Dementia implies decline in cognitive function interfering with an individual’s life. Mild cognitive impairment (MCI) is a clinical transitional state in which a person is cognitively impaired, typically in the memory domain, which is greater than that expected for a person at the given age and education level. A longitudinal study revealed that MCI patients proceeded to overt dementia at a rate of 10% to 15% per year, compared with a rate of 1% to 2% in control subjects.1 This implies that MCI patients have high risk of progressing to dementia. Prevalence of MCI varies widely, depending on the diagnostic criteria used and population studied. Its prevalence ranges from 3% to 13% in people above 65 years of age.2 Hence, identification of MCI patients is important for successful implementation of preventive strategies and early interventions. In practice, cognitive screening tools are used to detect persons with cognitive impairment who then undergo a detailed assessment process to ascertain the subtype, severity, caregiver status, and the presence of behavioural and psychological symptoms of dementia.

The Mini-Mental State Examination (MMSE) is the most widely used screening tool introduced by Folstein et al in 1975.3 It was originally designed for screening Alzheimer’s disease and does not encompass all cognitive deficits. It has several well-known drawbacks, including low level of task difficulty, likelihood of ceiling effects (ie may fail to detect mild/moderate cognitive impairment in people with high education level or premorbid intelligence), and narrow range of cognitive domains assessed. Consequently, it has low sensitivity for MCI patient detection. The Cantonese version of Mini-Mental State Examination (CMMSE) was translated and validated by Chiu et al in 19944 with good sensitivity (97.5%) and specificity (97.3%) to discriminate subjects with moderate-to-severe dementia from normal subjects.

The Montreal Cognitive Assessment (MoCA) is a brief and potentially useful screening tool developed and validated by Nasreddine et al.5 It was conceptualised in MCI patients performing within a normal range on the MMSE. The MoCA is a one-page test with a maximum score of 30. One point is added if the person has 12 years of education or less. A score of 23 to 26 represents MCI, 17 to 22 represents moderate impairment, and 16 or below represents severe impairment suggesting dementia.6 The original validation study of MoCA reported a sensitivity of 100% and specificity of 87% in detecting mild Alzheimer’s disease using a cutoff score of 26. It reported a sensitivity of 90% in detecting MCI.6 It was validated to detect cognitive impairment in different clinical populations including those with Parkinson’s disease, brain metastases and stroke, and had established cross-cultural performance in detecting MCI and dementia.7 8 9 10 11 12 However, educational adjustment and cutoffs varied. In a Korean study, a cutoff score of 22/23 yielded a sensitivity of 89% and specificity of 84% for screening MCI.7 A study in mainland China suggested 20/21 as cutoff score (Xie He Hospital version) with 84.6% sensitivity and 76% specificity.8 It was the same as the Hong Kong version: 73% sensitivity and 75% specificity for patients with small vessel disease (SVD).13 Furthermore, the original MoCA has high level of internal consistency (Cronbach’s alpha of 0.83) and test-retest reliability (correlation coefficient=0.92, P<0.001).5

This study employed the Hong Kong version of MoCA (HK-MoCA) which has been validated in Chinese patients with cerebral SVD by Wong et al.13 The primary objective was to evaluate the HK-MoCA as a screening tool in identification of MCI and dementia in Chinese older adults, and to determine the corresponding optimal cutoff points. In addition, the ability of HK-MoCA in discriminating dementia subtypes was examined.

This was a cross-sectional validation study performed from August 2011 to June 2013 to validate HK-MoCA as a cognitive screening instrument. It was conducted at the Cognition Clinic of Department of Medicine and Geriatrics and the Memory Clinic of Department of Psychiatry in a general hospital (United Christian Hospital) of Hong Kong. Cantonese-speaking Chinese adults aged 60 years or above, who were seen for suspected cognitive impairment and gave consent, were recruited. They were divided into three groups: subjects with dementia, subjects who met the criteria for MCI, and cognitively normal controls (NC). Besides, NC were recruited from those who attended clinics of other subspecialties or elderly vaccination programmes under Department of Medicine and Geriatrics.

Patients were excluded if they had a history, as documented in medical records, of neurodegenerative disorders, central nervous system infection, brain tumour, significant head trauma, subdural haematoma, epilepsy, significant psychiatric disorders (such as major depression or schizophrenia), substance abuse, or alcoholism. Besides, persons with inability to use a pen or with communication barriers such as deafness or significant language or speech problem were also excluded. Last of all, advanced dementia patients with Global Deterioration Scale (GDS) stage 6 or above were not recruited. The flowchart of participant recruitment is shown in the Figure. Ethical approval was obtained from the Kowloon Central/Kowloon East Cluster Clinical Research Ethics Committee of the Hospital Authority.

Basic demographic information (age, gender, and education level), cardiovascular risk factors (diabetes mellitus, hypertension, hyperlipidaemia, coronary heart disease, and stroke) as well as clinical information about drinking and smoking habits was collected. Besides, a semi-structured mental status examination and a comprehensive neuropsychological battery (including biochemical screening and cerebral imaging tests) were performed for making a final cognitive diagnosis by experienced geriatricians and psychogeriatricians according to the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders, 4th edition) criteria14 for dementia and Petersen et al’s criteria for MCI.6 The HK-MoCA scores were validated against expert diagnoses.

The CMMSE and HK-MoCA were administered to each subject at the same consultation. The administration was standardised and was done in turn by two investigators. The HK-MoCA had more questions and was harder than CMMSE. To avoid frustration, CMMSE was administered before HK-MoCA. Fatigue may reduce attention span and increase the likelihood of error. Hence, there was a 5-to-10-minute break to minimise the fatigue effect.

Functional decline of demented subjects was determined using the GDS. It predicted a patient’s ability to function, as reflected in activities of daily living (ADL) and instrumental ADL as well as psychiatric morbidity on the basis of progressive cognitive delcine.9 It is composed of seven stages defined by a set of clinical characteristics. Stages 1 to 3 are pre-dementia stages. Stages 4 to 7 are dementia stages. Beginning in stage 5, an individual can no longer survive without assistance.

Statistical software, MedCalc V12.3.0.0, was used for sample size calculation. Based on a previous study,15 the estimated prevalence rates of MCI and dementia were 8.5% and 12.5%, respectively. The overall sample size was determined to be 138 (NC:MCI:dementia=1:1:1) with a power of 0.8 and a type I error of 0.05. In the receiver operating characteristic (ROC) curve analyses of normal versus cognitive impaired groups, a sample of 90 from the positive group would achieve 90% power to detect a difference of 0.12 between the area under the curve (AUC) of alternative hypothesis and an AUC under the null hypothesis of 0.9000 (for MoCA) using a two-sided z-test at a significance level of 0.05.

All statistical analyses were performed using the Statistical Package for the Social Sciences (SPSS) version 17.0 and a difference with a P value of <0.05 was regarded as statistically significant (two-tailed test). Group differences in demographic characteristics and various medical diseases were examined using one-way analysis of variance or Chi squared test for categorical data. Pairwise comparisons were performed afterwards with the significance level adjusted by the Bonferroni method. For differences attaining statistical significance, multivariate linear regression was performed to examine the influence upon performance of the HK-MoCA total score.

Inter-rater reliability was reflected by intraclass correlation coefficients with a sub-sample of 20 participants (persons with cognitive impairment and NC) being tested 2 to 4 weeks apart. Convenience sampling was employed with 10 participants by each investigator. According to the optimal cutoff points suggested in this study, five of them were NC, four were persons with MCI, and 11 were demented persons. Internal consistency was measured using Cronbach’s alpha which measured pairwise correlations between tested items. Criterion validity was assessed using ROC analysis which gave the sensitivity and specificity of HK-MoCA at different cutoff points. With that, optimal cutoff scores were chosen using highest Youden index (sensitivity – [1 – specificity]). In case the indexes were very close between the two scores, the one with higher sensitivity would be chosen. The CMMSE and GDS scores were used to test the concurrent validity. The relationships between the performance of HK-MoCA, CMMSE, and GDS were evaluated using Pearson and Spearman’s rho correlation coefficients. Finally, the discriminatory power of individual cognitive domains was explored by examining any significant difference in scores among the three groups.

A total of 272 eligible subjects completed the HK-MoCA screening in which 49 were NC, 93 were MCI subjects, and 130 were demented subjects (99 with mild and 31 with moderate severity of dementia). Of all the subjects with dementia, 49.2% had Alzheimer’s disease, 16.2% had vascular dementia, and 34.6% had dementia of mixed aetiology. The administration time depended on the education level and severity of cognitive impairment, and was around 10 to 15 minutes.

Sample characteristics are summarised in Table 1. Overall, 60% of recruited subjects were females with a mean (± standard deviation) age of 77.41 ± 7.53 years. The level of education was primary and below in 76% of the participants, with a mean of 4.21 ± 4.43 years of education. Significant differences among the three groups (NC, MCI, and dementia) were found in the variables of age (F [2,269]=13.230, P<0.001), years of education (F [2,269]=6.502, P=0.002), HK-MoCA score (F [2,269]=126.892, P<0.001), CMMSE score (F [2,269]=152.868, P<0.001), and GDS score (F [2,269]=933.751, P<0.001). There was no significant difference among the three cognition groups by gender (Chi squared test=3.653, P=0.161). Subjects in the dementia group were significantly older (79.53 ± 6.84 years; P<0.001) and had less years of education (3.26 ± 4.03 years; P=0.002) than those in the other two groups. In contrast, no significant differences were demonstrated among the three subgroups of dementia (Alzheimer’s disease, vascular dementia, and mixed dementia) in terms of age (F [2,127]=2.873, P=0.060), years of education (F [2,127]=0.630, P=0.534), HK-MoCA score (F [2,127]=0.428, P=0.653), CMMSE score (F [2,127]=0.322, P=0.725), and GDS score (F [2,127]=0.161, P=0.851).

There was no significant difference between those with dementia and NC in terms of drinking and smoking habits, and various medical conditions, except for stroke (P=0.031). The result was reasonable as stroke is a known cause of dementia.

From the original MoCA study, differences across cognition groups were more pronounced using MoCA than MMSE.5 This study did not reproduce the wide dispersion of MoCA scores and, indeed, mean scores of HK-MoCA of various groups were lower in general. The results were justified by the generally low education level of local Chinese older adults.

