Altered resting-state functional network connectivity in profound sensorineural hearing loss infants within an early sensitive period: A group ICA study.
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ABSTRACT:
SUBMITTER: Wang S
PROVIDER: S-EPMC8356983 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Background:Sensory deprivation, such as hearing loss, has been demonstrated to change the intrinsic functional connectivity (FC) of the brain, as measured with resting-state functional magnetic resonance imaging (rs-fMRI). Patients with sloping sensorineural hearing loss (SNHL) are a unique population among the hearing impaired, as they have all been exposed to some auditory input throughout their lifespan and all use spoken language. Materials and Methods:Twenty patients with SNHL and 21 control subjects participated in a rs-fMRI study. Whole-brain seed-driven FC maps were obtained, with audiological scores of patients, including hearing loss severity and speech performance, used as covariates. Results:Most profound differences in FC were found between patients with prelingual (before language development, PRE) vs. postlingual onset (after language development, POST) of SNHL. An early onset was related to enhancement in long-range network connections, including the default-mode network, the dorsal-attention network and the fronto-parietal network, as well as in local sensory networks, the visual and the sensorimotor. A number of multisensory brain regions in frontal and parietal cortices, as well as the cerebellum, were also more internally connected. We interpret these effects as top-down mechanisms serving optimization of multisensory experience in SNHL with a prelingual onset. At the same time, POST patients showed enhanced FC between the salience network and multisensory parietal areas, as well as with the hippocampus, when they were compared to those with PRE hearing loss. Signal in several cortex regions subserving visual processing was also more intra-correlated in POST vs. PRE patients. This outcome might point to more attention resources directed to multisensory as well as memory experience. Finally, audiological scores correlated with FC in several sensory and high-order brain regions in all patients. Conclusion:The results show that a sloping hearing loss is related to altered resting-state brain organization. Effects were shown in attention and cognitive control networks, as well as visual and sensorimotor regions. Specifically, we found that even in a partial hearing deficit (affecting only some of the hearing frequency ranges), the age at the onset affects the brain function differently, pointing to the role of sensitive periods in brain development.
| S-EPMC6713935 | biostudies-literature
Project description:BackgroundSudden sensorineural hearing loss (SSNHL) is an otologic emergency and could lead to social difficulties and mental disorders in some patients. Although many studies have analyzed altered brain function in populations with hearing loss, little information is available about patients with idiopathic SSNHL. This study is aimed at investigating brain functional changes in SSNHL via functional magnetic resonance imaging (fMRI).MethodsThirty-six patients with SSNHL and thirty well-matched normal hearing individuals underwent resting-state fMRI. Amplitude of low-frequency fluctuation (ALFF), fractional ALFF (fALFF), and functional connectivity (FC) values were calculated.ResultsIn the SSNHL patients, ALFF and fALFF were significantly increased in the bilateral putamen but decreased in the right calcarine cortex, right middle temporal gyrus (MTG), and right precentral gyrus. Widespread increases in FC were observed between brain regions, mainly including the bilateral auditory cortex, bilateral visual cortex, left striatum, left angular gyrus (AG), bilateral precuneus, and bilateral limbic lobes in patients with SSNHL. No decreased FC was observed.ConclusionSSNHL causes functional alterations in brain regions, mainly in the striatum, auditory cortex, visual cortex, MTG, AG, precuneus, and limbic lobes within the acute period of hearing loss.
| S-EPMC7527900 | biostudies-literature
Project description:Congenital hearing impairment is a sensory disorder that is genetically highly heterogeneous. By performing exome sequencing in two families with congenital nonsyndromic profound sensorineural hearing loss (SNHL), we identified autosomal dominantly inherited missense variants [p.(Asn283Ser); p.(Thr116Ile)] in GREB1L, a neural crest regulatory molecule. The p.(Thr116Ile) variant was also associated with bilateral cochlear aplasia and cochlear nerve aplasia upon temporal bone imaging, an ultra-rare phenotype previously seen in patients with de novo GREB1L variants. An important role of GREB1L in normal ear development has also been demonstrated by greb1l-/- zebrafish, which show an abnormal sensory epithelia innervation. Last, we performed a review of all disease-associated variation described in GREB1L, as it has also been implicated in renal, bladder and genital malformations. We show that the spectrum of features associated with GREB1L is broad, variable and with a high level of reduced penetrance, which is typically characteristic of neurocristopathies. So far, seven GREB1L variants (14%) have been associated with ear-related abnormalities. In conclusion, these results show that autosomal dominantly inherited variants in GREB1L cause profound SNHL. Furthermore, we provide an overview of the phenotypic spectrum associated with GREB1L variants and strengthen the evidence of the involvement of GREB1L in human hearing.
