Speech technologies, such as automatic speech recognition or spoken language understanding, are not usually adapted to atypical speech, i.e., the speech of people with dysarthria, dysphonia, or another type of speech impairment. That prevents atypical speakers from leveraging speech assistants or other human-machine-interaction-powered platforms, which could make their lives easier or increase their independence. In this article, we present HeyJay!, a new corpus of atypical speech in English language from participants with neurodegenerative disorders, including Parkinson's Disease, or Amyotrophic Lateral Sclerosis. The current corpus version comprises 8,669 utterance recordings, including supervised transcriptions and intent annotations. In this study, we demonstrate the validity of the corpus by applying it to automatic speech recognition, spoken language understanding, and data augmentation tasks. Additionally, the dataset includes speech quality ratings for each participant, performed by expert speech and language pathologists. This corpus, the first one with intent annotation of atypical speech that is publicly available, is intended to create more fair speech technologies for atypical speakers by adapting and improving the state of the art, and to facilitate further research in the field.

Introduction - Dystonia is the third most common movement disorder, which is highly diverse, both clinically and genetically. With the rise of next-generation sequencing, the number of genes associated with dystonia is increasing. Genetic testing is particularly important to predict the effectiveness of widely used therapeutic approaches (e.g., deep brain stimulation/DBS).Case report - The symptoms of a 69-yearold female patient began at the age of 18 years. Her symptoms developed gradually, i.e., cervical abnormal postures and movements first, followed by tongue movement problems, writer's cramp and speech difficulty. At the age of 38, she became severely disabled. During the neurological examination, generalized dystonia as well as occasional choreoathetoid movement elements on the upper limbs were observed. We noticed dysphagia, dysarthria and occasional oro-facial and cervical dyskinesia. Brain magnetic resonance imaging demonstrated minimal cortical atrophy. The whole exome sequencing analysis detected a heterozygous pathogenic nonsense mutation in the VPS16 gene. The patient is currently receiving clonazepam therapy with moderate symptom relief. Trihexyphenidyl treatment has not been attempted because the significant side effects of the previously tried anticholinergic drug. Although DBS was offered, the patient refused this treatment.Conclusion - Dystonia caused by mutation of the VPS16 gene (autosomal dominant) is a recently recognized new form of hereditary dystonia. The disease is characterized by early-onset progressive, generalized dystonia, with the predominant involvement of orofacial, bulbar, cervical and upper limb regions. Currently there is no clear recommendation for treatment, however, beneficial effects of DBS as well as botulinum toxin have been reported.

Hypokinetic dysarthria in Parkinson's disease provides an accessible non-invasive biomarker, but multi-class severity grading remains difficult because of overlapping acoustic patterns and limited long-range temporal modeling in existing approaches.

Partial locked-in syndrome (PLIS) is a rare stroke presentation in which preserved consciousness is masked by severe motor impairment, potentially leading to misinterpretation as encephalopathy. We report a patient in her early seventies with vascular risk factors and a prior pontine infarct who presented with acute quadriplegia and mutism. Initial clinical impressions raised concern for altered mental status. However, subsequent neurological examination demonstrated preserved awareness, with consistent eye tracking and command following through head movements. Examination showed bifacial and bulbar weakness, severe dysarthria, and minimal right arm movement. MRI demonstrated new infarcts in the left cerebral peduncle, posterior limb of the internal capsule, thalamus, and temporal lobe, superimposed on a prior pontine lesion. This distributed but strategically located pattern of injury affected bilateral corticospinal pathways and explained the profound motor impairment despite preserved consciousness. This case highlights how PLIS may mimic encephalopathy in the acute care setting and underscores the importance of structured bedside assessment for detecting preserved awareness in mute or immobile patients. Early recognition has implications for airway management, stroke evaluation, communication strategies, and prognostic counseling.

Data on neuro-Behçet's disease in North Africa remain limited and fragmented. We conducted a systematic review and meta-analysis to estimate the frequency of neurologic involvement in North African patients with Behçet's disease and to summarize the main clinical, cerebrospinal fluid, and imaging characteristics. PubMed, Scopus, and Web of Science databases were searched for studies reporting neuro-Behçet's disease in North Africa. Proportions were pooled using a random-effects meta-analysis model to estimate overall pooled proportions (OPP). Heterogeneity was assessed using I[2] statistics. The review protocol was registered in PROSPERO (CRD420261303759). Thirteen studies were included. Among 4262 patients with Behçet's disease, the pooled proportion of Neuro-Behçet's disease was 18.54% (95% CI 13.93% - 24.25%). The overall pooled proportions of parenchymal Neuro-Behçet's disease was 69.19% of cases (95% CI 58.79% - 77.96%). The main neurological symptoms were pyramidal signs (OPP 68.02%; 95% CI 35.27% - 89.25%), headaches (OPP 44.24%; 95% CI 23.16% - 67.63%), dysarthria/speech impairment (OPP 26.72%; 95% CI 13.49% - 46.02%), and cerebellar signs (OPP 23.60%; 95% CI 11.69% - 41.89%). Non-parenchymal involvement was mainly vascular, particularly cerebral venous thrombosis (OPP 25.92%; 95% CI 17.29% - 36.93%). Peripheral neuropathy was also reported (OPP 2.78%; 95% CI 1.22% - 6.24%). Neurological involvement in Behçet's disease is frequent in North Africa with a predominance of parenchymal forms. This first comprehensive meta-analysis benchmarks North African Neuro-Behçet's disease against global patterns and supports integrated clinical diagnosis over reliance on imaging alone.

