scholarly journals The Heritability of Cortical Folding: Evidence from the Human Connectome Project

2020 ◽  
Vol 31 (1) ◽  
pp. 702-715
Author(s):  
J Eric Schmitt ◽  
Armin Raznahan ◽  
Siyuan Liu ◽  
Michael C Neale

Abstract The mechanisms underlying cortical folding are incompletely understood. Prior studies have suggested that individual differences in sulcal depth are genetically mediated, with deeper and ontologically older sulci more heritable than others. In this study, we examine FreeSurfer-derived estimates of average convexity and mean curvature as proxy measures of cortical folding patterns using a large (N = 1096) genetically informative young adult subsample of the Human Connectome Project. Both measures were significantly heritable near major sulci and primary fissures, where approximately half of individual differences could be attributed to genetic factors. Genetic influences near higher order gyri and sulci were substantially lower and largely nonsignificant. Spatial permutation analysis found that heritability patterns were significantly anticorrelated to maps of evolutionary and neurodevelopmental expansion. We also found strong phenotypic correlations between average convexity, curvature, and several common surface metrics (cortical thickness, surface area, and cortical myelination). However, quantitative genetic models suggest that correlations between these metrics are largely driven by nongenetic factors. These findings not only further our understanding of the neurobiology of gyrification, but have pragmatic implications for the interpretation of heritability maps based on automated surface-based measurements.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xiaoyu Wang ◽  
Julien Lefèvre ◽  
Amine Bohi ◽  
Mariam Al Harrach ◽  
Mickael Dinomais ◽  
...  

AbstractAbnormal cortical folding patterns, such as lissencephaly, pachygyria and polymicrogyria malformations, may be related to neurodevelopmental disorders. In this context, computational modeling is a powerful tool to provide a better understanding of the early brain folding process. Recent studies based on biomechanical modeling have shown that mechanical forces play a crucial role in the formation of cortical convolutions. However, the effect of biophysical parameters in these models remain unclear. In this paper, we investigate the effect of the cortical growth, the initial geometry and the initial cortical thickness on folding patterns. In addition, we not only use several descriptors of the folds such as the dimensionless mean curvature, the surface-based three-dimensional gyrification index and the sulcal depth, but also propose a new metric to quantify the folds orientation. The results demonstrate that the cortical growth mode does almost not affect the complexity degree of surface morphology; the variation in the initial geometry changes the folds orientation and depth, and in particular, the slenderer the shape is, the more folds along its longest axis could be seen and the deeper the sulci become. Moreover, the thinner the initial cortical thickness is, the higher the spatial frequency of the folds is, but the shallower the sulci become, which is in agreement with the previously reported effects of cortical thickness.


2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Mianxin Liu ◽  
Xinyang Liu ◽  
Andrea Hildebrandt ◽  
Changsong Zhou

Abstract The entropy profiles of cortical activity have become novel perspectives to investigate individual differences in behavior. However, previous studies have neglected foundational aspects of individual entropy profiles, that is, the test–retest reliability, the predictive power for cognitive ability in out-of-sample data, and the underlying neuroanatomical basis. We explored these issues in a large young healthy adult dataset (Human Connectome Project, N = 998). We showed the whole cortical entropy profile from resting-state functional magnetic resonance imaging is a robust personalized measure, while subsystem profiles exhibited heterogeneous reliabilities. The limbic network exhibited lowest reliability. We tested the out-of-sample predictive power for general and specific cognitive abilities based on reliable cortical entropy profiles. The default mode and visual networks are most crucial when predicting general cognitive ability. We investigated the anatomical features underlying cross-region and cross-individual variations in cortical entropy profiles. Cortical thickness and structural connectivity explained spatial variations in the group-averaged entropy profile. Cortical folding and myelination in the attention and frontoparietal networks determined predominantly individual cortical entropy profile. This study lays foundations for brain-entropy-based studies on individual differences to understand cognitive ability and related pathologies. These findings broaden our understanding of the associations between neural structures, functional dynamics, and cognitive ability.


