Journey from theory to practice: Setting up a Huntington Disease service in Romania

Abstract

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder that has benefited from considerable research during the last two decades and the progress made is remarkable.Clinical diagnosis is based on symptoms and signs that include motor signs (i.e. chorea, hypokinesia, dystonia, tics), psychiatric aspects (e.g. depression, anxiety, irritability, mania, apathy, psychosis) and cognitive decline (e.g. executive functioning). The motor signs, mainly unwanted movements, remain the most characteristic and specific for a clinical diagnosis (Roos, 2014). Although the motor symptoms are immediately evident, psychiatric and cognitive symptoms contribute significantly to patients' impaired functioning and have great impact on their daily lives (Craufurd & Snowden, 2014; Tabrizi et al., 2013).Genetic testing by direct mutation analysis has been available for more than two decades (The Huntington's Disease Collaborative Research Group, 1993) and can be used either to confirm a clinical diagnosis of HD in symptomatic people or to predict whether or not an at-risk person will go on to develop HD.Currently there are a number of guidelines and standards of care available that take into account the complexity of HD and suggest best practice models for the assessment, diagnosis, management and counseling of this condition that have been shown to be effective and acceptable for patients and families (Craufurd et al., 2015; Semaka & Hayden, 2014; Losekoot et al., 2013). In fact, multidisciplinary teams in numerous centers have contributed to the significant advances we are continuously seeing in HD research and every day life of HD families. The aim of this paper is to discuss our progress in developing the first HD multidisciplinary clinic in Romania.Journey from theory to practiceProfessionals familiar with HD are very much aware of the complexity of this condition, its clinical features and the main implications for patients and families. Therefore, for most professionals it is rather reassuring to be able to rely on international guidelines when managing patients' care, to discuss challenging cases with more experienced colleagues, or to adapt existing services that are in place for similar conditions. Not being able to do either can bring one very close to helplessness.In Romania, most often, HD families see a neurologist or a psychiatrist that have seen very few HD patients their whole career. The family history is rarely available or helpful. Patients are in most cases not aware of any previous HD in the family and seem to vaguely identify relatives with dementia-like, schizophrenia-like or Parkinson's like symptoms. DNA analysis would probably be the most reasonable step at this stage; unfortunately that it is not available. The healthcare system has yet to concentrate on so many other priorities and genetic centers are not entirely functional yet. The Romanian Health Ministry has set up in 2014 a national network for genetic medicine that includes six regional centers (Ministerial order nr. 1358/2014). The centers struggle to become fully functional because of insufficient funding, equipment and expertise. Specialist outpatient clinics are another problematic aspect as they are not available in each center, which clearly makes patients' access to adequate healthcare difficult. Having said that, it is no surprise that there is no national or regional registry for most genetic conditions and very few specialist genetic services are in place (none for HD).In our country, generally, a patient with HD symptoms is referred to a neurology or psychiatry service, depending on their symptoms, and is treated as a neurological or psychiatric patient. Diagnosis is most often confirmed with genetic testing which is not funded and is only available in private practice (the cost for genetic testing for HD is around 100 Eur). Once the diagnosis is confirmed, most patients are treated under the care of a psychiatrist or a neurologist. …