J. Paediatr. Child Health (1992) 28, 383-386
Health problems and health checks in school-aged children with Down syndrome M. SELIKOWITZ Tumbatin Developmental Clinic, The Prince of Wales Children’s Hospital, Sydnev. New South Wales, Australia
Abstract A survey by parent questionnaire and interview was carried out to determine the frequency of health problems in 204 children with Down syndrome. Seventy-two children (35.3%) had a congenital heart defect. Refraction had been performed on 196 and 68 (34.6%) of these had a refractive error. A diagnosis of ‘glue ear’ had been made in 112 (54.9%) and in 12 (11%) of these permanent hearing loss was present. Significant ill-health over the previous 12 months consisted of cardiac failure (two children), more than three upper respiratory tract infections (24 children), bronchitis (eight children), pneumonia (two children) and asthma (seven children). A neck X-ray had been performed in 172 (84.3%) and had demonstrated the presence of atlanto-axial instability in 12 (7%) of these. One hundred and thirty-two (64.7%) of the children had been tested for hypothyroidism in the previous 18 months and this had been found in four (3%) of these children. The implications of these and other findings are discussed in relation to parental counselling and planning of routine health checks. Key words:
Down syndrome; health screening; school children.
Children with Down syndrome are prone to certain health disorders. It is important to collect morbidity data to detect any geographical differences and changes over time. It is also essential to assess whether these children are receiving appropriate health surveillance. Such knowledge is useful for planning medical care for children with the syndrome and for providing realistic expectations when counselling parents of newborns with Down syndrome. There have been recent surveys of the health problems of children with Down syndrome in Europe’ and the United States? but not in Australia. Those in the United Kingdom and United States did not assess the frequency of regular health checks in the children studied. This paper reports the results of a survey of 204 school-aged children with Down syndrome. The aims of the study were: (i)to determine the nature and frequency of health problems in the children; and (ii)to determine the frequency of routine medical tests being carried out on the children.
parents and the information obtained was supplemented by telephone or personal interviews. All information was obtained during the period 8 June-12 August 1991.
Subjects
The parents of 204 school-aged children with Down syndrome filled in the questionnaire. There was a response rate of 94.9% of the parents attending the conference. The children’s ages ranged from 4 years 7 months to 17 years 1 month with a mean age of 8 years 9 months (116 females and 88 males). All children lived in New South Wales or the Australian Capital Territory. One hundred and twelve (54.9%) lived in a metropolitan area. Five (2.5%) were still at preschool, 83 (40.7%) attended an ordinary class, 68 (33.3%) a special class and 48 (23.5%) a special school.
RESULTS METHODS Validation Procedure
The sample consisted of school-aged children with Down syndrome. Their parents were requested to take part in the survey when they attanded a conference on Down syndrome held in Sydney in June 1991. A questionnaire was completed by the
Correspondence: Dr M. Selikowitz, Tumbatin Developmental Clinic, The Prince of Wales Children’s Hospital, High Street, Randwick, NSW 2030, Australia. M. Selikowitz, MRCP, FRACP, Specialist Paediatrician and Director. Accepted for publication 21 October 1991.
To provide a check on the accuracy of parents responses, hospital records of 18 children, randomly chosen from those who had attended The Prince of Wales Children’s Hospital, Sydney, were consulted to validate information given by their parents. In all 18, the hospital records corroborated the information provided by the parents.
Heart defects
Sixteen children (7.8%) were known to have a cardiac murmur of undetermined significance, while a congenital heart defect
M. Selikowitz
384
had been diagnosed in 72 (35.3%)of the children. The frequency of the different types of heart defect is shown in Table 1. Of the children with heart defects, 56 (77.8%) had been successfully repaired, 12 (16.7%) were regarded as trivial and four (5.6%) were inoperable. Of those that had an inoperable defect, two were on medication for cardiac failure and two had asymptomatic pulmonary hypertension. An echocardiogram to exclude heart disease had been performed on 88 (43.1%) of those children regarded as having normal hearts and six (37.5%) of those with cardiac murmurs of undetermined significance.
