Hans Forssman

One hundred and twenty children born after application for therapeutic abortion refused. Their mental health, social adjustment and educational level up to the age of 21.

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<.005) between the number of unwanted children who received public assistance and the control group. The unwanted were registered more often in psychiatric services for antisocial and criminal behavior slightly more often for drunken misconduct and received much less theoretical education than the control group. More of them were exempt from military service and of the girls more married early and had children earlier. Differences between the groups are often statistically significant and when not significant always point in the same direction: The unwanted children were in a worse situation than were the control children. The results of the study indicate that if a woman applies for legal abortion it will mean that the prospective child runs the risk of having to overcome greater social and mental handicaps than its peers if the abortion is refused. Legislation on therapeutic abortion should also consider the social risks to the expected child.

Nephrogenic Diabetes Insipidus in Children

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.

LITHIUM TREATMENT ON ATYPICAL INDICATION

As regards the duration of the observation times, our experience of lithium is in no way comparable with that of our Danish colleagues. To a certain extent, however, we have used the substance on indications other than those usually motivating this therapy, and it is with the experience gained in this connection that this preliminary report deals. T h e astonishingly good results we attained by applying the treatment to manic states led us perhaps into a certain ’lithiomania’, and we began to try out the drug on various severe pathological states that had proved resistant to other measures. Our criterion for considering a case to be treated on atypical indication is the following: the existing picture has not permitted of the diagnosis manic-depressive psychosis before the therapeutic experiment. In several cases a positive result of the lithium therapy has led us to suspect that this diagnosis had as a matter of fact been correct. We shall revert tc, the question of such a diagnosis ex juvantibus after the case histories. The number of cases treated on atypical indication amounts to 27, 15 women and 12 men. In 9 of these cases we observed no effect whatsoever. These formed a group of patients with very varying symptomatology and we shall not at this stage give the case histories. There was a phasic course in 4 of the cases. The group is of course interesting as comparative material, but it is as yet so small that we refrain for the time being from making comparisons. There remain 18 atypical cases in which what we considered a distinct effect was observable, sometimes modest, sometimes very striking. We give a brief account of the 1 8 cases, though in the first and last we go into somewhat greater detail as they are particularly illustrative.

Klinefelter's Syndrome and Mongolism in the Same Person

In January, 1959, Lejeune, Gauthier & Turpin demonstrated a small, supernumerary somatic chromosome in cultures of tissue from nine persons with mongolism. The same year Jacobs & Strong reported that the chromosomal sex constitution in Klinefelter’s syndrome was XXY. Hence, a chromosome count of 47 has been found in both these disorders. In April, 1959, a combination of the two disorders in the same person was described for the first time by Ford, Jones, Miller, Mittwoch, Penrose, Ridler & Shapiro. Study of the karyotype in this case revealed 48 chromosomes. Thus the patient had the extra somatic chromosome characteristic of mongolism a t the same time as he had the XXY sex constitution. He was sex-chromatin positive. As far as we can make out, no other case of this kind in which the karyotype was studied has been published. Stimulated by this report of Ford et al., we made tissue cultures and studied the karyotype in a male patient with mongolism who showed clear evidence of hypogonadism. Since no biopsy of testicular tissue or hormonal titration had been performed, the diagnosis of Klinefelter’s syndrome was not established before cytologic studies. Case Report *

IS HEREDITARY DIABETES INSIPIDUS OF NEPHROGENIC TYPE ASSOCIATED WITH MENTAL DEFICIENCY

Mental deficiency, as we all know, is a symptom of many different kinds of disorder. The same injurious agents that cause cerebral lesion and dementia in the adult cause mental deficiency or mild degrees of mental retardation in the child. This is especially true of infants who have not acquired many abilities. In one group the injurious agent is of environmental nature, or exogenic. In another it is of hereditary, or endogenic nature. It has been known for some time that there are a large number of different genes that can cause mental deficiency. Some of them have other effects in addition to defects in mental competency, and many of this category have been given thorough study, e.g., the one which also leads to the excretion of phenylpyruvic acid in the urine and the ones leading to the two forms of amaurotic idiocy. In other cases in which the hereditary disorder is not characterized by specific features of this type, many of the genetic conditions have not been satisfactorily worked out. There is reason to assume that mental deficiency, particularly of mild degree, is due to the operation of simple recessives and dominants, but we do not know how many there are of these genes and it is not possible to give an exact hereditary outlook for a separate case. Furthermore, in the separate case it is often difficult to distinguish between what is of environmental and what is of genetic origin. Our present knowledge concerning the hereditary background of mental deficiency can be likened to the beginning of a game of spillikins or jackstraws. There are some straws at the edge of the heap which are easy of access, but nearer the center of the problem there is such a confusion that the utmost patience is required to be able to remove a single straw. The only way to get any further is to expose

Continued follow-up study of 120 persons born after refusal of application for therapeutic abortion.

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.

A study of maternal age in Down's syndrome

It has long been noticed that children with Downs syndrome are often born of old parents. Jenkins (1933) and Penrose (1933) were first to demonstrate that maternal age and not paternal age was of aetiological importance. Later Penrose (1962) found paternal age, not maternal age, to be of importance in mongolism associated with chromosomal fusion of the 21 : 22 type. This group of mongols, however, constitute only a small percentage of all cases with Downs syndrome. Penrose was able to show already in 1951 that the mean maternal age was significantly lower in a series of patients when mongolism existed among relatives on the maternal side. No similar reduction of mean maternal age was found when paternal relatives were affected (Penrose, 1951, 1954). Graphic representation of maternal age in Downs syndrome seems in all surveys to give a bi-tangential curve or in some material even a bimodal curve. Haldane (1951) showed that this bi-tangential tendency is not due to an artifact as supposed by many observers. Evidently, this finding suggests that mongolism is made up of two separate groups in relation to maternal age. Penrose advanced the hypothesis that these two groups consisted of an age-dependent and an age-independent group. That this hypothesis is valid is shown by the fact that the distribution curves of familial cases and others all intersect at the same point (Penrose, 1964). If one has maternal age distributions in different subgroups composed of the same two classes as the total distribution, then, regardless of their proportions, graphic representation will show that their curves all intersect a t the same point. This is provided the distribution in the different subgroups has the same totals or is expressed as percentages. It is thus sound to divide cases of Downs syndrome into two classes by maternal age: one age-dependent class and one age-independent class. It is of interest to study the geographical variation in maternal age and only a very large and pooled material can provide enough data to test various hypotheses to explain the maternal age problem in Downs syndrome. The present study was undertaken to try to estimate the proportions of the age-independent and age-dependent group in a Swedish sample of patients with Downs syndrome.

Extra Y chromosomes and epilepsy

SummaryThe 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.

Extra Y chromosomes and alcoholism

SummaryThe 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.

A case of the pituitary type of genetic diabetes insipidus simulating the nephrogenic type.

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 fathers sisters, who also has diabetes insipidus, is severely mentally retarded.