The increasing number of diagnoses of anxiety disorders has highlighted the need for discussions about anxiety in its affective, psychopathological, and mundane dimensions. This scoping review mapped 36 scientific articles (2014-2025) to analyze how Phenomenology contributes to the understanding of anxiety as a global phenomenon. The results highlight trends in the field in 4 discursive categories. For authors of Phenomenological Psychopathology, anxiety is understood as a global alteration of being-in-the-world, characterized by disturbances in temporality (dysrhythmia, narrowing of the future), spatiality (feeling of invasion/avoidance), and intersubjectivity (hypervigilance towards others). In specific conditions such as social anxiety and OCD, anxiety appears as a way for the subject to deal with anguish and uncertainty. In phenomenological philosophy, anxiety (or anguish) is considered a human and existential phenomenon, enabling a confrontation with incompleteness and freedom. The clinical directions of the collected articles point to the ways in which clinical contact can, by enabling contact with uncertainty, pave the way for a creative production of meaning. The review concludes that, although the articles start from different focuses on anxiety, there is an observable tendency in strands of production understanding anxiety as a way of inhabiting the world. However, a gap is identified in the literature regarding the articulation of these phenomenological conceptions with the specific sociocultural contexts of contemporary times.

Many acoustic speech metrics often reflect a combination of respiratory, laryngeal, and articulatory contributions, thereby preventing direct measurement of articulatory dynamics. We have developed an articulatory weakness index (AWI) derived from electromagnetic articulography (EMA) or acoustic data. We learn an articulatory-state coordinate Z a from healthy EMA data, where higher values indicate restricted articulator motion. In cohorts of individuals with Parkinson's disease (PD) and controls, AWI is elevated in PD and correlates with motor severity, while remaining stable across in healthy controls and speakers with vocal hyperfunction. AWI provides an interpretable, disentangled articulatory weakness index from acoustic speech recordings, complementing respiratory and laryngeal measures.

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome or basal cell naevus syndrome, is a rare hereditary cancer-predisposition disorder most often caused by disruption of the Hedgehog signaling pathway, particularly alterations of PTCH1. Classical disease is characterized by multiple or early-onset basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, skeletal anomalies and intracranial calcifications. Deletions involving chromosome region 9q22.3 may create an overlapping but broader phenotype because the deleted interval may include PTCH1 together with neighboring genes. Hereby we report a 15-year-old female patient with developmental disability, including a specific speech articulation disorder, who presented with multiple facial erosions, scars, milia, papulo-nodular lesions and palmar pitting. Dermoscopy demonstrated arborizing vessels, blue-gray ovoid nests, brown dots, ulceration, white scales and shiny white perpendicular lines. Surgical excision of selected lesions was performed, and histopathology confirmed basal cell carcinoma in three specimens, reported as carcinoma basocellulare. Additional findings included a nasal-root dermoid cyst excised in early childhood, strabismus, conductive hearing loss, kyphoscoliosis and a kinked aorta. Multiplex ligation-dependent probe amplification (MLPA) using the SALSA MLPA Probemix P245-A2 Microdeletion Syndromes-1 (MRC-Holland, Amsterdam, The Netherlands) demonstrated a deletion involving the PTCH1 region at chromosome 9q22.3. This case is highly suggestive of a PTCH1-region deletion presenting with a Gorlin-Goltz phenotype, with additional extracutaneous findings that may reflect involvement of the wider 9q22.3 region; because MLPA cannot delineate deletion boundaries or confirm loss of neighboring genes, this broader interpretation remains presumptive pending array-based confirmation. The occurrence of multiple basal cell carcinomas in adolescence should prompt evaluation for inherited tumor-predisposition syndromes. When extracutaneous developmental or congenital abnormalities are present, genetic testing capable of detecting and mapping copy-number variants should be considered.

The pathophysiology underlying Parkinson's disease (PD) speech impairments and its potential sex differences remain unclear. We investigated sex-specific alterations in speech and striato-cortical networks in 104 patients with early PD (68M/36F), and 44 healthy controls (23M/21F), using quantitative speech markers and multimodal neuroimaging. Speech features related to prosody, phonation, articulation, fluency, and rhythm, were extracted from voice recordings; striatal dopaminergic loss was quantified using DaT-SPECT, and functional connectivity between striatal and cortical language networks was analyzed with resting-state fMRI. Results showed that PD-related speech impairments were more pronounced in males. Functional connectivity was globally reduced in PD, but female patients exhibited higher caudate-cortical connectivity. In males, speech deficits were associated with both dopaminergic loss and connectivity disruption, whereas in females, only connectivity changes were involved. These findings revealed sex-specific pathophysiological mechanisms in early PD speech disorders, emphasizing the need for sex-stratified approaches in research and clinical practice.