Table 1 Types of heart defect n
%
24 17 8 9 5 8
33.3 23.6 11.1 12.5
Respiratory problems A continual runny nose (often worse in winter) was present in 36 (17.6Y0) of children. Twenty-four (11.8%) of the children had not had an upper respiratory tract infection in the previous 12 months. Of the children who had had an upper respiratory tract infection in the previous 12 months, 152 (74.5%) had less than two during that period, four (2%) had two or three, while 24 (11.8%) had more than three such infections. Lower respiratory tract infections in the previous 12 months included bronchitis in eight (3.9%) children and pneumonia in two (1%). Twenty-eight (13.7%) children had a history of asthma, but this had given rise to symptoms in the previous 12 months in only seven (3.4%) of these children.
Atlanto-axial instability Ventricular septal defect Complete atrioventricular septal defect Partial atrioventricular septal defect Patent ductus artertosus Tetralogy of Fallot Multiple defects Bicuspid valve
1
6.9
11.1 1.4
Neck X-rays had been performed in 172 (84.3%) of the children and atlanto-axial instability was present in 12 (7%) of these. In one child, fixation of the first two cervical vertebrae had been performed for symptomatic subluxation.
Hypothyroidism
Eye disorders Refraction had been performed on 196 (96%) of the children during the previous 3 years. Refractive errors were found in 68 (34.6%) of these children and all had been satisfactorily corrected with spectacles. Forty-four (22.4%) were hypermetropic and 24 (12.2%) were myopic. Isolated astigmatism was present in one (0.5%) and astigmatism associated with hypermetropia in two (1.0%). Strabismus had been present in 36 (17.6%) of the total group of children and had been successfully treated in all with surgical repair, patching and/or glasses. In two (1.0%) children, a cataract had been present and had been removed. A history of blocked tear ducts in infancy was reported in three children and an absent nasolacrimal duct had been found in one child.
In one hundred and thirty-two (64.7%) of the children, thyroid testing had been performed in the previous 18 months. Twelve (9.1%) of these had high thyroid-stimulating hormone levels, but normal T, and T, while four (3%) had hypothyroidism. In all those with hypothyroidism, the condition was subclinical at the time of diagnosis. All four children were on regular thyroxine. Forty-four (21.6%) children had not had thyroid testing for over 3 years, and in 36 (17.6%) children, thyroid testing had not been performed since birth.
Other health problems Leukaemia was present in two children (1.0%) and diabetes mellitus in one (0.5%). Hirschsprung disease had been present in three (1.5%) and duodenal atresia in four (2Oh). One child had Perthes disease. None of the children had recurrent seizures.
Hearing disorders Over the previous 2 years, hearing tests had been carried out on all the children and a diagnosis of 'glue ear' had been made in 112 (54.9%). In all 112, the diagnosis had been confirmed by an ear, nose and throat specialist. Insertion of grommets had been performed in 104 (92.9%) of the children with glue ear. In 16 (15.4%) of cases, more than one operation to insert grommets had been performed. Fluctuating hearing loss was common, but only 12 (5.9%) of the children had permanent hearing loss; of these, two wore hearing-aids.
Regular medications Thirty-six children were on vitamin supplements, 32 on vitamin and mineral supplements, 20 on regular antibiotics (to prevent 'glue ear' or respiratory tract infections), four were on thyroxine, two on medication for congestive cardiac failure, three on asthma prophylaxis, two on hayfever prophylaxis and four on cell therapy. The vitamin and mineral supplements were taken on the parents' initiative in all but two cases; in these two cases, the vitamins were given on the advice of a naturopath.
