Laura Cif, Diane Demailly, Claire Gehin, Emilie Chan Seng, Morgan Dornadic, Sophie Huby, Gaetan Poulen, Agathe Roubertie, Matthieu Villessot, Thomas Roujeau, Philippe Coubes
BACKGROUND: Cerebral Palsy (CP) represents a frequent cause of disability in childhood. Early in life, genetic disorders may present with motor dysfunction and diagnosed as CP. Establishing the primary, genetic etiology allows more accurate prognosis, genetic counselling, and planning for symptomatic interventions in homogeneous etiological groups. Deep brain stimulation (DBS) is recommended in refractory movement disorders, including isolated pediatric dystonias. For dystonia evolving in more complex associations in genetic CP, the effect of DBS is still understudied and currently only sporadically described...
January 2023: Molecular Genetics and Metabolism