Search

Pupils from special school classes affected by supernumerary X-chromosomes (eight girls and eighteen boys) were subjected to a follow-up study over a period of ten years. The risks of social behaviour disturbances, criminality and alcohol abuse were studied, together with that of mental disorder. In the case of the girls no statistically significant differences were found. For the boys, the only difference of statistical significance was that the Klinefelter boys showed a lower frequency of social behaviour disturbances that their controls.

Summary The report concerns a family “with autosomally inherited diabetes insipidus of the pituitary form. A detailed description is given of a boy who was hospitalized for long periods during his first three years and then showed the dehydration, fever, vomiting, constipation and retarded development hitherto only observed in the nephrogenic form of diabetes insipidus. The child, who is now 14 years old, has an I.Q. of 58 according to Terman-Merrill. One of his father's sisters, who also has diabetes insipidus, is severely mentally retarded. In view of the fact that mental retardation has now been observed in two genetically different forms of diabetes insipidus, the authors reject the hypothesis of it being the effect of a pleiotropic gene. The authors stress how important it is to include a copious amount of fluid in the diet of children who have or might have diabetes insipidus of any form. Description d'un cas de diabete insipide genetique du type hypophysaire presentant l'aspect d'un diabete insipide du type renal. Cet article concerne une famille ou l'on rencontre des cas de diabete insipide hereditaire du type hypophygaire chez des membres des deux sexes. Les auteurs decrivent en detail le cas d'un garcon qui avait ete hospitalise durant de longues periodes au eours des trois premieres annees de son existence et se mit alors a presenter les phenomenes de deshydratation, fievre, vomissements, constipation et arrieration que l'on n'avait jusqu'alors observes que dans la forme renale du diabete insipide. Cet enfant, qui est maintenant âge de 14 ans, presente un quotient intellectuel de 58 selon la table de Terman-Merrill. Une des soeurs de son pere. qui est egalement atteinte de diabete insipide, souffre d'arrieration mentale severe. Puisque l'arrieration mentale a desormais ete observee dans deux formes genetiquement differentes du diabete insipide, les auteurs rejettent l'hypothese d'apres laquelle cette maladie serait due a l'intervention d'un gene pleiotrope. Les auteurs attirent l'attention sur l'iniportance de l'abondance des liquides dans le regime des enfants atteints ou susceptibles d'etre atteints d'une forme queleonque du diabete insipide. Ein Fall von genetischem Diabetes insipidus von hypophysarem Typus mit scheinbar nephrogenen Symptomen. Der Bericht betrifft eine Familie mit autosomatisch vererbtem Diabetes insipidus von hypophysarem Typus. Eine eingehende Beschreibung ernes Jungen wird dargeboten, welcher wahrend der ersten drei Lebensjahre im Hospital behandelt wurde und die Symptome von Wasserverlust, Fieber, Erbrechen, Verstopfung und Entwicklungshemmung aufwies, wie sie bisher nur in der nephrogenen Form des Diabetes insipidus beobachtet worden waren. Bei dem gegenwartig 14 Jahre alten Kinde betragt der Intelligenzquotient nach Terman-Merrill 58. Eine Schwester seines Vaters, auch mit Diabetes insipidus behaftet, ist geistig sehr stark zuruckgeblieben. Im Hinblick auf die Tatsache, dass geistige Hemmung in zwei genetisch verschiedenartigen Formen des Diabetes insipidus beobachtet worden ist, lehnen die Verfasser die Hypothese, dass er von einem pleiotropischen Gen bewirkt werde, ab. Die Verfasser betonen mit Nachdruck, wie wichtig es sei, reichliche Flussigkeitsmengen in der Diat von Kindern mit ausgesprochenem oder vermutetem Diabetes insipidus, einzuschliessen. Un caso de diabetes insipida genetica del tipo pituitario simulando tipo nefrogeno. En esta relacion se expone el caso de una familia presentando diabetes insipida autosoma hereditaria en forma pituitaria. Se describe detalladamente el caso de un nino hospitalizado por largos espacios de tiempo durante sus tres primeros anos de edad y que luego manifesto la deshidratacion, fiebre, los vomitos, estrenimiento y desarrollo atrasado, observados hasta entonces en la forma nefrogena de la diabetes insipida. El nino, que cumple en la actualidad 14 anos de edad, tiene un I.Q. de 58, de acuerdo con Terman-Merrill. Una de las hermanas de su padre, que tambien padece diabetes insipida, presenta un severo atraso mental. En vista del hecho de que ahora el atraso mental ha sido observado en dos formas geneticas distintas de diabetes insipida, los autores refutan la hipotesis de que pudiera tratarse de los efectos de un gen pleotropico. Los autores subrayan insistentemente la importancia de incluir una cantidad copiosa de liquido en la dieta de los ninos que manifiesten, o puedan manifestar, cualquier forma de diabetes insipida.

