Brain anatomy in non-affected parents of autistic probands: a MRI study

2005 ◽  
Vol 35 (10) ◽  
pp. 1411-1420 ◽  
Author(s):  
SASKIA J. M. C. PALMEN ◽  
HILLEKE E. HULSHOFF POL ◽  
CHANTAL KEMNER ◽  
HUGO G. SCHNACK ◽  
MARGRIET M. SITSKOORN ◽  
...  

Background. Autism is a neurodevelopmental disorder with an estimated genetic origin of 90%. Previous studies have reported an increase in brain volume of approximately 5% in autistic subjects, especially in children. If this increase in brain volume is genetically determined, biological parents of autistic probands might be expected to show brain enlargement, or at least intracranial enlargement, as well. Identifying structural brain abnormalities under genetic control is of particular importance as these could represent endophenotypes of autism.Method. Using quantitative anatomic brain magnetic resonance imaging, volumes of intracranial, total brain, frontal, parietal, temporal and occipital lobe, cerebral and cortical gray and white matter, cerebellum, lateral ventricle, and third ventricle were measured in biological, non-affected parents of autistic probands (19 couples) and in healthy, closely matched control subjects (20 couples).Results. No significant differences were found between the parents of the autistic probands and healthy control couples in any of the brain volumes. Adding gender as a factor in a second analysis did not reveal a significant interaction effect of gender by group.Conclusions. The present sample of biological, non-affected parents of autistic probands did not show brain enlargements. As the intracranium is not enlarged, it is unlikely that the brain volumes of the parents of autistic probands have originally been enlarged and have been normalized. Thus, increased brain volume in autism might be caused by the interaction of paternal and maternal genes, possibly with an additional effect of environmental factors, or increased brain volumes might reflect phenotypes of autism.

2018 ◽  
Vol 51 (6) ◽  
pp. 1702450 ◽  
Author(s):  
Sébastien Celle ◽  
Claire Boutet ◽  
Cédric Annweiler ◽  
Jean-Claude Barthélémy ◽  
Frédéric Roche

The link between sleep apnoea and brain structure is unclear; although dysfunction of the hippocampus, middle temporal gyrus and brainstem/cerebellum have been observed previously. However, this link has been little explored in elderly subjects. The aim of this study was to explore the link between sleep apnoea and the brain in an elderly population.226 asymptomatic elderly subjects (age mean±sd 75.3±0.9 years, range 72.3–77.8 years) from the PROOF (Evaluation of Ageing, Autonomic Nervous System Activity and Cardiovascular Events) cohort study were explored using linear voxel-based or cortical thickness with apnoea/hypopnoea index (AHI; mean±sd 15.9±11.5 events·h−1, range 6–63.6 events·h−1) as a covariate of main interest. The brain volumes of 20 control subjects, 18 apnoeic (AHI >29 events·h−1) treated patients and 20 apnoeic untreated patients from this population were compared using voxel-based morphometry, cortical thickness or surface-based analyses.AHI was not associated with any change in local brain volume, cortical thickness or cortex surface. Control subjects, apnoeic treated and untreated patients were not different in terms of local brain volume, cortical thickness or surface.In a specific population of asymptomatic elderly healthy subjects, sleep apnoea does not seem to be associated with a change in local brain volume or in cortical thickness.


2005 ◽  
Vol 35 (10) ◽  
pp. 1399-1409 ◽  
Author(s):  
F. V. RIJSDIJK ◽  
N. E. M. van HAREN ◽  
M. M. PICCHIONI ◽  
C. McDONALD ◽  
T. TOULOPOULOU ◽  
...  

Background. Structural brain volume abnormalities are among the most extensively studied endophenotypes in schizophrenia. Bivariate genetic model fitting (adjusted to account for selection) was used to quantify the genetic relationship between schizophrenia and brain volumes and to estimate the heritability of these volumes.Method. We demonstrated by simulation that the adjusted genetic model produced unbiased estimates for endophenotype heritability and the genetic and environmental correlations. The model was applied to brain volumes (whole brain, hippocampus, third and lateral ventricles) in a sample of 14 monozygotic (MZ) twin pairs concordant for schizophrenia, 10 MZ discordant pairs, 17 MZ control pairs, 22 discordant sibling pairs, three concordant sibling pairs, and 114 healthy control subjects.Results. Whole brain showed a substantial heritability (88%) and lateral ventricles substantial common environmental effects (67%). Whole brain showed a significant genetic correlation with schizophrenia, whereas lateral ventricles showed a significant individual specific correlation with schizophrenia. There were significant familial effects for hippocampus and third ventricle, but the analyses could not resolve whether these were genetic or environmental in origin (around 30% each).Conclusions. Using genetic model fitting on twin and sibling data we have demonstrated differential sources of covariation between schizophrenia and brain volumes, genetic in the case of whole brain volume and individual specific environment in the case of lateral ventricles.


2009 ◽  
Vol 39 (11) ◽  
pp. 1763-1777 ◽  
Author(s):  
S. Navari ◽  
P. Dazzan

BackgroundThe potential effects of antipsychotic drugs on brain structure represent a key factor in understanding neuroanatomical changes in psychosis. This review addresses two issues: (1) do antipsychotic medications induce changes in total or regional human brain volumes and (2) do such effects depend on antipsychotic type?MethodA systematic review of studies reporting structural brain magnetic resonance imaging (MRI) measures: (1) directly in association with antipsychotic use; and (2) in patients receiving lifetime treatment with antipsychotics in comparison with drug-naive patients or healthy controls. We searched Medline and EMBASE databases using the medical subject heading terms: ‘antipsychotics’ AND ‘brain’ AND (MRI NOT functional). The search included studies published up to 31 January 2007. Wherever possible, we reported the effect size of the difference observed.ResultsThirty-three studies met our inclusion criteria. The results suggest that antipsychotics act regionally rather than globally on the brain. These volumetric changes are of a greater magnitude in association with typical than with atypical antipsychotic use. Indeed, there is evidence of a specific effect of antipsychotic type on the basal ganglia, with typicals specifically increasing the volume of these structures. Differential effects of antipsychotic type may also be present on the thalamus and the cortex, but data on these and other brain areas are more equivocal.ConclusionsAntipsychotic treatment potentially contributes to the brain structural changes observed in psychosis. Future research should take into account these potential effects, and use adequate sample sizes, to allow improved interpretation of neuroimaging findings in these disorders.


1997 ◽  
Vol 27 (2) ◽  
pp. 341-344 ◽  
Author(s):  
Jerônimo Lopes Ruas ◽  
Ana Lucia Schild ◽  
Cristina Gevehr Fernandes ◽  
João Luiz Montiel Ferreira ◽  
Gertrud Müller

Equine cerebral hydatid disease is described in a 7-year-old, crossbred, female horse. Clinical signs were characterized by circling gait, pressing of head against fences or objects and motor incoordination. On gross examination of the brain the hemispheres were swollen, mainly the left one. On transversal sections, a 5cm X 7cm fluid-filled cyst was observed within the lateral ventricle of the left hemisphere. The cyst extended from the parietal to the occipital lobe, and compressed the third ventricle. There was also marked mid line deviation. Histologically, the brain lesion adjacent to the cyst, was characterized by a piogranulomatous process and vacuolization of neuropil. A diagnosis of equine hydatidosis caused by Echinococcus granulosus was made on the basis of the morphometric features of protoscolices hooks.


Circulation ◽  
2018 ◽  
Vol 137 (suppl_1) ◽  
Author(s):  
Aozhou Wu ◽  
A. R Sharrett ◽  
Rebecca F Gottesman ◽  
Melinda C Power ◽  
Thomas Mosley ◽  
...  

