications, retail, and medical, information exploration in databases has built its success rate. The mining of medical data has immense potential to investigate the out-of-sight trends in the respective medical databases. This paper aims to provide a benchmarking analysis of the classification basis for Parkinson's disease (PD) on speech symptoms utilizing a data mining approach. The Mentation, Tasks of Everyday Life (ADL), Motor Analysis, and Therapy Symptoms will captivate various PD main signs. The speech symptom that is an ADL is a frequent cause for the disease's advancement. The dataset PD classification is accessed from UCI, an open archive of broad datasets of machine learning (ML). In this paper, a comparative review is carried out on various classification algorithms by adding the feature significance analysis and the accuracy analysis to the best classification algorithm. Subsequently, a collection of ML algorithms to classify PD are Averaged Perceptron (AP), Bayes Point Ma-chine (BPM), Boosted Decision Trees (BDT), Convolutional Neural Network (CNN), Decision Forest (DF), Logistic Regression (LR), Neural Network (NN), and Support Vector Machine (SVM). Each algorithm is tested and evaluated via a 5-fold cross-validation approach. The results show that the BDT achieves the highest accuracy of 90.03%, precision of 93.81%, recall of 93.32%, and AUC of 95.67. It outperforms all the other seven tested ML classifiers; nevertheless, the other classifiers also manage to produce high PD diagnosis results, which indicates the suitability of the speech analysis approach in PD diagnosis.

Functional Magnetic Resonance Imaging of Language Following Constraint-Induced Aphasia Therapy Primed with Intermittent Theta Burst Stimulation in 13 Patients with Post-Stroke Aphasia.

BackgroundAphasia is a debilitating consequence of stroke. This study aimed to investigate the role of functional magnetic resonance imaging (fMRI) activation changes during overt language tasks in promoting language improvements following constraint-induced aphasia therapy (CIAT) primed with intermittent theta burst stimulation (iTBS) in 13 patients with aphasia following ischemic stroke.Material/MethodsParticipants with post-stroke aphasia participated in CIAT primed with iTBS on 10 consecutive weekdays. They also underwent language testing and fMRI while performing overt language tasks at baseline (N=13), immediately post-treatment (N=13), and after 3 months (N=12). Outcome measures were compared between time points, and relationships between changes in language ability and fMRI activation were examined.ResultsWe observed improvements in naming (p<0.001), aphasia symptoms (p=0.038), apraxia of speech symptoms (p=0.040), perception of everyday communicative ability (p=0.001), and the number of spoken words produced during fMRI (p=0.028). Pre- to post-treatment change in naming was negatively correlated with change in right postcentral gyrus activation related to noun-verb associations (rho=−0.554, p=0.0497). Change in aphasia symptoms from immediately after to 3 months post-treatment was negatively correlated with change in bilateral supplementary motor area activation related to verbal encoding (rho=−0.790, p=0.0022).ConclusionsAphasia improvements coupled with fMRI activation changes over time provide support for treatment-induced neuroplasticity with CIAT primed with iTBS. However, a larger randomized sham-controlled study is warranted to confirm our findings and further our understanding of how iTBS can potentiate beneficial effects of language therapy in post-stroke aphasia.

Effects of tDCS on Sound Duration in Patients with Apraxia of Speech in Primary Progressive Aphasia.

Transcranial direct current stimulation (tDCS) over the left inferior frontal gyrus (IFG) was found to improve oral and written naming in post-stroke and primary progressive aphasia (PPA), speech fluency in stuttering, a developmental speech-motor disorder, and apraxia of speech (AOS) symptoms in post-stroke aphasia. This paper addressed the question of whether tDCS over the left IFG coupled with speech therapy may improve sound duration in patients with apraxia of speech (AOS) symptoms in non-fluent PPA (nfvPPA/AOS) more than sham. Eight patients with non-fluent PPA/AOS received either active or sham tDCS, along with speech therapy for 15 sessions. Speech therapy involved repeating words of increasing syllable-length. Evaluations took place before, immediately after, and two months post-intervention. Words were segmented into vowels and consonants and the duration of each vowel and consonant was measured. Segmental duration was significantly shorter after tDCS compared to sham and tDCS gains generalized to untrained words. The effects of tDCS sustained over two months post-treatment in trained and untrained sounds. Taken together, these results demonstrate that tDCS over the left IFG may facilitate speech production by reducing segmental duration. The results provide preliminary evidence that tDCS may maximize efficacy of speech therapy in patients with nfvPPA/AOS.

