A growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study. Clinically relevant genes were extracted from each study and stratified into 2 tiers based on the quality. Eighteen studies were included. There was high confidence in the reported cerebral palsy description/phenotype from 8 studies. Of the initial 373 clinically relevant genes, 85 were tier II genes. Individual cerebral palsy motor disorder and phenotype data were absent for 349 of these individuals, limiting further analysis. The tier I gene list was composed of 6 genes: , , , , , and . Bilateral spasticity was the most common motor disorder reported in individuals with variants in all 6 genes, and most individuals had accompanying conditions. Prioritizing the accurate reporting of motor and nonmotor phenotypes is crucial for future cerebral palsy genetic studies to further understand the underlying neurobiology.
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http://dx.doi.org/10.1177/08830738241277231 | DOI Listing |
Soft Matter
January 2025
School of Environmental, Civil, Agricultural and Mechanical Engineering, College of Engineering, University of Georgia, Athens, GA 30602, USA.
The surface morphology of the developing mammalian brain is crucial for understanding brain function and dysfunction. Computational modeling offers valuable insights into the underlying mechanisms for early brain folding. Recent findings indicate significant regional variations in brain tissue growth, while the role of these variations in cortical development remains unclear.
View Article and Find Full Text PDFJ Child Lang
January 2025
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
To investigate how a high risk for infant neurological impairment affects the quality of infant verbal interactions, and in particular properties of infant-directed speech, spontaneous interactions between 14 mothers and their 4.5-month-old infants at high risk for neurological disorders (7 female) were recorded and acoustically compared with those of 14 dyads with typically developing infants (8 female). Mothers of at-risk infants had proportionally less voicing, and the proportion of voicing decreased with increasing severity of the infants' long-term outcome.
View Article and Find Full Text PDFAm J Phys Med Rehabil
February 2025
From the Centre for Translational Medicine, Semmelweis University, Budapest, Hungary (OZG, MV, MAE, LS, ZM, PH, TT); Department of Orthopaedics, Semmelweis University, Budapest, Hungary (OZG, MV, TT); Department of Anesthesiology and Intensive Therapy, Semmelweis University, Budapest, Hungary (ZM); Department of Anesthesiology and Intensive Therapy, Poznan University for Medical Sciences, Poznan, Poland (ZM); and Institute of Pancreatic Diseases, Semmelweis University, Budapest, Hungary (PH).
Objectives: This systematic review and meta-analysis of randomized controlled trials aimed to summarize the reported functional effects of upper limb botulinum toxin treatment in children with spastic cerebral palsy.
Design: Six databases were searched in October 2022. Two independent authors screened and extracted data on upper limb function, body function, life quality, muscle tone, spasticity, goals, pain, adverse events, and client satisfaction.
BMC Pediatr
January 2025
Department of Developmental and Behavioral Pediatrics, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Background: Most previous studies have focused on the clinical efficacy after intervention of ESDM, particularly in core symptoms. However, only a few have paid attention to the effectiveness of ESDM on emotional dysregulation and behavior problems in children with ASD. This study aimed to explore the effect of the ESDM on addressing emotional dysregulation and behavior problems in children with ASD in China, as well as its correlation with core symptoms of ASD.
View Article and Find Full Text PDFPLoS One
January 2025
Clinic for Orthopaedics, Heidelberg University Hospital, Heidelberg, Germany.
Duchenne gait, characterized by an ipsilateral trunk lean towards the affected stance limb, compensates for weak hip abductor muscles, notably the gluteus medius (GM). This study aims to investigate how electromyographic (EMG) cluster analysis of GM contributes to a better understanding of Duchenne gait in patients with cerebral palsy (CP). We analyzed retrospective gait data from 845 patients with CP and 65 typically developed individuals.
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