2018 ◽  
Author(s):  
Shelly Renee Cooper ◽  
Joshua James Jackson ◽  
Deanna Barch ◽  
Todd Samuel Braver

Neuroimaging data is being increasingly utilized to address questions of individual difference. When examined with task-related fMRI (t-fMRI), individual differences are typically investigated via correlations between the BOLD activation signal at every voxel and a particular behavioral measure. This can be problematic because: 1) correlational designs require evaluation of t-fMRI psychometric properties, yet these are not well understood; and 2) bivariate correlations are severely limited in modeling the complexities of brain-behavior relationships. Analytic tools from psychometric theory such as latent variable modeling (e.g., structural equation modeling) can help simultaneously address both concerns. This review explores the advantages gained from integrating psychometric theory and methods with cognitive neuroscience for the assessment and interpretation of individual differences. The first section provides background on classic and modern psychometric theories and analytics. The second section details current approaches to t-fMRI individual difference analyses and their psychometric limitations. The last section uses data from the Human Connectome Project to provide illustrative examples of how t-fMRI individual differences research can benefit by utilizing latent variable models.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yusuke Takahashi ◽  
Anqing Zheng ◽  
Shinji Yamagata ◽  
Juko Ando

AbstractUsing a genetically informative design (about 2000 twin pairs), we investigated the phenotypic and genetic and environmental architecture of a broad construct of conscientiousness (including conscientiousness per se, effortful control, self-control, and grit). These four different measures were substantially correlated; the coefficients ranged from 0.74 (0.72–0.76) to 0.79 (0.76–0.80). Univariate genetic analyses revealed that individual differences in conscientiousness measures were moderately attributable to additive genetic factors, to an extent ranging from 62 (58–65) to 64% (61–67%); we obtained no evidence that shared environmental influences were observed. Multivariate genetic analyses showed that for the four measures used to assess conscientiousness, genetic correlations were stronger than the corresponding non-shared environmental correlations, and that a latent common factor accounted for over 84% of the genetic variance. Our findings suggest that individual differences in the four measures of conscientiousness are not distinguishable at both the phenotypic and behavioural genetic levels, and that the overlap was substantially attributable to genetic factors.


2021 ◽  
Author(s):  
Qiushi Wang ◽  
Yuehua Xu ◽  
Tengda Zhao ◽  
Zhilei Xu ◽  
Yong He ◽  
...  

Abstract The functional connectome is highly distinctive in adults and adolescents, underlying individual differences in cognition and behavior. However, it remains unknown whether the individual uniqueness of the functional connectome is present in neonates, who are far from mature. Here, we utilized the multiband resting-state functional magnetic resonance imaging data of 40 healthy neonates from the Developing Human Connectome Project and a split-half analysis approach to characterize the uniqueness of the functional connectome in the neonatal brain. Through functional connectome-based individual identification analysis, we found that all the neonates were correctly identified, with the most discriminative regions predominantly confined to the higher-order cortices (e.g., prefrontal and parietal regions). The connectivities with the highest contributions to individual uniqueness were primarily located between different functional systems, and the short- (0–30 mm) and middle-range (30–60 mm) connectivities were more distinctive than the long-range (>60 mm) connectivities. Interestingly, we found that functional data with a scanning length longer than 3.5 min were able to capture the individual uniqueness in the functional connectome. Our results highlight that individual uniqueness is present in the functional connectome of neonates and provide insights into the brain mechanisms underlying individual differences in cognition and behavior later in life.


PEDIATRICS ◽  
1998 ◽  
Vol 101 (Supplement_2) ◽  
pp. 539-549 ◽  
Author(s):  
Leann L. Birch ◽  
Jennifer O. Fisher

The prevalence of obesity among children is high and is increasing. We know that obesity runs in families, with children of obese parents at greater risk of developing obesity than children of thin parents. Research on genetic factors in obesity has provided us with estimates of the proportion of the variance in a population accounted for by genetic factors. However, this research does not provide information regarding individual development. To design effective preventive interventions, research is needed to delineate how genetics and environmental factors interact in the etiology of childhood obesity. Addressing this question is especially challenging because parents provide both genes and environment for children. An enormous amount of learning about food and eating occurs during the transition from the exclusive milk diet of infancy to the omnivore's diet consumed by early childhood. This early learning is constrained by children's genetic predispositions, which include the unlearned preference for sweet tastes, salty tastes, and the rejection of sour and bitter tastes. Children also are predisposed to reject new foods and to learn associations between foods' flavors and the postingestive consequences of eating. Evidence suggests that children can respond to the energy density of the diet and that although intake at individual meals is erratic, 24-hour energy intake is relatively well regulated. There are individual differences in the regulation of energy intake as early as the preschool period. These individual differences in self-regulation are associated with differences in child-feeding practices and with children's adiposity. This suggests that child-feeding practices have the potential to affect children's energy balance via altering patterns of intake. Initial evidence indicates that imposition of stringent parental controls can potentiate preferences for high-fat, energy-dense foods, limit children's acceptance of a variety of foods, and disrupt children's regulation of energy intake by altering children's responsiveness to internal cues of hunger and satiety. This can occur when well-intended but concerned parents assume that children need help in determining what, when, and how much to eat and when parents impose child-feeding practices that provide children with few opportunities for self-control. Implications of these findings for preventive interventions are discussed.