The Effects of Symptom Onset Location on Automatic Amyotrophic Lateral Sclerosis Detection Using the Correlation Structure of Articulatory Movements.

Purpose Kinematic measurements of speech have demonstrated some success in automatic detection of early symptoms of amyotrophic lateral sclerosis (ALS). In this study, we examined how the region of symptom onset (bulbar vs. spinal) affects the ability of data-driven models to detect ALS. Method We used a correlation structure of articulatory movements combined with a machine learning model (i.e., artificial neural network) to detect differences between people with ALS and healthy controls. The performance of this system was evaluated separately for participants with bulbar onset and spinal onset to examine how region of onset affects classification performance. We then performed a regression analysis to examine how different severity measures and region of onset affects model performance. Results The proposed model was significantly more accurate in classifying the bulbar-onset participants, achieving an area under the curve of 0.809 relative to the 0.674 achieved for spinal-onset participants. The regression analysis, however, found that differences in classifier performance across participants were better explained by their speech performance (intelligible speaking rate), and no significant differences were observed based on region of onset when intelligible speaking rate was accounted for. Conclusions Although we found a significant difference in the model's ability to detect ALS depending on the region of onset, this disparity can be primarily explained by observable differences in speech motor symptoms. Thus, when the severity of speech symptoms (e.g., intelligible speaking rate) was accounted for, symptom onset location did not affect the proposed computational model's ability to detect ALS.

Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome

The management of velopharyngeal insufficiency (VPI) in patients with 22q11.2 deletion syndrome (22q11DS) poses a significant clinical challenge due to presence of a large velopharyngeal gap and a relatively high rate of internal carotid artery (ICA) medialization. To our knowledge, we are the first group to have successfully managed VPI in a series of seven pediatric patients with 22q11DS with medialized ICAs via a novel surgical technique involving carotid artery mobilization followed by pharyngeal flap insertion. Thus far, we have found this technique to be reliably safe with no significant morbidity and caregivers have reported postoperative improvement in speech, swallowing and nasal regurgitation symptoms. Herein, we provide a detailed description of our novel surgical approach, including an instructional video, for correction of VPI in patients with medialized ICAs, who have previously had limited management options.

Síntomas Fononoaudiológicos y Síntomas no Motores en Pacientes con Enfermedad de Parkinson

Objetivo: Este estudio descriptivo se orientó a conocer el perfil clínico-epidemiológico de la Enfermedad de Parkinson y la coexistencia entre síntomas no motores y síntomas fonoaudiológicos. Método: La muestra estuvo conformada por 34 personas con Parkinson idiopático (26 hombres y 8 mujeres), cuyas historias clínicas fueron analizadas para describir la relación entre síntomas fonoaudiológicos, como la hipofonía, la disprosodia, la disartria y la disfagia, con síntomas no motores, tales como: trastornos gastrointestinales, depresión, trastornos del sueño y deterioro cognitivo. Resultados: Los resultados señalan que las personas con Parkinson tenían edades entre los 25 a los 86 años. En cuanto a la fase, se clasificaron en: estadio I el 11,7%, II el 17,6%, III el 47%, IV el 14,7% y V el 8,8%. El 47% llegó al servicio de Fonoaudiología en una etapa avanzada de la enfermedad de Parkinson. Los síntomas no motores más frecuentes fueron trastornos del sueño (67,6%), depresión (58,8%), alteraciones gastrointestinales (29,4%) y deterioro cognitivo (15%). Los síntomas fonoaudiológicos se distribuyeron así: disprosodia (38%), hipofonía (33%), disartria (18%) y disfagia (11%). Conclusión: los trastornos del sueño y la depresión podrían tener un mayor impacto negativo en el rendimiento fonoaudiológico de las personas con Parkinson.

