Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Ontology highlight
ABSTRACT: Objective
To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function.Methods
All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal. Language development was assigned to 1 of 3 categories by a speech pathologist. Maximal motor function and presence of epilepsy were determined by history or examination.Results
Twenty-five MRIs and 9 reports were reviewed. The most common MRI abnormalities were cobblestone cortex or dysgyria with an anterior-posterior gradient and cerebellar hypoplasia. Seven individuals had MRIs in group 1, 8 in group 2, and 19 in group 3. Language was impaired in 100% of those in MRI groups 1 and 2, and degree of language impairment correlated with severity of imaging. Eighty-five percent of the whole group achieved independent walking, but only 33% did in group 1. Epilepsy was present in 8% of the cohort and rose to 37% of those with an abnormal MRI.Conclusions
Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem bowing are hallmarks of DG and should prompt consideration of these diagnoses. Brain imaging in individuals with DG helps to predict outcomes, especially language development, aiding clinicians in prognostic counseling.
SUBMITTER: Brun BN
PROVIDER: S-EPMC5317381 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:BACKGROUND:Chronic kidney disease (CKD) studies have reported variable prevalence of brain pathologies, in part due to low inclusion of participants with moderate to severe CKD. OBJECTIVE:To measure the association between kidney function biomarkers and brain MRI findings in CKD. METHODS:In the BRINK (BRain IN Kidney Disease) study, MRI was used to measure gray matter volumes, cerebrovascular pathologies (white matter hyperintensity (WMH), infarctions, microhemorrhages), and microstructural changes using diffusion tensor imaging (DTI). We performed regression analyses with estimated glomerular filtration rate (eGFR) and urine albumin to creatinine ratio (UACR) as primary predictors, and joint models that included both predictors, adjusted for vascular risk factors. RESULTS:We obtained 240 baseline MRI scans (150 CKD with eGFR <45 in ml/min/1.73 m2; 16 mild CKD: eGFR 45-59; 74 controls: eGFR?60). Lower eGFR was associated with greater WMH burden, increased odds of cortical infarctions, and worsening diffusion changes throughout the brain. In eGFR models adjusted for UACR, only cortical infarction associations persisted. However, after adjusting for eGFR, higher UACR provided additional information related to temporal lobe atrophy, increased WMH, and whole brain microstructural changes as measured by increased DTI mean diffusivity. CONCLUSIONS:Biomarkers of kidney disease (eGFR and UACR) were associated with MRI brain changes, even after accounting for vascular risk factors. UACR adds unique additional information to eGFR regarding brain structural and diffusion biomarkers. There was a greater impact of kidney function biomarkers on cerebrovascular pathologies and microstructural brain changes, suggesting that cerebrovascular etiology may be the primary driver of cognitive impairment in CKD.
| S-EPMC5621389 | biostudies-literature
Project description:Rationale and objectivesWe aimed to assess early COVID-19 pandemic-associated changes in brain MRI examination frequency and acuity of imaging findings acuity.MethodsUsing a natural language processing model, we retrospectively categorized reported findings of 12,346 brain MRI examinations performed during 6-month pre-pandemic and early pandemic time periods across a large metropolitan health system into 3 acuity levels: (1) normal or near normal; (2) incidental or chronic findings not requiring a management change; and (3) new or progressive findings requiring a management change. Brain MRI frequency and imaging finding acuity level were compared over time.ResultsBetween March and August of 2019 (pre-pandemic) and 2020 (early pandemic), our health system brain MRI examination volumes decreased 17.0% (6745 vs 5601). Comparing calendar-matched 6-month periods, the proportion of higher acuity findings increased significantly (P< 0.001) from pre-pandemic (22.5%, 43.6% and 34.0% in acuity level 1, 2, and 3, respectively) to early pandemic periods (19.1%, 40.9%, and 40.1%). During the second 3 months of the early pandemic period, as MRI volumes recovered to near baseline, the proportion of higher acuity findings remained high (42.6% vs 34.1%) compared with a similar pre-pandemic period. In a multivariable analysis, Black (B coefficient, 0.16) and underinsured population (B coefficient, 0.33) presented with higher acuity findings (P< 0.05).ConclusionsAs the volume of brain MRI examinations decreased during the early COVID-19 pandemic, the relative proportion of examinations with higher acuity findings increased significantly. Pandemic-related changes in patient outcomes related to reduced imaging access merits further attention.
