MENTALLY HANDICAPPED CHILDREN: THE PARENTS' VIEW

161 Since the mutational defect in a recessive disease will usually be caused by submicroscopic chromosomal changes, cytologically detectable alterations are unlikely. Study of the chromosomes from peripheral blood of a patient with Werner’s syndrome revealed a chromosomal number of 46 with a perfectly normal chromosomal complement. Full details of the various investigations will be published elsewhere. Departments of Medicine and Genetics, University of Washington,

Seattle, Washington.

A. G. MOTULSKY A. SCHULTZ J. PRIEST.

CHROMOSOME COMPLEMENT IN A TRUE HERMAPHRODITE chromosome SiR,ŃThe complement has been recorded in a number of cases of true hermaphrodites. XX 1-5 XOjXY,67XX/XXX,8 and XX/XX+small fragment8 complements have been found in individual cases. The chromosome studies have usually been done after the diagnosis was established. We have recently studied a case of true hermaphroditism in which the diagnosis was made preoperatively on the basis of cytological studies demonstrating an apparently unique chromosomal mosaicism. A white child of 2 years 4 months had been seen at another hospital at 3 days of age because of an enlarged clitoris with a terminal dimple and a ventral chordae. The urethral opening was in a small vaginal vault. The buccal smear revealed a positive chromatin pattern and a vaginogram revealed a vagina, uterus, and two fallopian tubes. Radiography for bone age showed

epiphyseal centres consistent with the chronological Congenital adrenal hyperplasia was ruled out by normal serum-electrolytes, 24-hour urinary 17 ketosteroids of 0-72 and 0’75 mg., and undetectable pregnanetriol levels. The patient did quite well until 2 years of age when she was seen in our department in order to assess the possibility of surgical repair of the enlarged clitoris and a branchial-cleft sinus. She had been growing normally along the 25th percentile and had age.

had rubella and varicella. It was of extreme interest that the mother had received 12.5 mg. of stilbestrol twice daily from the 3rd to 4th month of pregnancy because of uterine bleeding. The mother was 27 and the father 26 at the time of this pregnancy. There are three normal brothers and no family history of intersex. She had a small pinpoint branchial-cleft sinus to the right of the midline at the level of the cricoid cartilage, a difference in iris colour, the right iris appearing brown and the left iris blue-grey, and a 2-5 cm. clitoris with a terminal dimple and a grooved ventral surface. There was some slight posterior fusion of the labia minora. Once again the buccal smear revealed a chromatin positive pattern. X-rays for bone age and an intravenous pyelogram were within normal limits. The serum-electrolytes were normal. The urinary 17-KS were 1.3 and 2’0 mg. per 24 hours, and the urinary pregnanetriols were 0’3 and 0-5 mg. per 24 hours. Chromosomal counts and karyotyping were carried out by the short-term method of Moorehead et al.The chromosome complement was 46 in 33 technically satisfactory cells and 47 in 1. Karyotyping of 13 cells revealed a normal female pattern in 7 cells (16 chromosomes in group 6-12, X, and 4 chromosomes in group 21-22, Y, Denver classification 10) 1.

Hungerford, D. A., Donnelley, A. J., Nowell, P. C., Beck, S. Amer. J. hum. Genet. 1959, 11, 215. Harnden, D. G., Armstrong, C. N. Brit. med. J. 1959, ii, 1287. de Assis, L. M., Epps, D. R., Bottura, C. Lancet, 1960, ii, 129. Sasaki, M., Makino, S. Texas Rep. Biol. Med. 1960, 18, 493. Gordon, R. R., O’Gorman, F. J. P., Dewhurst, C. J., Blank, C. E. Lancet, 1960, ii, 736. 6. Hirschorn, K., Decker, W. H., Cooper, H. L. New Engl. J. Med. 1960, 263, 1044. 7. Miller, O. J. Quoted by Rappoport, S., Kaplan, W. D. J. Pediat. 1961, 59, 415. 8. Ferguson-Smith, M. A., Johnston, A. W., Weinberg, A. N. Lancet, 1960, ii, 126. 9. Moorehead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A. Exp. cell Res. 1960, 20, 613. 2. 3. 4. 5.

