Botulinum Toxin Type A: Efficacy and Safety Profile in the Treatment of Lower Limb Spasticity in Children with genetic Disorders

Background: Botulinum toxin type A (BTX-A) is a well-established therapeutic modality for the treatment of lower limb spasticity in children with cerebral palsy. There is paucity of evidence about its effectiveness and safety in genetic disorders. Objective: To assess the functional outcomes and safety of BTX-A injection for the treatment of lower limb spasticity in children with genetic disorders. Methods: : We conducted a retrospective chart review for history, demographic data, comorbidities, neurological examination, and neuroimaging findings for all patients diagnosed with genetic disorders from December 2020 to December 2022 in Ain Shams university hospital database. Outcome assessment were the Gross Motor Function Classification system (GMFCS) for Cerebral Palsy "Initially and after 6 months' post-treatment", the Modified Ashworth scale (MAS) "initially and at 1,3,6 month post-treatment" and the achieved preset functional goals using the Goal Attainment Scaling (GAS) at 4-6 months post-treatment. Results: : A total of 90% of the patients showed improvement in their GAS scores, 20% achieving the preset goal, 55% achieving a better outcome than anticipated and 15% achieving the best possible outcome. Furthermore, the GMFCS and MAS scores showed a significant statistical improvement after six months post-injection (p=0.02, p=0.03), respectively. None of the patients developed serious adverse effects except a child diagnosed with mitochondrial cytopathy. Conclusion: BTX-A injections were effective and showed a high safety profile in children with genetic disorders. To our knowledge, this is the first study that specifically targets this patient population, filling a gap in the literature and providing valuable insights into the potential benefits of BTX-A injections for this group. However, further large-scale studies are recommended to confirm these findings.