The appropriateness of original education adjustment of MoCA total score was uncertain in local Chinese older adults. This study examined the effect of age and education level upon the performance of HK-MoCA by regressing the unadjusted raw score of HK-MoCA on age, years of education, and clinical diagnosis using multivariate linear models. The results are summarised in Table 2. There was a positive relationship between years of education and performance on HK-MoCA (β, 0.318; P<0.001) independent of age and clinical diagnosis. The effect of age was not significant (P=0.530).

The original MoCA recommendation of adding one point to subjects with 12 years of education or less was probably unsuitable here. In this study, the level of education in 76% of subjects was primary and below. Only 11 (4%) subjects had more than 12 years of education. For this reason, we adopted a lower level of education adjustment to 6 years of education which had been employed by studies in China,8 10 Korea,7 and Hong Kong.13 Using this adjustment for education level, regression R² coefficient was 0.587. Thus, more than half of the variation in HK-MoCA was explained by the model.

Intraclass correlation coefficient for the inter-rater reliability was 0.987 (P≤0.001). Besides, the Cronbach’s alpha score was 0.767, indicating a high level of internal consistency. Comparison of GDS, CMMSE, and HK-MoCA scores between NC, MCI, and dementia groups showed that the severity level of cognitive impairment graded by GDS score was significantly correlated with HK-MoCA score with Spearman’s rho correlation coefficient of -0.739 (P≤0.001). Similarly, Pearson correlation coefficient of CMMSE with HK-MoCA scores was 0.894 (P≤0.001). Together, it supported high concurrent validity of HK-MoCA.

Criterion validity of the adjusted HK-MoCA score was examined using ROC analysis. Various optimal cutoff scores are listed in Table 3. The optimal cutoff score for HK-MoCA to differentiate persons with cognitive impairment (MCI and dementia) from NC was 21/22, giving a sensitivity of 0.928, specificity of 0.735, and AUC of 0.920 (95% confidence interval [CI], 0.881-0.959). Moreover, the cutoff to detect MCI was also 21/22 with a sensitivity of 0.828, specificity of 0.735, and AUC of 0.847 (95% CI, 0.778-0.902). For comparison, CMMSE score to detect MCI was 26/27 with a sensitivity of 0.785, specificity of 0.816, and AUC of 0.857. The optimal cutoff score for HK-MoCA to detect dementia was 18/19 with a sensitivity of 0.923, specificity of 0.918, and AUC of 0.971 (95% CI, 0.935-0.991).

The HK-MoCA total score and seven cognitive domain scores discriminated NC, MCI, and dementia groups in a stepwise fashion. In general, demented participants performed most poorly, followed by the MCI participants. Like the original study, delayed recall task was the first and most impaired domain in MCI participants. Besides, sample participants with GDS score equal to 4 were used to examine the discriminatory ability in differentiating subtypes of dementia; no significant difference was demonstrated (P values ranged from 0.243 to 0.672). The generally low education level and small dementia subgroup sample size might have compromised the results.

This study verified that HK-MoCA has high diagnostic accuracy for detecting dementia subjects (92.3% sensitivity, 91.8% specificity). It is reasonably good and comparable with CMMSE in screening for MCI. The original MoCA by Nasreddine et al5 in 2005 and other validation studies of MoCA in different languages established the superiority to MMSE. Explanations are that MMSE did not test complex cognitive impairments in domains such as visuospatial/executive function and abstract reasoning. In addition, the attention and delayed recall tasks are not as challenging as that in MoCA. In practice, MoCA picks up more deficits in executive function, attention, and delayed recall.16 This study did not reproduce the superiority to MMSE and this may be related to the low education level of Chinese older adults. Due to the Chinese Civil War from 1927 to 1950, the majority of elderly Chinese individuals did not receive much education and many were illiterate. According to published data,17 the average number of years of education for elderly Chinese individuals is about 5 years, which is significantly less than that of their western counterparts.

The validity of HK-MoCA is based on its non-inferiority to CMMSE. This study compared HK-MoCA with CMMSE using a new cutoff point derived from the same study and found comparable sensitivity and specificity in detection of MCI. If the CMMSE cutoff as suggested by Chiu et al4 was utilised, HK-MoCA is definitely more sensitive. As such, HK-MoCA is relatively easy to use (both required less than 15 minutes to administer) and incorporates important domains missed in CMMSE. It is a clinically efficient and effective screening instrument and can be generalised for use in Chinese older adults with MCI or dementia. Customarily, many memory clinics utilise MMSE as a screening tool as it is convenient to use and available free of charge. Considering the ceiling effect of MMSE due to the low level of task difficulty and the copyright fees introduced recently, validated HK-MoCA provides an attractive alternative.

Montreal Cognitive Assessment is one of the common cognition screening instruments used locally and worldwide. It is commonly used to discriminate cognitive impairment due to various causes. In Hong Kong, there was only one validation study conducted by Wong et al13 involving use of HK-MoCA in patients with cerebral SVD. They demonstrated that HK-MoCA differentiated SVD patients from controls (AUC=0.81) with an optimal cutoff at 21/22. This cutoff point was valid to predict SVD patients with cognitive impairment only, although in clinical practice, it was commonly used to discriminate cognitive impairment of various causes. This study successfully generalised the validity of HK-MoCA for identifying MCI and dementia in Chinese older adults, and determined the optimal cutoff points of these conditions. The optimal cutoff points yielded were similar to those in previous studies in China8 10 and Korea7 using the same descended educational adjustment. The HK-MoCA is useful for detecting persons with cognitive impairment in Chinese older adult population and a score of below 22 should prompt detailed diagnostic investigations. The results demonstrated good intra-rater and inter-rater reliability and internal consistency. It showed good convergent validity with CMMSE and GDS scores as well. Besides, the study investigated the effect of education on this cognitive screening instrument with respect to the low education level of Chinese older adults and employed a descended education adjustment from 12 to 6 years of education. This descended education adjustment is supported by studies conducted in China8 and Korea.7

There were several limitations to the HK-MoCA. This instrument required the participants to follow verbal and written commands, hence the performance of elderly with hearing or visual impairment would be affected. Illiterate or poorly educated persons might have difficulty in comprehending the instructions and the cube and clock drawing tasks were too difficult. Furthermore, stroke patients whose dominant hand has been affected might not be able to perform the drawing test.

In this study, subjects were recruited from a local general hospital situated in a lower social class residential area. Three quarters of the participants received primary education or less. The descended education adjustment from 12 to 6 years of education should be subject to review with respect to the trend of education received by older adults. Besides, short break between CMMSE and HK-MoCA administration might not totally relieve the fatigue error. One might argue that geriatricians and psychogeriatricians in this study were not blinded from the HK-MoCA, CMMSE and GDS scores, which might have introduced bias when they made the final cognitive diagnosis. Furthermore, inter-rater reliability established using convenience sampling of 20 participants being tested 2 to 4 weeks apart was not an optimal way to determine the concordance between the two co-investigators. Last but not the least, the predictive values could not be ascertained in this study as the patient groups and NC were not recruited consecutively from a designated population, leaving the true prevalence unknown. Further study can explore the ability of HK-MoCA to grade the severity of cognitive impairment and predict long-term cognitive decline.

This study validated that HK-MoCA is a sensitive screening instrument for use in Chinese older adults in Hong Kong with MCI or dementia, irrespective of the underlying aetiology. This validated HK-MoCA is brief and feasible to conduct in the clinical setting, and can be completed in less than 15 minutes. It is an attractive alternative screening instrument to MMSE which has ceiling effect and needs to be purchased due to copyright issues. A score of less than 22 should prompt further diagnostic assessment.

The authors thank Dr Ziad S Nasreddine for his permission to use the Hong Kong version of Montreal Cognitive Assessment test.

No conflicts of interest were declared by authors.

1. Lam LC, Tam CW, Lui VW, et al. Prevalence of very mild and mild dementia in community-dwelling older Chinese people in Hong Kong. Int Psychogeriatr 2008;20:135-48. CrossRef

2. Damian AM, Jacobson SA, Hentz JG, et al. The Montreal Cognitive Assessment and the mini-mental state examination as screening instruments for cognitive impairment: item analyses and threshold scores. Dement Geriatr Cogn Disord 2011;31:126-31. CrossRef

3. Folstein MF, Folstein SE, McHugh PR. “Mini-mental state”. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-98. CrossRef

4. Chiu HF, Lee HC, Chung WS, Kwong PK. Reliability and validity of the Cantonese version of mini-mental state examination—a preliminary study. J Hong Kong Col Psychiatrists 1994;4:25-8.

5. Nasreddine ZS, Phillips NA, Bédirian V, et al. The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc 2005;53:695-9. CrossRef

6. Petersen RC, Smith GE, Waring SC, Ivnik RJ, Tangalos EG, Kokmen E. Mild cognitive impairment: clinical characterization and outcome. Arch Neurol 1999;56:303-8. CrossRef

7. Lee JY, Lee DW, Cho SJ, et al. Brief screening for mild cognitive impairment in elderly outpatient clinic: validation of the Korean version of the Montreal Cognitive Assessment. J Geriatr Psychiatry Neurol 2008;21:104-10. CrossRef

8. Wang YP, Xu GL, Yang SQ, Liu XM, Deng XY. Value of Montreal Cognitive Assessment in identifying patients with mild vascular cognitive impairment after first stroke. Chinese Journal of Neuromedicine 2010;9:503-7.

9. Reisberg B, Ferris SH, de Leon MJ, Crook T. The Global Deterioration Scale for assessment of primary degenerative dementia. Am J Psychiatry 1982;139:1136-9.

10. Tu QY, Jin H, Ding BR, et al. Reliability, validity, and optimal cutoff score of the Montreal Cognitive Assessment (Changsha version) in ischemic cerebrovascular disease patients of Hunan Province, China. Dement Geriatr Cogn Dis Extra 2013;3:25-36. CrossRef

11. Rahman TT, El Gaafary MM. Montreal Cognitive Assessment Arabic version: reliability and validity prevalence of mild cognitive impairment among elderly attending geriatric clubs in Cairo. Geriatr Gerontol Int 2009;9:54-61. CrossRef

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13. Wong A, Xiong YY, Kwan PW, et al. The validity, reliability and clinical utility of the Hong Kong Montreal Cognitive Assessment (HK-MoCA) in patients with cerebral small vessel disease. Dement Geriatr Cogn Disord 2009;28:81-7. CrossRef

14. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th ed. Washington, DC: American Psychiatric Association; 1994.