| S-EPMC8636309 | biostudies-literature
Project description:Background and purposeRoutine MR imaging findings are frequently normal following mild traumatic brain injury and have a limited role in diagnosis and management. Advanced MR imaging can assist in detecting pathology and prognostication but is not readily available outside research settings. However, 3D isotropic sequences with ?1-mm3 voxel size are available on community MR imaging scanners. Using such sequences, we compared radiologists' findings and quantified regional brain volumes between a mild traumatic brain injury cohort and non-brain-injured controls to describe structural imaging findings associated with mild traumatic brain injury.Materials and methodsSeventy-one military personnel with persistent symptoms and 75 controls underwent 3T MR imaging. Three neuroradiologists interpreted the scans using common data elements. FreeSurfer was used to quantify regional gray and white matter volumes.ResultsWM hyperintensities were seen in 81% of the brain-injured group versus 60% of healthy controls. The odds of ?1 WM hyperintensity in the brain-injured group was about 3.5 times the odds for healthy controls (95% CI, 1.58-7.72; P?=?.002) after adjustment for age. A frontal lobe-only distribution of WM hyperintensities was more commonly seen in the mild traumatic brain injury cohort. Furthermore, 7 gray matter, 1 white matter, and 2 subcortical gray matter regions demonstrated decreased volumes in the brain-injured group after multiple-comparison correction. The mild traumatic brain injury cohort showed regional parenchymal volume loss.ConclusionsWhite matter findings are nonspecific and therefore a clinical challenge. Our results suggest that prior trauma should be considered in the differential diagnosis of multifocal white matter abnormalities with a clinical history of mild traumatic brain injury, particularly when a frontal predilection is observed.
| S-EPMC6975320 | biostudies-literature
Project description:BACKGROUND:Use of functional MRI (fMRI) in pre-surgical planning is a non-invasive method for pre-operative functional mapping for patients with brain tumors, especially tumors located near eloquent cortex. Currently, this practice predominantly involves task-based fMRI (T-fMRI). Resting state fMRI (RS-fMRI) offers an alternative with several methodological advantages. Here, we compare group-level analyses of RS-fMRI vs. T-fMRI as methods for language localization. PURPOSE:To contrast RS-fMRI vs. T-fMRI as techniques for localization of language function. METHODS:We analyzed data obtained in 35 patients who had both T-fMRI and RS-fMRI scans during the course of pre-surgical evaluation. The RS-fMRI data were analyzed using a previously trained resting-state network classifier. The T-fMRI data were analyzed using conventional techniques. Group-level results obtained by both methods were evaluated in terms of two outcome measures: (1) inter-subject variability of response magnitude and (2) sensitivity/specificity analysis of response topography, taking as ground truth previously reported maps of the language system based on intraoperative cortical mapping as well as meta-analytic maps of language task fMRI responses. RESULTS:Both fMRI methods localized major components of the language system (areas of Broca and Wernicke) although not with equal inter-subject consistency. Word-stem completion T-fMRI strongly activated Broca's area but also several task-general areas not specific to language. RS-fMRI provided a more specific representation of the language system. CONCLUSION:We demonstrate several advantages of classifier-based mapping of language representation in the brain. Language T-fMRI activated task-general (i.e., not language-specific) functional systems in addition to areas of Broca and Wernicke. In contrast, classifier-based analysis of RS-fMRI data generated maps confined to language-specific regions of the brain.
