Frontiers in Integrative Neuroscience最新文献

Mitochondrial encephalomyopathy is a complex disorder with heterogeneous clinical manifestations that often complicate its clinical diagnosis. We report the first documented case of a 52-year-old woman harboring a novel and rare genotypic combination: the m.10158T>C point mutation together with a 12.8-kb large-scale mtDNA deletion. After a protracted diagnostic course involving multiple prior misdiagnoses, the definitive diagnosis was ultimately established through integrated genetic, histopathological, and neuroimaging evaluation. This case underscores both the diagnostic challenges in mitochondrial disorders and the critical need for systematic differentiation from common neurological mimics such as encephalitis and stroke.

Many skills necessary to perform activities of daily living require individuals to think and move at the same time; otherwise known as cognitive-motor integration (CMI). An upper extremity CMI task has shown how CMI performance changes with age, neurotrauma, and sport experience; however, the majority of movements required for activities of daily living extend beyond the upper extremity. Therefore, the purpose of this pilot study was to compare a full-body balance-related CMI task with the validated upper extremity task. Twenty-nine young healthy adults [24.3 ± 5.1 years (SD); 12 females] completed 2 CMI tasks to assess upper extremity CMI and full-body CMI. In general, both CMI tasks varied in difficulty, ranging from congruent interactions with targets, to incongruent interactions which included visual feedback reversal (requiring increased CMI). Performance in both tasks were quantified using reaction time (RT), movement time (MT), and normalized path length (nPL). An interaction effect of task and condition was found for MT [F ₍₁,₂₈₎ = 9.344, p = 0.005] and nPL [F ₍₁,₂₈₎ = 12.766, p = 0.001], with larger increases across conditions in the full-body task compared to the upper extremity task. For the upper extremity task, sex predicted RT, where males had quicker RTs than females (unstandardized B = -78.968, p = 0.038). For the full-body task, MT and nPL were predicted by age and sport experience, respectively; where younger age resulted in faster MTs (unstandardized B = 235.546, p = 0.009), and more sport experience led to less variable nPLs (unstandardized B = -3.802, p = 0.005). Lastly, the full-body task found that sport experience was moderated by sex (unstandardized B = 203.650, p = 0.014), where only females saw decreases in MT with increasing sport experience. The full-body CMI task provides a more comprehensive analysis of sensory, motor, and cognitive contributions to coordination tasks. An isolated upper extremity task may be limited in its ability to extract meaningful information that could contribute to difficulties in performing activities of daily living. Future work could utilize this task in clinical populations with the potential to uncover differences that might not be apparent in standard assessment protocols.

Background and objective: High-intensity noise exposure is a well-established risk factor for auditory dysfunction; however, its effects on the vestibular system remain poorly understood. This is an important question due to the anatomical proximity and shared vulnerability of cochlear and vestibular structures. This study aims to determine the longitudinal effects of prolonged low-frequency noise (LFN) exposure at two different sound intensities (110- and 120-dB SPL) on vestibular function in Sprague-Dawley rats using behavioral and electrophysiological assessments.

Materials and methods: Adult male Sprague-Dawley rats (3-months-old) were exposed to LFN (0.5-4.0 kHz) at either 110- or 120-dB SPL for 6 h and monitored over 21 days. Cervical vestibular-evoked myogenic potentials (cVEMPs), auditory brainstem responses (ABRs), and balance-related behaviors were evaluated at baseline and different times after exposure.

Results: Exposure to 120 dB SPL resulted in significant and permanent vestibular dysfunction, evidenced by elevated cVEMP thresholds and reduced cVEMP P1-N1 suprathreshold amplitudes. These parameters partially recovered over 21 days but did not return to baseline levels. As expected for this noise exposure, large ABR thresholds increases and peak I amplitudes reductions were observed. In addition, behavioral tests showed impaired motor coordination over 21 days. In contrast, 110 dB SPL exposure only caused temporary cVEMP P1-N1 amplitude decreases and much smaller ABR threshold increases.

Conclusion: These results show that, similar to the auditory system, LFN exposure has an intensity-dependent effect on vestibular function and highlight the importance of including vestibular evaluations for a comprehensive assessment of noise-induced health conditions.

