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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFPsychiatric, Neurological, and Somatic Comorbidities in Intermittent Explosive Disorder.
JAMA Psychiatry
January 2025
Department of Psychiatry and Behavioral Sciences, Norton College of Medicine, SUNY Upstate Medical University, Syracuse, New York.
Importance: Intermittent explosive disorder (IED) is an understudied psychiatric condition marked by impulsive aggression and poorly regulated emotional control, often resulting in interpersonal and societal consequences. Better understanding of comorbidities can improve screening, diagnosis, and treatment.
Objective: To investigate the prevalence of IED and its associations with psychiatric, neurological, and somatic disorders.
Current practices in MRI screening in early onset scoliosis.
Spine Deform
January 2025
Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).
View Article and Find Full Text PDFMuscle power is associated with higher levels of walking capacity and self-reported gait performance and physical activity in individuals with cerebral palsy.
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.
Robot-assisted upper limb therapy for personalized rehabilitation in children with cerebral palsy: a systematic review.
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.
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