Objective: To report on a subgroup of DCP patients with delayed onset of dystonia who received DBS therapy.

Background: Dyskinetic cerebral palsy (DCP) is the second most frequent subtype (15-20%) of CP. DCP definition currently includes only dystonia and choreoathetoid-CP. Nevertheless, DCP demonstrates heterogeneity in terms of clinical presentation, degree and distribution of brain insult and, response to various therapies, including deep brain stimulation (DBS).

Methods: The following inclusion criteria were defined: documented hypoxic insult at birth and delayed development of dystonia. In this DCP subgroup, delivery and clinical condition at birth, time of achievement of milestones, distribution of anatomical sequelae, age at development of dystonia, motor phenotype and family history were documented as well as response to GPi DBS.

Results: Five (two male) out of 51 DCP patients recruited for DBS in a tertiary care centre were included. The five patients had normal achievement of milestones. Mean of age at dystonia onset was 10.2 years (range 6-16). Symptom distribution was axial prominent, with major neck and trunk involvement. Additionally, spasmodic dysphonia, upper limb dystonia and dystonic tremor were common features, while gait remained autonomous. Brain MRI showed discrete lesions involving mainly the posterior putamen. None of the patients presented with a family history of movement disorders and features pointing to other causes of acquired dystonia. TOR1A gene mutation was negative and THAP1 gene mutations are under investigation for the 5 subjects. Mean of age at DBS was 21.4 (range, 14-34) and length of follow-up with DBS is 13.1 years (9.5-15.5). Mean Burke- Fahn- Marsden dystonia motor and disability scores (M-BFMDRS, D-BFMDRS) were 26.9 and 10.4 respectively, at baseline, of 3.2 and 2.4 at one-year follow-up and, of 7.8 and 0.8, at last assessment. The five patients highly benefited from GPi-DBS: three adults currently professionally active and the youngest patient is in regular high school.

Conclusions: Further characterisation of DCP is necessary to define predictive factors of good prognosis to DBS, in this important population with a very common neuromotor disability. Delayed occurrence of dystonia following normal achievement of milestones and axial prominent symptoms could represent factors of good prognosis for DBS therapy.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/axial-prominent-delayed-onset-dystonia-in-cerebral-palsy-highlights-on-a-distinct-phenotype-with-favorable-outcome-following-deep-brain-stimulation/