Publications by authors named "Alexandra Santana-Almansa"
Motor phenotypes associated with genetic neurodevelopmental disorders.
Ann Clin Transl Neurol
December 2024
Article Synopsis
- Researchers are studying monogenic disorders linked to neurodevelopmental disorders (NDDs) like autism and intellectual disability, which often include motor impairments.
- They analyzed data from 959 patients with 57 genetic disorders, finding that many had low motor standard scores and notable delays in motor milestones like sitting and walking.
- The study revealed a range of motor issues among patients, including common conditions like hypotonia and cerebral palsy, highlighting the need for more detailed investigation into these motor phenotypes.
Objective: Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders.
Methods: We enrolled participants with CP and "CP masquerading" conditions in an institutional ES initiative.
Objective: Focal cortical dysplasia (FCD) is a common pathology in focal drug resistant epilepsy (DRE). Voxel based morphometric MRI analysis has been proposed as an adjunct to visual detection of FCD, which remains challenging given the subtle radiographic appearance of FCD. This study evaluates the diagnostic value of morphometric analysis program (MAP) in focal DRE with pathology-confirmed FCD.
View Article and Find Full Text PDFCaffeine is a potent psychostimulant that can have significant and widely variable effects on the activity of multiple neuronal pathways. The most pronounced caffeine-induced behavioral effect seen in rodents is to increase locomotor activity which has been linked to a dose-dependent inhibition of A1 and A(2A) receptors. The effects of caffeine at the level of the lumbar spinal central pattern generator (CPG) network for hindlimb locomotion are lacking.
View Article and Find Full Text PDF