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WERNER'S SYNDROME: CHROMOSOMES, GENES, AND THE AGEING PROCESS
160 loss of the frequencies above 4000 hertz was noted. Ophthalmological examination revealed chalcosis of the fundus and a greenish pigment deposition in the cornea of both eyes (possibly copper deposition). The onset of the renal and ear changes accord with the clinical picture in his three maternal uncles; but debility is not so far apparent in this boy. Inheritance, sex, age of onset, type of renal and auditory disorder, and (in 2 out of 4 cases studied) ophthalmic complications (which may be unrelated to the disorder) led us to believe that this family suffers from the disease described by Hurst and Alport. The debility (not usually associated with this syndrome) and the dwarfism (in 1 case) have not, as far as we know, been reported before. More extensive elsewhere.
investigation is under
Medizinische Universitäts Poliklinik, Basle.
way and will be
reported
ULRICH C. DUBACH OTTO R. GSELL.
THE PADDED ROOM
SIR,-Iqualified for mental nursing at a hospital where had no padded room on the male side, but managed
we
well without. Later I was a staff nurse at a big London institution, where I was told by the nurses (a) that " pads " were essential and (b) that they must be. kept fully occupied. Since then, as a social worker, I have been associated with three other hospitals, in one of which the padded rooms on the male side have long been used as a store, but in the other two they are still used for
quite
patients. I have yet to see a " pad " used as a necessary restraint: instead they are used to make a patient behave, either by putting him in this form of seclusion or by threatening to do so. As I have been taught that most forms of mental disease are exacerbated by fear, I cannot believe that this I
is
good practice. MENTAL NURSE.
DEHYDROGENASE ISOENZYMES
SIR,-In a preliminary communication1 later and Skillen have suggested that starch-gel electrophoresis offers a simple method of detecting lactic dehydrogenase isozymes in serum. In contrast to their experience, I have found the starch-gel method to be slow and cumbersome, and I have shown2 that it yields no more information than a simplified version3 of the agar electrophoresis method of Wieme.4 When maximum sensitivity is not required, the isozymes may be stained in situ in the agar by the tetrazolium method of van der Helm5 to produce a permanent " isozymogram " which can also be projected as a lantern-slide. Visual inspection will readily
distinguish between the serum-lactic-dehydrogenase-isozyme patterns associated with myocardial and heptocellular damage.3 However, the more subtle differences between the isozymo6 grams of tissues such as liver and muscle 7 necessitate a In for differentiation. our experience, their method quantitative direct optical scanning of the developing agar isozymogram 4 or scanning after tetrazolium staining 5 are at present the only quantitative methods feasible in a clinical biochemistry
laboratory. Department of Biochemistry, St. Boniface General Hospital, and Department of Physiology, Faculty of Medicine, University of Manitoba, Winnipeg, Canada. C.
Latner,
2. 3. 4. 5. 6. 7.
Blanchaer, M. C. J. Pure appl. Chem. 1961, 3, 403. Blanchaer, M. C. Clin. chim. acta, 1961, 6, 272. Wieme, R. J. ibid. 1959, 4, 46. van der Helm, H. J. Lancet, 1961, ii, 108. Wroblewski, F., Ross, C., Gregory, K. New Engl. J. Med. 1960, 263, 531. Vesell, E. S., Bearn, A. G. J. clin. Invest. 1961, 40, 586.
L., Skillen,
A. W.
M. C. BLANCHAER.
1.
Lancet, 1961, ii,
1286.