Skin problems
DISCUSSION Seventy-six (37.3%) of the children were reported to have dry skin, usually worse in winter. Sixteen (7.8%) had a history of eczema, 12 suffered from recurrent skin infections (furunculosis, boils and hydradenitis supprativa), two (1.0%) had areas of vitiligo and 1 (0.5%) had patchy alopecia.
An aim of this survey was to obtain information about children with Down syndrome who were attending a variety of different clinics or doctors. In this way, the frequency of health checks reflects the general practice in the State. It must be recognized
385
Health care of Down syndrome children
that the parents were ascertained through their attendance at a Down syndrome conference for parents and may be presumed to be relatively well-informed and well-motivated. The degree of health surveillance may therefore be higher than for other children with Down syndrome. The group was limited to schoolaged children to achieve some uniformity. Health problems for younger and older individuals may be different. The frequency and types of heart disease was lower than the 40-50% described in older but comparable with that of a more recent survey.’ It is interesting to note that an echocardiogram had been performed in a minority of children, even when a cardiac murmur was present. The high incidence of congenital heart disease in children with the syndrome, the well-known absence of a murmur in some children with a d e f e ~ tand , ~ the possibility of rapid progression to irreversible pulmonary hypertension, would seem to argue in favour of routine echocardiograms shortly after birth for all children with Down syndrome.6 The author is aware of parents of older children with Down syndrome who had been falsely reassured that their child had a normal heart as an infant, on the basis of absent clinical signs and a normal electrocardiograph alone. This study confirmed the high prevalence of refractive errors in children with Down Children with intellectual disability may be less likely to complain about visual deterioration and so regular refraction is necessary. Not only may new problems develop as the child grows older, but the child also usually becomes more co-operative, so vision should be regularly reassessed. Despite this, 4% of children had not had their eyes tested for over 3 years. There seemed to be a much greater awareness of the need for hearing tests, and all children had been tested in the previous 2 years. This may be because disproportionately slow development in language is common in children with Down syndrome, and speech therapists and school teachers often recommend hearing tests. The data suggest that children with Down syndrome who have glue ear may be more likely to have their grommets reinserted but, in the absence of a control group, this can only be an impression. The relatively high frequency of atlanto-axial instability in children with Down syndrome has been well-establi~hed.~~’~ All except two children in this survey were engaging in activities that put their necks under stress and yet 15.7% of children had not had a neck X-ray to check for this condition. This included a number of children who had needed a general anaesthetic (where detection of atlanto-axial instability would have been important prior to neck extension for endotracheal intubation). There is at present no way of knowing how many Australian children with Down syndrome may have died as a result of spinal cord damage, caused by atlanto-axial dislocation. Hypothyroidism, both congenital and acquired, is more comA difficult condition mon in children with Down to detect clinically in any child, this is even more so in Down syndrome which shares some of its features (such as hypotonia and developmental delay). Despite this, 35.3% of children had not had a thyroid function test in the previous 18 months and 17.6% had not been tested since birth. The frequency of leukaemia, diabetes mellitus, Hirschsprung disease and duodenal atresia was similar to that found in other
survey^.'^-^^ The health problems that are more common in children with Down syndrome such as heart disease, vision defects and hearing impairment are generally amenable to modern treatment. Respiratory tract infections constitute the most common
recurrent problem giving rise to ill health. Nevertheless, the majority of children had suffered from fewer than two upper respiratory tract infections in the previous 12 months and very few had had a lower respiratory tract infection during this period. Asthma seems as common in these children as other Australian children, but is usually mild. Parents of newborn babies with Down syndrome should, therefore, be reasurred that most children with Down syndrome do not suffer recurrent ill-health. They should, however, be told of the increased risk of certain conditions in this syndrome and advised that nearly all are correctable. They should also be told about appropriate health checks. This study revealed that many children, of presumably relatively well-informed and well-motivated parents, often do not have regular checks to detect problems known to be associated with this syndrome. This study did not attempt to detect whether this was due to doctors failing to recommend such tests or parents not complying with their doctor’s advice. The frequency of regular physical examinations, an essential part of health maintenance, was also not assessed. It is difficult to find a protocol of health checks that will satisfy all doctors and all parents. The scheme in Table 2 offers a compromise between not subjecting children and their parents to too many tests, while at the same time not missing treatable conditions or falsely reassuring parents. This series of tests and examinations has been followed at our clinic for the last 10 years and has been well-received by parents and staff. It has been useful to provide parents with a printed card listing the health checks. The date when the next check is due is added to the card at each visit. A paediatrician caring for a newborn baby with Down syndrome should discuss the need for regular health checks with the parents prior to the baby’s discharge from the maternity hospital. Paediatrician and parents should be clear about who will co-ordinate the checks. If this is to be someone other than the paediatrician (e.g. the general practitioner or the doctor at the child development unit), the paediatrician should ensure that this is communicated to the doctor concerned and that this doctor understands the nature and timing of the health checks.