| S-EPMC7394427 | biostudies-literature
Project description:Background and purposeNeurologic complications in infective endocarditis are frequent and affect patient prognosis negatively. Additionally, detection of asymptomatic lesions by MR imaging could help early management of this condition. The objective of our study was to describe MR imaging characteristics of cerebral lesions in a neurologically asymptomatic population with infective endocarditis.Materials and methodsOne hundred nine patients at the acute phase of a definite or possible infective endocarditis according to the Duke modified criteria and without neurologic manifestations according to the NIHSS were prospectively included. Each patient underwent cerebral MR imaging and MRA within 7 days of admission.ResultsMR imaging showed abnormalities in 78 patients (71.5%). Acute ischemic lesions (40 patients, 37%) and cerebral microbleeds (62 patients, 57%) were the most frequent lesions. Eight patients had an acute SAH, 3 patients had brain microabscesses, 3 had a small cortical hemorrhage, and 3 had a mycotic aneurysm. Acute ischemic lesions mostly appeared as multiple small infarcts disseminated in watershed territories (25/40, 62.5%) and as lesions of different ages (21/40, 52.5%). Cerebral microbleeds were preferentially distributed in cortical areas (362/539 cerebral microbleeds, 67%). No significant correlation was found among lesions, in particular between acute ischemia and cerebral microbleeds.ConclusionsOccult cerebral lesions, in particular cerebral microbleeds and acute ischemic lesions, are frequent in infective endocarditis. The MR imaging pattern of acute small infarcts of different ages predominating in watershed territories and cortical cerebral microbleeds may represent a surrogate imaging marker of infective endocarditis.
| S-EPMC8051470 | biostudies-literature
Project description:Motor-activity-related mental tasks are widely adopted for brain-computer interfaces (BCIs) as they are a natural extension of movement intention, requiring no training to evoke brain activity. The ideal BCI aims to eliminate neuromuscular movement, making motor imagery tasks, or imagined actions with no muscle movement, good candidates. This study explores cortical activation differences between motor imagery and motor execution for both upper and lower limbs using functional near-infrared spectroscopy (fNIRS). Four simple finger- or toe-tapping tasks (left hand, right hand, left foot, and right foot) were performed with both motor imagery and motor execution and compared to resting state. Significant activation was found during all four motor imagery tasks, indicating that they can be detected via fNIRS. Motor execution produced higher activation levels, a faster response, and a different spatial distribution compared to motor imagery, which should be taken into account when designing an imagery-based BCI. When comparing left versus right, upper limb tasks are the most clearly distinguishable, particularly during motor execution. Left and right lower limb activation patterns were found to be highly similar during both imagery and execution, indicating that higher resolution imaging, advanced signal processing, or improved subject training may be required to reliably distinguish them.
| S-EPMC5435907 | biostudies-literature
Project description:Chronic kidney disease is emerging as a novel risk factor for cerebrovascular disease, but this association remains largely unexplored in older adults. Cystatin C is a more accurate measure than creatinine of kidney function in the elderly. We evaluated cystatin C, cognitive function, and brain imaging in 193 participants from The 90+ Study neuroimaging component. The mean age was 93.9 years; 61% were women. Mean cystatin C was 1.62 mg/L with estimated glomerular filtration rate 39.2 mL/min/1.73 m2. Performance on measures of global cognition, executive function, and visual-spatial ability declined at higher tertiles of cystatin C (lower kidney function). Higher cystatin C was significantly associated with infratentorial microbleeds and lower gray matter volume. Adjusted risk of incident dementia was increased in the middle and high cystatin C tertile groups compared with the low group (hazard ratio in highest tertile 3.81 [95% confidence interval 1.14-12.7]), which appeared to be explained in part by the presence of cerebral microbleeds. Overall, cystatin C was associated with cognitive performance, brain imaging pathology, and decline to dementia in this oldest-old cohort.
