Dysarthria

Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caused by POLR3A mutation. The proband (IV6) in this family mainly showed progressive cognitive decline, dentin dysplasia, and hypogonadotropic hypogonadism. Her three old brothers (IV1, IV2, and IV4) also had different degrees of ataxia, dystonia, or dysarthria besides the aforementioned manifestations...

We retrospectively analyzed data from 15 patients, with a normal pre-operative cognitive performance, undergoing awake surgery for left fronto-temporal low-grade glioma. We combined a pre-surgical measure (fMRI maps of motor- and language-related centers) with intra-surgical measures (MNI-registered cortical sites data obtained during intra-operative direct electrical stimulation, DES, while they performed the two most common language tasks: number counting and picture naming). Selective DES effects along the precentral gyrus/inferior frontal gyrus (and/or the connected speech articulation network) were obtained...

Strokes are prevalent, although only some impact the pons, a brainstem region that performs essential functions. Because pontine infarcts are uncommon, there isn't sufficient research to back up efficient therapies that give patients functional advantages. This case report presents a 75-year-old male who was brought to the casualty with a history of falls and developed weakness on the left side of the body, dysarthria, and dysphagia, for which he was referred to the neurophysiotherapy department after performing the necessary investigations...

INTRODUCTION: Vowel production in dysarthria tends to be centralized, which is affected by many factors. This study examined the acoustic effects of speaker sex, tones, and speech samples (including sustained vowels, syllables, and sentences) and their interactions on vowel production in Mandarin speakers with post-stroke spastic dysarthria. METHODS: 28 patients with post-stroke spastic dysarthria (18 males, 10 females) and 21 healthy speakers (11 males and 10 females) with no significant difference in sex and age with dysarthria were recruited...

The Voiceitt app is designed for people with dysarthric speech, to support vocal communication and access to voice-driven technologies. Sixty-six participants were recruited to test the Voiceitt app and share feedback with developers. Most had physical, sensory, or cognitive impairments in addition to atypical speech. The project team liaised with individuals, their families and local support teams to provide access to the app and associated equipment. Testing was user-led, with participants asked to identify and test use cases most relevant to their daily lives over three months or more...

Brain abscess is a rare complication of esophagogastro- duodenoscopy (EGD) with few reported cases in the literature. In this report, we discuss a patient presenting with altered mental status, headache, and dysarthria due to brain abscess caused by S. intermedius shortly after an EGD with an esophageal biopsy showing a new diagnosis of eosinophilic esophagitis. We highlight the rare association of EGD and brain abscess, and discuss the importance of prompt diagnosis and treatment.

Bickerstaff brainstem encephalitis (BBE) is a rare autoimmune disease characterized by the subacute onset of bilateral external ophthalmoplegia, ataxia, and decreased level of consciousness. BBE is part of a group of rare autoimmune diseases in children that can affect the nervous system at any level. The onset of neurological deficits is often sudden and nonspecific. The diagnosis is based on clinical findings and abnormal findings on cerebrospinal fluid (CSF), electroencephalography (EEG), electromyography (EMG), and magnetic resonance imaging (MRI)...

BACKGROUND: Essential tremor (ET) affects numerous adults, impacting quality of life (QOL) and often defying pharmacological treatment. Surgical interventions like deep brain stimulation (DBS) and lesional approaches, including radiofrequency, gamma-knife radiosurgery, and magnetic resonance imaging (MRI)-guided focused ultrasound, offer solutions but are not devoid of limitations. OBJECTIVES: This retrospective, single-center, single-blinded pilot study aimed to assess the safety and efficacy of unilateral MRI-guided laser interstitial thermal therapy (MRIg-LITT) thalamotomy for medically intractable ET...

PURPOSE: Changes in voice and speech are characteristic symptoms of Huntington's disease (HD). Objective methods for quantifying speech impairment that can be used across languages could facilitate assessment of disease progression and intervention strategies. The aim of this study was to analyze acoustic features to identify language-independent features that could be used to quantify speech dysfunction in English-, Spanish-, and Polish-speaking participants with HD. METHOD: Ninety participants with HD and 83 control participants performed sustained vowel, syllable repetition, and reading passage tasks recorded with previously validated methods using mobile devices...