WERNER’S SYNDROME: CHROMOSOMES, GENES, AND THE AGEING PROCESS SIR,-Dr. Comfort recently suggested1 that a study of chromosomes in Werner’s syndrome (premature senility of the adult) might be of interest. During the past year we have been investigating two sisters of Japanese descent with this disease and have been able to assemble a total of 106 cases from the world literature. The syndrome manifests itself by early greying, some hair loss, cataracts, hyperkeratinisation, and scleroderma-like skin changes in the lower extremities followed by chronic ulceration. Age of onset ranges between 20 and 40. Males and females are equally affected. Patients have a pinched facies, a high squeaky voice, and a characteristic body build with tapered extremities, and they are usually short in stature. Diabetes, atherosclerosis, and an increased incidence of tumours are often other features. The disease is of much interest because elucidation of the underlying defect may shed light on the mechanism of the normal ageing process, which seems to be accelerated in these
patients. Data from 72 families indicate
a
minimum incidence of con-
sanguinity of 21 % and a maximum incidence of 44% among parents of patients with Werner’s syndrome. The true value presumably lies between these figures. This finding strongly suggests recessive inheritance of a very rare gene. Segregation analysis of 47 sibships by various statistical techniques and using different criteria for age of onset indicates a range of 17-34% affected. Considering that most of the data were collected from the literature, such a range is sufficiently close to the 25 % expected and confirms recessive inheritance. Early greying and a higher than expected incidence of cataracts, atherosclerosis, and diabetes was noted among relatives of patients. It seems, therefore, that heterozygotes for this gene may have mild or abortive manifestations. The commonest of these signs was early greying. Current genetic theory suggests that a single biochemical error such as defective enzyme activity will explain the manifold symptomatology of a syndrome inherited by a singlegene mechanism. Search for this abnormality would be highly rewarding since normal function of the specific metabolic sequence affected in Werner’s syndrome must be of key importance in preventing the cellular alterations characterising the ageing process. This line of reasoning suggests that the basic defect in Werner’s syndrome affects a substance-an "antiageing factor "-normally required in impeding changes associated with ageing. The normal ageing process is commonly held to be under the control of many different genes. The existence of Werner’s syndrome suggests that among these at least one major gene complex with strong " anti-ageing " action is involved. The formal genetic findings in Werner’s syndrome could also be interpreted as the result of the action of several unrelated very rare gene mutations, each being able to cause Werner’s syndrome in the homozygous state. Although genetic heterogeneity is not uncommon, it is considered unlikely that many different mutations affecting unrelated biochemical steps could lead to this rather uncharacteristic syndrome. If heterogeneity exists, different mutations are more likely to affect the function of a specific metabolic sequence. Searching for the biochemical mechanism at fault and following suggestions made by earlier investigators, we have studied adrenal function in one of our patients. Various adrenal-function tests, including half-life of cortisol and 11desoxycortisol, as well as response to corticotrophin (A.C.T.H.) stimulation tests and to su-4885, all revealed normal values. It is, therefore, likely that the basic defect does not affect adrenal metabolism. Studies of other biochemical reactions are in progress. 1. 2.
Comfort, A. Lancet, 1961, ii, 1152. Waxman, S. H., Kelley, V. C., Motulsky, A. G. Clin. Res. 1961, 9, 102.
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.
investigation is under
Medizinische Universitäts Poliklinik, Basle.
way and will be
reported
ULRICH C. DUBACH OTTO R. GSELL.
THE PADDED ROOM
SIR,-Iqualified for mental nursing at a hospital where had no padded room on the male side, but managed
we
well without. Later I was a staff nurse at a big London institution, where I was told by the nurses (a) that " pads " were essential and (b) that they must be. kept fully occupied. Since then, as a social worker, I have been associated with three other hospitals, in one of which the padded rooms on the male side have long been used as a store, but in the other two they are still used for
quite
patients. I have yet to see a " pad " used as a necessary restraint: instead they are used to make a patient behave, either by putting him in this form of seclusion or by threatening to do so. As I have been taught that most forms of mental disease are exacerbated by fear, I cannot believe that this I
is
good practice. MENTAL NURSE.
DEHYDROGENASE ISOENZYMES
SIR,-In a preliminary communication1 later and Skillen have suggested that starch-gel electrophoresis offers a simple method of detecting lactic dehydrogenase isozymes in serum. In contrast to their experience, I have found the starch-gel method to be slow and cumbersome, and I have shown2 that it yields no more information than a simplified version3 of the agar electrophoresis method of Wieme.4 When maximum sensitivity is not required, the isozymes may be stained in situ in the agar by the tetrazolium method of van der Helm5 to produce a permanent " isozymogram " which can also be projected as a lantern-slide. Visual inspection will readily
distinguish between the serum-lactic-dehydrogenase-isozyme patterns associated with myocardial and heptocellular damage.3 However, the more subtle differences between the isozymo6 grams of tissues such as liver and muscle 7 necessitate a In for differentiation. our experience, their method quantitative direct optical scanning of the developing agar isozymogram 4 or scanning after tetrazolium staining 5 are at present the only quantitative methods feasible in a clinical biochemistry
laboratory. Department of Biochemistry, St. Boniface General Hospital, and Department of Physiology, Faculty of Medicine, University of Manitoba, Winnipeg, Canada. C.
