The Concept of Abnormality in Medical Genetics

This paper explores usage of the concept ofabnormality in medical genetics and proposesdirectives for more careful usage of this concept.The conceptual difficulties are first explored, thena model is developed to assess actual usage, followedby analysis of a sample of genetic textbooks andgenetics literature. It appears that fact andvaluation are often intermingled, that referencestandards used to define 'genetic abnormalities' areoften not clear and that the concept of abnormality isoften used independent of the degree of certainty withwhich the altered genetype develops into a (seriously)harmful phenotype. On the basis of these findings itis argued that more restraint and more careful use ofthe concept of genetic abnormality of medical geneticsis appropriate as well as more agreement on the use ofreference standards.     

A new estimator of the uniqueness in factor analysis

A closed form estimator of the uniqueness (unique variance) in factor analysis is proposed. It has analytically desirable properties—consistency, asymptotic normality and scale invariance. The estimation procedure is given through the application to the two sets of Emmett's data and Holzinger and Swineford's data. The new estimator is shown to lead to values rather close to the maximum likelihood estimator.     

Some small sample results for maximum likelihood estimation in multidimensional scaling

Some aspects of the small sample behavior of maximum likelihood estimates in multidimensional scaling are investigated by Monte Carlo. An investigation of Model M2 in the MULTISCALE program package shows that the chi-square test of dimensionality requires a correction of tabled chi-square values to be unbiased. A formula for this correction in the case of two dimensions is estimated. The power of the test of dimensionality is acceptable with as few as two replications for 15 stimuli and as few as five replications for 10 stimuli. The biases in the exponent and standard error estimates in this model are also investigated.The research reported here was supported by grant number APA 320 to the author by the National Science and Engineering Research Council of Canada.     

Confidence regions for multidimensional scaling analysis

Techniques are developed for surrounding each of the points in a multidimensional scaling solution with a region which will contain the population point with some level of confidence. Bayesian credibility regions are also discussed. A general theorem is proven which describes the asymptotic distribution of maximum likelihood estimates subject to identifiability constraints. This theorem is applied to a number of models to display asymptotic variance-covariance matrices for coordinate estimates under different rotational constraints. A technique is described for displaying Bayesian conditional credibility regions for any sample size.The research reported here was supported by grant number APA 320 to the author by the National Research Council of Canada.     

A short note on the estimation of the asymptotic covariance matrix for polychoric correlations

By using a Taylor expansion of the equations that define the two step estimator for polychoric correlations, the asymptotic covariance matrix for the estimated correlations can be derived in a simple and straightforward way.     

Analysis of residuals for the multionmial item response model

Using the item response model as developed on the multinomial distribution, asymptotic variances are obtained for residuals associated with response patterns and first-, and second-order marginal frequencies of manifest variables. When the model does not fit well, an examination of these residuals may reveal the source of the poor fit. Finally, a limited-information test of fit for the model is developed by using residuals defined for the first-, and second-order marginals. Model evaluation based on residuals for these marginals is particularly useful when the response pattern frequencies are sparse.The author would like to thank Yasuo Amemiya and Joseph Lucke for helpful suggestions. This research was supported by a Research Incentive Grant from Arizona State University.     

Alternative test criteria in covariance structure analysis: A unified approach

In the context of covariance structure analysis, a unified approach to the asymptotic theory of alternative test criteria for testing parametric restrictions is provided. The discussion develops within a general framework that distinguishes whether or not the fitting function is asymptotically optimal, and allows the null and alternative hypothesis to be only approximations of the true model. Also, the equivalent of the information matrix, and the asymptotic covariance matrix of the vector of summary statistics, are allowed to be singular. When the fitting function is not asymptotically optimal, test statistics which have asymptotically a chi-square distribution are developed as a natural generalization of more classical ones. Issues relevant for power analysis, and the asymptotic theory of a testing related statistic, are also investigated.This research has been supported by the U.S.-Spanish Joint Committee for Cultural and Educational Cooperation, grant number V-B.854020. The author wishes to express his gratitude to P. M. Bentler who provided very helpful suggestions and research facilities—with an stimulating working environment—at the University of California, Los Angeles, where this work was undertaken. Thanks are also due to W. E. Saris who provided very valuable comments to earlier versions of this paper. Finally, it has also to be acknowledged the editor's and reviewers suggestions which led to substantial improvements of this article.     

A note on the asymptotic variance-covariance matrix of item parameter estimates in the rasch model

Lord and Wingersky have developed a method for computing the asymptotic variance-covariance matrix of maximum likelihood estimates for item and person parameters under some restrictions on the estimates which are needed in order to fix the latent scale. The method is tedious, but can be simplified for the Rasch model when one is only interested in the item parameters. This is demonstrated here under a suitable restriction on the item parameter estimates.     

Residual Normality Assumption and the Estimation of Multiple Membership Random Effects Models

While conventional hierarchical linear modeling is applicable to purely hierarchical data, a multiple membership random effects model (MMrem) is appropriate for nonpurely nested data wherein some lower-level units manifest mobility across higher-level units. Although a few recent studies have investigated the influence of cluster-level residual nonnormality on hierarchical linear modeling estimation for purely hierarchical data, no research has examined the statistical performance of an MMrem given residual non-normality. The purpose of the present study was to extend prior research on the influence of residual non-normality from purely nested data structures to multiple membership data structures. Employing a Monte Carlo simulation study, this research inquiry examined two-level MMrem parameter estimate biases and inferential errors. Simulation factors included the level-two residual distribution, sample sizes, intracluster correlation coefficient, and mobility rate. Results showed that estimates of fixed effect parameters and the level-one variance component were robust to level-two residual non-normality. The level-two variance component, however, was sensitive to level-two residual non-normality and sample size. Coverage rates of the 95% credible intervals deviated from the nominal value assumed when level-two residuals were non-normal. These findings can be useful in the application of an MMrem to account for the contextual effects of multiple higher-level units.     

Asymptotic Densities in Logic and Type Theory

This paper presents a systematic approach for obtaining results from the area of quantitative investigations in logic and type theory. We investigate the proportion between tautologies (inhabited types) of a given length n against the number of all formulas (types) of length n. We investigate an asymptotic behavior of this fraction. Furthermore, we characterize the relation between number of premises of implicational formula (type) and the asymptotic probability of finding such formula among the all ones. We also deal with a distribution of these asymptotic probabilities. Using the same approach we also prove that the probability that randomly chosen fourth order type (or type of the order not greater than 4), which admits decidable lambda definability problem, is zero. Presented by Jacek Malinowski