Biology subjects

Hulshoff Pol, H. E.

Publications and source records attributed to Hulshoff Pol, H. E..

5 recordsLinked to original sources

bioRxiv2025

White matter microstructure changes across the lifespan: a meta-analysis of longitudinal diffusion MRI studies

BackgroundWhite matter in the human brain is known to play a critical role in facilitating communication between different brain regions. White matter microstructure is often quantified using fractional anisotropy (FA) derived from diffusion-weighted MRI and is often considered a key measure of neural efficiency that is positively associated with motor and cognitive functioning. While lifespan trajectories of FA have been well studied in cross-sectional designs, it remains less clear how FA changes longitudinally with age across the lifespan, and whether the rates of change are influenced by genetic variation. MethodsWe systematically reviewed the evidence of white matter changes, as measured by fractional anisotropy (FA) with diffusion magnetic resonance imaging longitudinally across the lifespan, and the genetic influences on this change. Searches were conducted in Medline, PsycInfo, and EMBASE up to August 2023 with terms related to DTI/FA and longitudinal/change. Following this, genetic-related search terms were applied to the results, and the search was broadened to include other measures of white matter change. Our systematic search resulted in 29 studies that met our criteria. In addition, 14 studies investigated genetic influences on FA change rates across the lifespan. A meta-regression using a thin-plate spline model was conducted to examine annual whole-brain FA change as a function of age. ResultsAcross childhood and adolescence, FA increased, and the rate of increase slowed into early adulthood. Between ages 20 and 35, changes in FA were not statistically significant. This was followed by a significant decline in FA between ages 36 and 50. The decreases plateaued between ages 51 and 61 and then continued at a slightly slower rate towards the upper end of the age range assessed (77 years). Average FA change per year relative to baseline assessment reached a maximum of +1.1% during development, and-0.6% per year, during ageing. Significant heritability was found for change in local but not global FA during development. During ageing, common variants in genes that have been related to increased risk for neuropsychiatric disorders (APOE, HTT, MAPT) were associated in some studies with accelerated local FA decreases over time. ConclusionsIn conclusion, there are changes in white matter microstructure within individuals across the lifespan, with increases during childhood, adolescence and early adulthood, followed by a period of relative stability during early to mid-adulthood, and subsequent gradual declines from midlife onwards. Evidence is emerging for genetic influences on white matter changes over time, shaping individual trajectories.

neuroscience↗

bioRxiv2022

Automated segmentation of fetal intracranial volume in 3D ultrasound using deep learning: identifying sex differences in prenatal brain development

The human brain undergoes major developmental changes during pregnancy. Three-dimensional (3D) ultrasound images allow for the opportunity to investigate typical prenatal brain development on a large scale. Here, we developed a convolutional neural network (CNN) model for automated segmentation of fetal intracranial volume (ICV) from 3D ultrasound, and we applied the trained model in a large independent sample (N = 9795 ultrasounds; N=1763 participants) from the YOUth Baby and Child cohort measured at 20- and 30-week of gestational age to investigate sex differences in fetal ICV and ICV growth. 168 3D ultrasound images with ICV annotations were included to develop a 3D CNN model for automated fetal ICV segmentation. A data augmentation strategy provided physical variation and additional data to train the network. K-fold cross-validation and Bayesian optimization were used for network selection and the ensemble-based system combined multiple networks to form the final ensemble network. The final ensemble network produced consistent and high-quality segmentations of ICV. Our trained model successfully predicted ICV and ICV growth in a large independent longitudinal data set. Boys had significantly larger ICV at 20- (B=2.83; p=1.4e-13) and 30-weeks of pregnancy (B=12.01; p=2.0e-28), and more pronounced ICV growth than girls (t=-4.395; p=1.3e-5). Our approach provides us with the opportunity to investigate fetal brain development on a much larger scale and to answer fundamental questions related to prenatal brain development.

neuroscience↗

bioRxiv2022

Heritability of Urinary Amines, Organic Acids, and Steroid Hormones in Children

Variation in metabolite levels reflects individual differences in genetic and environmental factors. Here, we investigated the role of these factors in urinary metabolomics data in children. We examined the effects of sex and age on 86 metabolites, as measured on three metabolomics platforms that target amines, organic acids, and steroid hormones. Next, we estimated their heritability in a twin cohort of 1300 twins (age range: 5.7 - 12.9 years). We observed associations between age and 50 metabolites and between sex and 21 metabolites. The mean monozygotic (MZ) and dizygotic (DZ) correlations for urinary metabolites were 0.51 (range: 0.25-0.75) and 0.16 (range: 0.01-0.46) for the amines, 0.52 (range: 0.33-0.64) and 0.23 (range: 0.07-0.35) for the organic acids, and 0.61 (range: 0.43-0.81) and 0.25 (range: 0.11-0.44) for the steroids. Broad-sense heritability was 0.49 (range: 0.25-0.64), 0.50 (range: 0.33-0.62), and 0.64 (range: 0.43-0.81) for 50 amines, 13 organic acids, and 6 steroids, and narrow-sense heritability was 0.50 (range: 0.37-0.68), 0.50 (0.23-0.61), and 0.47 (range: 0.32-0.70) for 6 amines, 7 organic acids, and 4 steroids. We conclude that urinary metabolites in children have substantial heritability, with similar estimates for amines and organic acids, and higher estimates for steroid hormones.

genomics↗

bioRxiv2022

Dissociable Cellular and Genetic Mechanisms of Cortical Thinning at Different Life Stages

Mechanisms underpinning age-related variations in cortical thickness in the human brain remain poorly understood. We investigated whether inter-regional age-related variations in cortical thinning (in a multicohort neuroimaging dataset from the ENIGMA Lifespan Working Group totalling 14,248 individuals, aged 4-89 years) depended on cell-specific marker gene expression levels. We found differences amidst early-life (<20 years), mid-life (20-60 years), and late-life (>60 years) in the patterns of association between inter-regional profiles of cortical thickness and expression profiles of marker genes for CA1 and S1 pyramidal cells, astrocytes, and microglia. Gene ontology and enrichment analyses indicated that each of the three life-stages was associated with different biological processes and cellular components: synaptic modeling in early life, neurotransmission in mid-life, and neurodegeneration in late-life. These findings provide mechanistic insights into age-related cortical thinning during typical development and aging.

neuroscience↗

bioRxiv2020

Sex differences in lifespan trajectories and variability of human sulcal and gyral morphology

Sex differences in development and aging of human sulcal morphology have been understudied. We charted sex differences in trajectories and inter-individual variability of global sulcal depth, width, and length, pial surface area, exposed (hull) gyral surface area, unexposed sulcal surface area, cortical thickness, and cortex volume across the lifespan in a longitudinal sample (700 scans, 194 participants two scans, 104 three scans, age range: 16-70 years) of neurotypical males and females. After adjusting for brain volume, females had thicker cortex and steeper thickness decline until age 40 years; trajectories converged thereafter. Across sexes, sulcal shortening was faster before age 40, while sulcal shallowing and widening were faster thereafter. While hull area remained stable, sulcal surface area declined and was more strongly associated with sulcal shortening than with sulcal shallowing and widening. Males showed greater variability for cortex volume and thickness and lower variability for sulcal width. Across sexes, variability decreased with age for all measures except for cortical volume and thickness. Our findings highlight the association between loss of sulcal area, notably through sulcal shortening, with cortex volume loss. Studying sex differences in lifespan trajectories may improve knowledge of individual differences in brain development and the pathophysiology of neuropsychiatric conditions.

neuroscience↗