TY - JOUR
T1 - Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases
T2 - Current Practice illustrated by Two Cases
AU - van de Pol, L.A.
AU - Garofalo, Martinica
AU - Beudel, Martijn
AU - Dijk, Joke M.
AU - Bonouvrié, Laura A.
AU - Buizer, Annemieke I.
AU - Geytenbeek, Joke
AU - Prins, Rosanne H. N.
AU - Schuurman, P. Rick
N1 - Funding Information: MB was awarded the TKI-PPP grant in 2021. AIB is the chair of the board of the Dutch Academy of Childhood Disability. JMD was awarded the Netherlands Organization for Health Research and Development grant and a Medtronic grant. JMD is the president of the Netherlands workgroup for Movement Disorders. PRS was awarded consulting fees from Boston Scientific, Medtronic, Elekta and lecture fees from Boston Scientific and Elekta. PRS is the treasurer of the European Society for Stereotactic and Functional Neurosurgery, an associate editor of the Journal of Parkinson’s Disease and is in the advisory board of Boston Scientific and Insightec. Publisher Copyright: © 2023 Hippokrates Verlag GmbH. All rights reserved.
PY - 2023/2
Y1 - 2023/2
N2 - Background Dystonia is characterized by sustained or intermittent muscle contractions, leading to abnormal posturing and twisting movements. In pediatric patients, dystonia often negatively influences quality of life. Pharmacological treatment for dystonia is often inadequate and causes adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children. Methods To illustrate the current clinical practice, we hereby describe two pediatric cases of monogenetic movement disorders presenting with dystonia and treated with DBS. We provide a literature review of similar previously described cases and on different clinical aspects of DBS in pediatric dystonia. Results The first patient, a 6-year-old girl with severe dystonia, chorea, and myoclonus due to an ADCY5 gene mutation, received DBS in an elective setting. The second patient, an 8-year-old boy with GNAO1-related dystonia and chorea, underwent emergency DBS due to a pharmacoresistant status dystonicus. A significant amelioration of motor symptoms (65% on the Burke-Fahn-Marsden Dystonia Rating Scale) was observed postoperatively in the first patient and her personal therapeutic goals were achieved. DBS was previously reported in five patients with ADCY5-related movement disorders, of which three showed objective improvement. Emergency DBS in our second patient resulted in the successful termination of his GNAO1-related status dystonicus, this being the eighth case reported in the literature. Conclusion DBS can be effective in monogenetic pediatric dystonia and should be considered early in the disease course. To better evaluate the effects of DBS on patients' functioning, patient-centered therapeutic goals should be discussed in a multidisciplinary approach.
AB - Background Dystonia is characterized by sustained or intermittent muscle contractions, leading to abnormal posturing and twisting movements. In pediatric patients, dystonia often negatively influences quality of life. Pharmacological treatment for dystonia is often inadequate and causes adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children. Methods To illustrate the current clinical practice, we hereby describe two pediatric cases of monogenetic movement disorders presenting with dystonia and treated with DBS. We provide a literature review of similar previously described cases and on different clinical aspects of DBS in pediatric dystonia. Results The first patient, a 6-year-old girl with severe dystonia, chorea, and myoclonus due to an ADCY5 gene mutation, received DBS in an elective setting. The second patient, an 8-year-old boy with GNAO1-related dystonia and chorea, underwent emergency DBS due to a pharmacoresistant status dystonicus. A significant amelioration of motor symptoms (65% on the Burke-Fahn-Marsden Dystonia Rating Scale) was observed postoperatively in the first patient and her personal therapeutic goals were achieved. DBS was previously reported in five patients with ADCY5-related movement disorders, of which three showed objective improvement. Emergency DBS in our second patient resulted in the successful termination of his GNAO1-related status dystonicus, this being the eighth case reported in the literature. Conclusion DBS can be effective in monogenetic pediatric dystonia and should be considered early in the disease course. To better evaluate the effects of DBS on patients' functioning, patient-centered therapeutic goals should be discussed in a multidisciplinary approach.
KW - ADCY5 gene
KW - GNAO1 gene
KW - deep brain stimulation
KW - monogenetic movement disorders
KW - pediatric dystonia
KW - status dystonicus
UR - http://www.scopus.com/inward/record.url?scp=85140851520&partnerID=8YFLogxK
U2 - https://doi.org/10.1055/a-1959-9088
DO - https://doi.org/10.1055/a-1959-9088
M3 - Article
C2 - 36223877
SN - 0174-304X
VL - 54
SP - 44
EP - 52
JO - Neuropediatrics
JF - Neuropediatrics
IS - 1
ER -