Classification of ALS patients based on acoustic analysis of sustained vowel phonations

Amyotrophic lateral sclerosis (ALS) is incurable neurological disorder with rapidly progressive course. Common early symptoms of ALS are difficulty in swallowing and speech. However, early acoustic manifestation of speech and voice symptoms is very variable, that making their detection very challenging, both by human specialists and automatic systems. This study presents an approach to voice assessment for automatic system that separates healthy people from patients with ALS. In particular, this work focus on analysing of sustain phonation of vowels /a/ and/i/ to perform automatic classification of ALS patients. A wide range of acoustic features such as MFCC, formants, jitter, shimmer, vibrato, PPE, GNE, HNR, etc. were analysed. We also proposed a new set of acoustic features for characterizing harmonic structure of the vowels. Calculation of these features is based on pitch synchronized voice analysis. A linear discriminant analysis (LDA) was used to classify the phonation produced by patients with ALS and those by healthy individuals. Several algorithms of feature selection were tested to find optimal feature subset for LDA model. The study’s experiments show that the most successful LDA model based on 32 features picked out by LASSO feature selection algorithm attains 99.7% accuracy with 99.3% sensitivity and 99.9% specificity. Among the classifiers with a small number of features, we can highlight LDA model with 5 features, which has 89.0% accuracy (87.5% sensitivity and 90.4% specificity).

Functional Foreign Accent Syndrome in suspected Conversion Disorder: A case study

Background and objectivesWe provide a case analysis for a 28-year-old, native Dutch-speaking lady who developed Foreign Accent Syndrome (FAS), a few weeks after falling down the staircase. In addition to FAS, which gave the impression she spoke with a German accent, German(-like) words and structures occurred. Speech symptoms were aggravated by increased stress, fatigue or emotional pressure, and this triggered jargon speech. It was hypothesized her FAS and jargon developed on a functional basis. MethodsIn-depth analyses of the patient’s medical background, neuropsychological and neurolinguistic tests and psychodiagnostic exams were done. The patient participated in an fMRI experiment. In a syllable repetition paradigm, motor speech activations were compared to those of healthy individuals, to see whether they were altered, which would be expected in case of a neurological etiology. ResultsMedical history disclosed prior traumatic experiences for which she sought help, but no neurological incidents. Repeated neuropsychological and neurolinguistic tests showed deficits in recent memory and executive functioning. The patient demonstrated great difficulties with picture naming. Clinically, language switching and mixing as well as recurring jargon speech was found. Formal psychodiagnostic tests did not identify a clear disorder, but psychodiagnostic interviews were consistent with a DSM-5 conversion disorder. The fMRI study demonstrated that speech network activations corresponded to those found in healthy participants. ConclusionThe clinical neurolinguistic characteristics, outcome of the fMRI experiment, together with the clinical psychodiagnostic findings were strongly indicative for an underlying functional etiology for the FAS and jargon speech, presenting as symptoms of conversion disorder.

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Hemiplegic migraine (HM) is a rare migraine disorder with aura subtype including temporary weakness and visual, sensory, and/or speech symptoms. To date, three main genes—CACNA1A, ATP1A2, and SCN1A—have been found to cause HM. These encode ion channels or transporters, important for regulating neuronal ion balance and synaptic transmission, leading to HM being described as a channelopathy. However, <20% of HM cases referred for genetic testing have mutations in these genes and other genes with roles in ion and solute transport, and neurotransmission has also been implicated in some HM cases. In this study, we performed whole exome sequencing for 187 suspected HM probands referred for genetic testing, but found to be negative for CACNA1A, ATP1A2, and SCN1A mutations, and applied targeted analysis of whole exome sequencing data for rare missense or potential protein-altering variants in the PRRT2, PNKD, SLC1A3, SLC2A1, SLC4A4, ATP1A3, and ATP1A4 genes. We identified known mutations and some potentially pathogenic variants in each of these genes in specific cases, suggesting that their screening improves molecular diagnosis for the disorder. However, the majority of HM patients were found not to have candidate mutations in any of the previously reported HM genes, suggesting that additional genetic factors contributing to the disorder are yet to be identified.

