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      Tuberous Sclerosis Australia: a case study of a maturing patient-driven organisation

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          Abstract

          Purpose

          – Tuberous Sclerosis Australia (TSA) is a small rare disease organisation with a large scope. TSA was established in 1981 as a peer support organisation. Since then, its role has evolved to meet the needs of its members: individuals living with tuberous sclerosis complex (TSC), their families and health professionals. The paper aims to discuss these issues.

          Design/methodology/approach

          – This case study describes the diverse activities of TSA which include, but are not limited to: the provision of information and support services; sponsorship of research and fostering a network of TSC health professionals. The benefits of collaborations forged under the umbrella organisation TSC International are highlighted.

          Findings

          – The case study demonstrates some of the key challenges TSA faces, challenges shared by many similar health charities. These include: funding of health education and promotion activities; working with a large range of health professionals and the challenge of research fatigue.

          Originality/value

          – There is little research published describing the work of small disease specific organisations similar to TSA. This case study provides insight for those collaborating with similar organisations including health professionals and researchers.

          Related collections

          Most cited references 21

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          Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.

          Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant "treatment gap" and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex.
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            Lay Participation in Health Care Decision Making: A Conceptual Framework

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              Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.

              Tuberous sclerosis complex (TSC) is a progressive genetic disorder characterized by pervasive benign tumor growth. We sought to assess the current understanding of burden of TSC-related neurological manifestations. We systematically searched MEDLINE- and EMBASE-indexed, English-language literature (5/2000-5/2010) and non-indexed materials. In total, 119 articles were included, 115 on epidemiology and treatment. Recent prevalence estimates from Ireland and Taiwan report TSC in 1:14,000-25,000 individuals, below older estimates of 1:10,000. While neurological manifestations are common, treatment is largely unaddressed by guidelines and focuses on symptoms, with resection standard for subependymal giant cell astrocytomas (SEGAs) and common practice for refractory epilepsy. Antiepileptic drugs and mammalian target of rapamycin inhibitors safely, effectively minimize the need for surgery for severe epilepsy and SEGAs. Morbidity and treatment burden of prevalent neurological manifestations is significant, suggesting substantial economic and humanistic burden; however, these areas are poorly studied, indicating total disease burden is unknown. Future research should assess quality of life, caregiver burden, and costs.
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                Author and article information

                Contributors
                Journal
                aia
                10.1108/AIA
                Advances in Autism
                Emerald Publishing
                2056-3868
                4 April 2016
                4 April 2016
                : 2
                : 2
                : 94-103
                Affiliations
                Tuberous Sclerosis Australia, New South Wales, Australia
                Article
                AIA-01-2016-0002.pdf
                10.1108/AIA-01-2016-0002
                © Emerald Group Publishing Limited
                Product
                Categories
                Articles
                Case study
                Health & social care
                Learning & intellectual disabilities
                Custom metadata
                yes
                yes
                JOURNAL
                included

                Health & Social care

                Services, Tuberous sclerosis complex, Strategy, Health

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