15. Elderly Commission: Prevalence of dementia in Hong Kong, 2006. Available from: http://www.elderlycommission.gov.hk/en/meeting/47.html. Accessed Jun 2011.

16. Wong A, Kwan P, Chan AY, et al. The validity, reliability and utility of the Cantonese Montreal Cognitive Assessment (MoCA) in Chinese patients with confluent white matter lesions. Hong Kong Med J 2008;14(Suppl 6):7S.

17. Chan AS, Choi A, Chiu H, Lam L. Clinical validity of the Chinese version of Mattis Dementia Rating Scale in differentiating dementia of Alzheimer’s type in Hong Kong. J Int Neuropsychol Soc 2003;9:45-55. CrossRef

Skin complaints are common in both community-based and hospital paediatric practices. The range of skin problems is diverse, including categories like inflammatory conditions (eg eczema, psoriasis), birthmarks (eg haemangiomas, port-wine stains, melanocytic naevi), infectious skin diseases, and hair and nail problems.

In many situations, the clinical diagnosis of paediatric skin problems is straightforward but masquerading conditions also exist.1 2 Although histopathological examination can confirm the clinical diagnosis, skin biopsy in young children may require special arrangements such as sedation. In recent years, the gap between clinical and histopathological examination of skin lesions has been filled by various skin imaging modalities.3 4 As a simple, quick,5 non-invasive clinical technique, dermoscopy has gained popularity in the examination of skin in western countries.6 7 Dermoscopy refers to the examination of skin with a handheld device to reveal surface and subsurface skin structures. This is achieved by an optical system to magnify, illuminate, and remove light flare and reflection from the skin surface. It provides the link between eyeball clinical inspection and histopathological examination. With more than 1500 articles published after its introduction in 1980s, dermoscopy has been established as a routine skin examination technique in many western countries.8 As dermoscopy is extremely useful in the diagnosis of malignant melanoma9 and is able to reduce the need for skin biopsy,10 11 it is most widely used in the management of pigmented skin lesions. Recently, dermoscopic features of a wide range of non-pigmented skin problems have also been reported.12 13 With the uncovering of more dermoscopic features, dermoscopy has gained importance in the diagnosis of skin lesions, and its benefits in educating medical students and use in family practice have also been published recently.14 15 16

Medical researches on dermoscopy in Chinese populations, however, have rarely been published.17 18 19 With the understanding that ethnicity may affect dermoscopic findings,20 the aim of this study was to identify dermoscopic features in Chinese children and assess if those are in line with internationally published features.

The clinical use and research on dermoscopy in children worldwide had been limited by both patient factors and equipment factors. Camera-mounted dermoscope required lengthy setup and was not user-friendly in busy clinics. In addition, babies and young children might not stay still during the examination. To ensure an efficient dermoscopic examination and a good-quality dermoscopy image capture, a novel device developed by the biomedical engineering team of the Hong Kong Productivity Council was applied. This study evaluated the dermoscopic features of common skin problems in Chinese children using the dermoscopy image database established with the dermoscope.

A retrospective analysis of the dermoscopic features of skin lesions of Chinese children (aged 0-18 years) was performed. The study was approved by the local Research Ethics Committee and conducted at the Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, using the dermoscopic image database from 1 May 2013 to 31 October 2013, which contained only cases with symptoms and signs classical for their respective clinical diagnoses. These images were examined by a paediatrician trained in dermoscopy. A two-step algorithm was used to assess dermoscopy images with the first step aiming at differentiating melanocytic from non-melanocytic lesions and the second step on specific pattern analysis. The results of the analysis were categorised according to the clinical diagnoses.

Literature search of the MEDLINE database was performed to identify specific dermoscopic features for each clinical diagnosis. The key words used in the literature search were “dermoscopy, dermatoscopy, dermoscope, dermatoscope”. Key words specific to individual clinical diagnosis were used to facilitate the search. It was then assessed if the dermoscopic features of this study corresponded with those from published medical literature.

During the study period, all dermoscopy images were captured by the novel Hong Kong–made dermoscope. It was an all-in-one pocket-size autofocusing polarised digital dermoscope with Wi-Fi and USB connectivity capable of capturing dermoscopy image of all ages including young infants within 5 seconds (Fig). An extensible optic barrel was hinged on the body of the dermoscope so that both gross photos and 10-times magnified dermoscopy photos could be taken. The images were then uploaded to a computerised dermoscopy image database.

Dermoscopic images of 185 Chinese children (86 boys and 99 girls) suffering from 22 skin conditions were retrieved. The mean age of these children was 5.2 years (range, 2 days to 17 years). The top 12 diagnoses reported (in descending order of frequency) were port-wine stain (n=42), melanocytic naevus (n=41), haemangioma (n=30), café-au-lait macule (CALM; n=15), sebaceous naevus (n=8), viral wart (n=7), atopic dermatitis (n=6), alopecia areata (n=5), cutis aplasia (n=5), psoriasis (n=4), scabies (n=3), and molluscum contagiosum (n=3).

The dermoscopic features of these 12 diagnoses were further analysed. They were grouped into four main disease categories: birthmarks (pigmentary and vascular), infections, hair problems, and inflammatory dermatoses. Forty-two dermoscopic features were identified (Table 1).

In the pigmentary birthmark category, there were 41 children with 51 melanocytic naevi (mean age, 7.3 years). The most common dermoscopic pattern of melanocytic naevus was mixed, followed by globular, homogeneous, and reticular. In the mixed pattern naevi, globular-homogeneous was the commonest (n=13), followed by globular-reticular-homogeneous (n=6), reticular-homogeneous (n=4), and globular-reticular (n=3). There were 15 children with CALM (mean age, 3.5 years). All 10 children with facial CALM showed a homogeneous brown patch with perifollicular hypopigmentation. The five children with CALM on neck showed a reticular pattern.

In the vascular birthmark category, there were 42 children with port-wine stains (mean age, 6.5 years) and 30 infants with infantile haemangiomas (mean age, 6 months). For those with port-wine stains, both globular (n=4) and reticular (n=9) vascular patterns were identified but the most common dermoscopic pattern was mixed pattern (n=29) with both globular and reticular components. Among the 30 infantile haemangiomas, 25 had vessels of various morphologies, and red lacunae were noted in 24. None of the haemangiomas had melanocytic pattern.

In the infectious diseases category, there were seven children with viral warts on hands or feet (mean age, 10.5 years). Thrombosed capillaries presented as black-to-red dots, and papilliform surfaces and interrupted skin lines were identified in all cases. All three children with molluscum contagiosum (mean age, 5 years) showed orifices but vessels and specific vascular patterns could be found in only one case. In the three cases of scabies (mean age, 12.5 years), triangular head, transparent body, and burrows were present.

Patients with patchy alopecia were identified in the hair category. Eight patients had sebaceous naevus (mean age, 8.4 years), with four having yellow dots not associated with hair follicles, three having yellow lobules displacing blood vessels, and one having sebaceous hyperplasia. In the five patients with alopecia areata (mean age, 12 years), dermoscopic features including yellow dots (n=2), black dots (n=2), short vellus hair (n=4), broken hair (n=4), and micro-exclamation mark hair (n=3) were noted. Five patients with cutis aplasia (mean age, 3 years) were featured by a complete lack of skin appendages (n=5) and translucent appearance (n=4).

There were six patients with atopic dermatitis (mean age, 6.5 years) and four patients with psoriasis (mean age, 11 years) in the inflammatory dermatoses category. Atopic eczema was featured by structureless erythema (n=6), scales (n=6), and patchy dotted vessels (n=4) while the psoriasis patients had light red background (n=4), diffuse white scales (n=3), regular dotted vessels (n=4), and glomerular vessels (n=2).

Our study documented the dermoscopic findings of common paediatric skin conditions in Chinese children. In the analysis of the dermoscopy images using a two-step algorithm, the first step was differentiation between melanocytic and non-melanocytic lesions. This study identified typical melanocytic patterns (globular and reticular pattern21) in melanocytic naevi, and absence of melanocytic patterns in all haemangiomas. This two-step algorithm analysis of skin lesions confirmed the findings on clinical inspection and provided a standard approach to dermoscopic examination even in difficult cases.

Birthmarks are very common in children. Salmon patches occur in half of the neonates22 23 and infantile haemangiomas in one tenth of premature babies, while the prevalence of capillary malformations (port-wine stain) has been reported to be 0.3% to 2.1%.24 25 Within the vascular birthmark category, both port-wine stains and haemangiomas could present as neonatal erythematous patches. As lacunae pattern was commonly identified in haemangiomas but not in port-wine stains, it may serve to differentiate haemangiomas from port-wine stains. An early diagnosis of haemangiomas facilitates timely management as some may rapidly proliferate or develop complications in the first few months of life. In our series, the majority of the port-wine stain lesions showed a mixed pattern with both globular and reticular components (n=29/42) while reticular (n=9/42) and globular (n=4/42) patterns were less common. The ectatic capillary plexus was situated deeper in the dermis in those with a reticular pattern than those with a globular pattern; this difference may have treatment and prognostic implications on response to laser treatment.13 As such, laser treatment strategy aiming at the deeper dermal layer would be required to improve treatment results.

In the pigmentary birthmark category, both congenital and acquired melanocytic naevi were included. The common dermoscopic patterns of globular, reticular, homogeneous, and mixed reported in our series were in line with those reported in the western medical literature.26 27 28 29 As dermoscopy improves the detection of melanomas,30 its use was suggested in the monitoring of congenital melanocytic naevi (CMN), especially the smaller CMN.31 32 33 Sequential digital dermoscopy imaging can also reduce the unnecessary excision of suspicious pigmented skin lesions.34 This has been emphasised in children with epidermolysis bullosa who are at risk of developing skin cancers, and in whom overtreatment of the fragile skin should be avoided.35

This is the first report of dermoscopic features of CALM in medical literature. It was noted that the dermoscopic patterns of CALM might vary according to the location on the body. All the 10 cases of facial CALM showed homogeneous brown patches with perifollicular hypopigmentation while the five cases of CALM on the neck had a faint brown reticular pattern. As it may be difficult to differentiate CALM from CMN in infancy by inspection,36 dermoscopy provides a quick and non-invasive diagnostic tool to guide subsequent management.

