Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Bradshaw, Nicola; Brewer, Carole; FitzPatrick, David R.; Murray, George; Rodgers, Frances; Porteous, Mary; Campbell, Harry

doi:10.1038/sj.ejhg.5200208

Cited by 9 publications

(2 citation statements)

References 49 publications

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“…ICPs represent a single common record of care1 6 allowing each discipline involved to record their own involvement and provide and be kept up to date with the outcome of appointments with other specialists. In some circumstances, multidisciplinary consensus meetings leading to the production of the ICP might result in an agreement to hold multidisciplinary clinics to coordinate care, where this seems appropriate.…”

Section: Discussionmentioning

confidence: 99%

Evidence based medicine in practice: lessons from a Scottish clinical genetics project

Campbell

Bradshaw²,

Davidson³

et al. 2000

Journal of Medical Genetics

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Objective-To establish national clinical guidelines and integrated care pathways for five conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD), neurofibromatosis type 1 (NF1), and Marfan syndrome (MS)) and audit their use in Scotland. Design-Systematic review of published reports followed by consensus conferences to prepare clinical guidelines and integrated care pathways. Structured review of medical records before and after introduction of integrated care pathways to document changes in practice. Survey of staV views on procedures adopted. Setting-All four clinical genetics centres in Scotland.Results-Project resulted in reduced variation in practice across centres, improved data recording in medical records, and improved communication with other professional groups. A very poor evidence base for management of patients with the conditions studied was found. Conclusions-A collaborative structure for undertaking clinical research would improve the evidence base for current practice. National discussion of the boundaries of responsibility of care for the long term management of patients with these disorders is required. The integrated care pathway approach shows promise as a means of facilitating the development of audit within clinical genetics services. (J Med Genet 2000;37:684-691)

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Section: Discussionmentioning

confidence: 99%

Evidence based medicine in practice: lessons from a Scottish clinical genetics project

Campbell

Bradshaw²,

Davidson³

et al. 2000

Journal of Medical Genetics

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“…The most recent recommendations favour CT or MRI, at least in adults [ 7 , 13 ]. The more frequent use of ultrasound in our study may reflect older recommendations [ 18 , 25 , 26 , 34 ].…”

Section: Discussionmentioning

confidence: 98%

Renal manifestations of tuberous sclerosis complex: patients’ and parents’ knowledge and routines for renal follow-up – a questionnaire study

et al. 2018

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BackgroundRenal angiomyolipomas (AMLs) are a major clinical feature in patients with tuberous sclerosis complex (TSC). Spontaneous bleeding can be life threatening, and appropriate information and proper surveillance and management are important to limit morbidity and mortality. Because TSC is a rare disease, patients are at risk of suboptimal medical management. Our aim was to investigate patients’ and parents’ knowledge about renal angiomyolipomas (AMLs) in Tuberous Sclerosis Complex (TSC) and to identify current routines for renal follow-up.MethodsA questionnaire survey was initiated by the French Reference Centre on TSC. It was distributed in France through university hospitals and the patients’ association (2009-2011), and to patients registered by the Norwegian National Centre for Rare Epilepsy-Related Disorders (2013-2014). Contingency tables with Chi-Square test for independence (with Yates Continuity Correction) and Pearson-Chi-Square value were used for correlation statistics.ResultsWe included 357 patients (France, n=257; Norway n=100). Most participants knew that TSC is associated with AMLs. However, 42 % did not know about the risk of AMLrelated bleeding, and 37 % had been informed about the risk of bleeding only after the age of 15 years. Furthermore, 14 % did not know whether they themselves or their child had AMLs. Patients had less knowledge than parents. Medical consultations and patient associations were the main sources of information. Among 30 % of patients, renal imaging was not received at all, or not conducted every 1-3 years, as recommended by current guidelines. Regular imaging was more frequent in patients with AMLs < 15 years, than in patients with AMLs ≥ 15 years. Ultrasound was the most frequently used imaging modality.ConclusionsKnowledge of renal AML in TSC patients and their parents was lower than expected, and follow-up by renal imaging was suboptimal for a substantial proportion of patients. Patients and parents should be informed about the risk and symptoms of renal bleeding, at the latest when the patient is 15 years. Monitoring the growth of AMLs should be standardized to comply with guidelines. Transition between adolescence and adulthood is a high-risk period and ensuring appropriate follow-up at this time is particularly important.

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The Phakomatoses

Huson

2013

Emery and Rimoin's Principles and Practice of Medical Genetics

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Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Cited by 9 publications

References 49 publications

Evidence based medicine in practice: lessons from a Scottish clinical genetics project

Evidence based medicine in practice: lessons from a Scottish clinical genetics project

Renal manifestations of tuberous sclerosis complex: patients’ and parents’ knowledge and routines for renal follow-up – a questionnaire study

The Phakomatoses

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