Journal of Intellectual Disability ResearchVolume 18, Issue 4 p. 331-353 REPORT OF SEX CHROMOSOME ABNORMALITIES IN MENTALLY RETARDED MALE OFFENDERS INCLUDING A PSYCHOLOGICAL STUDY OF PATIENTS WITH XYY AND XXYY KARYOTYPES J. BECKMANN, J. BECKMANN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Address as above.Search for more papers by this authorANNALISE DUPONT, ANNALISE DUPONT University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Institute of Psychiatric Demography, Risskov, Denmark.Search for more papers by this authorINGE ERLING, INGE ERLING University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Lillemosegaard, Regional Centre for Mentally Retarded Adults in Copenhagen, Denmark.Search for more papers by this authorPETREA JACOBSEN, PETREA JACOBSEN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Brejning Institute for Research in Mental Retardation, Cytogenetic Department, Brejning, Borkop, Denmark.Search for more papers by this authorMARGARETA MIKKELSEN, MARGARETA MIKKELSEN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark John F. Kennedy Institute, Cytogenetic Department, Glostrup, Denmark.Search for more papers by this authorALICE THEILGAARD, ALICE THEILGAARD University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Address as above.Search for more papers by this author J. BECKMANN, J. BECKMANN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Address as above.Search for more papers by this authorANNALISE DUPONT, ANNALISE DUPONT University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Institute of Psychiatric Demography, Risskov, Denmark.Search for more papers by this authorINGE ERLING, INGE ERLING University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Lillemosegaard, Regional Centre for Mentally Retarded Adults in Copenhagen, Denmark.Search for more papers by this authorPETREA JACOBSEN, PETREA JACOBSEN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Brejning Institute for Research in Mental Retardation, Cytogenetic Department, Brejning, Borkop, Denmark.Search for more papers by this authorMARGARETA MIKKELSEN, MARGARETA MIKKELSEN University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark John F. Kennedy Institute, Cytogenetic Department, Glostrup, Denmark.Search for more papers by this authorALICE THEILGAARD, ALICE THEILGAARD University Clinic of Psychiatry, Rigshopitalet, Copenhagen, Denmark Address as above.Search for more papers by this author First published: December 1974 https://doi.org/10.1111/j.1365-2788.1974.tb01245.xCitations: 3 AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume18, Issue4December 1974Pages 331-353 RelatedInformation

The effect on cognitive and psychomotor performance of the benzodiazepine (BZD) antagonist, flumazenil, in antagonising the central effect, of ethanol in man has been investigated. Eight healthy adult male volunteers, aged 23 to 32 years, participated in the study. Following a loading infusion, stable blood ethanol levels with a mean value of 1.6 g·l−1 were produced by a maintenance infusion. When stable blood levels of ethanol were reached, 5.0 mg flumazenil/placebo was administered intravenously, and after 15 and 75 min a test battery evaluating psychomotor and cognitive functions was applied.

Eight Type 1 (insulin-dependent) diabetic patients with no diabetic complications were studied on two consecutive and one subsequent overnight occasions. The aim was to evaluate the influence of nocturnal hypoglycaemia on neuropsychological and reaction time tests the following morning. Hypoglycaemia was induced by i. v. insulin infusion, blood glucose nadir was 1.5±0.3 mmol/l. Duration of hypoglycaemia (blood glucose < 3 mmol/l) was 101±38 min. Whole night sleep statistics for all patients showed no statistical differences between the normoglycaemic and hypoglycaemic nights, however, there was a tendency of prolongation of the second sleep cycle in the nights with hypoglycaemia. Each patient was used as his own control and periods with blood glucose concentration less than 3 mmol/l were compared to exactly the same periods in nights with blood glucose level over 5 mmol/l. During hypoglycaemia the amount of deep sleep was reduced and replaced by superficial sleep and arousals of short duration. Further, the reduction in deep sleep was replaced later at night. Neuropsychological test scores and reaction time measurements in the morning showed no differences between the normoglycaemic and hypoglycaemic nights. In conclusion: despite sleep disturbances, nocturnal hypoglycaemia did not impair cognitive function the following morning in Type 1 (insulin-dependent) diabetic patients.