Background: Patients with facial paralysis often report frustration with communication; however, there are limited data regarding intelligibility deficiencies. Objective: To compare speech intelligibility in patients with severe and non-severe facial paralysis, and in patients with or without synkinesis. Methods: Video and audio data were reviewed retrospectively. Groups were stratified as follows: Group A - severe paralysis (Sunnybrook 0-20) without synkinesis; Group B - non-severe (Sunnybrook >20) paralysis without synkinesis; and Group C - non-severe paralysis with synkinesis...

Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia, hemianesthesia, and homonymous hemianopsia. The aim of this study is to document the characteristic clinical presentation and course of AChA infract cases. We describe five cases with acute infarction in the distribution of the AChA, admitted to the Neurological Department of the University General Hospital of Larissa. Results: All cases presented with hemiparesis and lower facial nerve palsy, while four of them had dysarthria, and two patients exhibited ataxia...

BACKGROUND: Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria...

Primary T-cell lymphoma (TCL) of the central nervous system (CNS) is a rare and potentially aggressive entity. We describe a case of TCL presenting in the basal ganglia with γδ receptor expression and a remarkably aggressive clinical course. To the best of our knowledge, this is the fifth reported case of γδ TCL presenting in the CNS. We review existing literature, including the previously reported cases of γδ TCL of the CNS. In our case, a 69-year-old male presented with acute onset dysarthria and right-sided weakness, with initial imaging concerning for stroke...

Lateral medullary infarction (LMI), or Wallenberg syndrome, can develop various symptoms, but it is rare that ipsilateral axial lateropulsion (or body lateropulsion, BL) or atonic bladder (AB) are caused by LMI. This report describes a case of LMI with both BL and AB. A 77-year-old man, with a history of hypertension and diabetes, developed acute left BL and anuresis. A neurological exam showed right gaze nystagmus, slight dysarthria and dysphagia, right dysesthesia in the trunk, and ataxia in the left limbs and trunk...

PURPOSE: The primary objective of this study was to explore the effects of intensive voice-focused treatment on speech parameters in Spanish speakers with dysarthria associated with Parkinson's disease (PD) as perceived by naïve listeners. METHOD: Fifteen Spanish speakers with dysarthria associated with PD received the Lee Silverman Voice Treatment (LSVT LOUD) for a month. Voice and speech recordings were conducted pretreatment, posttreatment, and at a 1-month follow-up...

PURPOSE: Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior literature. We conducted an auditory-perceptual analysis of speech production skills in low and minimally verbal autistic individuals as a step toward clarifying the nature of speech production impairments in this population and the potential link between oromotor functioning and language development. METHOD: Fifty-four low or minimally verbal autistic individuals aged 4-18 years were video-recorded performing nonspeech oromotor tasks and producing phonemes, syllables, and words in imitation...

PURPOSE: The purpose of this qualitative interview study was to identify themes regarding considerations in the usage of speech amplification device usage for people with Parkinson's disease (PD) and hypophonia from the perspective of speech-language pathologists (SLPs). METHOD: Eligible participants included SLPs currently practicing in the United States or Canada with experience working with clients with PD for at least 2 years. Ten SLPs participated in 60-min interviews conducted via Zoom...

Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old boy with FA who developed an abrupt onset of hemiplegia and dysarthria. The diagnosis of moyamoya disease (MMD) was suggested by magnetic resonance angiography (MRA) which demonstrated severe stenosis in the right internal carotid artery along with collateral vessel formation in the right basal ganglia. It is questioned whether the moyamoya pattern in this case is part of congenital malformations associated with FA or is the result of recurrent bleedings around the carotid siphon...

We present a rare case of irinotecan-induced transient dysarthria in a 60-year-old female undergoing FOLFIRI (folinic acid (leucovorin), fluorouracil (5-FU), and irinotecan) chemotherapy for metastatic colorectal cancer. In eight out of the 12 cycles, an isolated, self-limiting "lingual dysarthria" with tongue stiffness consistently occurred during infusion and resolved promptly upon completion. Cranial imaging done during the initial episode and after the completion of the chemotherapy regimen were unremarkable...

BACKGROUND: Dysarthria is a common post-stroke 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 post-stroke dysarthria. OBJECTIVE: 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 post-stroke dysarthria...