Congenital myopathies: characteristic and subtypes in Hong Kong

This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an underlying diagnosis is often challenging. This is the first congenital myopathy case series in Hong Kong. A total of 15 patients have been diagnosed to have congenital myopathies with 11 patients had the genetic mutations being identified (4 patients had RYR1 mutations, 3 patients had ACTA1 mutations, 2 patients had KLHL40 mutations, 1 patient had MTM1 mutation and 1 patient had DNM2 mutation).postprin

Health-related quality of life of children with epilepsy in Hong Kong: How does it compare with that of youth with epilepsy in Canada?

Objective: The primary aim of our study was to compare the health-related quality of life (HRQL) of children with epilepsy in Hong Kong with that of children with epilepsy in Canada, and to explore possible factors affecting these findings. A second interest was to determine agreement between proxy reports and self-ratings among children with epilepsy in Hong Kong, compare these with findings in Canada, and identify factors that influence the concordance. Methods: Child self-report and parent-proxy questionnaires on an epilepsy-specific HRQL measure, appropriately translated and validated in Chinese, were administered to 266 Hong Kong children and their parents. An unpaired t test was used to compare the scores with published results from 381 Canadian children and their parents, who used the original English version of the measure. Demographic characteristics of the two groups were compared using t tests, χ 2 tests, and Fisher's exact tests. Agreement between parents' and children's scores was evaluated with intraclass correlation coefficients (ICCs) and standardized response means (SRMs). The total HRQL score differences between parents and children in Hong Kong were compared with those in Canada using an unpaired t test. Factors that might affect the parent-child score difference were studied using Pearson correlation analysis, χ 2 test, and analysis of variance. Factors studied included: sex, current age, age at diagnosis, duration of epilepsy, number of antiepileptic drugs used, type of seizure, seizure severity, cognition of the child, the type of school attended, presence of neurological problems, presence of behavioral problems, recent health care usage, education and employment status of both parents, housing status of the family, and relationship of the proxy respondent to the child. Results: (1) In contrast to the Canadian sample, Hong Kong children with epilepsy were older (P < 0.01), had a longer duration of epilepsy (P < 0.01) and less severe seizures (P < 0.01), and were more likely to attend normal schools (P < 0.01). Children in Hong Kong reported more interpersonal/social difficulties (P < 0.01), more worries (P < 0.01), and more secrecy about their epilepsy (P < 0.01). Parents in Hong Kong believed that their children perceived more worries (P < 0.01) and were more secretive about their epilepsy (P < 0.01). (2) Moderate to good agreement between parent-proxy response scores and child self-report scores was demonstrated (ICC = 0.50-0.69, SRM = 0.19-0.33). The total HRQL score differences between parent and child in Hong Kong were not different from those in Canada. None of the factors studied were related to the parent-child score difference. Conclusions: Youth with epilepsy in Hong Kong and their parents reported poorer quality of life than children with epilepsy in Canada. Further studies are necessary to identify the determinants of HRQL in children with epilepsy in different cultures. Acceptable agreement between the two ratings suggests that proxy reports can be used when child self-reports cannot be obtained. © 2007 Elsevier Inc. All rights reserved.link_to_subscribed_fulltex

Management of child abuse in Hong Kong: Results of a territory-wide interhospital prospective surveillance study

Objectives. To study suspected child abuse among children in hospital in terms of clinical characteristics and the outcome of multidisciplinary case conferences. Design. Prospective observational study. Setting. All public hospitals in Hong Kong with a paediatric department. Methods. Anonymous data were prospectively collected from July 1997 to June 1999 using a standard report form for each case of suspected child abuse. The characteristics of the incidents and factors influencing the conclusion at the multidisciplinary case conference were studied. Results. Data for 592 cases of suspected child abuse were evaluated. Two hundred and eighty-seven of the children were boys and 305 were girls. The mean age was 7.3 years (range, 0-16.7 years). Physical abuse, alone or in combination with other forms of maltreatment, accounted for 277 (86.6%) of the 320 substantiated cases. Either, or both, biological parents comprised 71.3% of the perpetrators. Seven (1.2%) children died. Of the 540 children about whom a multidisciplinary case conference was held, abuse was established for 281 (52.0%) children. Abuse was more likely to be established if the victim had been known to a childcare agency (odds ratio=2.2; 95% confidence interval, 1.4-3.5), the abuse was not sexual (odds ratio=2.7; 95% confidence interval, 1.4-5.0), or if the child was seen at a hospital that handled more than 100 cases of suspected abuse during the study period (odds ratio=3.6; 95% confidence interval, 2.4-5.4). Conclusion. Child abuse identified in the hospital setting is predominantly physical in nature and death is not uncommon. Appraisal of suspected child abuse by multidisciplinary case conference appears to be influenced by the region of Hong Kong in which the case was handled.link_to_subscribed_fulltex