Background: Brain infarcts, white matter hyperintensities (WMH), and brain atrophy appear to contribute to the development of mild cognitive impairment (MCI) and dementia in selected populations, but few prospective studies are available in general populations. Methods: The study included 732 black and white participants, sampled from the original ARIC cohort, who had 3T brain Magnetic Resonance Imaging (MRI) scans, were free of MCI and dementia during 2011-13 (Visit 5), and were evaluated for cognitive impairment during 2016-17 (Visit 6, about 90% complete). We assessed the associations of brain infarcts, WMH, and brain volumes measured on MRI from 2011-2013 with incident MCI and dementia (combined), diagnosed using a computer algorithm based on specified criteria and comprehensive assessment at Visit 6. We used logistic regression, incorporating sampling weights, to evaluate the risk for incident MCI/dementia with adjustment for demographic covariates, major dementia risk factors, and history of cardiovascular diseases. Results: Participants had a median age of 75 (IQR: 71, 79) at Visit 5 (baseline); 62% (453) were female and 33% (242) were African American. There were 156 newly identified cases of MCI or dementia during a median follow-up time of 4.9 (IQR: 3.4, 5.2) years. The presence of any brain infarct was associated with a nonsignificantly higher risk of MCI/dementia (OR: 1.50; 95%CI: 0.87 to 2.58), but the only significant individual association was with cortical infarcts (OR: 1.99; 95%CI: 1.03 to 3.85). WMH volume above the median value was nonsignificantly associated with conversion to MCI/dementia. Smaller Alzheimer’s disease (AD) signature region was an independent predictor for greater risk of MCI/dementia (OR: 1.49; 95%CI: 1.00 to 2.22). A similar but nonsignificant association was observed for total brain volume. Conclusions: Brain infarcts (cortical infarcts) and lower brain volume (AD signature region), measured in community-based older residents, are risk factors for MCI and dementia incidence.


Author(s):  
Praveen K Sahu ◽  
Angelika Hoffmann ◽  
Megharay Majhi ◽  
Rajyabardhan Pattnaik ◽  
Catriona Patterson ◽  
...  

Abstract Background Cerebral malaria is a common presentation of severe Plasmodium falciparum infection and remains an important cause of death in the tropics. Key aspects of its pathogenesis are still incompletely understood, but severe brain swelling identified by magnetic resonance imaging (MRI) was associated with a fatal outcome in African children. In contrast, neuroimaging investigations failed to identify cerebral features associated with fatality in Asian adults. Methods Quantitative MRI with brain volume assessment and apparent diffusion coefficient (ADC) histogram analyses were performed for the first time in 65 patients with cerebral malaria to compare disease signatures between children and adults from the same cohort, as well as between fatal and nonfatal cases. Results We found an age-dependent decrease in brain swelling during acute cerebral malaria, and brain volumes did not differ between fatal and nonfatal cases across both age groups. In nonfatal disease, reversible, hypoxia-induced cytotoxic edema occurred predominantly in the white matter in children, and in the basal ganglia in adults. In fatal cases, quantitative ADC histogram analyses also demonstrated different end-stage patterns between adults and children: Severe hypoxia, evidenced by global ADC decrease and elevated plasma levels of lipocalin-2 and microRNA-150, was associated with a fatal outcome in adults. In fatal pediatric disease, our results corroborate an increase in brain volume, leading to augmented cerebral pressure, brainstem herniation, and death. Conclusions Our findings suggest distinct pathogenic patterns in pediatric and adult cerebral malaria with a stronger cytotoxic component in adults, supporting the development of age-specific adjunct therapies.


Author(s):  
Neda Ghobadi Samian ◽  
Keivan Maghooli ◽  
Fardad Farokhi

Purpose: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is characterized by impaired social interactions. Early detection can prevent the progression of the disease. So far, much research has been done to better diagnose autism. Investigation of brain structure using Magnetic Resonance Imaging (MRI) provides valuable information on the evolution of the brain of patients with autism.   Materials and Methods: In this study, we equally selected T1-MRI data from 20 control subjects and 20 patients, aged under 13 years (male and female, right hand and left hand). MRI research has shown that the brain of autistic children has grown locally and globally. In this paper, for the brain volumetric evaluation of autistic patients, the MRI data was segmented and then analyzed with a statistical method, which has been investigated more generally, in both the cortical and subcortical areas. Results: We extracted 110 cortical and subcortical brain areas. The statistical analysis show which areas are important in discriminant between ASD and healthy control groups. According to the results of MRI, an increase in overall growth is seen in the subcortical areas of the brain (amygdala and hippocampus) as well as the cerebellum, but in adults with autism, a decrease in brain volume is seen. Conclusion: In this study, we analyze the T1-MRI data of ASD subjects for early detection of Autism disorder. Our results were shown in the 6 brain areas that have P-values under 0.005. These areas are important in the early detestation and treatment of ASD.


