Pre‐operative evaluations for DBS in dystonia

Abstract

In common clinical practice, these outcome measures can be administered in an open-label fashion because double blind assessment is only required for ascertaining new treatment indications or research purposes. The same measures are to be used postoperatively to revaluate outcome after DBS. Brain MRI is required to confirm diagnosis and assess structural abnormalities. Other imaging techniques, particularly functional imaging, are used for research purposes.

The Dyskinesia Impairment Scale: a new instrument to measure dystonia and choreoathetosis in dyskinetic cerebral palsy

“…30 However, their pathophysiology is complex and not fully understood. 31 Therefore, it is hoped that a reliable, valid, and sensitive clinical measurement of dystonia and choreoathetosis may result in the recognition of dyskinesia patterns that can be related to the observed brain lesions, and subsequently may enhance our insight into the pathophysiology of CP in the long term. Such a tool should also help in the evaluation of existing and emerging treatments for children with CP.…”

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

“…Several exhaustive reviews have been published already for the treatment of dystonia with DBS (Speelman et al 2010; Bronte-Stewart et al 2011; Andrews et al 2010; Mills et al 2014; Vidailhet et al 2012; Thobois et al 2011; Holloway et al 2006; Isaias et al 2011; Isaias et al 2008; Fox and Alterman 2015), or the genetics of dystonia (Balint and Bhatia 2015; Lohmann and Klein 2013; Moghimi et al 2013; LeDoux 2012). The reader is directed to these prior reviews for more details.…”

“…Although some studies have found no apparent influence of TOR1A mutations on DBS outcomes, the weight of the evidence suggests that those with mutations respond better than those with undetermined genetic causes (Speelman et al 2010; Bronte-Stewart et al 2011; Andrews et al 2010; Mills et al 2014; Vidailhet et al 2012; Thobois et al 2011; Holloway et al 2006; Isaias et al 2011; Isaias et al 2008; Fox and Alterman 2015). The differences in the conclusions across various studies of TOR1A mutations are likely to reflect relatively small numbers of mutation-positive cases evaluated, and heterogeneity among the mutation-negative cases to which they were compared.…”

“…Outcomes are variable for others such as Lesch-Nyhan disease, Wilson’s disease, Huntington’s disease, and paroxysmal dyskinesias. The list of these disorders and their responsiveness to DBS been reviewed several times (Speelman et al 2010; Bronte-Stewart et al 2011; Andrews et al 2010; Mills et al 2014; Vidailhet et al 2012; Thobois et al 2011; Holloway et al 2006; Isaias et al 2011; Isaias et al 2008; Fox and Alterman 2015), with some focusing specifically on secondary forms (Saleh et al 2013). Although definitive conclusions for many of the combined dystonias are impossible because of the small numbers of cases, these observations provide strong evidence that genetic factors influence outcomes.…”

“…This evidence has been summarized in several comprehensive reviews (Speelman et al 2010; Bronte-Stewart et al 2011; Andrews et al 2010; Mills et al 2014; Vidailhet et al 2012; Thobois et al 2011; Holloway et al 2006; Isaias et al 2011; Isaias et al 2008; Fox and Alterman 2015). Although there are some differences of opinion, the most important factors include a clear diagnosis of dystonia, age at onset, duration of symptoms, lack of serious comorbidities, and whether abnormal movements are fixed, mobile or phasic.…”