| S-EPMC7349314 | biostudies-literature
Project description:Profound sensorineural hearing loss (SNHL) is an auditory disability associated with auditory and cognitive dysfunction. Due to distinct pathogenesis, some associated structural and functional changes within the brain have been investigated in previous studies, but whole-brain structural alterations are incompletely understood. We extended the exploration of neuroanatomic differences in whole-brain structure in children with profound SNHL who are primarily users of Chinese sign language (CSL). We employed surface-based morphometry (SBM) and subcortical analyses. T1-weighted magnetic resonance images of 26 children with profound SNHL and 27 age- and sex-matched children with normal hearing were analyzed. Compared with the normal control (NC) group, children with profound SNHL showed diverse structural changes in surface-based and subcortical analyses, including decreased cortical thickness in the left postcentral gyrus, superior parietal lobule, paracentral lobule, precuneus, the right transverse temporal gyri, and the middle temporal gyrus; a noticeable increase in the Local Gyrification Index (LGI) in the left precuneus and superior parietal lobule; and diverse changes in gray-matter volume (GMV) in different brain regions. Surface-based vertex analyses revealed regional contractions in the right thalamus, putamen, pallidum, and the brainstem of children with profound SNHL when compared with those in the NC group. Volumetric analyses showed decreased volumes of the right thalamus and pallidum in children with profound SNHL. Our data suggest that children with profound SNHL are associated with diffuse cerebral dysfunction to cortical and subcortical nuclei, and revealed neuroplastic reorganization in the precuneus, superior parietal lobule, and temporal gyrus. Our study provides robust evidence for changes in connectivity and structure in the brain associated with hearing loss.
| S-EPMC7756106 | biostudies-literature
Project description:ObjectiveTo evaluate the impact of gentamicin exposure on sensorineural hearing loss (SNHL) in very low birth weight (VLBW) infants.MethodsExposure to gentamicin was determined in infants born between 1993 and 2010 at a gestational age < 32 weeks and/or with a birthweight < 1500 g, who presented with SNHL during the first 5 years of life. For each case, we selected two controls matched for gender, gestational age, birthweight, and year of birth.ResultsWe identified 25 infants affected by SNHL, leading to an incidence of SNHL of 1.58% in our population of VLBW infants. The proportion of infants treated with gentamicin was 76% in the study group and 70% in controls (p = 0.78). The total cumulated dose of gentamicin administered did not differ between the study group (median 10.2 mg/kg, Q1-Q3 1.6-13.2) and the control group (median 7.9 mg/kg, Q1-Q3 0-12.8, p = 0.47). The median duration of gentamicin treatment was 3 days both in the study group and the control group (p = 0.58). Maximum predicted trough serum levels of gentamicin, cumulative area under the curve and gentamicin clearance were not different between cases and controls.ConclusionThe impact of gentamicin on SNHL can be minimized with treatments of short duration, monitoring of blood levels and dose adjustment.
| S-EPMC4938424 | biostudies-literature
Project description:This study aimed to explore the role of the default mode network (DMN) and salience network (SN) in the assessment of pathophysiology of generalized anxiety disorder (GAD) through analyzing the characteristics of internal function connectivity (FC) and to investigate the relationship of FC with Hamilton anxiety (HAMA) scale scores in untreated GAD patients during a resting-state functional magnetic resonance imaging (rs-fMRI). Rs-fMRI and HAMA scale scoring were performed in 51 GAD patients (31 GAD patients with liver stagnation transforming into fire type and 20 GAD patients with stagnation of liver-Qi syndrome type) and 20 healthy controls. Spearman correlation analysis was performed to assess the association between HAMA scores and abnormal brain FC. Compared with healthy controls, the FC of the right medial prefrontal gyrus of the DMN and the right superior temporal gyrus of the SN increased significantly in the GAD patients (P < 0.001). However, the FC of the left middle frontal gyrus and bilateral medial superior frontal gyrus of the SN reduced significantly in the GAD patients with stagnation of liver-Qi syndrome type as compared with healthy controls and GAD patients with liver stagnation transforming into fire type (P < 0.001). There was no relationship between abnormal brain FC and HAMA scores. In conclusion, the FC of the DMN and SN may be abnormal in the GAD patients at the resting state. The aberrant FC of some crucial brain regions of these networks may contribute to the pathophysiology of GAD.
| S-EPMC7443230 | biostudies-literature
Project description:Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Using resting-state fMRI (rs-fMRI) we investigated the functional integrity of resting-state networks (RSN) in HD. 17 HD and 19 matched control participants were examined at a 3 Tesla MR scanner. After controlling for structural degeneration by means of voxel-based morphometry, task-free rs-fMRI data were analyzed using Independent Component Analysis (ICA) and a dual-regression approach in the context of genetic and clinical parameters. Further, we evaluated HD-related differences in interregional connectivity between networks. RSN analysis showed a significant increase in intrinsic functional connectivity in the HD sample compared with controls, including the thalamus, striatum, prefrontal, premotor, and parietal maps. A subset of the Default Mode Network (DMN) was also affected. In the HD cohort, motor impairment correlated with higher network connectivity in mainly motor and parietal cortices. Deteriorating total functional capacity was additionally associated with higher connectivity in the striatum, thalamus, insular and frontal areas. This pattern of increased activity in intrinsic functional networks might suggest a reduced ability of intra-network differentiation with clinical disease progression in HD. Finally, results showed reduced long-range connectivity between parietal ICA components in HD compared to controls, indicating impaired functional coupling between interregional networks in HD. Our data demonstrates that functional connectivity is profoundly altered in HD, both within and between RSN. Rs-fMRI analysis may provide additional valuable insights into neuronal dysfunctions beyond HD-related structural degeneration and disruptions of functional circuits in HD.
