Heritability of specific language impairment depends on diagnostic criteria

Heritability estimates for specific language impairment (SLI) have been inconsistent. Four twin studies reported heritability of 0.5 or more, but a recent report from the Twins Early Development Study found negligible genetic influence in 4-year-olds. We considered whether the method of ascertainment influenced results and found substantially higher heritability if SLI was defined in terms of referral to speech and language pathology services than if defined by language test scores. Further analysis showed that presence of speech difficulties played a major role in determining whether a child had contact with services. Childhood language disorders that are identified by population screening are likely to have a different phenotype and different etiology from clinically referred cases. Genetic studies are more likely to find high heritability if they focus on cases who have speech difficulties and who have been referred for intervention

Abelian gauge potentials on cubic lattices

The study of the properties of quantum particles in a periodic potential subject to a magnetic field is an active area of research both in physics and mathematics; it has been and it is still deeply investigated. In this review we discuss how to implement and describe tunable Abelian magnetic fields in a system of ultracold atoms in optical lattices. After discussing two of the main experimental schemes for the physical realization of synthetic gauge potentials in ultracold set-ups, we study cubic lattice tight-binding models with commensurate flux. We finally examine applications of gauge potentials in one-dimensional rings.Comment: To appear on: "Advances in Quantum Mechanics: Contemporary Trends and Open Problems", G. Dell'Antonio and A. Michelangeli eds., Springer-INdAM series 201

NN Core Interactions and Differential Cross Sections from One Gluon Exchange

We derive nonstrange baryon-baryon scattering amplitudes in the nonrelativistic quark model using the ``quark Born diagram" formalism. This approach describes the scattering as a single interaction, here the one-gluon-exchange (OGE) spin-spin term followed by constituent interchange, with external nonrelativistic baryon wavefunctions attached to the scattering diagrams to incorporate higher-twist wavefunction effects. The short-range repulsive core in the NN interaction has previously been attributed to this spin-spin interaction in the literature; we find that these perturbative constituent-interchange diagrams do indeed predict repulsive interactions in all I,S channels of the nucleon-nucleon system, and we compare our results for the equivalent short-range potentials to the core potentials found by other authors using nonperturbative methods. We also apply our perturbative techniques to the N$\Delta$ and $\Delta\Delta$ systems: Some $\Delta\Delta$ channels are found to have attractive core potentials and may accommodate ``molecular" bound states near threshold. Finally we use our Born formalism to calculate the NN differential cross section, which we compare with experimental results for unpolarised proton-proton elastic scattering. We find that several familiar features of the experimental differential cross section are reproduced by our Born-order result.Comment: 27 pages, figures available from the authors, revtex, CEBAF-TH-93-04, MIT-CTP-2187, ORNL-CCIP-93-0

Time--delay autosynchronization of the spatio-temporal dynamics in resonant tunneling diodes

The double barrier resonant tunneling diode exhibits complex spatio-temporal patterns including low-dimensional chaos when operated in an active external circuit. We demonstrate how autosynchronization by time--delayed feedback control can be used to select and stabilize specific current density patterns in a noninvasive way. We compare the efficiency of different control schemes involving feedback in either local spatial or global degrees of freedom. The numerically obtained Floquet exponents are explained by analytical results from linear stability analysis.Comment: 10 pages, 16 figure

On the existence of a Bose Metal at T=0

This paper aims to justify, at a microscopic level, the existence of a two-dimensional Bose metal, i.e. a metallic phase made out of Cooper pairs at T=0. To this end, we consider the physics of quantum phase fluctuations in (granular) superconductors in the absence of disorder and emphasise the role of two order parameters in the problem, viz. phase order and charge order. We focus on the 2-d Bose Hubbard model in the limit of very large fillings, i.e. a 2-d array of Josephson junctions. We find that the algebra of phase fluctuations is that of the Euclidean group $E_{2}$ in this limit, and show that the model is equivalent to two coupled XY models in (2+1)-d, one corresponding to the phase degrees of freedom, and the other the charge degrees of freedom. The Bose metal, then, is the phase in which both these degrees of freedom are disordered(as a result of quantum frustration). We analyse the model in terms of its topological excitations and suggest that there is a strong indication that this state represents a surface of critical points, akin to the gapless spin liquid states. We find a remarkable consistency of this scenario with certain low-T_c thin film experiments.Comment: 16 pages, 2 figure

Astrophysical structures from primordial quantum black holes

The characteristic sizes of astrophysical structures, up to the whole observed Universe, can be recovered, in principle, assuming that gravity is the overall interaction assembling systems starting from microscopic scales, whose order of magnitude is ruled by the Planck length and the related Compton wavelength. This result agrees with the absence of screening mechanisms for the gravitational interaction and could be connected to the presence of Yukawa corrections in the Newtonian potential which introduce typical interaction lengths. This result directly comes out from quantization of primordial black holes and then characteristic interaction lengths directly emerge from quantum field theory.Comment: 11 page

The parent?infant dyad and the construction of the subjective self

Developmental psychology and psychopathology has in the past been more concerned with the quality of self-representation than with the development of the subjective agency which underpins our experience of feeling, thought and action, a key function of mentalisation. This review begins by contrasting a Cartesian view of pre-wired introspective subjectivity with a constructionist model based on the assumption of an innate contingency detector which orients the infant towards aspects of the social world that react congruently and in a specifically cued informative manner that expresses and facilitates the assimilation of cultural knowledge. Research on the neural mechanisms associated with mentalisation and social influences on its development are reviewed. It is suggested that the infant focuses on the attachment figure as a source of reliable information about the world. The construction of the sense of a subjective self is then an aspect of acquiring knowledge about the world through the caregiver's pedagogical communicative displays which in this context focuses on the child's thoughts and feelings. We argue that a number of possible mechanisms, including complementary activation of attachment and mentalisation, the disruptive effect of maltreatment on parent-child communication, the biobehavioural overlap of cues for learning and cues for attachment, may have a role in ensuring that the quality of relationship with the caregiver influences the development of the child's experience of thoughts and feelings

The genetic architecture of the human cerebral cortex

INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. RATIONALE To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. RESULTS We identified 306 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 299 loci for which replication data were available, 241 loci influencing surface area and 14 influencing thickness remained significant after replication, with 199 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 12 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness. To identify specific genetic influences on individual cortical regions, we controlled for global measures (total surface area or average thickness) in the regional analyses. After multiple testing correction, we identified 175 loci that influence regional surface area and 10 that influence regional thickness. Loci that affect regional surface area cluster near genes involved in the Wnt signaling pathway, which is known to influence areal identity. We observed significant positive genetic correlations and evidence of bidirectional causation of total surface area with both general cognitive functioning and educational attainment. We found additional positive genetic correlations between total surface area and Parkinson’s disease but did not find evidence of causation. Negative genetic correlations were evident between total surface area and insomnia, attention deficit hyperactivity disorder, depressive symptoms, major depressive disorder, and neuroticism. CONCLUSION This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, we find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function

Novel genetic loci associated with hippocampal volume

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness