Browsing by Subject "Epilepsy"

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    Open Access
    A descriptive analysis of HIV prevalence, HIV service uptake, and HIV-related risk behaviour among patients attending a mental health clinic in Rural Malawi
    (Public Library of Science, 2013) Lommerse, Kinke; Stewart, Robert C; Chilimba, Queen; Akker, Thomas van den; Lund, Crick
    BACKGROUND: Human immunodeficiency virus (HIV) and mental illness are interlinked health problems; mental illness may pose a risk for contracting HIV and HIV-positive individuals are at higher risk of mental illness. However, in countries with high HIV prevalence, the main focus of HIV-related health programmes is usually on prevention and treatment of somatic complications of HIV, and mental illness is not given high priority. We examined HIV prevalence, uptake of HIV services, and HIV-related risk behaviour among people attending a mental health clinic in rural Malawi. METHODOLOGY: Semi-structured interviews were performed with patients capable to consent (94%), and with those accompanied by a capable caregiver who consented. HIV counselling and testing was offered to participants. FINDINGS: Among 174 participants, we collected 162 HIV test results (91%). HIV prevalence was 14.8%. Women were three times as likely to be HIV-positive compared to men. Two-thirds of participants reported having been tested for HIV prior to this study. The uptake of HIV-services among HIV-positive patients was low: 35% did not use recommended prophylactic therapy and 44% of patients not receiving antiretroviral treatment (ART) had never been assessed for ART eligibility. The reported rate of sexual activity was 61%, and 9% of sexually active participants had multiple partners. Inconsistent condom use with stable (89%) and occasional (79%) sexual partners, and absence of knowledge of the HIV status of those partners (53%, 63%) indicate high levels of sexual risk behaviour. CONCLUSIONS: HIV-prevalence among persons attending the clinic, particularly men, was lower than among the general population in a population survey. The rate of HIV testing was high, but there was low uptake of preventive measures and ART. This illustrates that HIV-positive individuals with mental illness or epilepsy constitute a vulnerable population. HIV programmes should include those with neuropsychiatric illness.
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    Open Access
    Impact of district mental health care plans on symptom severity and functioning of patients with priority mental health conditions: the Programme for Improving Mental Health Care (PRIME) cohort protocol
    (BioMed Central, 2018-03-06) Baron, Emily C; Rathod, Sujit D; Hanlon, Charlotte; Prince, Martin; Fedaku, Abebaw; Kigozi, Fred; Jordans, Mark; Luitel, Nagendra P; Medhin, Girmay; Murhar, Vaibhav; Nakku, Juliet; Patel, Vikram; Petersen, Inge; Selohilwe, One; Shidhaye, Rahul; Ssebunnya, Joshua; Tomlinson, Mark; Lund, Crick; De Silva, Mary
    Background The Programme for Improving Mental Health Care (PRIME) sought to implement mental health care plans (MHCP) for four priority mental disorders (depression, alcohol use disorder, psychosis and epilepsy) into routine primary care in five low- and middle-income country districts. The impact of the MHCPs on disability was evaluated through establishment of priority disorder treatment cohorts. This paper describes the methodology of these PRIME cohorts. Methods One cohort for each disorder was recruited across some or all five districts: Sodo (Ethiopia), Sehore (India), Chitwan (Nepal), Dr. Kenneth Kaunda (South Africa) and Kamuli (Uganda), comprising 17 treatment cohorts in total (N = 2182). Participants were adults residing in the districts who were eligible to receive mental health treatment according to primary health care staff, trained by PRIME facilitators as per the district MHCP. Patients who screened positive for depression or AUD and who were not given a diagnosis by their clinicians (N = 709) were also recruited into comparison cohorts in Ethiopia, India, Nepal and South Africa. Caregivers of patients with epilepsy or psychosis were also recruited (N = 953), together with or on behalf of the person with a mental disorder, depending on the district. The target sample size was 200 (depression and AUD), or 150 (psychosis and epilepsy) patients initiating treatment in each recruiting district. Data collection activities were conducted by PRIME research teams. Participants completed follow-up assessments after 3 months (AUD and depression) or 6 months (psychosis and epilepsy), and after 12 months. Primary outcomes were impaired functioning, using the 12-item World Health Organization Disability Assessment Schedule 2.0 (WHODAS), and symptom severity, assessed using the Patient Health Questionnaire (depression), the Alcohol Use Disorder Identification Test (AUD), and number of seizures (epilepsy). Discussion Cohort recruitment was a function of the clinical detection rate by primary health care staff, and did not meet all planned targets. The cross-country methodology reflected the pragmatic nature of the PRIME cohorts: while the heterogeneity in methods of recruitment was a consequence of differences in health systems and MHCPs, the use of the WHODAS as primary outcome measure will allow for comparison of functioning recovery across sites and disorders.
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    Juvenile myoclonic epilepsy : characterisation of the syndrome and examination of linkage to the HLA locus in families from the Western Cape
    (1997) Carr, Jonathan Ambrose; Eastman, Roland
    The primary purpose of this study was the identification of patients with JME, in order to identify suitable families for studying the nature of the linkage of the syndrome of JME to the HLA (Human Leukocyte Antigen) locus. This search for suitable candidate families necessitated examination of a large number of individuals with a range of IGE syndromes, and patients were classified into these various syndromes. Patients with JME were thereafter investigated further. The study could thus be broken up into three sections: i) Determination of the various syndromes of IGE. ii) Characterisation of JME. iii) Linkage Studies on JME patients.
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    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
    (2021-10-26) Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A.; Bassetti, Jennifer A.; Moldovan, Oana; O’Heir, Emily; Burrage, Lindsay C.; Allen, Jake; Emrick, Lisa T.; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H.; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J.; Umair, Muhammad; Li, Dong; Donald, Kirsten A.; Superti-Furga, Andrea
    Background De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. Methods Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. Results We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype–phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. Limitations The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. Conclusions Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.
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    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
    (2014-11-26) Kingswood, John C; Bruzzi, Paolo; Curatolo, Paolo; de Vries, Petrus J; Fladrowski, Carla; Hertzberg, Christoph; Jansen, Anna C; Jozwiak, Sergiusz; Nabbout, Rima; Sauter, Matthias; Touraine, Renaud; O’Callaghan, Finbar; Zonnenberg, Bernard; Crippa, Stefania; Comis, Silvia; d’Augères, Guillaume B; Belousova, Elena; Carter, Tom; Cottin, Vincent; Dahlin, Maria; Ferreira, José C; Macaya, Alfons; Benedik, Mirjana P; Sander, Valentin; Youroukos, Sotirios; Castellana, Ramon; Ulker, Bulent; Feucht, Martha
    Abstract Background Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies. Methods TuberOus SClerosis registry to increase disease Awareness (TOSCA) is a multicentre, international disease registry to assess manifestations, interventions, and outcomes in patients with TSC. Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals are eligible. Objectives include mapping the course of TSC manifestations and their effects on prognosis, identifying patients with rare symptoms and co-morbidities, recording interventions and their outcomes, contributing to creation of an evidence-base for disease assessment and therapy, informing further research on TSC, and evaluating the quality of life of patients with TSC. The registry includes a ‘core’ section and subsections or ‘petals’. The ‘core’ section is designed to record general information on patients’ background collected at baseline and updated annually. Subsections will be developed over time to record additional data related to specific disease manifestations and will be updated annually. The registry aimed to enrol approximately 2000 patients from about 250 sites in 31 countries. The initial enrolment period was of 24 months. A follow-up observation period of up to 5 years is planned. Results A pre-planned administrative analysis of ‘core’ data from the first 100 patients was performed to evaluate the feasibility of the registry. Results showed a high degree of accuracy of the data collection procedure. Annual interim analyses are scheduled. Results of first interim analysis will be presented subsequent to data availability in 2014. Implications The results of TOSCA will assist in filling the gaps in understanding the natural history of TSC and help in planning better management and surveillance strategies. This large-scale international registry to study TSC could serve as a model to encourage planning of similar registries for other rare diseases.
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    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
    (2017) Kingswood, John C; d’Augères, Guillaume B; Belousova, Elena; Ferreira, José C; Carter, Tom; Castellana, Ramon; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; de Vries, Petrus J; Feucht, Martha; Fladrowski, Carla; Gislimberti, Gabriella; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Nabbout, Rima; O’Callaghan, Finbar; Benedik, Mirjana P; Qin, Jiong; Marques, Ruben; Sander, Valentin; Sauter, Matthias; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna C
    Abstract Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. Methods Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a “core” section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. “Subsections” of the registry recorded additional data related to specific features of TSC. Results Baseline “core” data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0–71) and at diagnosis of TSC was 1 year (range, 0–69). The occurrence rates of major manifestations of TSC included – cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30–50% of patients. Conclusion TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.
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    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
    (BioMed Central, 2017-01-05) Kingswood, John C; d’Augères, Guillaume B; Belousova, Elena; Ferreira, José C; Carter, Tom; Castellana, Ramon; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; de Vries, Petrus J; Feucht, Martha; Fladrowski, Carla; Gislimberti, Gabriella; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Nabbout, Rima; O’Callaghan, Finbar; Benedik, Mirjana P; Qin, Jiong; Marques, Ruben; Sander, Valentin; Sauter, Matthias; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna C
    Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. Methods: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a “core” section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. “Subsections” of the registry recorded additional data related to specific features of TSC. Results: Baseline “core” data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0–71) and at diagnosis of TSC was 1 year (range, 0–69). The occurrence rates of major manifestations of TSC included – cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30–50% of patients. Conclusion: TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.