| S-EPMC6869508 | biostudies-literature
Project description:OBJECTIVES:We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL). METHODS:Two postlingually deafened subjects (SB237-461, M/46 and SB354-692, F/34) with more than severe SNHL and also with suspicion of Usher syndrome type II (USH2) were enrolled. A comprehensive audiological and ophthalmological assessments were evaluated. We conducted the whole exome sequencing and subsequent pathogenicity prediction analysis. RESULTS:We identified the following variants of USH2A from the two probands manifesting more than severe SNHL and retinitis pigmentosa (RP): compound heterozygosity for a nonsense (c.8176C>T: p.R2723X) and a missense variant (c.1823G>A: p.C608Y) in SB237, and compound heterozygosity for two frameshift variants (c.14835delT: p.S4945fs & c.13112_13115delAAAT: p.G4371fs) in SB354. Based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, two novel variants, c.1823G>A: p.C608Y and c.14835delT: p.Ser4945fs, can be classified as "uncertain significance" and "pathogenic," respectively. The audiogram exhibited more than severe SNHL and a down-sloping configuration, necessitating cochlear implantation. The ophthalmic examinations revealed typical features of RP. Interestingly, one proband (SB 354-692) carrying two truncating compound heterozygous variants exhibited more severe hearing loss than the other proband (SB 237-461), carrying one truncation with one missense variant. CONCLUSION:Our results provide insight on the expansion of audiological spectrum encompassing more than severe SNHL in Korean subjects harboring USH2A variants, suggesting that USH2A should also be included in the candidate gene of cochlear implantation. A specific combination of USH2A variants causing truncating proteins in both alleles could demonstrate more severe audiological phenotype than that of USH2A variants carrying one truncating mutation and one missense mutation, suggesting a possible genotype-phenotype correlation. The understanding of audiological complexity associated with USH2A will be helpful for genetic counseling and treatment starategy.
| S-EPMC7248602 | biostudies-literature
Project description:In the postpartum period, the maternal brain experiences both structural and functional plasticity. Although we have a growing understanding of the responses of the human maternal brain to infant stimuli, little is known about the intrinsic connectivity among those regions during the postpartum months. Resting-state functional connectivity (rsFC) provides a measure of the functional architecture of the brain based upon intrinsic functional connectivity (ie, the temporal correlation in blood oxygenation level dependent signal when the brain is not engaged in a specific task). In the present study, we used resting-state functional magnetic resonance imaging to examine how later postpartum months are associated with rsFC and maternal behaviours. We recruited a sample of 47 socioeconomically diverse first-time mothers with singleton pregnancies. Because the amygdala has been shown to play a critical role in maternal behaviours in the postpartum period, this was chosen as the seed for a seed-based correlation analysis. For the left amygdala, later postpartum months were associated with greater connectivity with the anterior cingulate gyrus, left nucleus accumbens, right caudate and left cerebellum (P < 0.05, false discovery rate corrected). Furthermore, in an exploratory analysis, we observed indications that rsFC between the left amygdala and left nucleus accumbens was positively associated with maternal structuring during a mother child-interaction. In addition, later postpartum months were associated with greater connectivity between the right amygdala and the bilateral caudate and right putamen. Overall, we provide evidence of relationships between postpartum months and rsFC in the regions involved in salience detection and regions involved in maternal motivation. Greater connectivity between the amygdala and nucleus accumbens may play a role in positive maternal behaviours.
| S-EPMC6874214 | biostudies-literature
Project description:The brain of congenital blind (CB) has experienced a series of structural and functional alterations, either undesirable outcomes such as atrophy of the visual pathway due to sight loss from birth, or compensatory plasticity to interact efficiently with the environment. However, little is known, so far, about alterations in the functional architecture of resting-state networks (RSNs) in CB. This study aimed to investigate intra- and internetwork connectivity differences between CB and sighted controls (SC), using independent component analysis (ICA) on resting state functional MRI data. Compared with SC, CB showed significantly increased network connectivity within the salience network (SN) and the occipital cortex. Moreover, CB exhibited enhanced internetwork connectivity between the SN and the frontoparietal network (FPN) and between the FPN and the occipital cortex; however, they showed decreased internetwork connectivity between the occipital cortex and the sensorimotor network. These findings suggest that CB experience large scale reorganization at the level of the functional network. More importantly, the enhanced intra- and internetwork connectivity of the SN, FPN, and occipital cortex in CB may improve their abilities to identify salient stimuli, to initiate the executive function, and to top-down control of attention, which are critical for the CB to guide appropriate behavior and to better adaption to the environment.
| S-EPMC6869085 | biostudies-literature