Childhood Dystonia Audit

The Society provided funding to the Evelina Children’s hospital to review its records to assess the impact of childhood dystonia and the results of therapies provided on 2011. This research has now resulted in two important published papers.

The article “Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia.” was published in “Developmental medicine and child neurology” in June 2013.  The article made two important points that are likely to improve the treatment of children with dystonia:

  • Deep brain stimulation (DBS) appears to decline in effectiveness for children with primary dystonia as the proportion of life lived with dystonia grows. Hitherto DBS had been considered a treatment of last resort and so was delayed while other therapies were tried. As a result, the effectiveness of DBS was reduced. There is therefore more urgency in providing DBS than had previously been understood.
  • DBS had been considered ineffective for children with secondary dystonia but the results suggest if it can be done early enough it may be effective. More work needs to be done in this area and the Society has provided additional funding to the Evelina (see Treatment of Secondary Dystonia below).

The article “The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort” was published in the Journal of Neurosurgery and Psychiatry in February 2014. The article clarified a number of points about early-onset dystonia:

  • Acquired dystonia (72% of cases) is far more common than primary dystonia (18%) of cases. Children with secondary had more serious functional impairment.
  • Spasticity was present as comorbidity in only 34% of cases – (N.b. it is sometimes said that dystonia caused by cerebral palsy rarely appears in isolation from spasticity. This establishes that is not the case and that dystonic cerebral palsy is a distinct condition).•    In 60% of cases dystonia was still progressing at time of referral (median 4.8 years after onset). Previously it had been thought dystonia stabilised more quickly.
  • 20% of children with secondary dystonia had a period of normal motor development which improve the prognosis for treatment if timely referral is made.

These results help services offering neurosurgical interventions and health service planning agencies to understand the context and predicament of life with childhood dystonia.

Measuring results of treatment of acquired dystonia

The Dystonia Society provided funding to the Evelina to re-assess the results of DBS for children with acquired dystonia using a new performance measure.

The above results established that early-onset secondary dystonia is both more common and causes more severe functional impairment than early-onset primary dystonia. However, the findings also offered some ground for optimism that, if children with acquired dystonia who have had a period of normal motor development can receive DBS early, at least a degree of symptom mitigation can be provided in some cases.

The Evelina also identified the qualitative finding that parents of children with dystonia reported important functional improvements after DBS even if the main rating scale assessing the severity of dystonia, the BFMDRS, did not show improvement. Given the severity of the disablement, such functional improvements can make a substantial difference to quality of life.

To test this, the Evelina evaluated the results of DBS using a different scale, the Canadian Occupational Performance Measure (COPM). The article “Evaluation of functional goal outcomes using the Canadian Occupational Performance Measure (COPM) following Deep Brain Stimulation (DBS) in childhood dystonia” was published in the “European Journal of Paediatric Neurology” in January 2014. It reported that:

  • The acquired dystonia group achieved significant improvement on the COPM at 6 months for performance and satisfaction scores. In the majority of acquired dystonias, the BFMDRS failed to demonstrate significant improvement.
  • This highlights the insensitivity of the existing scale.

The Evelina group continue to develop this important work which is part of process of intense review of treatment of early-onset dystonias by the Paediatric Movement Disorder Special Interest Group.

Dystonia and mental health

In February 2014, the Dystonia Society provided Warwick Medical School to pilot test an intervention to help people with dystonia manage their mental health.

Prevalence of mental health problems among people with dystonia is very high – one study found that 65% of those with dystonia reported moderate / severe mental health problems (compared to 20% of non-dystonic controls). The relationship is 2-way: dystonia symptoms cause people to have anxiety and depression but also stress and anxiety make the symptoms of dystonia worse. This is a much neglected area – at the 2013 international conference on treatment of dystonia in Hannover, there was not a single session on mental health.  

The project will test a 3-day residential course with the aim of helping people with dystonia experiencing emotional problems cope better with the condition. The tiral intervention will involve a range of medical professionals and will use techniques of cognitive behavioural therapy (CBT) and mindfulness both of which are well established in the treatment of mental health.

The project will complete in March 2015. If the intervention is successful, then Warwick aims to obtain funding from the National Institute of Health Research to develop the idea further. They have an excellent track record of developing such allied healthcare projects.

Hand dystonia

The Society provided funding to the National Hospital for Neurology and Neurosurgery to research the use of hand therapy for the treatment of Focal Hand Dystonia. Results should be available by the end of 2017.