An investigation material consisting of 120 persons who were born after refusal of an application for therapeutic abortion, with the same number of controls, has previously been followed up by the writers to the age of 21 years. This follow-up study has now been extended to completion of the 35th year. It is found that in social-psychiatric respects the index cases as a group are still somewhat worse situated than the control cases. However, the differences have to a certain extent levelled out and during the later part of the observation period no statistically significant differences can be demonstrated for any single variable.This second follow-up study of 120 Swedish patients who were born between 1939-42 after refusal of therapeutic abortions extends the study to their 35th year. Individual information on economic support, criminal record, psychiatric care, health, and marriage/divorce was obtained from local social service authorities. Comparison was made with a 2nd control group. The results of the extended observation reveals a decrease in the differences between the 2 groups although the test group continues to show more frequent records of social and psychiatric difficulties. Over the extended period the differences have leveled out and no statistically significant differences can be demonstrated for any single variable.

In the mid-1960.s, reports came from Scotland and England of a high frequency of gonosomal aberrations among male patients in maximum security hospitals (Jacobs et al., 1965; Casey et al., 1966). This led to a lively discussion. If these observations could be generalized so as to apply also to similar institutions in other countries, the question would be whether gonosomal aneuploidy had any bearing on the development of criminality and psychic diseases? In particular, the significance of a double Y condition as a predisposing factor was called in question. Unfortunately, from the outset the discussion became too categorical and oversimplified. When in subsequent studies socially well-adjusted individuals of normal intelligence were found, it was doubted whether aneuploidy had any importance at all. In a survey as recent as 1972, for example, Owen questions whether there is any connection at all between excess Y-chromosomes and behaviour disorders and mental diseases. Hook (1973), on the contrary, in a somewhat more detailed compilation, shows that there is a clear connection between the occurrence of double Y-chromosomes and individuals whom he defines as ‘mental-penal’. A common feature in all the literature, however, is that almost all writers insist on the importance of more research in this field.

120 children born in 1939-1942 after their mothers had applied for therapeutic abortion on psychiatric grounds and had been refused were compared with an appropriate control group of the same size. Many more unwanted than control children had not had the advantage of a secure family life during childhood. There was a statistically significant difference (p