Table 2 Suggested health checkslg Examination/test Physical examination Echocardiogram Thyroid test Vision test Hearing test Dental check Neck X-ray
Frequency At birth and 6 weeks, then annually Shortly afler birth At birth, 6 months, 1 year, then annually Annually from age 9 to 12 months Annually from age 9 to 12 months Annually from age 2 years At 3-4 years and at 10 years*
*If engaging in activities that put the neck under strain.
REFERENCES 1 Turner S..Sloper P., Cunningham C. Health problems in children with Down’s syndrome. Child Care Health Dev. 1990; 16: 83-97. 2 Pueschel S.M. Health concerns in people with Down syndrome. In Pueschel S. M., Tingey C., Rynders J. eds. New Perspectives in Down Syndrome. Coutcher Brookes. Baltimore. 1987. 3 Greenwood R. D., Nadas A. S. The clinical course of cardiac disease in Down’s syndrome. Pediatrics. 1976; 58: 983.
M.Selikowitz
4 Rowe R. D.. Uchida I. H. Congenital cardiac malformation in mongolism. Br. Heart J. 1960; 22: 331. 5 Hallidie-Smith K. A. The heart. In Lane D., Stratford B. eds. Current Approaches to Down's Syndrome. Cassel. London. 1987. 6 Hall D. M. B. ed. Health for all Children: A Programme for Child Health Surveillance. Oxford University Press, Oxford. 1989; 25. 7 Gardiner P. Visual defects in Down's and other mentally handicapped children. Br. J. Ophthal. 1967; 57: 469-74. 8 Fanning G. S.Vision in children with Down's syndrome. Aust. J. Optom. 1971; 54: 74-82. 9 Elliot S..Morton R. E.,Whitelaw R. A. J. Atlantoaxial instability and abnormalities of the odontoid in Down's syndrome. Arch. Dis. Child. 1988; 63: 1484-9. 10 Pueschel S.M., Scola F. H., Perry C. D. eta/. Atlanto-axial instability in children with Down syndrome. Pediatr. Radio/. 1981; 10: 129-32. 11 Fort P., Lifshitz F., Bellisario R. eta/. Abnormalities of thyroid function in infants with Down syndrome. J. Pediatr. 1984; 104: 545-7. 12 Pueschel S.M., Pezzallo J. C. Thyroid dysfunction in Down's syndrome. Am. J. Dis. Child. 1985; 139: 636-9.
