Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways.
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http://dx.doi.org/10.1016/j.ebiom.2024.105229 | DOI Listing |
Front Physiol
January 2025
Department of Physical Therapy, Louisiana State University Health Sciences Center- New Orleans, New Orleans, LA, United States.
Introduction: The purpose of this study was to investigate the relationships between a Power Leg Press test (PLP) with walking capacity and self-reported performance and participation in individuals with Cerebral Palsy (CP), and to compare the strength of the associations between two power tests (PLP and isokinetic (IsoK)) with walking capacity.
Methods: Ambulatory individuals with CP (n = 33; age 17.89 ± 7.
Front Neurol
January 2025
Department of Oral Medical Science and Biotechnology, Physical and Rehabilitation Medicine, BIND, CARES, University "G. d'Annunzio" of Chieti-Pescara, Chieti, Italy.
Introduction: Cerebral palsy (CP) is a group of permanent disorders of movement development that may cause activity limitations. In this context, robot-assisted therapy might play a key role in clinical management. This comprehensive systematic review aimed to investigate the efficacy of robotic systems in improving upper limb (UL) functions in children with CP.
View Article and Find Full Text PDFF1000Res
January 2025
Exercise Physiology and Rehabilitation Laboratory, University of Picardy Jules Verne, Amiens, Hauts-de-France, France.
Background: Cerebral palsy (CP) is a neurological disorder that can affect motor skills and psychophysiological well-being. Virtual Reality Exercise (VRE) improves cognitive and physical outcomes in patients with CP. Therefore, this study aimed to investigate the effects of VRE on attention, vigor, and decision-making abilities in adolescents with CP.
View Article and Find Full Text PDFEur J Trauma Emerg Surg
January 2025
Orthopedic Clinic Olgahospital, Klinikum Stuttgart, Kriegsbergstraße 62, 70173, Stuttgart, Germany.
Background: Pediatric femoral neck fractures (PFNF) are rare but associated with a high rate of serious complications such as avascular femoral head necrosis (AVN). Major risk factors and prognostic tools for an AVN are still unclear. As AVN is a devastating complication, this study aims to evaluate the predictors for AVN following a PFNF.
View Article and Find Full Text PDFMamm Genome
January 2025
The Gene Therapy Research Institute, CTNNB1 Foundation, Ljubljana, 1000, Slovenia.
CTNNB1 syndrome is a rare neurodevelopmental disorder, affecting children worldwide with a prevalence of 2.6-3.2 per 100,000 births and often misdiagnosed as cerebral palsy.
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