ORCID Profile
0000-0002-7256-3027
Current Organisation
The University of Edinburgh
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Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 21-10-2016
DOI: 10.1212/WNL.0000000000003352
Abstract: To investigate seizure outcomes and their relationships to genotype and functional abilities in in iduals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized in idual mutations into 4 groups based on predicted structural and functional consequences. Negative binomial regression was used to model the linear association between current seizure rate and mutation group, current level of assistance required to walk 10 steps, and the highest level of expressive communication used to convey refusal or request. All but 3 (169/172) patients had a history of epilepsy. The median age at seizure onset was 6 weeks (range 1 week–1.5 years) and the median seizure rate at ascertainment was 2 per day (range 0–20 per day). After adjusting for walking ability and confounders including use or otherwise of polytherapy, seizure rate was lower in those with truncating mutations between aa172 and aa781 compared to those with no functional protein (incidence rate ratio [IRR] 0.57 95% confidence interval [CI] 0.35–0.93). Ability to walk and use of spoken language were associated with lower rates of current seizures when compared to those with the least ability after adjusting for genotype (walking: IRR 0.62 95% CI 0.39–0.99, communication: IRR 0.48 95% CI 0.23–1.02). At a median age at questionnaire completion of 5 years, those previously treated with corticosteroids had more frequent seizures than those who have never been treated, whether or not there was a history of infantile spasms. Epilepsy is pervasive but not mandatory for the CDKL5 disorder. Genotype and functional abilities were related to seizure frequency, which appears refractory to antiepileptic drugs.
Publisher: Wiley
Date: 03-06-2015
DOI: 10.1111/EPI.13015
Abstract: To provide data on the health, social care, and education costs of active childhood epilepsy and factors associated with these costs over an 18-month period in a population-based s le. The Children with Epilepsy in Sussex Schools (CHESS) study is a population-based study involving school-aged children (5-15 years) with active epilepsy (taking one or more antiepileptic drug and/or had a seizure in the last year) in a defined geographical area in England. Clinical data were collected on 85 children (74% of eligible population) who underwent comprehensive psychological assessment. Health, education, and social care resource use was collected retrospectively over an 18-month period. Regression analysis was used to identify variables associated these with costs. The mean (standard deviation) 18-month cost of health care for a child with active epilepsy was £3,635 (£5,339), with mean education and social care cost of £11,552 (£8,937) and £1,742 (£8,158), respectively, resulting in total mean costs per participant of £16,931 (£14,764). Health care costs were significantly associated with seizure frequency and etiology (all p-values < 0.05). Combined health care, social care, and education costs were significantly related to cognitive impairment (intelligence quotient [IQ] <85) and seizure frequency (p < 0.05). The mean cost of health care, social care, and education over 18 months for participants with cognitive impairment was £23,579 (95% confidence interval [CI] £16,489-£30,670) compared to £7,785 (95% CI £4,943-£10,627) for those without impairment. Active childhood epilepsy has significant health, social care, and education costs. This is the first study to comprehensively document the economic impact on these sectors as well as factors associated with these costs. When caring for children with epilepsy in England, costs incurred by education and social care sectors are approximately four times the costs incurred by the health care sector. Increased costs were associated with cognitive impairment (IQ <85) and weekly or greater seizure frequency.
Publisher: Massachusetts Medical Society
Date: 25-05-2017
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Richard Chin.