In the infectious disease category, all viral warts were on the hands or feet, and all of them showed the classical features of thrombosed capillaries present as black-to-red dots and globules on papilliform surfaces with interrupted skin lines. These findings were consistent with features reported in the medical literature.37 The confirmation of the diagnosis of viral wart before initiating treatment is important because acral melanoma, which is more common in Chinese, has been reported to be misdiagnosed as viral wart with disastrous consequences.38 39 40 Moreover, dermoscopy could help guide treatment by identifying residual warty structures or confirming complete resolution of warts.37

In our series, there were three children with scabies who had either the classical dermoscopic sign of ‘triangular structure’41 or the round bodies42 43 of the scabies mite. The “z”- or “s”-shaped burrows were also well depicted on dermoscopy in two of them. Dermoscopy is a simple, accurate, and rapid44 technique for diagnosing scabies even in inexperienced hands.45 In a study involving 756 patients, dermoscopic examination for scabies was found to be 91% sensitive and 86% specific.45 It greatly enhances treatment decisions45 and allows fast introduction of proper treatment.42 Diagnosing scabies in children by dermoscopy is child-friendly as it requires no skin scrappings, thus, causing no fear or pain.42 In addition, demonstration of scabies mite to patient may foster treatment adherence in both patients and asymptomatic family members.44

Molluscum contagiosum is a common skin infection in children46 and is highly contagious47 with outbreaks reported.48 In our three children with molluscum contagiosum, the reported dermoscopic features included orifices with amorphous white centre and polylobular appearance surrounded by vessels.49 50 When the typical clinical features of molluscum contagiosum are not apparent, dermoscopy can be helpful for diagnosis.51

Three common causes of patchy alopecia in children were reported in this study. For neonates or infants with congenital patchy alopecia, the differentiation between sebaceous naevus and cutis aplasia may be difficult.52 In our study, the dermoscopic features of sebaceous naevi with yellow dots unassociated with hair follicles, sebaceous hyperplasia, and yellow lobules displacing blood vessels53 were demonstrated. On the other hand, cutis aplasia showed a complete lack of skin appendages and skin translucency.52 While no specific treatment is usually needed for cutis aplasia, surgical excision of sebaceous naevi is often advised with its potential for developing into basal cell carcinoma.54

The lifetime risk of alopecia areata in the general population is approximately 1.7% and as many as 60% of patients with alopecia areata have disease onset before 20 years of age.55 The clinical features of hair loss vary with clinical subtypes.56 In our series of five children with alopecia areata, black dots, yellow dots, short vellus hair, broken hair, and micro-exclamation mark hairs were noted. These dermoscopic features may be useful clinical indicators in alopecia areata which have both diagnostic and prognostic values.57 58

Concerning the inflammatory dermatoses category, clinical similarities exist between atopic dermatitis and psoriasis as both are chronic pruritic scaly erythematous skin conditions. It is known that characteristic dermoscopic vascular patterns facilitate differentiation of psoriasis from atopic dermatitis.59 In our study, the patchy dotted vessels60 and linear vessels of atopic dermatitis could be differentiated from the red globular rings61 and glomerular vessels62 of psoriasis.

The clinical significance of dermoscopy in children’s skin conditions is summarised in Table 2.

Although various dermoscopic features of skin problems could be identified in this study, it had several limitations. First, the dermoscopy database only contained images captured during routine clinical service when the clinical features were classical of their respective diagnosis. As such, the database was not representative of all common skin problems in children. In addition, with the small case numbers for some of the diseases such as atopic dermatitis and psoriasis, further research is required to confirm our preliminary findings. Moreover, features of skin diseases in children are age-dependent and phase-dependent but these factors were not evaluated in the present study.

Dermoscopy is a well-established skin examination tool with known dermoscopic features for many diagnoses. Our study confirmed that the dermoscopic features reported in the medical literature could be identified in Chinese children. While the value of dermoscopy in diagnostic, prognostic, and disease monitoring is being unveiled, further studies are required to understand its role in various paediatric skin diseases.

We would like to thank Ms Carol YB Liu and Mr Bryan MK So of Hong Kong Productivity Council and Hong Kong Innovation and Technology Fund for the support on the dermoscopy device for this study.

David CK Luk acted as advisor to Hong Kong Productivity Council on the development of dermoscope prototype. No conflicts of interests were declared by authors.

1. Ng BC, San CY, Lau EY, Yu SC, Burd A. Multidisciplinary vascular malformations clinic in Hong Kong. Hong Kong Med J 2013;19:116-23.

2. Hon KL, Leung TF, Cheung HM, Chan PK. Neonatal herpes: what lessons to learn. Hong Kong Med J 2012;18:60-2.

3. Koehler MJ, Lange-Asschenfeldt S, Kaatz M. Non-invasive imaging techniques in the diagnosis of skin diseases. Expert Opin Med Diagn 2011;5:425-40. CrossRef

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16. Chen LL, Liebman TN, Soriano RP, Dusza SW, Halpern AC, Marghoob AA. One-year follow-up of dermoscopy education on the ability of medical students to detect skin cancer. Dermatology 2013;226:267-73. CrossRef

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19. Chan G, Ho H. A study of dermoscopic features of pigmented basal cell carcinoma in Hong Kong Chinese. Hong Kong J Dermatol Venereol 2008;16:189-96.

20. de Moura LH, Duque-Estrada B, Abraham LS, Barcaui CB, Sodre CT. Dermoscopy findings of alopecia areata in an African-American patient. J Dermatol Case Rep 2008;2:52-4. CrossRef

21. Fortina AB, Zattra E, Bernardini B, Alaibac M, Peserico A. Dermoscopic changes in melanocytic naevi in children during digital follow-up. Acta Derm Venereol 2012;92:427-9. CrossRef

22. Boon LM, Enjolras O, Mulliken JB. Vascular malformations. In: Irvine AD, Hoeger PH, Yan AC, editors. Harper’s textbook of pediatric dermatology. 3rd ed. Oxford: Wiley-Blackwell; 2011: 112.1-112.24. CrossRef

23. Leung AK, Barankin B, Hon KL. Persistent salmon patch on the forehead and glabellum in a Chinese adult. Case Rep Med 2014;2014:139174.

24. Jacobs AH, Walton RG. The incidence of birthmarks in the neonate. Pediatrics 1976;58:218-22.

25. Hidano A, Purwoko R, Jitsukawa K. Statistical survey of skin changes in Japanese neonates. Pediatr Dermatol 1986;3:140-4. CrossRef

26. Aguilera P, Puig S, Guilabert A, et al. Prevalence study of nevi in children from Barcelona. Dermoscopy, constitutional and environmental factors. Dermatology 2009;218:203-14. CrossRef

27. Belloni Fortina A, Zattra E, Romano I, Bernardini B, Alaibac M. Clinical and dermoscopic features of nevi in preschool children in Padua. Dermatology 2010;220:53; author reply 54. CrossRef

28. Scope A, Dusza SW, Marghoob AA, et al. Clinical and dermoscopic stability and volatility of melanocytic nevi in a population-based cohort of children in Framingham school system. J Invest Dermatol 2011;131:1615-21. CrossRef

29. Zalaudek I, Schmid K, Marghoob AA, et al. Frequency of dermoscopic nevus subtypes by age and body site: a cross-sectional study. Arch Dermatol 2011;147:663-70. CrossRef

30. Haliasos HC, Zalaudek I, Malvehy J, et al. Dermoscopy of benign and malignant neoplasms in the pediatric population. Semin Cutan Med Surg 2010;29:218-31. CrossRef

31. Nehal KS, Oliveria SA, Marghoob AA, et al. Use of and beliefs about dermoscopy in the management of patients with pigmented lesions: a survey of dermatology residency programmes in the United States. Melanoma Res 2002;12:601-5. CrossRef

32. Marghoob AA. Congenital melanocytic nevi. In: Marghoob AA, Malvehy J, Braun RP, editors. Atlas of dermoscopy. London: Informa Healthcare; 2012: 147-58.

33. Rocha CR, Grazziotin TC, Rey MC, Luzzatto L, Bonamigo RR. Congenital agminated melanocytic nevus—case report. An Bras Dermatol 2013;88(6 Suppl 1):170-2. CrossRef

34. Gulia A, Massone C. Advances in dermoscopy for detecting melanocytic lesions. F1000 Med Rep 2012;4:11.

35. de Queiroz Fuscaldi LA, Buçard AM, Alvarez CD, Barcaui CB. Epidermolysis bullosa nevi: report of a case and review of the literature. Case Rep Dermatol 2011;3:235-9. CrossRef

36. Bishop JA. Melanocytic naevi and melanoma. In: Irvine AD, Hoeger PH, Yan AC, editors. Harper’s textbook of pediatric dermatology. 3rd ed. Oxford: Wiley-Blackwell; 2011: 109.1-109.28. CrossRef

37. Bae JM, Kang H, Kim HO, Park YM. Differential diagnosis of plantar wart from corn, callus and healed wart with the aid of dermoscopy. Br J Dermatol 2009;160:220-2. CrossRef

38. Dalmau J, Abellaneda C, Puig S, Zaballos P, Malvehy J. Acral melanoma simulating warts: dermoscopic clues to prevent missing a melanoma. Dermatol Surg 2006;32:1072-8. CrossRef

39. Rosen T. Acral lentiginous melanoma misdiagnosed as verruca plantaris: a case report. Dermatol Online J 2006;12:3.

40. Burd A, Bhat S. An update on the management of cutaneous melanoma. Hong Kong J Dermatol Venereol 2008;16:143-8.

41. Prins C, Stucki L, French L, Saurat JH, Braun RP. Dermoscopy for the in vivo detection of sarcoptes scabiei. Dermatology 2004;208:241-3. CrossRef

42. Kamińska-Winciorek G. Entomodermoscopy in scabies—is it a safe and friendly screening test for scabies in children? Acta Dermatovenerol Croat 2012;20:117-9.

43. Executive Committee of Guideline for the Diagnosis, Ishii N. Guideline for the diagnosis and treatment of scabies in Japan (second edition). J Dermatol 2008;35:378-93.