W e are interested to read Cameron and Tichenor's analysis of our paper (which is now 10 yr. old). With respect to the choice of control material, we made the simp!est possible sampling from the birth register and thereafter studied the outcome from various points of view. Another method would have been to attempt matching of the control cases, factor for factor. However, it seemed co us that such a procedure would in practice have been almost impossible; moreover, it would to some extent have rendered the study pointless. If one presses such a requirement for analogy of situation in pregnant women far, it becomes hardly reasonable that the one group seeks abortion and the other not. It was therefore obvious to us that the two groups would differ socially and also in respect to mental health. In the first paragraph on page 75 it would have been better to write that in this very limited material the differences between social Groups I and I1 on the one hand and Group 111 on the other did not reach statistical significance. However, we consider that Cameron and Tichenor do not pay sufficient attention to the comparisons we made between the pairs which were matched for social group. On page 82 we expressly say that among 77 pairs concordant for social group there were 34 cases denied abortion (44.2%) free from sociopsychiatric disability as against 54 control cases (70.1 % ) . This difference is significant (0.005 > p > 0.001). W e make several such analyses in which different individual factors are separately controlled. W e fully agree with Cameron and Tichenor that an unwanted pregnancy is not synonymous with an unwanted child. The term "unwanted child" has become a kind of technical term for a child born after refusal of an application for abortion, but this is unfortunate. The principal conclusion to be drawn from our study is that women who were at that time seeking abortion, even in cases where the indications were considered much too weak to justify assent to the application, were to some extent a disadvantaged group, both socially and in respect to mental health. Cameron and Tichenor's analysis is interesting but as far as we can see it does not conflict with our view.

A study was made of 118 institutionalized mentally handicapped men with behaviour disorders in order to screen the occurrence of double Y-chromosomes. The screening was based on identifying the extra Y-chromosomes in the interphase nuclei by fluorescence. Our intention was to test the sentisivity of this method in that respect. Altogether, we found 8 cases with cells having more than one brightly fluorescing area, and two of them proved by ordinary blood karyotyping to have double Y-chromosomes. It is known that other areas than those in the Y-chromosome may fluoresce. Thus by using interphase nuclei to determine the frequency of double Y-chromosomes by fluorescence, a number of falsely positive results is given. Nevertheless, we have found the procedure extremely valuable for screening purposes.

Many of the links in the chain of circumstances leading to anorexia nervosa are still not clear. Ever since Sir William Gull in 1868 first described and in, 874 named the condition, investigators have put most of the blame for it on psychological circumstances, such as an adverse relationship between mother and daughter. Tolstrup (1967), after reviewing the observations of a long list of authors, concluded that no physical explanation of note was forth-coming. Another of the many adherents of the psychogenetic school is Thomä (1961).

