Aim The aim of this study was to examine the impact of dystonia aetiology and duration, contracture, and age at deep brain stimulation (DBS) surgery on outcome in a cohort of children with medically refractory, disabling primary, secondary‐static, or secondary‐progressive dystonias, including neurodegeneration with brain iron accumulation (NBIA). Method Dystonia severity was assessed using the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) motor score at baseline and 6 and 12 months postoperatively in a cohort of 70 consecutive children undergoing DBS between June 2005 and July 2011. Results Two children (3%) received unilateral DBS for hemidystonia and were excluded and five (7%) developed infections requiring part‐DBS removal within 6 months, leaving 63 children (90%) undergoing bilateral DBS for follow‐up (34 males, 29 females; mean age at surgery for the whole group 10y 4mo, SD 4y 2mo, range 1–14y). Seventeen children were classified with primary dystonia: mean age 12 years 11 months, SD 4 years 6 months range 4 years 6 months to 17 years 3 months; 28 as having secondary‐static dystonia: mean age 10 years 2 months, SD 4 years 9 months (range 3y 3mo–20y); five as having secondary‐progressive dystonia: mean age 8 years 11 months, SD 3 years 9 months (range 5y 5mo–13y 1mo); and 13 as having NBIA dystonia: mean age 10 years 2 months, SD 3 years 11 months (range 1–14y). Children with primary dystonias demonstrated greater improvements in BFMDRS motor score than those in the other aetiological categories (Kruskal–Wallis test, p<0.001), which correlated negatively with dystonia duration and more strongly still against the ratio of dystonia duration normalized to age at surgery (DD/AS ratio) at 1 year (Spearman's rank correlation coefficient 0.4752 and −0.599 respectively). A similar significant negative correlation was found in the secondary‐static dystonia group between outcome at 1 year and DD/AS ratio (−0.461). Poorer outcome in secondary dystonia coincided with the absence of a period of normal motor development in comparison with the primary dystonia group. A significant improvement in BFMDRS motor score was seen in the NBIA group at 6, but not 12 months (Wilcoxon signed rank test p=0.028, p=0.85 respectively). No reduction in efficacy was seen in children with a musculoskeletal deformity at the time of surgery. Conclusion Response to pallidal DBS in the treatment of dystonia declines with the proportion of life lived with dystonia in primary and secondary dystonia. Other intrinsic factors reduce the median magnitude of reduction in secondary dystonia after DBS. DBS should be offered early, preferably within 5 years of onset, to maximize benefits and reduce the childhood experience of dystonia, including musculoskeletal deformity. Other multidimensional assessments are required to understand how DBS improves the lives of children with dystonia.

No abstract

In this selective cohort, childhood dystonia is severe, presenting early before worsening without remission. Secondary dystonias spend a higher proportion of life living with dystonia and lower functional capacity. Despite referral bias, services offering neurosurgical interventions and health service planning agencies should understand the context and predicament of life with childhood dystonia.

No abstract

No abstract

No abstract

ObjectiveThis proof-of-concept feasibility trial examined the potential of the Cognitive Orientation to daily Occupational Performance Approach (CO-OP) to augment deep brain stimulation (DBS) outcomes in childhood-onset hyperkinetic movement disorders (HMD) including dystonia and dyskinetic cerebral palsy. MethodsThis is a single case experimental design using multiple baseline as n-of-1 trial comprising 10 intervention sessions, with replications across participants (n = 10). Treatment focused on 3 participant-selected goals. Transfer was assessed on 2 additional untreated goals. Individuals enrolled were 6-21 years of age and had DBS in situ and sufficient manual ability. Primary outcome was functional performance change on the Performance Quality Rating Scale-Individualized (PQRS-i) measured before, during, and posttreatment, and at 3-month followup. Assessors of outcome were blinded to time of assessment, number of intervention session, and treatment allocation. To measure effect size, a nonoverlapping index, Tau-U, was used. Feasibility measures were captured. ResultsOne participant withdrew before baseline assessment. Effect sizes of at least 0.66 were seen at both posttreatment and follow-up with all participants showing improvements in at least one trained goal in PQRS-i. Six participants improved on all 3 goals and 2 improved on 2 trained goals. Two children showed deterioration in one trained goal each. Transfer to untrained goals was observed in 3 participants for a total of 5 goals. CO-OP was feasible and acceptable to all participants. ConclusionA cognitive-based, task-oriented approach to support performance of personally relevant functional skills enabling participation is acceptable in childhood-onset HMD post-DBS. Further, preliminary efficacy to improve outcomes and proof of concept with CO-OP has been established in this population. Classification of evidenceThis study provides Class IV evidence that for children with HMD who had undergone DBS, CO-OP improves performance of personally relevant functional skills.

No abstract