Medical issues among children and teenagers with Down syndrome in Hong Kong

We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong. Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.06 and 17.16 years were included. Cardiovascular problems were observed in 216 (53%), endocrine problems in 111 (27%), gastrointestinal problems in 46 (11%), haematological problems in 18 (4%), neurological problems in 27 (7%), sleep problems in 36 (9%), skeletal problems in 56 (14%), visual problems in 195 (48%) and auditory problems in 137 (34%). Conclusions: The prevalence of medical problems was high in children and teenagers with Down syndrome in Hong Kong and similar to previous findings elsewhere. Future studies on the local prevalence of medical problems in the adult population with Down syndrome would help to define their medical needs.

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Yam, W, Tse, P, Yu, C, Chow, C, But, W, Li, K, Lee, L, Fung, E, Mak, P, and Lau, J. (2007) Medical issues among children and teenagers with Down syndrome in Hong Kong. Down Syndrome Research and Practice, 12(2), 138-140. doi:10.3104/reports.2005

Around 1 in 767 babies are born with Down syndrome in Hong Kong [1] . A number of medical conditions occur more often among children with Down syndrome than among the general population [2-5] . These children need a wide range of services delivered by medical specialists, including paediatricians, general surgeons, orthopaedic surgeons, cardiothoracic surgeons, otolaryngologists and ophthalmologists.

Data on the prevalence of medical problems in these children is important for optimal service planning. Previous international and local studies have investigated many issues among children with Down syndrome, including: cardiovascular [6-8] , endocrinology [9-12] , neurology [13-15] , orthopaedics [16,17] , sleep [18] and visual and auditory [19-23] . This study aimed to examine the prevalence of various common medical issues among children with Down syndrome in Hong Kong.


A cross-sectional survey method was used. During a study on the growth parameters of children with Down syndrome from 1999 to 2001, information about the health status of these children was collected. Paediatric departments of all hospitals in Hong Kong were invited to participate. Children aged below 18 years old were included in the study. Demographic data collected included the name, sex, age, date of birth and identity card number. The age of a child was taken as the date on which the latest growth parameters were recorded. Children with the same name and identity card number were considered to be duplicate cases. For children without an identity card number submitted, they were regarded as duplicate cases if they had the same name, sex, age and date of birth. Hospital records were reviewed by participating paediatricians. Relevant data was recorded according to a pre-set questionnaire (SUPPLEMENTARY FIGURE 1). The questionnaire was designed by the participating paediatricians and epidemiologist who had special interests in Down syndrome. Nine major areas (including cardiovascular, endocrine, gastrointestinal, haematological, neurological, sleep, skeletal, visual and auditory) were studied. Each area was further classified and common conditions were listed. The paediatricians were asked to review the case records and to indicate whether the child had the condition. There was a column for "other problems" in each area so that unlisted conditions might be recorded. The paediatricians were allowed to choose the "don't know" category if there was insufficient information in the record. Uncompleted questions were classified as "don't know". The percentage of children with a particular condition was calculated using the total number of children in the study (including those in the "don't know" category) as the denominator. Therefore, the stated percentages reflect a minimum estimate.


Seven of the 15 public hospitals with paediatric clinics in Hong Kong participated in the study. From 423 records, 407 unique patients under the age of 18 years were identified, of whom 232 were male and 175 were female. Seven children were not of Chinese ethnic origin. The mean age was 5.44 years (standard deviation 4.10 years, range 0.06 - 17.16 years).