13 Cullen A. T., Benezra-Obeiter R., Brink S. J. Thyroid function in young children with Down syndrome. Am. J. Dis. Child. 1986; 140: 479-83. 14 Miller R. W. Down's syndrome, other congenital malformations and cancer among the sibs of leukaemia children. N. Engl. J. Med. 1968; 268: 393. 15 Barbet R.. Spiers P. Oxford survey of childhood cancer: Progress report 11. Mon. Bull. Min. Health. 1964; 23: 46-52. 16 Millunsky A., Neurath P. W. Diabetes mellitus in Down's syndrome. Arch. Environ. Health 1968; 17: 372. 17 Kilcoyne R. F., Taybi H. Conditions associated with mongolism. Am. J. Roentgenol. 1970; 108: 615. 18 Fabia J., Drolette M. J. Malformations and leukaemia in children with Down's syndrome. Pediatrics. 1970; 45: 60. 19 Selikowitz M. Down Syndrome: the Facts. Oxford University Press. Oxford. 1990.
Health problems and health checks in school-aged children with Down syndrome M. SELIKOWITZ Tumbatin Developmental Clinic, The Prince of Wales Children’s Hospital, Sydnev. New South Wales, Australia
Abstract A survey by parent questionnaire and interview was carried out to determine the frequency of health problems in 204 children with Down syndrome. Seventy-two children (35.3%) had a congenital heart defect. Refraction had been performed on 196 and 68 (34.6%) of these had a refractive error. A diagnosis of ‘glue ear’ had been made in 112 (54.9%) and in 12 (11%) of these permanent hearing loss was present. Significant ill-health over the previous 12 months consisted of cardiac failure (two children), more than three upper respiratory tract infections (24 children), bronchitis (eight children), pneumonia (two children) and asthma (seven children). A neck X-ray had been performed in 172 (84.3%) and had demonstrated the presence of atlanto-axial instability in 12 (7%) of these. One hundred and thirty-two (64.7%) of the children had been tested for hypothyroidism in the previous 18 months and this had been found in four (3%) of these children. The implications of these and other findings are discussed in relation to parental counselling and planning of routine health checks. Key words:
Down syndrome; health screening; school children.
Children with Down syndrome are prone to certain health disorders. It is important to collect morbidity data to detect any geographical differences and changes over time. It is also essential to assess whether these children are receiving appropriate health surveillance. Such knowledge is useful for planning medical care for children with the syndrome and for providing realistic expectations when counselling parents of newborns with Down syndrome. There have been recent surveys of the health problems of children with Down syndrome in Europe’ and the United States? but not in Australia. Those in the United Kingdom and United States did not assess the frequency of regular health checks in the children studied. This paper reports the results of a survey of 204 school-aged children with Down syndrome. The aims of the study were: (i)to determine the nature and frequency of health problems in the children; and (ii)to determine the frequency of routine medical tests being carried out on the children.
parents and the information obtained was supplemented by telephone or personal interviews. All information was obtained during the period 8 June-12 August 1991.
Subjects
The parents of 204 school-aged children with Down syndrome filled in the questionnaire. There was a response rate of 94.9% of the parents attending the conference. The children’s ages ranged from 4 years 7 months to 17 years 1 month with a mean age of 8 years 9 months (116 females and 88 males). All children lived in New South Wales or the Australian Capital Territory. One hundred and twelve (54.9%) lived in a metropolitan area. Five (2.5%) were still at preschool, 83 (40.7%) attended an ordinary class, 68 (33.3%) a special class and 48 (23.5%) a special school.
RESULTS METHODS Validation Procedure
The sample consisted of school-aged children with Down syndrome. Their parents were requested to take part in the survey when they attanded a conference on Down syndrome held in Sydney in June 1991. A questionnaire was completed by the
Correspondence: Dr M. Selikowitz, Tumbatin Developmental Clinic, The Prince of Wales Children’s Hospital, High Street, Randwick, NSW 2030, Australia. M. Selikowitz, MRCP, FRACP, Specialist Paediatrician and Director. Accepted for publication 21 October 1991.
To provide a check on the accuracy of parents responses, hospital records of 18 children, randomly chosen from those who had attended The Prince of Wales Children’s Hospital, Sydney, were consulted to validate information given by their parents. In all 18, the hospital records corroborated the information provided by the parents.