44. Fox G. Diagnosis of scabies by dermoscopy. BMJ Case Rep 2009;2009.

45. Dupuy A, Dehen L, Bourrat E, et al. Accuracy of standard dermoscopy for diagnosing scabies. J Am Acad Dermatol 2007;56:53-62. CrossRef

46. Netchiporouk E, Cohen BA. Recognizing and managing eczematous id reactions to molluscum contagiosum virus in children. Pediatrics 2012;129:e1072-5. CrossRef

47. Marsal JR, Cruz I, Teixido C, et al. Efficacy and tolerance of the topical application of potassium hydroxide (10% and 15%) in the treatment of molluscum contagiosum: randomized clinical trial: research protocol. BMC Infect Dis 2011;11:278. CrossRef

48. Oren B, Wende SO. An outbreak of molluscum contagiosum in a kibbutz. Infection 1991;19:159-61. CrossRef

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50. Morales A, Puig S, Malvehy J, Zaballos P. Dermoscopy of molluscum contagiosum. Arch Dermatol 2005;141:1644. CrossRef

51. Mun JH, Ko HC, Kim BS, Kim MB. Dermoscopy of giant molluscum contagiosum. J Am Acad Dermatol 2013;69: e287-8. CrossRef

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53. Kim NH, Zell DS, Kolm I, Oliviero M, Rabinovitz HS. The dermoscopic differential diagnosis of yellow lobularlike structures. Arch Dermatol 2008;144:962. CrossRef

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders representing, by far, the most common disorder of sex development for XX karyotype.1 2 The condition is characterised by impaired cortisol synthesis; the most frequent defect—present in approximately 95% of the patients—is 21-hydroxylase deficiency. The enzyme deficiency leads to a block in cortisol synthesis followed by a build-up of cortisol precursors which, in turn, are diverted to androgen synthesis.1 The increased androgen concentration triggers a variable degree of virilisation in female newborns. Approximately 75% of patients with this classic form of CAH have an additional mineralocorticoid deficiency leading to salt-wasting, failure to thrive or even hypovolaemic shock.1 Mild forms of CAH present, typically, later in life with a variable degree of increased androgen excess.

We present the outcome of a cohort of Asian individuals with genital ambiguity secondary to 21-hydroxylase deficiency. The emphasis is on presentation, surgery performed, and the anatomical and cosmetic outcomes.

This was a retrospective review of demographics and presentation of patients with CAH secondary to 21-hydroxylase deficiency who were managed by a multidisciplinary team at our tertiary referral centre between 1993 and 2012.

Generally, surgery is considered at the age of 12 to 24 months as a one-stage feminising genitoplasty; clitoral reduction plus further corrective surgery is performed depending on the intra-operative findings. This could range from a labiaplasty to flap vaginoplasty or modified Passerini procedure.3 4 5

Following the initial healing phase, dilatation of the vagina is recommended according to our protocol until the tissue is supple, usually after a few months. At the time of puberty, the vagina is again assessed and dilatations are recommended, as necessary, by the gynaecologist. Highly motivated patients achieve an appropriate-sized vagina with daily dilatations within a couple of months or even weeks.

The operative treatment was planned as a one-stage procedure at our institution. The results of this cohort were assessed as part of the ongoing review in the out-patient setting in 2012/13. A scoring system (1-3) established previously was used for four areas: appearance of the clitoris, labia and vagina, plus requirement for revision surgery.6 7

The criteria for scoring each were as follows: 1—designated for a near-normal appearance, 2—only a medically trained person would be able to see the result of an intervention, and 3—other appearances.6 7 The necessity for revision surgery constituted the fourth factor in the evaluation: score of 1 for no revision, 2 for minor revision, and 3 for a major revision. Overall marks of 4 points were classified as ‘good’, marks of 5 to 9 points ‘satisfactory’, and marks from 10 to 12 points ‘unsatisfactory’ (Table 1).

Twenty-three females with 21-hydroxylase deficiency and a median age of 17.5 (range, 1.5-33.8) years timed on 31 December 2012 were identified.

Seventeen patients presented in the neonatal period and early infancy, of which four had an additional salt-losing crisis. Six patients were late presenters at a median age of 2 (range, 0.5-14) years. Four of these were migrants from mainland China diagnosed at the age of 1, 3, 8, and 14 years, respectively. The diagnosis was established by identifying increased levels of 17-hydroxyprogesterone.

The sex of rearing in the group of neonates was decided in consultation between the parents, paediatric endocrinologists, and paediatric urologists. All patients, including the late presenters, persisted with the female gender assigned at birth. Twenty-two patients had corrective surgery at a median age of 2 (range, 1-14) years. Clitoral reduction was performed in all 22, and further surgery in 21 patients. The additional surgery consisted of flap vaginoplasty in 10 patients, modified Passerini procedure in six, and labial reconstruction in five. One patient with prominent clitoris and otherwise normal appearance of the vaginal and urethral opening is currently for observation only (Fig).

Eighteen individuals with a median age of 20 (range, 9.3-33.8) years were part of the outcome evaluation in 2012/13. The other five patients below the age of 5 years were considered too young for a meaningful assessment. At the time of diagnosing CAH, all 18 patients had an enlarged clitoris; separate openings for vagina and urethra were seen in six individuals, low (intrasphincteric) confluence in six, and high (suprasphincteric) confluence in other six individuals. Table 2 summarises the results in accordance with the initial anatomical findings—high confluence, low confluence, and separate openings for vagina and urethra. Minor revision surgery (eg mucosal trimming) was required in three patients. A ‘good’ outcome was seen in 12 patients and ‘satisfactory’ result in five; one required a revision vaginoplasty (Table 2).

On follow-up, it was noted that all patients older than 12 years (n=15) experienced menarche without any obstruction of menstrual blood flow; 13 individuals had regular cycles; one had her cycle supported by medication, and one patient started menstruating in the last 6 months, but her cycles remained irregular.

Two women have given birth by caesarean section. Both women have two healthy children each, following successive pregnancies. They delivered successfully by caesarean section as recommended by the multidisciplinary team.8 A third woman is currently pregnant.

A systematic interview including a psychological evaluation was not part of this review, but a tendency to more masculine behaviour traits within this cohort of women was a persistent observation by clinical staff.

The majority of this cohort of individuals—nearly three quarters—presented as classic virilising CAH, of which four experienced an additional salt-wasting crisis.1 The proportion of individuals affected by aldosterone deficiency causing salt-losing CAH was less than 25%. It is generally expected for 50% to 75% of the patients with the classical form to have a sufficiently high mineralocorticoid deficit to provoke a salt-losing crisis.1 9 We have no explanation for why this group of Asian individuals had such a low rate of salt-losing crisis.

Just over a quarter of this cohort were late presenters, which is higher than the expected 10% to 20% late presenters described in a large case series.2 It appears that four of these patients arrived as migrants from mainland China, explaining the slightly large number of late presentations.

The female gender assigned at birth was maintained by all individuals. This finding confirms our current knowledge on 21-hydroxylase deficiency insofar as only a small minority of CAH patients experience gender dysphoria.2 10 It may well be possible that some individuals in this cohort suffered from gender issues, but a detailed interview or questionnaire on this topic was not part of our evaluation. A review of 250 patients identified only 5.2% suffering from gender identity problems.10

In the recent past, the concept of surgery at an early age for this group of patients has been criticised.7 9 However, there has been an inclination to summarise data of patients with a highly variable background, who were operated on by a number of different groups.11 It is now recognised that CAH patients should be managed by a multidisciplinary team in designated centres and the corrective surgery may be undertaken at an early age.1 12 13

Once a decision has been reached regarding the sex of rearing by the medical team and the parents/legal guardian, corrective surgery can be planned. Clearly, if the clinical findings are favourable to divert surgical intervention—as illustrated in one of our patients—only regular review may be required (Fig). Nevertheless, it is our impression that there is a cultural need to decide on the sex of rearing at an early age, as it helps to reduce the anxiety and anguish for the family.

There is now even a tendency among practitioners in this field to perform corrective surgery in the first few months of life.14 It appears that the tissue planes are easier to develop whilst the baby is still under the influence of maternal oestrogen effects.14

In our institution, the surgery is usually performed in the first or second year of life. However, four patients came to our attention late as a result of their migration to Hong Kong. This explains the small number of individuals in our cohort who had their respective surgery later in life or even as teenagers.

‘Good’ or ‘satisfactory’ results were identified in nearly all patients in this cohort (Table 2). Other investigators have demonstrated similar results.3 4 As identified by van der Zwan et al,15 there is a trend for a less satisfactory outcome in patients with high confluence. This confirms our impression that finding high confluence poses a more difficult challenge for the operative correction.

In our evaluation, we did not systematically analyse behaviour traits or perform a psychological assessment, albeit a more boyish or masculine behaviour pattern was apparent in our cohort. Detailed studies on this aspect of individuals with CAH confirm this observation.16 17

All individuals sufficiently old enough to have menses (n=15) developed a regular cycle; only two had cycle irregularities or required medication to support the cycle. Two patients have given birth; elective caesarean section is recommended after feminising genitoplasty to avoid damage to the reconstruction; in addition, a more android pelvic structure may result in cephalo-pelvic disproportion.8 More detailed studies on fertility and pregnancy conclude a reduced pregnancy and delivery rate in women with CAH.18

Our evaluation had some limitations. Our cohort encompassed an age-group spanning three decades. In particular, our cohort of patients did not undergo a detailed interview process; these offers were often declined or individuals voiced considerable reservation to participate. Nevertheless, this review represents the largest experience, to date, with surgical management and the outcomes of CAH in Asian women.

Nearly three quarters of our cohort presented as classic virilising form of 21-hydroxylase deficiency. Less than a quarter of the classic presentation experienced an additional salt-losing crisis in this cohort. Female gender assignment at birth was maintained for all individuals in this group. A ‘good’ and ‘satisfactory’ outcome of surgery was reported in nearly all patients.

We acknowledge the contributions by the Consultant Gynaecologist, Dr Ka-wah Yiu, in the care of these individuals.