Number of children with the condition + Percentage %
Cardiovascular problems 216 53
Ventricular septal defect 64 16
Atrial septal defect 78 19
Atrioventricular septal defect 23 6
Patent ductus arteriosus 91 22
Tetralogy of Fallot 6 1
Pulmonary hypertension 44 11
Others 38 9
Endocrine problems 111 27
Thyroid problems* 99 24
Diabetes mellitus 2 <1
Others 10 2
Gastrointestinal problems 46 11
Hirschsprung's disease 3 1
Malrotation of gut 3 1
Duodenal atresia 7 2
Esophageal atresia 2 <1
Anal atresia 16 4
Others 23 6
Haematological problems 18 4
Acute leukaemia 8 2
Transient myeloproliferative disease 8 2
Others 6 1
Neurological problems 27 7
Epilepsy 7 2
Severe behavioural problems # 16 4
Others 8 2
Sleep p roblems 36 9
Sleep apnoea 27 7
Other sleep disturbance 20 5
Skeletal problems 56 14
Atlantoaxial subluxation 20 5
Atlantoaxial dislocation 3 1
Dislocation of patella 0 0
Flat foot 20 5
Unstable hip 1 <1
Others 20 5
Visual problems 195 48
Cataract 4 1
Refractive disorder 143 35
Squint 53 13
Nystagmus 50 12
Amblyopia 12 3
Blepharitis 3 1
Others 16 4
Hearing problems 137 34
Hearing Loss 126 31
Conductive hearing loss 72
Neurosensory hearing loss 25
Not specified 29
Chronic otitis media 21 5
Others 6 1

+ Children might have more than one medical condition, therefore the total number of children in each area might not be equal to the sum of children with various conditions in that area.

* Detailed study on the thyroid problem had been reported elsewhere [12].

# Behaviour problems should be severe enough to affect normal function and require professional attention or treatment by a psychiatrist, clinical psychologist or paediatrician.

Table 1 | Medical issues identified among children and teenagers with Down syndrome in Hong Kong

Two hundred and sixteen (53%) children had cardiovascular problems, 111 (27%) endocrine problems, 46 (11%) gastrointestinal problems, 18 (4%) haematological problems, 27 (7%) neurological problems, 36 (9%) sleep problems, 56 (14%) skeletal problems, 195 (48%) visual problems and 137 (34%) hearing and ear-nose-throat problems. TABLE 1 provides further detail of the findings concerning each of these areas. Further detail on findings concerning thyroid function have been reported elsewhere [12] .


Our results are generally in accordance with other studies [2-20] . However, our study differs from previously reported studies in two important respects. Firstly, our sample size was one of the largest reported to date, enabling us to examine the frequency of less commonly reported problems. Secondly, most previously reported studies were performed at a regional centre while our study drew participants from multiple centres.

To determine the proportion of children with Down syndrome covered by our study, the total number of children with Down syndrome in the territory should be ascertained. Such prevalence data was not available because there was no central registry for children with Down syndrome in Hong Kong. We therefore examined information on the birth rate, incidence of Down syndrome among live births and the mortality rate to estimate that the number of children with Down syndrome aged below 18 years in the territory is around 1400. Our study included 407 children (29% of the total number estimated to be living in Hong Kong).

Being a cross-sectional survey, our results essentially reflected the prevalence of medical co-morbidities in this cohort of children at a particular point in time. The results should not be interpreted as the actual prevalence of these medical conditions in all children with Down syndrome. Another limitation of our study was our inability to ascertain the health status of children who were not under medical care. This might post a bias against children who did not attend a clinic because they did not have any health problems.

Nevertheless the prevalence of various medical problems was shown to be high in children with Down syndrome in Hong Kong. We advocate the use of a medical checklist in the care of these children. A pamphlet had been published jointly by the Hong Kong Paediatric Society and the Hong Kong Down Syndrome Association. In additional to age-specific checklist on medical problems, the pamphlet includes advice on anticipatory health care.

As children with Down syndrome mature into adulthood, medical care remains important. According to a recent survey of 125 adults with Down syndrome aged 35-55 years, conducted by Hong Kong Polytechnic University and the Hong Kong Down Syndrome Association, 56% had health problems and 46% would like to receive medical care (unpublished data). Future studies on the local prevalence of various medical problems in the adult population with Down syndrome would help to define their medical needs.