The deployment of Artificial intelligence (AI) in clinical speech applications has been limited in large part by the lack of interpretability, which is essential for establishing clinician trust and enabling effective decision support. Although methods such as SHapley Additive exPlanations (SHAP) aim to improve transparency in many clinical domains, their applicability to clinical speech-language pathology practice is uncertain. Since these methods rely on data modalities like acoustic signal features and spectrograms, which are unfamiliar to clinicians and misaligned with clinical workflows, the resulting interpretations may introduce additional burden and bias rather than provide clinically meaningful insight. To better understand this challenge, we conducted two consecutive user studies to systematically evaluate a commonly used SHAP-based interpretation design (a bar chart showing the influence of acoustic features on AI decisions) in dysarthria detection. Building on our prior works, eight factors were examined: faithfulness, computational efficiency, cognitive load, human-AI task performance, mental model, user trust, clinical understandability, and decision relevance. The results reveal a previously unrecognized risk in current interpretation practices. The seemingly intuitive bar-chart design frequently misled participating speech-language pathology (SLP) students to interpret feature influence as an indicator of clinical severity. Other findings include difficulty understanding AI mechanisms, discrepancies between human and model reasoning, and the limited ability of interpretations to address clinical questions. Through this work, we highlight the need for interpretation designs that are more closely aligned with clinical reasoning patterns and suggest practical considerations for developing speech-based AI systems that can be meaningfully integrated into clinical practice.

This study investigates Voice Onset Time (VOT) in Urdu - English bilingual speakers with and without dysarthria, with a specific focus on differential vulnerability of positive and negative VOT. Acoustic analyses were conducted on English word-initial plosives produced by 30 speakers with dysarthria and 30 neurologically healthy controls. Non-parametric analyses revealed that dysarthria-related timing disruptions were concentrated in pre-voiced lenis plosives (/b, d, g/), while voiceless plosives (/p, t, k/) showed no consistent group-level differences. Subtype analyses indicated distinct pre-voicing patterns across flaccid, spastic, ataxic, and mixed dysarthria, with the largest effects observed for velar stops. These findings suggest that dysarthria selectively compromises the laryngeal - supralaryngeal coordination required for sustained voicing during closure. The results highlight negative VOT as a sensitive acoustic marker of dysarthric impairment and underscore the value of mechanism-focused, distribution-sensitive analyses in clinical phonetics.

Snakebite remains a cause of morbidity in tropical regions, with viperid venoms typically causing local tissue injury (edema, bleeding, ecchymoses), vasculotoxicity, coagulopathy, and acute kidney injury. Delayed immune-mediated encephalopathies are uncommon. We report a 49-year-old woman from Birbhum district, West Bengal, India, who sustained a bite from a Russell's viper in June 2025 (rainy season). She developed vasculotoxic envenoming and acute kidney injury requiring hemodialysis for 5 days, followed by apparent systemic recovery and discharge. Seven days later, she developed abrupt scanning dysarthria, gait ataxia, and oscillopsia. Brain MRI on day 14 demonstrated multifocal T2/FLAIR hyperintensities involving the left cerebellar hemisphere, left frontoparietal cortex, bilateral basal ganglia, and periventricular white matter, without diffusion restriction, hemorrhage, or vascular occlusion. Cerebrospinal fluid showed albuminocytologic dissociation. High-dose intravenous methylprednisolone (1 g/day for 5 days) led to improvement by day 3 and independent ambulation by day 20. Follow-up MRI at 16 weeks showed marked resolution of MRI abnormalities, mirroring clinical recovery, although mild nystagmus persisted at 20 weeks. The temporal dissociation from acute envenoming, the absence of systemic illness or metabolic derangement, and the marked radiologic resolution argue against a persistent direct venom effect and instead favor a secondary, immune-mediated, or delayed toxic phenomenon. Albuminocytologic dissociation may reflect transient barrier dysfunction with increased permeability and, in viper envenoming complicated by acute kidney injury, systemic endothelial injury, including snakebite-associated thrombotic microangiopathy, could be a contributing mechanism. This case highlights the need for vigilance for delayed multifocal encephalopathy after vasculotoxic snakebite and supports prompt MRI and cerebrospinal fluid evaluation of new post-discharge neurological symptoms, as early high-dose corticosteroids may be crucial in this potentially reversible condition.

L-2-hydroxyglutaric aciduria (L2HGA) is a rare, slowly progressive, autosomal recessive neurometabolic disorder caused by mutations in the L2HGDH gene and characterized by psychomotor developmental delay, cognitive impairment, epilepsy, dystonia, cerebellar ataxia, tremor, dysarthria, pyramidal signs, macrocephaly, leukoencephalopathy, and elevated L-2-hydroxyglutaric acid levels. To date, no case has been reported of a patient with L2HGA caused by the c.905C>T variant in L2HGDH presenting with epilepsy, tetraspasticity, tetraataxia, dysarthria, and dysmorphism, but without cognitive impairment or gait disturbance. The patient is a 22-year-old man from Syria with L2HGA, born to consanguineous parents, who presented with rare generalized seizures, mild tetraspasticity, tetraataxia, dysarthria, facial dysmorphism, and unilateral cryptorchism. His psychomotor development was normal. Cerebral MRI at the age of 18 revealed marked leukoencephalopathy, but no atrophy or involvement of the basal ganglia. Surprisingly, he showed no cognitive impairment, gait disturbances, or macrocephaly. He led an independent life as a mechanic and drove his own car. This case broadens the phenotypic spectrum of L2HGA and demonstrates that the c.905C>T variant in the L2HGDH gene can manifest phenotypically with only mild symptoms and without cognitive deficits or gait abnormalities. It also shows that some of these features may not be present in childhood but may develop only during adolescence or adulthood.