Heart defects
Sixteen children (7.8%) were known to have a cardiac murmur of undetermined significance, while a congenital heart defect
M. Selikowitz
384
had been diagnosed in 72 (35.3%)of the children. The frequency of the different types of heart defect is shown in Table 1. Of the children with heart defects, 56 (77.8%) had been successfully repaired, 12 (16.7%) were regarded as trivial and four (5.6%) were inoperable. Of those that had an inoperable defect, two were on medication for cardiac failure and two had asymptomatic pulmonary hypertension. An echocardiogram to exclude heart disease had been performed on 88 (43.1%) of those children regarded as having normal hearts and six (37.5%) of those with cardiac murmurs of undetermined significance.
Table 1 Types of heart defect n
%
24 17 8 9 5 8
33.3 23.6 11.1 12.5
Respiratory problems A continual runny nose (often worse in winter) was present in 36 (17.6Y0) of children. Twenty-four (11.8%) of the children had not had an upper respiratory tract infection in the previous 12 months. Of the children who had had an upper respiratory tract infection in the previous 12 months, 152 (74.5%) had less than two during that period, four (2%) had two or three, while 24 (11.8%) had more than three such infections. Lower respiratory tract infections in the previous 12 months included bronchitis in eight (3.9%) children and pneumonia in two (1%). Twenty-eight (13.7%) children had a history of asthma, but this had given rise to symptoms in the previous 12 months in only seven (3.4%) of these children.
Atlanto-axial instability Ventricular septal defect Complete atrioventricular septal defect Partial atrioventricular septal defect Patent ductus artertosus Tetralogy of Fallot Multiple defects Bicuspid valve
1
6.9
11.1 1.4
Neck X-rays had been performed in 172 (84.3%) of the children and atlanto-axial instability was present in 12 (7%) of these. In one child, fixation of the first two cervical vertebrae had been performed for symptomatic subluxation.
Hypothyroidism
Eye disorders Refraction had been performed on 196 (96%) of the children during the previous 3 years. Refractive errors were found in 68 (34.6%) of these children and all had been satisfactorily corrected with spectacles. Forty-four (22.4%) were hypermetropic and 24 (12.2%) were myopic. Isolated astigmatism was present in one (0.5%) and astigmatism associated with hypermetropia in two (1.0%). Strabismus had been present in 36 (17.6%) of the total group of children and had been successfully treated in all with surgical repair, patching and/or glasses. In two (1.0%) children, a cataract had been present and had been removed. A history of blocked tear ducts in infancy was reported in three children and an absent nasolacrimal duct had been found in one child.
In one hundred and thirty-two (64.7%) of the children, thyroid testing had been performed in the previous 18 months. Twelve (9.1%) of these had high thyroid-stimulating hormone levels, but normal T, and T, while four (3%) had hypothyroidism. In all those with hypothyroidism, the condition was subclinical at the time of diagnosis. All four children were on regular thyroxine. Forty-four (21.6%) children had not had thyroid testing for over 3 years, and in 36 (17.6%) children, thyroid testing had not been performed since birth.
Other health problems Leukaemia was present in two children (1.0%) and diabetes mellitus in one (0.5%). Hirschsprung disease had been present in three (1.5%) and duodenal atresia in four (2Oh). One child had Perthes disease. None of the children had recurrent seizures.
Hearing disorders Over the previous 2 years, hearing tests had been carried out on all the children and a diagnosis of 'glue ear' had been made in 112 (54.9%). In all 112, the diagnosis had been confirmed by an ear, nose and throat specialist. Insertion of grommets had been performed in 104 (92.9%) of the children with glue ear. In 16 (15.4%) of cases, more than one operation to insert grommets had been performed. Fluctuating hearing loss was common, but only 12 (5.9%) of the children had permanent hearing loss; of these, two wore hearing-aids.