Summary The authors describe eight cases of nephrogenic diabetes insipidus in children, six of them studied at a hospital. Five of the cases came from four generations of a family showing a pattern typical of sex-linked inheritance, two are brothers from another family, and the eighth is a sporadic case. These children usually showed signs of severe dehydration during the first three years of life, suffering from fever, malnutrition, and retarded physical and mental development. In two of the unequivocal cases the boys died in early childhood. There are also three boys in the large family who died in infancy from an obscure cause, and who were so situated in the family tree that there was a 50 per cent risk of their getting the disorder. The authors emphasize the importance of an early diagnosis of this sometimes very puzzling condition, because it seems to be necessary for a favorable outcome that the child be given plenty of fluid. It is suggested that a sufficient supply of fluid in the beginning may prevent the mental deficiency often present in these cases, for the deficiency is thought to be due to dehydration of the brain. The pediatrician should also impress upon the persons in charge of the boy that his incessant drinking is not a bad habit but something he must do in order to keep well. Diabete Insipide d'origine renale, chez les enfants. Huit cas de diabete insipide d'origine renale chez des enfants sont rapportes. Cinq de ces cas appartenaient a 4 generations d'une meme famille dans laquelle le diabete insipide est transmis par la voie gynecophorique; deux etaient des freres dans une autre famille et le huitieme etait un cas sporadique. Ces enfants presentaient habituellement des signes de deshydratation severe au cours des trois premieres annees avec fievre, malnutrition et retard du developpement physique et mental. Dans 2 des cas certains les garcons moururent dans la premiere enfance. Dans la famille atteinte, il y eut avissi trois garcons qui moururent enfants d'une cause obscure et qui se trouvaient a une place de l'arbre genealogique telle qu'ils avaient 50 % de risques d'etre atteints de la maladie. Les auteurs insistent sur l'importance d'un diagnostic precoce de cette affection complexe, car il semble necessaire que l'enfant recoive beaucoup de l'eau pour evoluer favorablement. A leur avis, un apport suffisant de liquide des le debut peut empecher la retardation mental qui se developpe souvent dans ces cas; ils pensent en effet que ce deficit peut etre dua une deshydratation cerebrale. Le pediâtre pourrait ainsi avertir les personnes qui s'occupent de l'enfant que cet apparent exces de boisson est necessaire a sa sante. Der nephrogene Diabetes insipidus bei Kindern. Acht Falle von nephrogenem Diabetes insipidus bei Kindern sind beschrieben. Funf der Falle stammen von vier Generationen einer Familie, welche ein typisches Beispiel von geschlechtsgebundener Erblichkeit zeigt, zwei Falle sind Bruder einer anderen Familie und der achte ist ein sporadischer Fall. Diese Kinder zeigen gewohnlich wahrend der ersten drei Lebensjahre Symptome einer schweren Dehydration - Fieber, ungenugende Nutrition und verspatete physische und psyehische Entwicklung. In zwei der unzweifelhaften Falle starb der Knabe in fruhem Kindesalter. Ebenfalls starben drei Knaben der grossen Familie im Kindesalter aus unklaren Grunden. Diese waren so im Stammbaum placiert, dass sie ein 50%iges Risiko des Krankheitsaus-bruches liefen. Die Yerff. betonen die Wichtigkeit der Fruhdiagnose bei diesem manch-mal ratselhaften Verhaltnis, da es fur eine gunstige Entwicklung notwendig erscheint, dass das Kind reichlich Flussigkeit erhalt. Ihrer Meinung nach kann eine genugende Zufuhr von Flussigkeit zu Beginn der Krankheit dem psychischen Defizit, das oft in diesen Fallen vorkommt, vorbeugen, da sie glauben das Defizit einer Gehirn-Dehy-dration zuschreiben zu durfen. Der Padiater muss ebenfalls die Pflegeperson des Kindes darauf aufmerksam machen, dass sein unaufhorliches Trinken keine schlechte Angewohnheit ist, sondern eine Reaktion des Kindes darstellt, das Wohlbefinden auf-rechtzuerhalten. Diabetes insipida nefrogenica en ninos. Se describen 8 casos de diabetes insipida nefrogenica en ninos. Cinco de ellos, provenientes de cuatro generaciones de una misma familia, muestran una clara herencia ginecoforica, otros dos son hermanos de otra familia y el octavo es un caso esporadico. Estos ninos mostraron, durante los primeros anos de la vida, signos de seria deshidratacion fiebre, desnutricion y retraso fisico y mental. Dos casos inequivocos fallecieron en la primera infancia. En esta misma familia fallecieron ademas de causa indeterminada 3 ninos situados de tal modo en el arbol genealogico que su riesgo de padecer la affeccion era del 50%. Los autores destacan la importancia de un diagnostico precoz ya que para una evolucion favorable de esta afeccion es necesaria la administracion de una gra cantidad de liquidos. Sugieren ademas que un adecuado aporte fluido desde el comienzo pueda prevenir el deficit mental, que a menudo presentan estos pacientes, y que podria deberse a los efectos de la deshidratacion sobre el sistema nervioso central. El pediatra debe instruir a las personas a cargo del nino en sentido de no combatir su continua necesidad de beber, lo cual lejos de ser un mal habito es una necesidad.

The authors examined the karyotype of 89 out of the 102 men 180 cm (5′11″) tall or more among the 459 male inmates of four Swedish institutions for alcoholics. All 89 had a normal chromosome constitution.

The authors examined the karyotypes of the men 183 cm (6 ft.) tall or more among the 320 male residents of two Swedish institutions for the long-term care of epilepsy. All 14 men meeting this criterion proved to have the normal chromosome constitution-46, XY.