Parents of children with developmental difficulties face many challenges with child handling and coping with school. In helping these children, the needs of their caretakers should not be ignored. Besides, better understanding of the needs of their parents could shed light on the desired direction of general service planning, and enable optimal use of our resources. The formulation of service needs in collaboration with parents instead of only by the health care professionals helps to facilitate efficient family support implementation. This can also serve as pre-intervention measurement for reliable outcome evaluation.1 Child Assessment Service (CAS) of the Department of Health comprises multidisciplinary professionals and provides comprehensive developmental assessment and rehabilitation prescriptions to children with developmental and behavioural problems in Hong Kong. Recently, CAS developed a Service Needs Questionnaire (SNQ) to examine the needs of parents of children with learning and behavioural problems including dyslexia and attention-deficit hyperactivity disorder (ADHD). The scale has undergone formal procedures of scale validation and standardisation, and can be used as a reliable tool for mapping the needs of parents with children with different developmental disabilities.2

Although many studies have investigated service needs of disabled children,3 4 5 few have attempted to investigate service needs of children with visual impairment (VI) and their families. The parents’ perceived needs based on ethnicity, and the degree of vision loss in toddlers from Latino and Anglo backgrounds were reported based on qualitative description. The future of their children was the universal concern among parents. Other concerns were household finances, adequacy of services, and the impact on siblings. The perceived insensitivity and lack of information from professionals were sources of difficulty and frustration.6 On studying the perspective of parents of children with VI, it was noted that many experienced difficulties, frustration, and concerns about the child’s future; there was also lack of helpful information, social isolation, and inadequate support from school and community.7 Parents of children newly diagnosed with VI and/or ophthalmic disorders in a tertiary level centre had a tendency to identify information as their greatest need, almost irrespective of the amount or type actually provided.8

In the local setting, there are limited needs analysis studies on disabled children, and none targeted towards children with VI in mainstream schools. In Guangzhou, however, focus group interviews were conducted in a qualitative study to elicit the experiences of 23 Chinese parents in caring for their children with developmental disability who were residents of the Mental Retardation Unit in a Maternal and Children Hospital. Five categories of needs were identified: parental, informational, attitude towards the child, coping, and support.9

In Hong Kong, the Education Bureau encourages students with diverse learning needs to receive appropriate education alongside their peers so as to help them develop their potential. While special schools cater for children with significant developmental disabilities, children with milder developmental disabilities are integrated into mainstream schools. In mainstream schools, students have diverse special education needs (SEN). Most have learning and behavioural problems, and few have physical and/or sensory problems. This study is the first local attempt to use a validated and standardised psychometric tool to identify the specific needs of parents of children with VI studying in mainstream schools. The study also attempted to examine if their needs are different from those of parents of children without SEN studying in mainstream schools and parents of children with learning and behavioural problems. Better understanding of the parental needs will help in planning for future service and support for these children and their families.

Child Assessment Service of the Department of Health provides comprehensive assessment, rehabilitation prescriptions, and management services to children and families in Hong Kong. In 2012, the number of referrals served by CAS was 8773 with children aged below 10 years accounting for 98.4% of the referrals (written communication, CAS, 2013). The number of children aged below 10 years was estimated to be 252 100 in Hong Kong in 2012.10 Between 2006 and 2010, the number of newly diagnosed visually impaired children in CAS ranged from 28 to 37 every year.11

Parents of 30 children with VI who were studying in mainstream schools and who underwent assessment by optometrists at CAS between May 2009 and June 2010 were recruited to participate in the study (VI group). The parents were asked to reply once for each child. The purpose of the study was clearly explained, and a consent form was signed by each respondent. All 30 consented to participate, but four failed to complete the questionnaire. The analysis reported in this study was therefore based on data from 26 participants who completed the SNQ. The degree of VI ranged from mild low vision to severe low vision, according to the definition for the provision of various rehabilitation services by the Hong Kong Government.12 The visual acuity for mild low vision was defined as from 6/18 to better than 6/60, moderate low vision was from 6/60 to better than 6/120, and severe low vision was 6/120 or worse in the better eye.

Parents of children with learning and behavioural problems were recruited from two local parent support groups (LB group). Parent support group is a self-help organisation which serves the common interests of parents having children with same or similar disability or disease. Behavioural and learning problems are the major SEN concern in mainstream schools. In Hong Kong, there are a number of parent support groups for parents having children with learning and behavioural problems. Two parent support groups, the Hong Kong Association for AD/HD and the Hong Kong Association for Specific Learning Disabilities, were invited to participate in this study as apparently they have the biggest membership and the longest history in serving children with such developmental problems and disability. All parents attending their annual meetings were invited to participate on a voluntary basis, and 45 participated. A letter stating the purpose of the study was given and a consent form was signed by each respondent. The analysis reported in this study was based on the 43 participants who completed the SNQs. Despite the constraint of such convenience sampling, efforts have been paid to enhance the representativeness of the selected participants.

Anonymous raw data of parents of children attending mainstream primary schools (n=233) collected in Leung et al’s study for the development of SNQ was accessed and analysed.2 Three primary schools, one each from the territory’s administrative regions, were requested to randomly select 135 students to participate using a random number generator. The schools distributed the questionnaires to parents; 246 parents returned the questionnaires in sealed envelopes (response rate 60.7%) and 233 provided complete data. Among the 233 participants from the primary school group, 33 with reported behavioural/learning difficulties were excluded, and 200 were included in the comparison (normal group). Since SNQ was jointly developed by CAS and Leung et al,2 the research data were archived and shared between the two parties. Upon an agreement between CAS and Leung et al,2 the research data were retrieved and analysed by authors. Legitimacy of such arrangement was documented in the research protocol written for SNQ project. The data retrieved and being analysed for this study included SNQ scores and demographics of participants.

Participants of the VI group and LB group were asked to complete the SNQ and a questionnaire on the demographics of the children and their responding parents. The VI group was asked 12 additional questions about the children’s ability to cope and function in academic and recreational activities.

Service Needs Questionnaire had 27 items. It was sub-divided into two parts, and was self-administered by the informants. The first part consisted of eight items on personal and family stress. Participants rated each item on a 5-point scale from 1 (disagree very much) to 5 (agree very much). The second part consisted of 19 items on need for various services. Participants rated each item on a 5-point scale from 1 (do not endorse at all) to 5 (endorse a lot). This scale has been validated for use in Chinese parents.2 The areas of need which can be identified by SNQ included the need for school support, need for information, and need for support on family functioning.

This questionnaire was developed among Chinese families and it showed satisfactory psychometric properties.2 For validity, the SNQ total score (5 categories) correlated positively (correlation=0.55) with Parenting Stress Scale, and it could differentiate between parents of children diagnosed with learning/behavioural problems and those attending normal primary schools (t(336)=12.07; P<0.001; d=1.42). For internal consistency and reliability, the reported Cronbach’s alpha was 0.96 and intra-class correlation was 0.76, respectively. In Leung et al’s study,2 Rasch analysis was conducted to demonstrate the primary psychometric properties of SNQ. It was shown that SNQ measured a single construct need (ie unidimensionality); was able to distinguish strata of needs in children with developmental disabilities; had sufficient items to capture needs of children with developmental disabilities; and there was a meaningful item hierarchy. Construct validity and reliability of SNQ were also shown by additional analyses. As SNQ serves to describe needs of children with developmental disabilities, the reported psychometric properties were sufficient to serve this aim.

There were 12 additional questions designed to obtain some descriptive information from VI group on children’s functional needs, school coping, and difficulties encountered in academic and recreational activities. Participants were asked to report positive or negative answers regarding each question and requested to give examples if the answers were positive. Some examples of these questions were: “Which is the most difficult subject for you? Please state problems encountered, if any”; “Are there any problems encountered in recess or lunch time? If yes, please state the problem and the reason”.

Participants were requested to supply demographic information about themselves and their children.

The study was approved by the Ethics Committee of the Department of Health, Hong Kong SAR Government.

Descriptive statistics, frequency distribution, and means were used to examine the profiles of participants. Since Leung et al’s study2 showed difference among parents of children with learning and behavioural problems and those of normal children, our hypothesis was that there was a difference between the needs of parents of VI group and those of normal group. The data were examined before hypothesis testing so that appropriate statistical tests could be applied. Independent t test and one-way analysis of variance (ANOVA) were used to analyse the differences in means between two or more than two groups if the corresponding test assumptions were fulfilled. Otherwise, Kruskal-Wallis test was used to analyse the differences in mean rank for comparison of more than two groups. The statistical analyses were performed using the Statistical Package for the Social Sciences (Windows version 19.0; SPSS Inc, Chicago [IL], US).13 Statistical significance was set at P<0.05 (two-tailed).

The demographic characteristics of parents in the three groups were comparable. Compared with the normal group, a higher proportion of boys were noted in VI and LB groups and the mean age of children in LB and VI groups was slightly higher. The parents of LB group and VI group resided in Hong Kong for longer than those of the normal group. Fewer fathers of LB and VI groups were employed compared with those of normal group (Table 1).

Within the VI group, 26 participants with completed SNQ data were included in the analysis. The most common medical cause for VI was ocular or oculocutaneous albinism (n=10). Other causes included cataract (n=3), retinopathy of prematurity (n=2), aniridia (n=2), retinal dystrophy (n=2), septo-optic dysplasia (n=1), high refractive error (n=1), and intraventricular haemorrhage (n=1); investigation results were still pending for four cases.

Their cognitive abilities were mostly within the low average to high average range. One had mild mental retardation, two had limited intelligence, and one had superior intelligence. Regarding co-morbid developmental disabilities, 11 (42%) children in the VI group had one or more than one type of developmental disability apart from VI. One had mild-grade mental retardation, four had dyslexia/risk for dyslexia, two had ADHD, one had autistic spectrum disorder, two had mild hearing loss, and one had mild anxiety problem. There was no significant difference in SNQ total score between those with or without co-morbid conditions (t(24)= –0.6, P>0.05). The mean SNQ total scores for those with and without co-morbid conditions were 94.93 (95% confidence interval [CI], 80.34-109.53) and 100.73 (95% CI, 86.51-114.94), respectively. Among the 26 VI children, 18 had mild low vision and 8 had moderate-to-severe low vision. There was no significant difference between the two levels of VI in SNQ total score (t(24)= –1.425, P>0.05). The mean SNQ total score for those with mild low vision was 93.00 (95% CI, 79.55-106.45), and 107.25 (95% CI, 98.03-116.47) for those with moderate-to-severe low vision. Therefore, all 26 cases could be treated as a group for further analysis.

The internal consistency of SNQ (Cronbach’s alpha=0.96) measured in the VI group was similar to the magnitude reported in Leung et al’s study,2 despite the difference in the samples used.