This study examined the contribution of semantic and phonological working memory (WM) to lexical-semantic planning during language production for individuals tested acutely after left-hemisphere stroke. Participants completed tasks assessing phrase and sentence production, single-word retrieval, semantic and phonological WM, and single-word input processing. Using a constrained production paradigm that manipulated structure (phrase vs. sentence) and number of adjectival modifiers (one vs. two), we found that semantic WM capacity, indexed by performance on a category probe task, predicted accuracy in producing phrases containing multiple content words, even after controlling for single-word processing abilities. In contrast, phonological WM capacity, indexed by performance on a digit matching span task, did not relate to production accuracy. The relation to semantic WM was specific to the condition with the largest number of content words within a phrase (two-adjective noun phrase). These findings support the contention that lexical-semantic planning occurs phrase by phrase and is constrained by the capacity of a semantic maintenance buffer that supports activation and maintenance of multiple lexical-semantic representations prior to articulation. In contrast, phonological planning appears to operate within a narrower window that makes few demands on phonological WM. The results converge with prior neuropsychological evidence linking semantic WM to phrase-level planning and further imply that the phrase serves as the default scope of lexical-semantic encoding in production. Implications for models of WM and language production are discussed.

Mutations in the NKX2-1 gene cause a syndromic disorder affecting the brain, thyroid, and lungs. There are few case reports in the literature discussing the association between NKX2-1 gene mutation and neurodevelopmental disorders. In this case report, a 12-year-old girl with an NKX2-1 gene mutation, articulation disorder, and specific learning disorder is presented. This report discusses the potential neurodevelopmental risks associated with NKX2-1 mutations. Future research may further clarify the potential co-occurrence of these conditions, contributing to a more comprehensive understanding of the syndrome's components.

Mental imagery is a hallmark of human cognition, yet its neural mechanisms remain poorly understood. Speech imagery (the internal simulation of speech without overt articulation) has been proposed to partially share substrates with speech production, but its spatiotemporal dynamics remain controversial. Here, we leveraged high-resolution electrocorticography to investigate shared and modality-specific coding of articulatory kinematic trajectories during speech imagery and articulation. Linear modeling revealed robust articulatory kinematic trajectories encoding in frontoparietal cortex across modalities. Supramodal populations across middle premotor, subcentral and postcentral-supramarginal regions exhibited spatiotemporal stability during integrative planning. In contrast, modality-specific populations for speech imagery and articulation were somatotopically interleaved in primary sensorimotor cortex, revealing a distinct spatiotemporal organization. We further developed a generalized decoding framework that achieved high prediction accuracy for speech imagery (median 80.4%; chance 16.7%), comparable to speech articulation (78.3%). These findings uncover a somato-cognitive organization linking supramodal planning with modality-specific representations, informing imagery-based brain-computer interfaces.

ObjectiveTo investigate degree of speech improvement and adverse effects after secondary velopharyngeal dysfunction (VPD) surgery in individuals with cleft palate with or without cleft lip/alveolus (CP ± L), and to examine whether any patient- or treatment-related factors were associated with treatment efficacy.DesignRetrospective intervention study.SettingA regional public care university hospital in Sweden.Patients, ParticipantsSeventy-eight children and adolescents born with CP ± L who had undergone secondary VPD surgery between 2007 and 2024.InterventionsSecondary pharyngoplasty or palatoplasty.Main Outcome MeasuresBlinded pre- and postoperative perceptual assessments by 4 independent speech language pathologists of hypernasality, nasal airflow errors, weak articulation, velopharyngeal competence (VPC), and speech acceptability.ResultsThere were statistically significant improvements by 1 unit in median ratings of all speech variables after VPD surgery. Sixty percent had improved hypernasality, 54% had improved VPC, and 59% had improved acceptability. Of participants with moderate-severe preoperative hypernasality, hypernasality improved for 81%. Odds of improved hypernasality were significantly lower for participants with than without additional conditions (odds ratio [OR] = 0.20, 95% confidence interval [CI] = 0.05-0.81). There were no statistically significant associations between odds of improved speech ratings and age at intervention or presence of neurodevelopmental disorders.ConclusionsSpeech ratings significantly improved after VPD surgery. Hypernasality was more likely to improve for patients with moderate-severe hypernasality than those with mild hypernasality. Hypernasality was also less likely to improve in patients with than without additional conditions. These results can be used to tailor surgical decision making for patients with CP ± L.

Paroxysmal dysarthria-ataxia syndrome (PDAS) is a rare neurological syndrome initially described in Multiple Sclerosis (MS) and subsequently reported in other conditions. This systematic review focuses on acquired forms of PDAS associated with structural or immune-mediated aetiologies. After screening 3802 articles, 25 studies (31 patients) were included. Twenty-two patients (71%) were male, and the mean age of PDAS onset was 52 years. The most frequent diagnosis was MS, observed in 12 patients (39%), followed by anti-contactin associated protein receptor 2 encephalitis in 6 cases (19%). Lesions were most commonly located in the midbrain, reported in 20 patients (65%). Both the duration and frequency of PDA episodes varied greatly. Outcomes were favorable, with complete resolution of symptoms after pharmacological treatment in 29 patients (93%). Treatment mainly consisted of antiepileptic drugs (AEDs), most commonly carbamazepine, used in 14 patients (45%). These findings show that PDAS is not exclusively associated with MS and that, when treated, its prognosis is generally very good.