| S-EPMC7307913 | biostudies-literature
Project description:Multiple lines of research indicate that fathers often treat boys and girls differently in ways that impact child outcomes. The complex picture that has emerged, however, is obscured by methodological challenges inherent to the study of parental caregiving, and no studies to date have examined the possibility that gender differences in observed real-world paternal behavior are related to differential paternal brain responses to male and female children. Here we compare fathers of daughters and fathers of sons in terms of naturalistically observed everyday caregiving behavior and neural responses to child picture stimuli. Compared with fathers of sons, fathers of daughters were more attentively engaged with their daughters, sang more to their daughters, used more analytical language and language related to sadness and the body with their daughters, and had a stronger neural response to their daughter's happy facial expressions in areas of the brain important for reward and emotion regulation (medial and lateral orbitofrontal cortex [OFC]). In contrast, fathers of sons engaged in more rough and tumble play (RTP), used more achievement language with their sons, and had a stronger neural response to their son's neutral facial expressions in the medial OFC (mOFC). Whereas the mOFC response to happy faces was negatively related to RTP, the mOFC response to neutral faces was positively related to RTP, specifically for fathers of boys. These results indicate that real-world paternal behavior and brain function differ as a function of child gender. (PsycINFO Database Record
| S-EPMC5481199 | biostudies-literature
Project description:Methylmalonic acidemia (MMA) is a severe, heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with a poor prognosis that can cause brain damage. Identifying the magnetic resonance imaging (MRI) findings of MMA might help to make accurate diagnoses earlier in the disease course and exploring the relationship between neuropsychological scores and MRI findings, when therapy is more effective and to improve therapeutic efficacy. Cerebral MRI studies from 37 children with MMA were evaluated by a neuroradiologist. Clinical and imaging data were collected from each patient. All tests were performed during routine investigations and in accordance with the ethical principles of the Declaration of Helsinki. Informed consent was obtained from the guardians of all patients for inclusion in the study. The most common and significant findings were periventricular white matter changes (78.4%), ventricular dilation (29.7%) and cerebral atrophy (40.5%). According to the developmental quotient, the 37 patients were divided into the normal intelligence subgroup (NI, developmental quotient???85) and the low intelligence subgroup (LI, developmental quotient?<?85). The incidence of corpus callosal thinning, cortical atrophy, subcortical white matter changes, and ventricular dilation (grades 0-3) was significantly higher in the LI subgroup than in the NI subgroup (P?<?0.05). The incidence of no-mild and moderate-severe ventricular dilation was significantly higher in the LI subgroup than in the NI subgroup (P?<?0.05). Ventricular dilatation, cerebral atrophy, white matter changes, and corpus callosal thinning are the main MRI abnormalities in MMA patients, and these manifestations are significantly correlated with delayed development in children.
| S-EPMC7403351 | biostudies-literature
Project description:Turner syndrome is a genetic disorder that results from an abnormal or missing X chromosome in females and is typically associated with impairments in visuospatial, but not verbal, information processing. These visuospatial processing impairments may be exacerbated with increased task demands, such as those engaged during working memory (WM). While previous studies have examined spatial WM function in Turner syndrome, none have directly compared the neural correlates of spatial and verbal WM processes across the encoding, maintenance and retrieval phases. We employed both neurocognitive assessments and functional MRI (fMRI) to examine the neural circuitry underlying both verbal and visuospatial WM functions in individuals with Turner syndrome and normal controls. We furthermore examined the vulnerability of task-related fMRI activation to distracters presented during WM maintenance. Fifteen healthy female volunteers and eight individuals with Turner syndrome performed a delayed-response WM task during fMRI scanning. Neurocognitive tests revealed impaired performance across both verbal and spatial domains in Turner syndrome, with greater impairment on tasks with WM demands. Frontoparietal regions in controls showed significantly sustained levels of activation during visuospatial WM. This sustained activation was significantly reduced in the group with Turner syndrome. Domain-specific activation of temporal regions, in contrast, did not differ between the two groups. Sensory distraction during the WM maintenance phase did not differentially alter frontoparietal activation between the two groups. The results reveal impaired frontoparietal circuitry recruitment during visuospatial executive processing in Turner syndrome, suggesting a significant role for the X chromosome in the development of these pathways.
| S-EPMC5403411 | biostudies-literature