  1. Lo KK, Lam STS, Chan WK. Down syndrome in Hong Kong. Hong Kong Journal of Paediatrics. 1994;11: 104-8.
  2. A merican Academy of Pediatrics Committee on Genetics. Health Supervision for Children With Down Syndrome. Pediatrics. 2001;107(2):442-449.
  3. Hayes A, Batshaw ML. Down Syndrome. Pediatric Clinic of North America. 1993;40(3):523-535.
  4. Van Cleve SN, Cohen WI. Part I: Clinical practice guidelines for children with Down syndrome from birth to 12 years. Journal of Pediatric Health Care. 2006;20(1):47-54.
  5. Van Cleve SN, Cannon S, Cohen WI. Part II: Clinical practice guidelines for adolescents and young adults with Down syndrome: 12 to 21 years. Journal of Pediatric Health Care. 2006;20(3):198-205.
  6. de Rubens Figueroa J, del Pozzo Magana B, Pablos Hach JL, Calderon Jimenez C, Castrejon Urbina R.[Heart malformations in children with Down syndrome]. Revista Española de Cardiología. 2003; 56(9): 894-9. Spanish.
  7. Abbag FI. Congenital heart diseases and other major anomalies in patients with Down syndrome. Saudi Medical Journal. 2006;27(2):219-222.
  8. Lo NS, Leung PM, Lau KC, Yeung CY. Congenital cardiovascular malformations in Chinese children with Down's syndrome. Chinese Medical Journal. 1989;102(5):382-6.
  9. Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid dysfunction in Down syndrome: relation to age and thyroid autoimmunity. Archives of Disease in Childhood. 1998;79:242-5.
  10. Noble SE, Leyland K, Findlay CA, Clark CE, Redfern J, Mackenzie JM, Girdwood RW, Donaldson MD. School based screening for hypothyroidism in Down syndrome by dried blood spot TSH measurement. Archives of Disease in Childhood. 2000;82:27-31.
  11. Wong LM, Li KY, Tse K. Thyroid dysfunction in Chinese children with Down syndrome. Hong Kong Journal of Paediatrics. 2004;9:114-7.
  12. Mak PPY, But WM, Yu CM, Chow CB, Li KY, Lee LP, Yam WKL, Tse PWT, Fung E, Lau J, Tse WY. Thyroid dysfunction in Chinese children and adolescents with Down syndrome. Hong Kong Journal of Paediatrics. 2006;11:110-117. Available from:;11;110-117.pdf.
  13. Kwong KL, Wong V. Neurodevelopmental profile of Down syndrome in Chinese children. Journal of Paediatric Child Health. 1996;32(2):153-157.
  14. Fung CW, Kwong KL, Tsui EY, Wong SN. Moyamoya syndrome in a child with Down syndrome. Hong Kong Medical Journal. 2003;9(1):63-66.
  15. Fung CW, Khong PL, To R, Goh W, Wong V. Video-fluoroscopic study of swallowing in children with neurodevelopmental disorders. Pediatrics International. 2004;46(1):26-30.
  16. Jacobsen FS, Hansson G. Orthopaedic disorders in Down Syndrome. Current Orthopaedics. 2000;14: 215-22.
  17. Merrick J, Ezra E, Josef B, Hendel D, Steinberg DM, Wientroub, S. Musculoskeletal problems in Down Syndrome European Paediatric Orthopaedic Society Survey: the Israeli sample. Journal of Pediatric Orthopaedics (Part B). 2000;9(3):185-92.
  18. Shott SR, Amin R, Chini B, Heubi C, Hotze S, Akers R. Obstructive sleep apnea: Should all children with Down syndrome be tested? Archives of Otolaryngology - Head and Neck Surgery. 2006;132:432-6.
  19. da Cunha RP, Moreira JB. Ocular findings in Down's syndrome. American Journal of Opthalmology. 1996; 122(2):236-44.
  20. Liza-Sharmini AT, Azlan ZN, Zilfalil BA. Ocular findings in Malaysian children with Down syndrome. Singapore Medical Journal. 2006;47(1):14-9.
  21. Wong V, Ho D. Ocular abnormalities in Down syndrome: analysis of 140 Chinese children. Pediatric Neurology. 1997;16(4):311-4.
  22. Roizen NJ, Wolters C, Nicol T, Blondis TA. Hearing loss in children with Down syndrome. Journal of Pediatrics. 1993;123(1):S9-12.
  23. Venail F, Gardiner Q, Mondain M. ENT and speech disorders in children with Down's syndrome: An overview of pathophysiology, clinical features, treatments, and current management. Clinical Pediatrics. 2004;43(9):783-91.


We would like to thank the Hong Kong Down Syndrome Association for their assistance in this project.

Received: 21 September 2006; Accepted 14 February 2007; Published online: 9 August 2007.