Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and treatment initiation can improve symptoms and prognosis, a standardised approach to diagnosis, treatment and management of patients is not yet established. Aim To assess expert opinion on best care practices for patients with CTX using a modified Delphi method. Methods A multidisciplinary group of healthcare professionals with expertise in CTX responded to a 3-round online questionnaire (n = 10 in Rounds 1 and 2; n = 9 in Round 3), containing questions relating to the diagnosis, treatment, monitoring, multidisciplinary care and prognosis of patients with CTX. Determination of consensus achievement was based on a pre-defined statistical threshold of >= 70% Delphi panellists selecting 1-2 (disagreement) or 5-6 (agreement) for 6-point Likert scale questions, or >= 70% Delphi panellists choosing the same option for ranking and proportion questions. Results Of the Round 1 (n = 22), Round 2 (n = 32) and Round 3 (n = 26) questions for which consensus was assessed, 59.1%, 21.9% and 3.8% reached consensus, respectively. Consensus agreement that genetic analyses and/or determination of serum cholestanol levels should be used to diagnose CTX, and dried bloodspot testing should facilitate detection in newborns, was reached. Age at diagnosis and early treatment initiation (at birth, where possible) were considered to have the biggest impact on treatment outcomes. All panellists agreed that chenodeoxycholic acid (CDCA) is a lifetime replacement therapy which, if initiated early, can considerably improve prognosis as it may be capable of reversing the pathophysiological process in CTX. No consensus was reached on the value of cholic acid therapy alone. Monitoring patients through testing plasma cholestanol levels and neurologic examination was recommended, although further research regarding monitoring treatment and progression of the disease is required. Neurologists and paediatricians/metabolic specialists were highlighted as key clinicians that should be included in the multidisciplinary team involved in patients' care. Conclusions The results of this study provide a basis for standardisation of care and highlight key areas where further research is needed to inform best practices for the diagnosis, treatment and management of patients with CTX

Who listens? - The voices of domestic violence survivors in service provision in the United Kingdom

This article discusses, in the context of the United Kingdom, service user participation in domestic violence services and how much the voices of domestic violence survivors are heard in policy and service development. If services addressing domestic violence are to continue to develop and to effectively meet abused women's needs, then the views of those using them need to be heeded and acted on. In the UK, these views have been mainly overlooked in the past. Now, however, as in some other countries, domestic violence survivor participation has been addressed to a small extent. This article discusses some of the pioneering techniques being tried out and the sensitivity and difficulties involved, within a context of an understanding of empowerment and the activist movement against gender violence. The article considers the participation of UK women experiencing violence in both shelter and advocacy services, in wider interagency forums and in policy developmen

Interpreting multi-agency partnerships: ideology, discourse and domestic violence

This article examines local multi-agency responses to local domestic violence, in particular considering how the introduction of local Crime and Disorder Reduction Partnerships (CDRP) in the UK in the late 1990s affected service provision. Using a longitudinal case study, the article considers how feminist ideologies have been supplanted by a combination of judicial processes and bureaucratic politics. These developments are represented by three dominant discourses: ‘criminal justice’, ‘managerialism’ and ‘equalities’; discourses that have had a number of consequences in the implementation of domestic violence policy. The first is that a one-dimensional criminal justice discourse has displaced a feminist political, power and control, analysis. Second, the ascendancy of managerialism has allowed prescriptive short-term performance measurement to prevail over long-term ‘sufferer-orientated’ responses, and finally an ‘equalities’ discourse prioritized perpetrator initiatives and discouraged dissent. The result has been the dominance of the statutory sector, a marginalization of voluntary agencies and a partial alienation of women’s groups; a process which has proved detrimental both to the interests of female sufferers (who form approximately 90 per cent of victims of domestic violence) as well as voluntary agencies