Classification of Manifest Huntington Disease using Vowel Distortion Measures.

Huntington disease (HD) is a fatal autosomal dominant neurocognitive disorder that causes cognitive disturbances, neuropsychiatric symptoms, and impaired motor abilities (e.g., gait, speech, voice). Due to its progressive nature, HD treatment requires ongoing clinical monitoring of symptoms. Individuals with the Huntingtin gene mutation, which causes HD, may exhibit a range of speech symptoms as they progress from premanifest to manifest HD. Speech-based passive monitoring has the potential to augment clinical information by more continuously tracking manifestation symptoms. Differentiating between premanifest and manifest HD is an important yet under-studied problem, as this distinction marks the need for increased treatment. In this work we present the first demonstration of how changes in speech can be measured to differentiate between premanifest and manifest HD. To do so, we focus on one speech symptom of HD: distorted vowels. We introduce a set of Filtered Vowel Distortion Measures (FVDM) which we extract from read speech. We show that FVDM, coupled with features from existing literature, can differentiate between premanifest and manifest HD with 80% accuracy.

Folinic Acid as Adjunctive Therapy in Treatment of Inappropriate Speech in Children with Autism: A Double-Blind and Placebo-Controlled Randomized Trial

This is a double-blind, placebo-controlled randomized trial to investigate the potential therapeutic effects of folinic acid/placebo as an adjuvant to risperidone on inappropriate speech and other behavioral symptoms of autism spectrum disorder (ASD). Fifty-five ASD children (age (mean ± standard deviation) = 13.40 ± 2.00; male/female: 35/20) were evaluated for behavioral symptoms at baseline, week 5, and week 10 using the aberrant behavior checklist-community (ABC-C). Folinic acid dosage was 2mg/kg up to 50mg per day for the entire course of the study. The repeated measures analysis showed significant effect for time × treatment interaction on inappropriate speech (F = 3.51; df = 1.61; P = 0.044), stereotypic behavior (F = 4.02; df = 1.37; P = 0.036), and hyperactivity/noncompliance (F = 6.79; df = 1.66; P = 0.003) subscale scores. In contrast, no significant effect for time × treatment interaction was found on lethargy/social withdrawal (F = 1.06; df = 1.57; P = 0.336) and irritability (F = 2.86; df = 1.91; P = 0.064) subscale scores. Our study provided preliminary evidence suggesting that folinic acid could be recommended as a beneficial complementary supplement for alleviating speech and behavioral symptoms in children with ASD.Clinical trial registeration: This trial was registered in the Iranian Registry of Clinical Trials ( www.irct.ir ; No. IRCT20090117001556N114).

Voice and Speech Disorders in Alzheimer’s Disease: A State-of-the-Art Review

Alzheimer’s disease is the most common type of dementia in the world. This manuscript attempts to review the current knowledge of neurolaryngology and speech and language therapy in Alzheimer’s disease in order to distinguish it from other neurodegenerative diseases. Only a limited number of studies carried out on Alzheimer’s disease patients with speech or laryngeal disorders are found in the literature. Laryngeal (dysphonia, dysphagia, dry mucosa…) and speech symptoms (aphasic, rhythm alterations…) appear to exist even in the early stage of Alzheimer’s disease, though not very prominently nor specifically. Prospective studies with large cohorts are warranted to further validate these findings in order to help us distinguish between Alzheimer’s disease and other neurodegenerative disorders .