Regular medications Thirty-six children were on vitamin supplements, 32 on vitamin and mineral supplements, 20 on regular antibiotics (to prevent 'glue ear' or respiratory tract infections), four were on thyroxine, two on medication for congestive cardiac failure, three on asthma prophylaxis, two on hayfever prophylaxis and four on cell therapy. The vitamin and mineral supplements were taken on the parents' initiative in all but two cases; in these two cases, the vitamins were given on the advice of a naturopath.
Skin problems
DISCUSSION Seventy-six (37.3%) of the children were reported to have dry skin, usually worse in winter. Sixteen (7.8%) had a history of eczema, 12 suffered from recurrent skin infections (furunculosis, boils and hydradenitis supprativa), two (1.0%) had areas of vitiligo and 1 (0.5%) had patchy alopecia.
An aim of this survey was to obtain information about children with Down syndrome who were attending a variety of different clinics or doctors. In this way, the frequency of health checks reflects the general practice in the State. It must be recognized
385
Health care of Down syndrome children
that the parents were ascertained through their attendance at a Down syndrome conference for parents and may be presumed to be relatively well-informed and well-motivated. The degree of health surveillance may therefore be higher than for other children with Down syndrome. The group was limited to schoolaged children to achieve some uniformity. Health problems for younger and older individuals may be different. The frequency and types of heart disease was lower than the 40-50% described in older but comparable with that of a more recent survey.’ It is interesting to note that an echocardiogram had been performed in a minority of children, even when a cardiac murmur was present. The high incidence of congenital heart disease in children with the syndrome, the well-known absence of a murmur in some children with a d e f e ~ tand , ~ the possibility of rapid progression to irreversible pulmonary hypertension, would seem to argue in favour of routine echocardiograms shortly after birth for all children with Down syndrome.6 The author is aware of parents of older children with Down syndrome who had been falsely reassured that their child had a normal heart as an infant, on the basis of absent clinical signs and a normal electrocardiograph alone. This study confirmed the high prevalence of refractive errors in children with Down Children with intellectual disability may be less likely to complain about visual deterioration and so regular refraction is necessary. Not only may new problems develop as the child grows older, but the child also usually becomes more co-operative, so vision should be regularly reassessed. Despite this, 4% of children had not had their eyes tested for over 3 years. There seemed to be a much greater awareness of the need for hearing tests, and all children had been tested in the previous 2 years. This may be because disproportionately slow development in language is common in children with Down syndrome, and speech therapists and school teachers often recommend hearing tests. The data suggest that children with Down syndrome who have glue ear may be more likely to have their grommets reinserted but, in the absence of a control group, this can only be an impression. The relatively high frequency of atlanto-axial instability in children with Down syndrome has been well-establi~hed.~~’~ All except two children in this survey were engaging in activities that put their necks under stress and yet 15.7% of children had not had a neck X-ray to check for this condition. This included a number of children who had needed a general anaesthetic (where detection of atlanto-axial instability would have been important prior to neck extension for endotracheal intubation). There is at present no way of knowing how many Australian children with Down syndrome may have died as a result of spinal cord damage, caused by atlanto-axial dislocation. Hypothyroidism, both congenital and acquired, is more comA difficult condition mon in children with Down to detect clinically in any child, this is even more so in Down syndrome which shares some of its features (such as hypotonia and developmental delay). Despite this, 35.3% of children had not had a thyroid function test in the previous 18 months and 17.6% had not been tested since birth. The frequency of leukaemia, diabetes mellitus, Hirschsprung disease and duodenal atresia was similar to that found in other