Owing to non-normality of the SNQ total score by group, the Kruskal-Wallis one-way ANOVA by ranks was conducted to examine if the mean rank SNQ total scores among the three groups were the same. The Dunn-Bonferroni tests were further applied to locate where the differences existed if the mean rank SNQ total scores were not the same.

The Kruskal-Wallis test was significant (χ²(2)=80.928, P<0.001) inferring that the mean rank SNQ total scores were not the same among the three groups. The Dunn-Bonferroni tests showed that the mean rank SNQ total score of the normal group was significantly lower than that in VI group (z= –4.042, P<0.001) and LB group (z= –8.531, P<0.001), respectively. The mean rank SNQ total score of VI group was slightly lower than that of the LB group, but the difference was not significant (z= –2.380, P=0.052; Table 2). Each SNQ item was further analysed by conducting Kruskal-Wallis test to examine if there was a difference among the three groups. Bonferroni correction was applied to control the family-wise type I error predefined as 0.05. All SNQ items had significant differences among the three groups.

Eight of the top 10 needs were common to the three groups. In the VI group, three of the top five needs included education, services in supporting study, and school support. For most SNQ items, the VI group scored significantly higher than the normal group but similar to the LB group. For a few items such as “I need to learn how to deal with stress”, “I need emotional support”, and “Children affect the relationship between spouse”, the VI group scored significantly lower than the LB group but similar to the normal group. On the item “Spouse disagrees with me about fostering children”, the VI group had lower score compared with the normal group. The mean scores of each SNQ item are listed in Table 3.

Regarding coping in school and functioning in academic activities, most of the children with VI were receiving some form of school accommodation and support. The support included seating arrangement (n=25, 97%), enlargement of font size (n=18, 70%), assistance by peers in copying work and classroom activities (n=7, 27%), and use of visual aids and assistive devices (n=3,12%). Physical exercise and mathematics were reported as the most favourite subjects, while Chinese and English were the most difficult subjects for these children.

All children reported encountering difficulties during classroom activities; examples included difficulties with handwriting, reading, reading comprehension and memory, ball games, as well as cutting and pasting activities. Besides difficulties encountered during class, around one-fifth (n=5) reported encountering difficulties during recess or lunch time due to lack of friends and peers to play with and difficulties in attending outdoor activities.

Many (n=16, 62%) had joined some form of extra-curricular activities, both indoor and outdoor. Swimming, dancing, ping-pong ball, and drawing were some examples of their favourite activities. Some of the difficulties described were problems with sustaining the practice, visual motor coordination, communication with classmates, and classmates playing tricks on them. Around one-third (n=8) reported difficulties in leisure activities during school holidays, including the need for extra care in crowded areas, extra protection when exposed to sunlight, and some behavioural problems such as talking loudly and offending other children. A majority of them (n=20, 77%) did not join any self-help parent group as many did not feel the need, and most could not afford the time to join. Some descriptive answers on the difficulties encountered are listed in Table 4.

Vision is our major sense and children with VI face many challenges and obstacles. In this study, needs expressed by parents having children with VI were significantly higher than those of parents of mainstream school children without SEN. The top five needs expressed by parents of VI children are on need for information and services. In particular, these parents expressed the need for more information and services on future education and school support despite receiving some degree of accommodation at school. This may be related to the general phenomenon among parents in Hong Kong who predominantly focus on academic achievement versus recreational and leisure activities. Meanwhile, these parents might not be fully aware of the kind of support available at school. The implication is for us to work closely with the education sector to make the school support service more transparent for the parents. By maintaining necessary case monitoring, we could give continuous feedback to the school based on a child’s individual and changing needs.

Needs expressed by parents in the VI group were significantly higher than those in the normal group, but similar to those in the LB group. Children with VI, in addition to their unique obstacles in mainstream schools, also face some common difficulties of adapting and adjusting academically, socially, and behaviourally just like other children with SEN. Compared with parents of the normal group, parents of the VI group perceived more stress and, thus, more needs. Besides, nearly half the children in VI group had co-morbidities, including learning and behavioural problems. They might experience similar challenges at school leading to similar impact on their parents and families as those in the LB group. Despite the insignificant group difference between the VI and the LB groups, we noted that more parents from the LB group endorsed items related to stress, emotions, and effect on relationship with spouse from the item analysis. From this, it is believed that parents of the VI group might experience relatively less stress and turmoil resulting from children’s learning and behavioural challenge as compared with the LB group. As children with VI are often diagnosed at an early age, it is speculated that their parents might have better adjustment and more mutual support in caring for them.

There were some limitations in this study, including the small sample size. As compared to the other developmental disabilities, the incidence of VI was relatively low, affecting 0.1% of the school-age population and 0.4% of children with all developmental disabilities.14 In Hong Kong, most children with significant developmental disabilities, including those with severe low vision or blindness, receive education in special schools. Children with milder developmental disabilities, including those with mild-to-moderate low vision, are integrated in mainstream schools with support from teachers and special schools. According to the statistics provided by the Education Bureau, the total number of school children with VI attending mainstream primary schools was 40 in year 2006/07, 40 in 2007/08, and 50 in 2008/09. The 30 cases in this study were recruited from different regions of Hong Kong during the study period and this cohort, therefore, represents the majority of children with VI attending mainstream schools in Hong Kong.

On the other hand, the VI group was not a homogeneous group and nearly half had other co-morbid conditions, which are common among children with VI. The VI group with co-morbidities is expected to express greater needs. However, this was not observed in our study, probably due to the small sample size. The other limitation might be the possible self-selection bias in data collection. As voluntary participation was sought in the LB group, parents with high service needs might have been more eager to participate, leading to bias. The normal group was selected by convenience sampling, and the grade, age, and gender distributions of the sampled subjects in each school were not matched with those of all students in each school. This normal group might not represent all the mainstream primary schools.

Currently, the Education Bureau provides educational support for these children through school teachers, with resource help from special schools for VI children. Support includes assistive facilities and visual aids, accommodation in school activities and examination. It is encouraging to note that these children are enjoying a variety of extra-curricular activities despite the difficulties. Nonetheless, more facilitation of peer support and school integration is needed for these students both during classroom and extra-curricular activities. As most of these children should have needed visual aids and assistive devices to optimise their residual vision, the user rate noted was far below our expectation. More systematic work on education and training for parents will be needed to empower them with the knowledge and skills for helping their children, and to raise their awareness of local community resources. On the whole, parents are less aware of the availability of self-help support groups. Fostering and encouragement of parent support groups would be beneficial to the advocacy and support of rehabilitation planning for children with VI.

In this study, the needs of parents of children with VI in mainstream school were measured using a standardised and validated tool. With a relatively low incidence of children with disability, and the nature of common co-morbid conditions, it would be beneficial to have pooled data from different regions, including the education and hospital sectors, to shed more light on the future planning of support services for these children and their families. More study on the various modes of accommodation for children with VI and more collaborative work among different partners working in the field of rehabilitation will foster better service for these children and their families.

Our special thanks to Dr Cynthia Leung for her critical reading and Mr Morris Wu for the statistical analysis and technical editing. We would like to express our gratitude to all the parents who have participated in this study.

Breast cancer is the most common cancer among women in Hong Kong, with an incidence of 54.8 per 100 000 population in 2010.1 Over the past two decades, breast cancer incidence in Hong Kong has been trending upward, from a lifetime risk of 1 in 27 women in 2000 to a lifetime risk of 1 in 19 women in 2010. As a result, Hong Kong now has an intermediate-to-high breast cancer incidence compared with other Asian countries. The median age of diagnosis of breast cancer is 53 years. Early-stage breast cancer (ESBC; defined as stages 0 to II) is most common at diagnosis, accounting for 81.3% of cases.2 The most common stage at diagnosis is stage II (39.7%).2

Among those diagnosed with ESBC in Hong Kong, 98% undergo surgery, 62% receive adjuvant chemotherapy, and 66% receive hormonal therapy (HT). Adjuvant therapy has been shown to increase survival,3 which includes HT, chemotherapy, or both. The decision to administer adjuvant therapy depends on clinical, pathological, and histochemical features of the tumour, which influence the risk of recurrence.4 5 At our institution, it has been the practice since 2003 to discuss all breast cancer cases at the multidisciplinary breast meeting (MDM) prior to making adjuvant treatment recommendations. In this model, cases are submitted for weekly review by a group of health care professionals including surgeons, oncologists, pathologists, and experts from other disciplines who can add value to optimising the treatment plan for each patient.

The Oncotype DX Breast Cancer Assay (Oncotype DX; Genomic Health, Inc, Redwood City [CA], US) has been validated to measure the risk of recurrence in patients with oestrogen receptor–positive (ER+), human epidermal growth factor receptor 2–negative (HER2-), and lymph node negative tumours. The Oncotype DX test analysed 21 genes and generated a Recurrence Score which is used to quantify the likelihood of distant disease recurrence at 10 years post-treatment. For prognostic use, the Recurrence Score value is categorised into low- (<18), intermediate- (18-30), and high-risk (>30) groups. Typically, patients receiving a low Recurrence Score result will receive HT in the absence of other factors that increase the risk of recurrence. Patients receiving high scores have a higher risk of recurrence and are more likely to respond to chemotherapy; therefore, these patients often receive a combination of chemotherapy followed by HT. The appropriate therapy for patients with an intermediate score is the subject of ongoing clinical trials. Several prospective studies have validated its prognostic and predictive significance using data from the NSABP-B14, NSABP-20, and SWOG 8814 trials.6 7 Oncotype DX has now been incorporated into the National Comprehensive Cancer Network and the St Gallen guidelines for use.4 5

Significant toxicity and cost can accrue to patients undergoing adjuvant chemotherapy, but only a small proportion experience survival benefits. The Recurrence Score result can be used to assess the 10-year risk of recurrence and the potential benefit from adjuvant chemotherapy and, thereby, assist in development of a treatment plan that makes optimal use of resources for the patient’s benefit.

The aim of this study was to examine the impact of the additional information provided by the Oncotype DX test on the clinical treatment decisions for patients diagnosed with ESBC. The study compared treatment regimens proposed by a multidisciplinary breast cancer team before and after receipt of the Oncotype DX results.