Latner,
2. 3. 4. 5. 6. 7.
Blanchaer, M. C. J. Pure appl. Chem. 1961, 3, 403. Blanchaer, M. C. Clin. chim. acta, 1961, 6, 272. Wieme, R. J. ibid. 1959, 4, 46. van der Helm, H. J. Lancet, 1961, ii, 108. Wroblewski, F., Ross, C., Gregory, K. New Engl. J. Med. 1960, 263, 531. Vesell, E. S., Bearn, A. G. J. clin. Invest. 1961, 40, 586.
L., Skillen,
A. W.
M. C. BLANCHAER.
1.
Lancet, 1961, ii,
1286.
WERNER’S SYNDROME: CHROMOSOMES, GENES, AND THE AGEING PROCESS SIR,-Dr. Comfort recently suggested1 that a study of chromosomes in Werner’s syndrome (premature senility of the adult) might be of interest. During the past year we have been investigating two sisters of Japanese descent with this disease and have been able to assemble a total of 106 cases from the world literature. The syndrome manifests itself by early greying, some hair loss, cataracts, hyperkeratinisation, and scleroderma-like skin changes in the lower extremities followed by chronic ulceration. Age of onset ranges between 20 and 40. Males and females are equally affected. Patients have a pinched facies, a high squeaky voice, and a characteristic body build with tapered extremities, and they are usually short in stature. Diabetes, atherosclerosis, and an increased incidence of tumours are often other features. The disease is of much interest because elucidation of the underlying defect may shed light on the mechanism of the normal ageing process, which seems to be accelerated in these
patients. Data from 72 families indicate
a
minimum incidence of con-
sanguinity of 21 % and a maximum incidence of 44% among parents of patients with Werner’s syndrome. The true value presumably lies between these figures. This finding strongly suggests recessive inheritance of a very rare gene. Segregation analysis of 47 sibships by various statistical techniques and using different criteria for age of onset indicates a range of 17-34% affected. Considering that most of the data were collected from the literature, such a range is sufficiently close to the 25 % expected and confirms recessive inheritance. Early greying and a higher than expected incidence of cataracts, atherosclerosis, and diabetes was noted among relatives of patients. It seems, therefore, that heterozygotes for this gene may have mild or abortive manifestations. The commonest of these signs was early greying. Current genetic theory suggests that a single biochemical error such as defective enzyme activity will explain the manifold symptomatology of a syndrome inherited by a singlegene mechanism. Search for this abnormality would be highly rewarding since normal function of the specific metabolic sequence affected in Werner’s syndrome must be of key importance in preventing the cellular alterations characterising the ageing process. This line of reasoning suggests that the basic defect in Werner’s syndrome affects a substance-an "antiageing factor "-normally required in impeding changes associated with ageing. The normal ageing process is commonly held to be under the control of many different genes. The existence of Werner’s syndrome suggests that among these at least one major gene complex with strong " anti-ageing " action is involved. The formal genetic findings in Werner’s syndrome could also be interpreted as the result of the action of several unrelated very rare gene mutations, each being able to cause Werner’s syndrome in the homozygous state. Although genetic heterogeneity is not uncommon, it is considered unlikely that many different mutations affecting unrelated biochemical steps could lead to this rather uncharacteristic syndrome. If heterogeneity exists, different mutations are more likely to affect the function of a specific metabolic sequence. Searching for the biochemical mechanism at fault and following suggestions made by earlier investigators, we have studied adrenal function in one of our patients. Various adrenal-function tests, including half-life of cortisol and 11desoxycortisol, as well as response to corticotrophin (A.C.T.H.) stimulation tests and to su-4885, all revealed normal values. It is, therefore, likely that the basic defect does not affect adrenal metabolism. Studies of other biochemical reactions are in progress. 1. 2.
Comfort, A. Lancet, 1961, ii, 1152. Waxman, S. H., Kelley, V. C., Motulsky, A. G. Clin. Res. 1961, 9, 102.
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.