Inhibitory control is a core cognitive function that is primarily associated with activation in the prefrontal cortex (PFC) and is the cognitive function that inhibits impulses, thoughts, and suppresses irrelevant information to an identified goal or task. Prior research suggests that bilingualism may affect brain activity related to inhibitory control, yet few studies have compared functional activity between monolingual and bilingual children. The current study used functional near-infrared spectroscopy (fNIRS) to examine region of interest comparisons and task-state functional connectivity across the PFC during an interference suppression Simon task with 13 bilingual (East Asian or Ibero-romance paired with English) and 13 age-matched English monolingual preschoolers. Results showed no significant differences in behavioral measures of interference suppression. However, bilingual preschoolers showed lower oxygenated hemoglobin activation and more localized patterns of connectivity within the PFC, suggesting more efficient processing during suppression compared to their monolingual peers. This may reflect the bilingual experience of regularly suppressing their second language when not in use, thus facilitating neural efficiency. These findings contribute to the growing body of literature on bilingual cognitive development suggesting that functional connectivity during executive function may differ in bilingual children, even at a young age, despite no observable behavioral differences. This highlights the importance of integrating neuroimaging with behavioral data to gain a more comprehensive understanding of bilingual cognitive development.

Acquired spatial representations are not static. Each re-exposure to the spatial environment stimulates retrieval of the stored experience followed by information re-encoding, including updating if the environment has changed. It remains unclear if the same neurons are involved in these three events. Here, we used a multiplexed fluorescence in situ hybridization (FISH) approach that detected "time-locked" nuclear immediate early gene (IEG) expression to identify hippocampal neuronal ensembles that were engaged in the acquisition of a spatial representation, as well as its subsequent stabilization and/or updating. Responses were assessed in distal CA1 (dCA1) and proximal CA1 (pCA1) of the dorsal hippocampus of male rats. Homer1a was used to detect neuronal recruitment triggered by novel learning of a holeboard environment (HB). cFos and Arc expression were used to detect ensemble stability and/or expansion, or ensemble remodeling, respectively, that was triggered by animal exposure to the now familiar HB that included novel objects (HBO) 25 min after the initial HB exposure. Novel HB exposure resulted in nuclear Homer1a expression in both dCA1 and pCA1. Subsequent HBO triggered significant cFos and Arc expression only in dCA1. IEG co-labeling (Homer1a/cFos, Homer1a/Arc and Homer1a/cFos/Arc) was also only evident in dCA1, reflecting both re-iteration and remodeling of dCA1, but not pCA1 ensembles. In sum, we show that the contiguous acquisition and updating of spatial representations recruits distinct populations of CA1-neurons reflecting ensemble selection and stabilization, as well as ensemble remodeling. Moreover, whereas dCA1 and pCA1 are involved in the acquisition of the original spatial representation, only dCA1 is engaged in representation updating related to changes in spatial content information.

Introduction: Several disciplines have explored the relationship between autism spectrum disorder (ASD) and music, though most insights derive from cognitive sciences. This systematic review and meta-analysis synthesize evidence on the therapeutic effects of music-based interventions (MI) on communication, behavior, social engagement, attention, and quality of life in autistic individuals. It also examines how participants perceive and process music, situating therapeutic findings within this perceptual framework.

Methods: From a total of 346 publications screened in PubMed, Cochrane Library, and WILEY Online Library databases, 120 were included, of which 15 met the criteria for quantitative evaluation and meta-analysis, to assess the state- of-the-art of research on music and autism in the fields of neuropsychology and cognitive sciences. The reviewed studies span a range of methodologies, including randomized controlled trials and qualitative research, and incorporate diverse MI strategies, such as active music-making, structured listening, and improvisational techniques.

Results: Despite methodological heterogeneity, the findings suggest a moderate overall beneficial effect of MI, particularly in enhancing social interaction (z = 1.89, p-value = 0.06), verbal communication-especially vowel articulation (z = 2.93, p-value = 0.01), behavior (z = 1.92, p-value = 0.06; after outlier removal), and quality of life (z = 1.67, p-value = 0.09).

Discussion: This study highlights music's potential as a non-invasive, engaging therapeutic medium that elicits emotional, cognitive, and social responses in individuals on the spectrum. Given evidence of context-sensitive and domain-specific strengths in musical abilities, music emerges as a promising therapeutic approach. Future studies should investigate individual variability in response to MI, aim to standardize outcome measures, and assess long-term effects. Such efforts will support more personalized, neurodiversity-affirming therapeutic models in autism care.