10. A

Proposed Standard System of Nomenclature of Human Mitotic Chromosomes. Amer. J. hum. Genet. 1960, 12, 384.

while in the other 6 cells there was a normal male pattern (15 chromosomes in group 6-12, X, and 5 chromosomes in group 21-22, Y.) On the basis of these data an exploratory laparotomy was done. A normal uterus and fallopian tubes were found. The left looked like a normal ovary and this was confirmed histologically. The right gonad was grossly abnormal and proved histologically to be an ovatestes with seminiferous tubules and ovarian follicles. This gonad was removed. The patient’s true diagnosis could have been easily missed if the chromosome studies had not been done. Bongiovanni et al.ll have reported 4 cases in which there was masculinisa-’ tion of the foetus. They attributed this to oestrogen therapy during the gestational period. Only 1 case had a laparotomy at which normal ovaries were found. Chromosomal studies were not carried out in any of these cases.

gonad

‘

The association of a sexual abnormality with this chromosomal mosaic suggests that the mosaicism involves the sex chromosomes. One obvious interpretation is that this individual is an XX/XY mosaic; still another possibility is that she is an XX/Xx mosaic. On morphological grounds it does not seem possible to distinguish between these possibilities and consequently we are seeking other evidence. We are now trying to investigate the aetiològy of this chromosomal mosaic by studying the chromosomes in tissues from different parts of the body and by studying the red cells for evidence of red-blood-cell mosaicism. S. H. WAXMAN V. C. KELLEY Departments of Pediatrics, Medicine and Genetics, S. M. GARTLER University of Washington, B. BURT. Seattle. MENTALLY HANDICAPPED CHILDREN: THE PARENTS’ VIEW

SIR,-The problem of when to tell parents that their child is mentally handicapped has been discussed’ in your columns from the medical point of view, but little or nothing has been said about the parents’ views. Our society is in daily contact with parents of mentally handicapped children, and we have often heard a mother say, " Why did they not tell me sooner ? " We have yet to hear a parent say, " They told me too soon." We would, therefore, like to urge doctors to tell the parents as soon as

they

are

certain of their

diagnosis. If the

doctor delays, unqualified people may " burst " the news upon the parents with disastrous results. Other points which we should like to suggest to the doctor are: that both parents are present and thus avoid their each other for the defective child. Try to take some time to explain just what is wrong with the child, though you cannot tell the parents exactly how their child is going to turn out. Enlarge on the fact that no-one is to blame; try to dispel the guilt complex at the beginning. Give the parents a word of advice about the futility of a search for a " cure ", which will only cause additional heartbreak and needless wastage of money. Do not say "Just put your child in an Institution and forget about it ", nor " Take your child home and spoil it". A mentally handicapped child admittedly needs much love and much patience to rear, but it only aggravates the problem if a parent has, in addition, to cope with a spoiled child. Introduce the parents to the hospital almoner, for she can often put them in touch with others who have a handicapped child.

Make

sure

blaming

Seeing how others have coped with the problem and being able to ask advice is most beneficial, and a meeting with a happy, adjusted mentally handicapped child, who tan do much in his or her own way, will let dejected 11.

Bongiovanni,

A.

M., DiGeorge, A. M., Grumbach, M. M. J. clin.

Endocrin. 1959, 19, 1004.

162

rhythm developed. Twenty minutes after the onset of palpita-

parents see that there is still hope and a purpose in life. As parents of mentally handicapped children ourselves, we have come to realise this, and are deeply attached to our children, who have brought with them their own share of love and affection. T. A. FORTUNE

sense of neck constriction and headache started, the latter being notable for suddenness of onset and severity. There was no sweating, photophobia, or neck stiffness, and the blood-pressure was 190/120. The attack lasted three hours. At this stage it was recognised that the attacks might have been due to tranylcypromine, which was stopped; and she has been free of attacks since then. St. Bartholomew’s Hospital, A. ERIC DORMER. London, E.C.1.

tion, the

Chairman, Scottish Society for Mentally Handicapped Children.

Glasgow.

SIDE-EFFECTS OF TRANYLCYPROMINE SIR,—The following case is reported in order to reemphasise one of the unpleasant side-effects of tranylcy-

promine therapy, as already recorded by Dr. Clark Dr. Aldridge and Dr. Oakley2, and Dr. Bass.3 A woman of 48 with a depressive illness had been on tranylcypromine (’ Parnate ’) as an outpatient for seven weeks, initially at 20 mg. daily and increasing by 10 mg. at ten-day intervals up to 40 mg. After she had been on 40 mg. for three weeks, she had a sudden occipital headache which subsequently spread all over the head. She vomited several times, and became pale and collapsed. During the previous week she had had three attacks of similar but less severe pain which passed off fairlyrapidly. When she was seen by her general practitioner neck stiffness was present. Her blood-pressure was not recorded. She was admitted to Staincliffe General Hospital with the provisional diagnosis of subarachnoid hxmorrhage. On admission three hours later her blood-pressure was 155/100 nirn. Hg, and pulse-rate 64 per min., neck stiffness had passed off, and there were no abnormal neurological signs. A lumbar puncture then performed was normal. Tranylcypromine was stopped. The following morning her blood-pressure had fallen to 120/80, the pulse-rate was 80 per min. and the headache was less severe. She made an uneventful recovery. Staincliffe General Hospital, J. W. RAE. Dewsbury. Department of Psychiatry, The University of Leeds, BEATRICE P. HARRIMAN. Leeds,

2.

