A prevalence study of epilepsy in Hong Kong

Objectives. To examine epidemiological data on epilepsy for the Hong Kong west region. Design. Descriptive study. Setting. Epilepsy clinic, university teaching hospital, Hong Kong. Patients and methods. The epilepsy clinic of Queen Mary Hospital manages the majority of adult patients (aged 15 years or older) with chronic seizure disorders resident in the Hong Kong west area with an adult population of 475 900. All patients underwent electroencephalography examination and each subject was independently assessed by two epileptologists for diagnosis and classified according to the International League Against Leaoue Epilepsy recommendations. Results. Seven hundred and thirty-six patients (female, 42.9%; male, 57.1%; mean age, 40.8 years; standard deviation, 13.6 years) with epilepsy were enrolled in the study. The prevalence rate of active epilepsy in the population 15 years or older was estimated at 1.54 per 1000 on 1 January 2002. Two hundred and eighty-five (38.7%) patients had idiopathic epilepsy syndromes, 100 (13.6%) had cryptogenic epilepsy, and 285 (38.7%) had a remote symptomatic aetiology. Seizure type was partial in 408 (55.4%) patients and generalised in 285 (38.7%). Thirty-one (4.2%) patients had a positive family history. Idiopathic generalised epilepsy syndromes described as common in the literature, such as juvenile myoclonic epilepsy and childhood absence epilepsy, were infrequently seen at 0.68% and 0.95% of cases, respectively. Conclusions. This study provides baseline data for epilepsy service development and research in Hong Kong. The prevalence rate of active epilepsy in this Chinese, adult population was low compared with that reported in other developed countries. Further population-based epidemiological research is indicated to confirm the prevalence of seizure disorders in this locality.published_or_final_versio

A large Chinese kindred with familial ALS without SOD1 mutation

This journal suppl. contain abstracts of the 8th Medical Research Conference, Medical Science Group, Queen Mary Hospital, Hong Kongpublished_or_final_versio

Fetal gene therapy for neurodegenerative disease of infants

For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against early, irreversible and lethal pathological change. To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA. In adult patients, the milder form presents with hepatomegaly, splenomegaly and occasional lung and bone disease; this is managed, symptomatically, by enzyme replacement therapy. The acute childhood lethal form of nGD is untreatable since enzyme cannot cross the blood-brain barrier. Patients with nGD exhibit signs consistent with hindbrain neurodegeneration, including neck hyperextension, strabismus and, often, fatal apnea1. We selected a mouse model of nGD carrying a loxP-flanked neomycin disruption of Gba plus Cre recombinase regulated by the keratinocyte-specific K14 promoter. Exclusive skin expression of Gba prevents fatal neonatal dehydration. Instead, mice develop fatal neurodegeneration within 15 days2. Using this model, fetal intracranial injection of adeno-associated virus (AAV) vector reconstituted neuronal glucocerebrosidase expression. Mice lived for up to at least 18 weeks, were fertile and fully mobile. Neurodegeneration was abolished and neuroinflammation ameliorated. Neonatal intervention also rescued mice but less effectively. As the next step to clinical translation, we also demonstrated the feasibility of ultrasound-guided global AAV gene transfer to fetal macaque brains

Abstract P3-11-04: Adapting evidenced based strategies for effective communication in cancer genetic counseling

Abstract This abstract was withdrawn by the authors.</jats:p

Effective Cancer Risk Communication to Prevent Disparities in the Era of Precision Medicine

Abstract As genetics and genomics become part of mainstream Medicine, these advances have the potential to reduce or exacerbate health disparities. Gaps in effective communication (where all parties share the same meaning) are widely recognized as a major contributor to health disparities. The purpose of this study was to examine cancer genetic counselor-patient communication, to assess its effectiveness from the patient perspective, and to pilot intervention strategies to improve it. We used multiple inductive methods, including standard ethnographic techniques to systematically observe and audio-record genetic counseling sessions, and qualitative interviews with observed patients using the audio recordings to stimulate recall and probe specific aspects of the communication. Data analyses were conducted using grounded theory. We observed 64 English-, 35 Spanish- and 25 Cantonese- speaking public hospital patients (n = 124) and 10 Genetic Counselors in 170 appointments, and interviewed 49 patients who had been offered testing. We identified a fundamental mismatch between the information provided by genetic counselors and the information desired and meaningful to patients. Several components of the communication that contributed to this mismatch and often resulted in ineffective communication included: (1) too much information; (2) complex terminology and conceptually difficult presentation of information; (3) information perceived as not relevant by the patient; (4) unintentional inhibition of patient engagement and question-asking; (5) vague discussions of screening and prevention recommendations. To address these communication barriers, we adapted from other fields of Medicine to the genetic counseling context and pilot tested evidence-based strategies for effective communication with limited literacy patients. Our findings indicate a need to transform the standard model of hereditary cancer risk communication. The increasing access of diverse populations to genetic services, high rates of limited health literacy in the US, and growing complexity of genetic information have created a perfect storm. If not directly addressed, this convergence can be expected to exacerbate health disparities in the genomic age.</jats:p