In some diabetic patients, transition from porcine insulin (PI) to human insulin (HI) has resulted in alterations or non-appearance of the usual hypoglycaemic symptoms. The authors have, therefore, undertaken a double-blind cross-over trial with induction of hypoglycaemia with semisynthetic HI and PI administered in equimolar quantities to eight insulin-dependent men. Prior to induction of hypoglycaemia, the blood glucose (BG) was stabilized at approximately 6 mmol/l. At the time 0, the BG was 5.9 (5.4-7.1) mmol/l and 6.2 (4.8-7.1) mmol/l (NS), BS-nadir was 2.1 (1.3-2.9) mmol/l and 2.1 (1.3-2.8) mmol/l PI versus HI. At the time -15 minutes and at BG-nadir, assessment of symptoms and neuropsychological testing were performed. The total symptom scorings were identical for the two types of insulin, the maximum intraindividual difference was +1 on a scale from 0 to 3. Cognitive function was reduced significantly in hypoglycaemia with no differences for the types of insulin. The conclusion is that, in insulin-dependent diabetic patients, no differences in hypoglycaemic effects were observed between PI and HI after intravenous administration of equimolar quantities.

Behavioral investigation of men with sex chromosome anomalies has been primarily limited to the study of institutionalized individuals or patient groups. A double-blind controlled investigation of XYY and XXY men found in a birth cohort of 4591 tall men born in Copenhagen gathered sexual information and assessed the role of hormonal determinants on sexual behavior. There were significant differences in several sexual dimensions and in gender role between XYY men and their controls and XXY men and their controls as well as between XYY and XXY men. Although both proband groups differed from each other and from their controls in pituitary gonadal function, there was no evidence that adult hormonal levels mediate the effect of sex chromosome anomalies on male sexuality.

Neuropsychological testing was carried out in 16 insulin dependent (type I) diabetic men during four periods when mean blood glucose concentrations were (A) 6.3 (SEM 0.13) mmol/l (113.5 (SEM 2.3) mg/100 ml), (B) 2.9 (0.05) mmol/l (52.3 (0.9) mg/100 ml), and (C) 1.8 (0.03) mmol/l (32.4 (0.05) mg/100 ml), all measured during intravenous insulin infusion, and (D) 6.1 (0.13) mmol/l (109.9 (2.3) mg/100 ml), measured after intravenous glucose. The total neuropsychological test score decreased between periods A and B, A and C, and B and C, whereas improvement occurred between periods C and D (all p less than 0.02). These results were not due to changes in individual subjects alone but were consistent for the whole group. During hypoglycaemia there were changes in the patients' estimates of elapsed time, which were underestimated at period C as compared with the estimates at periods A, B, and D (all p less than 0.05). None of the 16 patients noticed symptoms of hypoglycaemia at period A or B, 12 reported symptoms at C, and one at D. Patients with type I diabetes may show a deterioration in neuropsychological skills during periods of asymptomatic subnormal or hypoglycaemic blood glucose concentrations.

As part of the first phase of a prospective longitudinal study on alcoholism, a battery of neuropsychological tests covering general intelligence, memory, attention, field-dependence, categorizing ability, and organizing and planning, was administered to 204 18-19-year-old males. Of these, 134 subjects are the sons of alcoholic fathers and are thereby themselves at high risk for becoming alcoholic. The remaining 70 subjects comprise a control group matched for several social and familial variables. The high risk group was found to have a relatively poorer vocabulary and to perform worse on tests of categorizing ability and organization and planning. All of these findings concur with other results from this study. The anticipated future alcoholics from among the high risk subjects may prove to be those who differed most on these tests.