2020 ◽  
Author(s):  
Hyuk Jin Yun ◽  
Juan David Ruiz Perez ◽  
Patricia Sosa ◽  
J Alejandro Valdés ◽  
Neel Madan ◽  
...  

Abstract Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. In this study, we investigated regional sulcal folding depth as well as global cortical gyrification from fetal brain MRIs. Nine fetuses with DS (29.1 ± 4.24 gestational weeks [mean ± standard deviation]) were compared with 17 typically developing [TD] fetuses (28.4 ± 3.44). Fetuses with DS showed lower whole-brain average sulcal depths and gyrification index than TD fetuses. Significant decreases in sulcal depth were found in bilateral Sylvian fissures and right central and parieto-occipital sulci. On the other hand, significantly increased sulcal depth was shown in the left superior temporal sulcus, which is related to atypical hemispheric asymmetry of cortical folding. Moreover, these group differences increased as gestation progressed. This study demonstrates that regional sulcal depth is a sensitive marker for detecting alterations of cortical development in DS during fetal life, which may be associated with later neurocognitive impairment.


2019 ◽  
Vol 32 (6) ◽  
pp. 1035-1048 ◽  
Author(s):  
Jean-François Mangin ◽  
Yann Le Guen ◽  
Nicole Labra ◽  
Antoine Grigis ◽  
Vincent Frouin ◽  
...  

Abstract Cortical folding is a hallmark of brain topography whose variability across individuals remains a puzzle. In this paper, we call for an effort to improve our understanding of the pli de passage phenomenon, namely annectant gyri buried in the depth of the main sulci. We suggest that plis de passage could become an interesting benchmark for models of the cortical folding process. As an illustration, we speculate on the link between modern biological models of cortical folding and the development of the Pli de Passage Frontal Moyen (PPFM) in the middle of the central sulcus. For this purpose, we have detected nine interrupted central sulci in the Human Connectome Project dataset, which are used to explore the organization of the hand sensorimotor areas in this rare configuration of the PPFM.


Author(s):  
Gina Marie Mason ◽  
Goffredina Spanó ◽  
Jamie Edgin

Abstract This study examined individual differences in ADHD symptoms and executive function (EF) in children with Down syndrome (DS) in relation to the dopamine receptor D4 (DRD4) gene, a gene often linked to ADHD in people without DS. Participants included 68 individuals with DS (7-21 years), assessed through laboratory tasks, caregiver reports, and experimenter ratings. Saliva samples were collected from the DS group and 66 children without DS to compare DRD4 allele distribution, showing no difference between the groups. When the sample with DS was stratified for ethnicity (n  =  32), the DRD4 7-repeat allele significantly related to parent and experimenter ratings, but not to laboratory assessments. These results suggest that nontrisomy genetic factors may contribute to individual differences in ADHD symptoms in persons with DS.


2010 ◽  
Vol 57 (4) ◽  
pp. 145-149 ◽  
Author(s):  
Ken-ichi Fukuda ◽  
Masakazu Hayashida ◽  
Kazutaka Ikeda ◽  
Yoshihiko Koukita ◽  
Tatsuya Ichinohe ◽  
...  

Abstract We experience individual differences in pain and sensitivity to analgesics clinically. Genetic factors are known to influence individual difference. Polymorphisms in the human OPRM1 gene, which encodes the μ-opioid receptors, may be associated with the clinical effects of opioid analgesics. The purpose of this study was to determine whether any of the 5 common single-nucleotide polymorphisms (SNPs) of the OPRM1 gene could affect the antinociceptive effect of fentanyl. Fentanyl was less effective in subjects with the G allele of the OPRM1 A118G SNP than in those with the A allele, and subjects with the G allele required more fentanyl for adequate postoperative pain control than those with the A allele. In the future, identifying SNPs might give us information to modulate the analgesic dosage of opioid individually for better pain control. Factors underlying individual differences in sensitivity to pain other than genetic factors may include environmental and psychological factors. We therefore examined the effects of preoperative anxiety on the analgesic efficacy of fentanyl in patients undergoing sagittal split mandibular osteotomy (SSMO). From among the patients enrolled in the study, 60 patients (male/female: 18/42, age: 24.6 ± 6.7 years) who gave informed consent were examined for correlations between preoperative trait/state anxiety, as measured by the state-trait anxiety inventory (STAI) on the day before surgery, and postoperative consumption of patient-controlled analgesia (PCA) fentanyl and visual analog scale (VAS) assessment by patients. Levels of trait and state anxieties measured by the STAI were correlated with neither the consumption of PCA fentanyl nor postoperative VAS assessment. These findings suggest that psychological factors are unlikely to affect postoperative pain or the use of analgesics.


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