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Psychiatric diagnoses and inconsistent results of association studies in behavioral genetics.

Case-control association studies investigating polymorphisms of candidate genes in behavioral disorders have produced a lot of positive and negative findings with few consistent replications. The inconsistent results of association studies in behavioral genetics are usually explained by the fact that significant-appearing relationships may be found as an artifact of genetic differences between the cases and controls because population stratification (or admixture) due to ethnic variation or other confounding factors can generate considerable population differences in marker allele frequencies. The author suggests that a major problem of association studies in psychiatric genetics is that psychiatric diagnoses are not biologically real disease entities: syndromal psychiatric diagnostic categories such as depression or schizophrenia include etiologically, pathologically, and prognostically heterogenous disorders. The author further suggests that extensive clinical research and observations are necessary to classify heterogeneous diagnostic categories into more scientific and more homogenous disease entities.

Case-Control Studies↗

Behavior genetics of choice of oviposition sites in Drosophila melanogaster. I. Genetic variability and analysis of behavior.

Females of Drosophila melanogaster were given a choice of oviposition site either on the surface of the medium or on the surface of paper positioned vertically on the medium. A significant difference was seen in the proportion of eggs deposited on the paper among wild strains of different geographic origins. Bidirectional selection for oviposition on these two sites was effective. These selected lines were examined under various conditions to determine the factors involved in this site selection for oviposition. The lines that chose medium laid eggs only on substrates into which eggs could be inserted. The lines preferring paper showed no strict requirement for burying their eggs. Tarsal sensillae were involved in site discrimination.

Animals↗

The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. II. Results.

The results of psychological examinations on 298 adult male probands with various inherited EEG variants are described. They may be summarized as follows: 1) The low-voltage (N) group scored high in intelligence tests, especially in spatial orientation. Personality scores revealed this group as 'normal', extravert, group-dependent, and not very energetic. 2) The borderline low-voltage (NG) group showed slight weakness in abstract thinking, short-time memory, and motor skills and a relatively strong tendency to have 'neurotic' complaints. Reaction time and motor skills were poor. 3) The occipital fast alpha-variants (BO) group performed very well in tests of abstract thinking and motor skills. 4) The monotonous alpha (R) group showed average performance in most intelligence scores but above-average in short-time memory and in precision under stress conditions. Personality scores indicated high spontaneous activity and toughmindedness. 5) The BG (fronto-precentral beta-group) category showed very low MMPI scores, indicating little neurotic tendency. Intelligence could be above average. 6) The diffuse beta (BD) group scored low in intelligence tests, especially in spatial orientation, and had a high error rate in tests measuring concentration and precision. Most differences were relatively small; the whole range of test scores could be found in all EEG groups.

Adult↗

The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. III. Interpretation of the results.

Interpretation of the results from psychological examinations of 298 probands with inherited EEG variants requires (1) critical evaluation of previous literature on psychological EEG correlates, (2) knowledge of the main concepts and experimental approaches for elucidating the basic mechanisms of EEG rhythms, (3) discussion of previous attempts to link psychological variation in human populations with corresponding variation in brain function, and (4) interpretation of results from considerations at these three levels with the data from our own study. At the first level (previous psychological studies), comparison with Schmettau's study proved to be especially revealing: Her conclusions about personality correlates with high alpha-index and with "flat" EEGs were very similar to ours with the monotonous alpha- (R) and low-voltage (N) EEGs, respectively. Her EEG type with high beta-index overlaps with our beta-diffuse (BD) type; a tendency to psychasthenia and low resistance to stress is less obvious in our group, but is expressed indirectly by reduced speed and accuracy in tests requiring attentiveness and persistence. The correlation between alpha-frequency and intelligence found in other studies was confirmed by the especially high intelligence scores of our group with occipital fast alpha-variants (BO). At the second and third levels of the discussion (EEG mechanisms; neurophysiological theories), the cooperation of cerebral cortex (EEG battery), thalamus (pacemaker), and ARAS (tonic arousal) is discussed, and the personality typologies of Eysenck and Claridge are mentioned. From this and other evidence, the following hypotheses are discussed: 1) The personality profiles of the R group are influenced by high activity and efficiency of the thalamic alpha-pacemaker(s), which leads to a high degree of modulation, selection, and amplification of afferent stimuli. 2) In the countertype of this EEG variant, the N EEG, a low modulation and amplification by the thalamic alpha-pacemaker is assumed. This leads to relatively low intensity of feeling and to low spontaneous activity, but to faster information processing. Combined with an increased level of tonic arousal in the ARAS, it may cause certain 'neurotic' complaints (our low-voltage borderline (NG) group). 3) The EEG with diffuse beta-waves (BD) is caused by a high level of tonic arousal in the ARAS, which tends to distrub the thalamocortical circuit. This leads to reduced stress resistance and to impairment of intellectual functions, especially space perception. Due to limited evidence, the next two hypotheses are advanced only tentatively: 4) alpha-rhythm with very high frequency 16--19 c/s) leads to improvement of information processing and, hence, to high intellectual performance and motor dexterity. 5) Probands with frontoprecentral beta-groups (BG) show no psychological signs of increased tonic arousal; therefore, these beta-groups are caused not by increased tonic arousal of the ARAS, but by a genetic variant of a thalamic subsystem.

Adult↗