Disclosures: Caroline Gormley: No financial relationships or conflicts of interest
Case Description: Children with ADCY5, a rare genetic condition that causes dyskinesias, usually have normal cognition, but significant facial dyskinesias and dysarthria. This case study reports the functional changes in an 8-year-old girl with ADCY5 gene mutation related dyskinesia who was treated with a deep brain stimulator (DBS).
Setting: Large pediatric rehabilitation hospital
Patient: Eight-year-old girl with ADCY5 gene mutation and related dyskinesia Assessment/
Results: This patient initially presented with abnormal lower extremities twitching around 2 months old, progressing to abnormal facial, tongue, and extremity movements. The patient’s speech was approximately 60% intelligible before DBS and 75% after DBS. Although her speech intelligibility only improved modestly, her speech production improved dramatically. Assistive speech devices, including microphones, were used in school before DBS and are not needed after DBS which improved initiation of conversations and interactions with peers. The patient can now share multi-sentence stories about her day and speak intelligibly over the phone. Before DBS, the patient was able to ambulate without an assistive device for approximately 25 feet and after DBS approximately 50 feet with significantly improved balance and coordination.
Discussion: DBS rarely improves speech production and quality in children with dystonia/dyskinesias. Children with secondary dystonia often have minimal to moderate motor improvements. Both this patient’s speech and motor function significantly improved with a DBS.
Conclusion: This study demonstrates that children with ADCY5 related dyskinesias may have improvements in both speech and motor function with DBS treatment. This case study elucidates a potential patient population where DBS could be particularly beneficial.
Level of Evidence: Level V
To cite this abstract in AMA style:
Gormley C, Deshpande S, Gladstone E. Deep Brain Stimulator Improves Speech Articulation in a Child with ADCY5 Gene Mutation [abstract]. PM R. 2020; 12(S1)(suppl 1). https://pmrjabstracts.org/abstract/deep-brain-stimulator-improves-speech-articulation-in-a-child-with-adcy5-gene-mutation/. Accessed September 7, 2024.« Back to AAPM&R Annual Assembly 2020
PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/deep-brain-stimulator-improves-speech-articulation-in-a-child-with-adcy5-gene-mutation/