This single-centre study was conducted at the Hong Kong Sanatorium and Hospital, a private institution in Hong Kong. This study was a retrospective review of patients with breast cancer who had surgery between 2008 and 2011, whose cases had been reviewed by the MDM, and who had received Oncotype DX assay testing to obtain additional information on recurrence risk. Recurrence risk was assessed by the MDM using clinical factors (including age, tumour size, number of positive lymph nodes, and grade) and Adjuvant! Online,8 and a provisional treatment recommendation was made. The Oncotype DX test was ordered after the MDM to obtain additional recurrence risk information when there was a difference of opinion on interpretation of available information. The test was not ordered when a consensus of opinion on treatment recommendation was reached. Cost of testing was borne by insurance or the patient. For each case, the MDM made final treatment recommendations after consideration of the Recurrence Score results; the actual treatment received took into account patient preference, and might have differed from that recommended by the MDM. Eligible patients had ESBC (T1-2N0-1M0 tumours) that was determined to be ER+, HER2-, and with at most one positive lymph node. In addition, the patient profile was consistent with that prescribed by international guidelines for application of this assessment.4 5 The Recurrence Score result was discussed for all patients and a recommendation was made by simple majority of opinion. Therapy recommendations before Recurrence Score result were categorised as chemohormonal therapy (CHT), equipoise where a clear recommendation for either CHT or HT was not possible, or HT. Changes in intensity of therapy were categorised as increased intensity from HT to equipoise or CHT and equipoise to CHT; changes were categorised as decreased intensity for changes from CHT to equipoise or HT and equipoise to HT.

Data were summarised by using descriptive statistics. For cases considered in this study, the distribution of parameter values in the sample was described by calculating the mean, median, and range where appropriate.

During the study period from 1 August 2008 to 30 June 2011, a total of 620 breast cancer patients with T1-2N0-1M0 tumours underwent surgery. Among them, 154 were ER+ HER2- cases. A total of 66 cases for which there was no unanimity in the MDM were reviewed, of which 64 fulfilled the inclusion criteria for this study; two cases were excluded because HER2 status was determined to be overexpressed by immunohistochemistry. The tumours were predominantly grade II (63%) and similar proportions were stage IA (42%) and stage IIA (48%), with small number of stage IIB cases (9%) [Table 1]. Nine patients with positive lymph nodes (N1 or N1a) were included in the study based on clinical and pathological assessments suggesting less-aggressive disease.

The Recurrence Score values were categorised as low- (<18), intermediate- (18-30), and high-risk (>30) according to the Oncotype DX assay recommendation which gave an estimated distant recurrence rate after the use of HT alone. The panel discussed the possible benefit of adding chemotherapy to the treatment regimen for each patient to reach a consensus recommendation specific for the patient. In this study, the majority of patients had a low-risk Recurrence Score (64%) whilst patients with intermediate- and high-risk Recurrence Score values were less frequent (30% and 6%, respectively). The distribution of Recurrence Score results by tumour stage is shown in Table 2. In this cohort, the distribution of Recurrence Score results by stage was similar to the overall distribution of the Recurrence Score results. Stage IA tumours were comprised of 63% low and 26% intermediate Recurrence Score results, while stage IIA tumours were comprised of 68% low and 29% intermediate Recurrence Score results. Stage IIB tumours were evenly split between low and intermediate scores.

The specific changes in treatment recommendations for all patients in the study are shown in Table 3. Overall, the treatment recommendations for 20 (31%) of the 64 patients changed intensity when the Recurrence Score result was considered. The changes in treatment decisions were predominantly to HT (14/20; 70% of changed treatment recommendations) for the entire cohort. Other changes included two recommendations (10% of changed recommendations) that were changed from CHT to equipoise and four (20%) which resulted in a higher-intensity CHT recommendation over HT or equipoise. Interestingly, five of six stage IIB cases received CHT recommendations both pre– and post–Recurrence Score result. In the sixth stage IIB case, a patient with lobular carcinoma staged as T3N0M0 with a Recurrence Score result of 8, the treatment recommendation was changed from CHT to HT upon receipt of the score.

The distribution of treatment recommendations by stage before and after Oncotype DX testing is shown in Table 3. For stage I patients, recommendations were changed in eight (30%) of 27 patients, while for stage II patients recommendations were changed in 12 (32%) of 37 patients. As for the entire cohort, the changes in treatment decisions were predominantly to HT for both stage I (5/8, 63%) and stage II (9/12, 75%) patients. In the stage I tumours, all four equipoise recommendations (15% of recommendations prior to Oncotype DX testing) were changed after testing. The proportion of CHT recommendations remained the same at 13 (48%) and HT recommendations increased from 10 (37%) to 14 (52%) after receipt of the Recurrence Score result. In stage II tumours, the proportion receiving recommendations for equipoise decreased from 7 (19%) to 2 (5%). The CHT recommendations decreased somewhat from 26 (70%) to 22 (59%), while the proportion receiving a HT recommendation increased from 4 (11%) to 13 (35%).

The distribution of Recurrence Score categories by therapy recommendation before and after receipt of Oncotype DX results is shown in the Figure. The number of low Recurrence Score cases in the CHT group decreased from 20 before Recurrence Score information to 13 after the Recurrence Score result was obtained, while the number of low Recurrence Score cases in the group that did not require chemotherapy increased from 21 to 28 once the Recurrence Score information was available. While two patients in the high Recurrence Score group did not receive a recommendation for CHT pre–Oncotype DX, all the cases with high Recurrence Scores received a recommendation for CHT post–Oncotype DX.

This first analysis of the impact of the Oncotype DX Breast Cancer Assay on adjuvant treatment for early-breast cancer in Hong Kong revealed similarities with studies in other populations worldwide with regard to the distribution of Recurrence Score results, proportion of treatment recommendations that changed upon consideration of Oncotype DX information, and shift in proportions of chemotherapy recommendations compared with other treatment recommendations.9 10 11 12 13

The Recurrence Score distribution observed in this retrospectively selected cohort of breast cancer patients is similar to that observed in other studies of ESBC, with predominance of lower Recurrence Score values. These results are also comparable to the Asia-Pacific region’s Recurrence Score distribution reported by Genomic Health: low risk=51%, intermediate risk=33%, and high risk=16%.14 The distribution observed in this study differed from other studies9 12 13 in that the proportion of low Recurrence Score results was higher and the proportion of high Recurrence Score results was lower than previously observed. Since these cases were estimated to derive borderline benefit based on their initial assessment using Adjuvant! Online and clinical parameters, it might be expected that Recurrence Score distribution in this cohort would be skewed at the lower end as well. When examined by stage, the Recurrence Score distribution did not change substantially. In fact, all six stage IIB tumours had low or intermediate Recurrence Scores, including the single T3 tumour in this study. This observation is consistent with that in other studies9 15 16 showing that the Recurrence Score assay provides information not inherent to traditional clinicopathological assessments of the tumour.

Inclusion of Oncotype DX information led to a change in 20 (31%) of 64 treatment plans. These results correspond with similar decision impact studies from the US,12 13 17 European Union,9 10 and the Middle East11 that assessed the impact of Recurrence Score information on choice of adjuvant therapy in ESBC. The proportion of treatment plans that changed in these studies ranged from 25% to 40%, so the 30% observed in this study is typical.

The proportion of changes to CHT or in the other direction to HT as a result of Oncotype DX testing in breast cancer is also similar to that in other studies, with the proportion of CHT recommendations decreasing and the proportion of HT recommendations increasing.9 10 11 12 13 Changes were largely to lower-intensity treatments, with 80% of the 20 changed recommendations shifting from CHT or equipoise to a lower-intensity regimen. Most of these transitions to lower-intensity treatment recommendations resulted from movement of the equipoise cases to HT (40% of changes). An additional 30% of the changes were shifts from CHT to HT recommendations. This effect was seen with the only T3 tumour in the study, classified as T3N0M0, a case which transitioned from a CHT recommendation to HT after receiving a low-risk Recurrence Score of 8. Recurrence Score information resulted in increases in treatment intensity as well. The two cases with a high score that were not originally given a CHT recommendation were switched to CHT after consideration of the Recurrence Score.

Adjuvant treatment for ESBC is an important, yet complex area faced by oncologists. To patients, this is a life-changing decision, the outcome of which will drastically impact their lives. The decision whether to give chemotherapy as part of adjuvant therapy to cancer patients can be difficult with traditional prognostic indicators as, often, they have been insufficient to identify patients who will benefit from those who may not benefit. A number of prognostic tools have been developed, including Oncotype DX and Adjuvant! Online that can aid the multidisciplinary team in making decisions on adjuvant treatment. The additional information provided by the Oncotype DX Recurrence Score result provides the physician with unique information in the assessment of risk of recurrence. In this study, cases were selected that were deemed to have intermediate risk using clinical factors and Adjuvant! Online, and for which there was no unanimous agreement. This was exemplified by inclusion of nine lymph node–positive cases. Their disease was considered less aggressive based on assessment of the tumour biology, creating uncertainty about the necessity of chemotherapy for these patients. Thus, the Oncotype DX test was recommended so that the multidisciplinary team would have additional information on which they could base their adjuvant treatment decisions. Given the high proportion of ESBC cases in Hong Kong, such cases may be frequent and there is an evident need for Oncotype DX testing to assist in making treatment recommendations. The additional information gained can help physicians and patients avoid expensive and toxic chemotherapy.

Limitations of the study were its retrospective nature. In addition, selection of patients was non-uniform; cases were selected based on their intermediate-risk assessment in MDMs; and the selected cases were the ones for which the physicians had difficulty in making treatment recommendations.

This study demonstrated that the distribution of Oncotype DX Recurrence Score results in the population of women with ESBC in Hong Kong is similar to that reported in other geographical regions in the world. The impact of the Recurrence Score information on adjuvant treatment decisions in Hong Kong was also similar to that reported by others, with the main effect being a shift in treatment recommendations to lower-intensity regimens. Finally, the proportion of equipoise chemotherapy recommendations was greatly reduced, suggesting that the Recurrence Score can assist in making definitive treatment recommendations in cases for which physicians are ambivalent about using chemotherapy.

The authors wish to thank The Hong Kong Sanatorium and Hospital for supporting and facilitating the weekly Multidisciplinary Breast Meeting and the members of the multidisciplinary breast team for their active participation.

No conflicts of interest were declared by authors.