SiR,ŃThe following record of two attacks associated tranylcypromine may be of interest since they took place in a relative and were closely observed. with

A woman aged 30, who had been a nurse, was well apart from persistent back pain, believed to be due to a protruded intervertebral disc, for which she regularly took tab. codein. co. On Aug. 30, 1961, she began to take tranylcypromine (10 mg. t.d.s.) and on Sept. 4 she suddenly experienced a heavy pounding of the heart, whose rate however remained slow. This was associated with a sense of constriction in the throat and an intense feeling of fear. Within five minutes a violent occipital headache suddenly started, spreading over the vertex as far as the frontal region. Five minutes later the heart began to beat irregularly at approximately 100 per minute. During this tachycardia, which lasted about twenty-five minutes, she had a sense of pressure in the chest and felt faint whenever she tried to sit up. The irregular heart-beat slowly gave way to regular rhythm, but the headache and constrictive feeling in the neck persisted, gradually to die away after three hours. Following the attack she felt exhausted and her blood-pressure

(usually 130/80)

was

105/70

mm.

Hg.

The attack remained unexplained and she continued to take tranylcypromine. On about ten occasions, and without obvious precipitating factors, she felt a return of the heavy pounding of the heart, but each episode died away within a matter of minutes and the attack she feared did not develop. During these episodes the heart-rate was a little slower than normal and the rhythm regular, but the pulse suggested a raised blood-pressure though no measurement was made. On Oct. 31 she had a second major attack whose pattern was similar to the first except that no tachycardia or irregular 1. 2. 3.

Clark, J. A. Lancet, 1961, i, 618. Aldridge, M., Oakley, N. ibid. 1961, ii, 932. Bass, B. H. ibid. p. 1099.

TRACHEOTOMY AND EMPHYSEMA SiR,ŃIn reply to the letter by Dr. Bradley and his colleagues (Dec. 2), cases 11 and 15 we agree did not

have C02 retention, neither did ventilation.

they require artificial

We would like to point out that the development of C02 retention occurs comparatively late in emphysema, therefore a low pC02 does not invalidate the diagnosis. With regard to case 12, the pC02 was not taken whilst the patient was stuporous; and we regret that, with the condensation of material for publication, this was not made clear. The estimation of p02 we agree would have been of further help, but unfortunately the necessary facilities were not available. We are interested to see that Dr. Bradley and his colleagues support our suggestion that high O2 concentrations are sometimes necessary. Towards the end of the series we had thoughts similar to those of Dr. Hollins (Dec. 9), and in fact we now tend to undertake tracheotomies with a view to their being permanent. Dr. Addis (Dec. 9) urges the use of nikethamide. This was used in some of our cases, but only in case 12 was the result dramatic. Dr. Simpson’s (Dec. 23) remarks on an emphysema clinic we find most interesting, and as far as possible we try to work in our own chest clinics on the lines he has suggested; nevertheless, many patients are admitted direct to hospital as emergencies, and it is with cases such as these that we were concerned in our article. Repeat tracheotomies so far have only been suggested to 3 patients, all of whom agreed. Finally, we await with great interest the results of Dr. Baldry’s (Dec. 23) trial of ’Organadin’. Aintree

Hospital, Fazakerley, Liverpool,

9.

L. H. HARRIS J. HOUSTON.

FORCED DIURESIS IN TREATMENT OF SEVERE SALICYLATE POISONING

SIR,-Dr. Gordon Cumminghas drawn attention to the possible therapeutic usefulness of applying forced diuresis in the treatment of severe salicylate poisoning. In the Intoxication Centre of Copenhagen forced diuresis using urea as the diuretic agent has been used for two years in the treatment of severe barbiturate intoxications.2 With a 24-hour diuresis of 12 litres of alkaline urine the duration of coma is reduced to about one third in the average case. In a recent series of 31 consecutive cases there was only 1 fatality (a recurrence of cerebrovascular disease in a patient with recent apoplexy). Complications to the treatment were few and could readily be counteracted. With this rather favourable impression and with the general knowledge of the elimination pattern of salicylates in mind, we believe Dr. Cumming’s suggestion deserves attention. In Denmark severe salicylate poisoning is rare and we have not yet had occasion to apply diuresis in such a case. But we are at present trying this treatment in severe meprobamate poisoning. Active treatment does 1. 2.

Cumming, G. Medical Management of Acute Poisoning. London, 1961. Lancet, 1960, ii, 338.