survey^.'^-^^ The health problems that are more common in children with Down syndrome such as heart disease, vision defects and hearing impairment are generally amenable to modern treatment. Respiratory tract infections constitute the most common
recurrent problem giving rise to ill health. Nevertheless, the majority of children had suffered from fewer than two upper respiratory tract infections in the previous 12 months and very few had had a lower respiratory tract infection during this period. Asthma seems as common in these children as other Australian children, but is usually mild. Parents of newborn babies with Down syndrome should, therefore, be reasurred that most children with Down syndrome do not suffer recurrent ill-health. They should, however, be told of the increased risk of certain conditions in this syndrome and advised that nearly all are correctable. They should also be told about appropriate health checks. This study revealed that many children, of presumably relatively well-informed and well-motivated parents, often do not have regular checks to detect problems known to be associated with this syndrome. This study did not attempt to detect whether this was due to doctors failing to recommend such tests or parents not complying with their doctor’s advice. The frequency of regular physical examinations, an essential part of health maintenance, was also not assessed. It is difficult to find a protocol of health checks that will satisfy all doctors and all parents. The scheme in Table 2 offers a compromise between not subjecting children and their parents to too many tests, while at the same time not missing treatable conditions or falsely reassuring parents. This series of tests and examinations has been followed at our clinic for the last 10 years and has been well-received by parents and staff. It has been useful to provide parents with a printed card listing the health checks. The date when the next check is due is added to the card at each visit. A paediatrician caring for a newborn baby with Down syndrome should discuss the need for regular health checks with the parents prior to the baby’s discharge from the maternity hospital. Paediatrician and parents should be clear about who will co-ordinate the checks. If this is to be someone other than the paediatrician (e.g. the general practitioner or the doctor at the child development unit), the paediatrician should ensure that this is communicated to the doctor concerned and that this doctor understands the nature and timing of the health checks.
Table 2 Suggested health checkslg Examination/test Physical examination Echocardiogram Thyroid test Vision test Hearing test Dental check Neck X-ray
Frequency At birth and 6 weeks, then annually Shortly afler birth At birth, 6 months, 1 year, then annually Annually from age 9 to 12 months Annually from age 9 to 12 months Annually from age 2 years At 3-4 years and at 10 years*
*If engaging in activities that put the neck under strain.
REFERENCES 1 Turner S..Sloper P., Cunningham C. Health problems in children with Down’s syndrome. Child Care Health Dev. 1990; 16: 83-97. 2 Pueschel S.M. Health concerns in people with Down syndrome. In Pueschel S. M., Tingey C., Rynders J. eds. New Perspectives in Down Syndrome. Coutcher Brookes. Baltimore. 1987. 3 Greenwood R. D., Nadas A. S. The clinical course of cardiac disease in Down’s syndrome. Pediatrics. 1976; 58: 983.
M.Selikowitz
4 Rowe R. D.. Uchida I. H. Congenital cardiac malformation in mongolism. Br. Heart J. 1960; 22: 331. 5 Hallidie-Smith K. A. The heart. In Lane D., Stratford B. eds. Current Approaches to Down's Syndrome. Cassel. London. 1987. 6 Hall D. M. B. ed. Health for all Children: A Programme for Child Health Surveillance. Oxford University Press, Oxford. 1989; 25. 7 Gardiner P. Visual defects in Down's and other mentally handicapped children. Br. J. Ophthal. 1967; 57: 469-74. 8 Fanning G. S.Vision in children with Down's syndrome. Aust. J. Optom. 1971; 54: 74-82. 9 Elliot S..Morton R. E.,Whitelaw R. A. J. Atlantoaxial instability and abnormalities of the odontoid in Down's syndrome. Arch. Dis. Child. 1988; 63: 1484-9. 10 Pueschel S.M., Scola F. H., Perry C. D. eta/. Atlanto-axial instability in children with Down syndrome. Pediatr. Radio/. 1981; 10: 129-32. 11 Fort P., Lifshitz F., Bellisario R. eta/. Abnormalities of thyroid function in infants with Down syndrome. J. Pediatr. 1984; 104: 545-7. 12 Pueschel S.M., Pezzallo J. C. Thyroid dysfunction in Down's syndrome. Am. J. Dis. Child. 1985; 139: 636-9.
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