This psychological study of the personalities of XYY- and XXY-men is part of a multidisciplinary investigation of non-institutionalized males with sex chromosome aberrations. Past and present views on these conditions have presented contradictory statements reflecting the enthusiasm with which abnormalities have been sought and recorded in studies of newly discovered conditions - not always with due respect to the validity of the methods applied. Methodological flaws include sampling bias, generalizations unacceptably made on single cases, lack of control groups, lack of a blind evaluation procedure and finally lack of sufficient broad-spectred data. Thus an impetus to reassessment of the sex aneuploid groups presents itself. Though four hypotheses have been set forth, it has not necessarily been in search of one universally appropriate theory. In matters as complicated as these concerning interrelations of biological, psychological and social factors, it does not enhance scientific thinking to try to make straight-line cause-and-effect connections; it is important to attack the question from different perspectives, and one theory does not make another redundant. This procedure has not elicited a cacophony of ideas from so many diverse sources, that it is difficult to distinguish the nature of the issues, which are under discussion. On the contrary, in the attempt to examine the four hypotheses a picture has emerged: This does not show any inconsistencies or controversies regardless of the perspective from which it is seen - thus manifesting the force of inner coherence. The first hypothesis deals with the question whether or not distinctive XYY- and XXY-syndromes of psychological features exist. The comparisons of the total amount of data stemming from the XYY-men and the XXY-men lead to the statement, that the two groups are more alike than different. Both groups show a slight general deficit in global intelligence, but a wide spectrum of IQ scores is possible in both conditions. There is no evidence of different cognitive styles. Regarding personality both sex aneuploid groups seem to have more than less characteristics in common. There is a slight difference concerning the defensive pattern; the XYY's seem more rigid in their thinking, the XXY's being more indecisive. The latter group tends to be more submissive and dependent than the former, they are inclined to show less aggression against others, and criminal acts committed by XXY's point to be less impulsive than in the case of XYY's. The diversities manifesting themselves belong mainly to the sexual domain: the gender role and the sexual behaviour.(ABSTRACT TRUNCATED AT 400 WORDS)

This double-blind, controlled study of XYY and XXY men found in a birth cohort of 4,591 tall men born in Copenhagen assessed evidence of delinquent and aggressive behavior and explored the role of hormonal determinants in the behavioral and psychological differences noted among groups. Information from social records, a structured psychological interview, and projective tests did not support the notion that men with sex chromosome anomalies are particularly violent or aggressive. Hormonally, XYY men had significantly higher concentrations of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) than matched control groups. In contrast, XXY men had higher levels of LH, FSH, and prolactin, but low concentrations of testosterone. There was a significantly positive relation among all subjects as well as XY controls alone between plasma testosterone level and evidence of criminal convictions. A proportionate increase in testosterone levels was noted when subjects were divided into nondelinquents, delinquents without violent convictions, and delinquents with violent convictions. The relation between testosterone level and criminal behavior was not reflected in measures of aggression derived from the psychological interview and projective tests. There was no specific evidence that testosterone is a mediating factor in the criminal behavior of XYY men.

The year 1959 was outstanding in the history of behavior genetics. A considerable number of observations on chromosome abnormalities in various conditions was presented. However, few issues in behavior genetics have received so much public and scientific attention as the question of the role of an extra Y-chromosome in human aggression. Several surveys conducted in the sixties found an elevated frequency of XYY men in institutions and in delinquents. These observations contributed to the hypothesis that the extra Y-chromosome is associated with greater aggressive and violent behavior. The reporting of the lurid crimes of a few men with an extra Y-chromosome on the front pages of newspapers around the world gave this issue of aggressionXYY linkage a meteoric rise and the interest has been sustained. The serious moral and legal implications of such a linkage served to attract the interest of social scientists and legal groups to the XYY condition. The first studies undertaken to search for the XYY men were characterized by attempts to identify XYY individuals in various specific subpopulations. Unfortunately, the lack of proper sampling techniques did not lead to the necessary caution with regard to the generalization of the findings. Mental hospitals, mental-penal institutions and prisons were selected for screening, and not surprisingly the conclusions of the studies were that an extra Ychromosome predisposes the individual to aggressive and antisocial behavior and is associated with mental retardation. Despite later refinement of methodology causing extensive modification of the characterization of the XYY individual, the nonsubstantiated generalization adhered to this genotype and captured the attention of the press.

In 14 patients with encephalopathy due to cirrhosis of the liver levels of consciousness were assessed by clinical ratings and continuous reaction time measurements. The observations were compared with similar measurements made in patients with chronic brain syndrome, patients sedated with diazepam, and hospitalized controls. Patients with hepatic encephalopathy were characterized by having slower reaction times than patients from the other groups. Furthermore, the performance of several liver patients was decreasing during the test. This phenomenon was not seen in the other groups. The continuous reaction times in the liver patients were correlated with the clinical ratings, but the reaction times appeared to be more sensitive, since on several occasions this test became abnormal before the clinical rating. Patients dying within 3 months after the test had more abnormal reaction times than patients surviving this period, indicating a relation between this test and the severity of the liver disease.

Continuous reaction time performance was measured in groups of normal controls, psychiatric controls and patients treated with lithium.