2006 ◽  
Vol 36 (6) ◽  
pp. 827-834 ◽  
Author(s):  
SASKIA J. M. C. PALMEN ◽  
SARAH DURSTON ◽  
HILDE NEDERVEEN ◽  
HERMAN VAN ENGELAND

Background. Autism is a neurodevelopmental disorder associated with slight increases in brain volume. There has been some suggestion that medial temporal lobe structures may be preferentially involved in this disorder, although results have not always been consistent. Here, we investigate amygdala and hippocampus volumes in medication-naive subjects with high-functioning autism.Method. Whole-brain magnetic resonance imaging scans were acquired from 42 patients and 42 closely matched, healthy control subjects.Results. Amygdala volume did not differ significantly between patients and controls. A significant increase in hippocampal volume was proportional to an increase in overall brain volume.Conclusions. These results argue against preferential involvement of medial temporal lobe structures in autism, at least in high-functioning medication-naive individuals.


2020 ◽  
Vol 3 ◽  
Author(s):  
Jonathan Dietrich ◽  
Zoe Guckien ◽  
MaKayla Picklesimer ◽  
Christina Sparks ◽  
David Haas ◽  
...  

Background/Objective: Previous small studies have shown that prenatal opioid-exposed (POE) infants and older children display decreased cerebral, cerebellar, or subcortical brain volumes. However, these studies are plagued by suboptimal reference standards or were unable to correct for the influence of other environmental factors in older children. Therefore, our goal was to study differences in brain volume of POE infants when compared to a geographically matched population. We hypothesized that there will be a significant decrease in total brain volume of the POE infants in comparison to the non-opioid exposed control infants, including a reduction in the cerebellar volume.    Methods: This was an IRB approved prospective study of mothers and infants with POE and controls without POE. All recruited infants underwent MRI scans of the brain before they reached a corrected age of 2 months. The T1-weighted MRI images were analyzed by Infant FreeSurfer and segmented into ROIs. The segmentations were manually checked and edited. An ANOVA analysis was performed to compare the cerebellar and total brain volume datasets. We corrected for gender, corrected gestational age at MRI scan, and total brain volume where necessary.     Results: 42 infants were included in the study, 21 with POE and 21 control infants. There was a significant difference in the mean gestational age of POE infants (38.28±2.13) compared to control infants (39.42±0.72). On quantitative analysis, the POE group had a significantly reduced total brain and supratentorial volume in comparison to the controls. The cerebellar volume was also significantly smaller in POE, but this significance did not persist when the total brain volume was included in the model.     Conclusion: The supratentorial region is affected disproportionately more than the cerebellum in POE. Specific reductions in cortical, subcortical, and white matter volume need to be further investigated and their influence on developmental outcomes need to be studied. 


Author(s):  
Xianwen Shang ◽  
Edward Hill ◽  
Zhuoting Zhu ◽  
Jiahao Liu ◽  
B. Zongyuan Ge ◽  
...  

Little is known about whether the association of hypertension with brain volume and dementia is modified by an individual’s age at their diagnosis of hypertension. Our analysis was based on the UK Biobank with baseline data collected between 2006 and 2010. Brain magnetic resonance imaging was used to measure brain volumes between 2014 and 2019. Dementia was ascertained using hospital inpatient, mortality, and self-reported data until 2021. We randomly selected a control participant for each hypertensive participant stratified by hypertension diagnosis age using propensity score. The cohort comprised 11 399 individuals with hypertension and 11 399 controls for the brain volume analysis and 124 053 individuals with hypertension and 124 053 controls for the dementia analysis. Individuals with hypertension diagnosed at ages <35 (β (95% CI, −10.83 [−19.27 to −2.39] mL), 35 to 44 (−6.82 [−12.18 to −1.46] mL), and 45 to 54 years (−3.77 [−6.91 to −0.64] mL) had smaller total brain volume compared with the corresponding controls in the multivariable analysis. Similarly, hypertension diagnosed in early- and mid-life was independently associated with smaller volumes of gray matter, peripheral cortical gray matter, and white matter. Over a median follow-up of 11.9 years, 4626 cases of incident all-cause dementia were documented. Individuals with hypertension diagnosed at 35 to 44 years of age only (hazard ratio [95% CI]: 1.61 [1.31–1.99]) had a higher risk of all-cause dementia compared with the corresponding controls after adjustment for covariates. Hypertension diagnosed in young adulthood or mid-life, but not late life is associated with smaller brain volumes and an increased risk of dementia.


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