Context-sensitive behaviors are crucial for the adaptive success of many organisms. Investigating neural processes that facilitate context-sensitive behavior requires knowledge of the molecular signaling and anatomical brain connectivity within and between relevant brain networks. Here, we outline the roles of oxytocin and dopamine signaling systems in context-sensitive singing in songbirds. Additionally, using the recently compiled songbird connectome, we review anatomical connectivity between vocal-motor and social brain networks that may facilitate context-sensitive singing. We present a model for context-sensitive adaptability of singing behavior in songbirds. We propose that the medial preoptic nucleus of the hypothalamus may serve as the output nucleus of the social behavior network, influencing oxytocin-mediated dopamine delivery to the vocal control network, in a context-sensitive manner. As many components of this model are conserved across species, we speculate that this proposed model can be generalized to facilitate context-sensitive motor behaviors across vertebrate species. Overall, we emphasize the importance of investigating each component of our proposed model, within a single species. This perspective aims to uncover how integrated neural mechanisms give rise to behavior.

Objective: This study utilized resting-state functional magnetic resonance imaging (rs-fMRI) to investigate changes in the spontaneous activity of the default mode network (DMN) in patients with primary dysmenorrhea (PD) through amplitude of low-frequency fluctuation (ALFF) and functional connectivity (FC) analyses, aiming to explore their relationship with emotional regulation.

Methods: A total of 14 PD patients (the PD group) and 24 healthy controls matched by age, education, and gender (the HC group) underwent rs-fMRI scans. First, changes in ALFF were calculated for the PD group in comparison to the HC group, and brain regions with ALFF differences were used as regions of interest (ROIs). Subsequently, rs-fMRI was employed to detect differences in FC intensity between the two groups. Nine PD patients completed neuropsychological scale assessments, and correlations between their ALFF and FC values were analyzed.

Results: Compared to the HC group, the PD group exhibited decreased ALFF in the middle temporal gyrus, temporal pole, and superior temporal gyrus on the left side. Using the temporal pole as the ROI, the PD group also showed decreased connectivity between the temporal pole and the superior frontal gyrus (SFG), dorsolateral supplementary motor area (SMA), and precentral gyrus on the right side. A trend suggesting a positive correlation between ALFF values and anxiety was observed.

Conclusion: PD patients exhibited multidimensional functional changes in the brain. ALFF and FC may serve as sensitive biomarkers for distinguishing PD patients from healthy individuals.

Background: Anti-metabotropic glutamate receptor 1 (mGluR1) encephalitis is a rare autoimmune disease affecting cerebellar Purkinje cells. Only thirty-nine cases have been reported globally, with inconsistent documentation of treatments and outcomes. A systematic review is needed to identify prognostic factors and expand clinical understanding and treatment options.

Methods: Observational follow-up data of anti-mGluR1 encephalitis cases were collected. All anti-mGluR1 encephalitis cases published in the PubMed and Google Scholar databases in English before November 1, 2024 were included. Clinical information and possible predictive factors from both current and previously reported cases were statistically analyzed.

Results: We present a case of anti-mGluR1 encephalitis successfully treated with ofatumumab. During the patient's initial episode, she partially recovered after first-line treatment. She experienced a relapse 6 months later and was treated with ofatumumab, resulting in complete recovery. Forty cases of anti-mGluR1 encephalitis, including our case, were summarized. The prevalence was similar between men and women, with 50% of patients aged 40-59 years. The most common clinical manifestations were ataxia and dysarthria. Cerebrospinal fluid analysis showed normal white blood cell count and IgG index in 37.1% of patients. Almost half of the patients (48.6%) exhibited cerebellar atrophy on cerebral MRI scans at initial presentation or during follow-up. Only 25% of patients recovered completely. According to the modified Rankin Scale (mRS) scores at the last follow-up, patients with poor outcome (n = 13, 32.5%) had a lower proportion of first-line immunotherapy (62%, P = 0.017) and a longer follow-up time (median 36 months, P = 0.038).

Conclusion: The peak incidence of anti-mGluR1 encephalitis occurs between ages of 40-59 years. More than one-third of patients have normal cell counts and IgG index in the cerebrospinal fluid. Therefore, patients suspected of having this encephalitis should be tested for the presence of anti-mGluR1 antibodies in serum and cerebrospinal fluid. Notably, the first-line immunotherapy may be a critical factor influencing clinical outcomes.