Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background And Objectives: The clinical spectrum of spinal muscular atrophy (SMA) is heterogenous and depends on several factors. This study aimed to investigate the correlation between the motor outcomes and genetic modifiers of SMN1 gene.
Methods: In this cross-sectional study, children with genetically confirmed diagnosis of SMA were enrolled. Motor outcomes were assessed using standard age-appropriate scale (Children's Hospital of Philadelphia infant test of neuromuscular disorders [CHOP], Revised Hammersmith Scale [RHS], and Medical Research Council [MRC] sum score). The copy numbers of SMN1, SMN2, and NAIP genes were estimated using multiplex ligation probe analysis.
Results: Fifty children with SMA (26 males), with a mean age of 36 (17-84) months, were enrolled. Late-onset subtypes of SMA (types 2 and 3) constituted 78% of cases. The mean ± standard deviation (SD) CHOP score of children with type 1 SMA having one, two, and three copies of SMN2 gene exon 7 was 24 ± 5, 24 ± 8, and 35 ± 13, respectively. The mean ± SD RHS score of children with type 2 and 3 SMA was 32 ± 16, 29.4 ± 17, 37.8 ± 16, 56 ± 4 among children having two, three, four, and five copies of SMN2 gene exon 7. The RHS score and MRC sum score correlated significantly with SMN2 gene exon 7 copy numbers (p < 0.05). Homozygous deletion of NAIP gene was significantly higher in children with type 1 SMA compared to those with type 2 and 3 SMA (p value- 0.006).
Conclusions: The SMN2 gene exon 7 copy numbers correlate significantly with motor outcomes in children with SMA. NAIP gene deletion negatively influences the disease severity. NAIP gene can serve as a biomarker for disease prognostication.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393850 | PMC |
| http://dx.doi.org/10.4103/aian.aian_974_24 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cathodal High-Definition Transcranial Direct Current Stimulation Primed Intermittent Theta-Burst Stimulation for Upper Limb Motor Recovery in Stroke: A secondary analysis.
Arch Phys Med Rehabil
September 2025
Department of Rehabilitation Medicine, Wuxi Central Rehabilitation Hospital, The Affiliated Mental Health Center of Jiangnan University, Wuxi, Jiangsu, China. Electronic address:
Objective: To identify baseline factors linked to a positive response to intermittent theta-burst stimulation (iTBS) in individuals with stroke.
Design: Secondary analysis of a randomized controlled trial.
Setting: A single rehabilitation hospital.
Systematic Review of Experimental Studies in Humans on Transcranial Temporal Interference Stimulation.
J Neural Eng
September 2025
Eindhoven University of Technology, De Rondom 70, Eindhoven, 5612 AP, NETHERLANDS.
Transcranial temporal interference stimulation (tTIS) has recently emerged as a non-invasive neuromodulation method aimed at reaching deeper brain regions than conventional techniques. However, many questions about its effects remain, requiring further experimental studies. This review consolidates the experimental literature on tTIS's effects in the human brain, clarifies existing evidence, identifies knowledge gaps, and proposes future research directions to evaluate its potential.
View Article and Find Full Text PDFResponsiveness of the "PROM Pediatric Physical Therapy" in Dutch Pediatric Physical Therapy Practices.
Pediatr Phys Ther
September 2025
Radboud University Medical Center, Amalia Children's Hospital, Department of Rehabilitation, Pediatric Physical Therapy, Nijmegen, the Netherlands (Ms Hoogveld and Dr Janssen); Radboud University Medical Center, Department of Rehabilitation, Nijmegen, the Netherlands (Dr van der Wees); Radboud Unive
Purpose: To investigate the responsiveness of the patient-reported outcome measure pediatric physical therapy (PROM-ppt), a questionnaire used to also stimulate shared decision making in Dutch pediatric physical therapy practices.
Methods: Children completed the PROM-ppt at intake and 3 months after intervention or post-intervention. Reported problems were categorized as motor or pain related goals for intervention.
Analysis of United Network for Organ Sharing: Neurodevelopmental Outcomes of Mechanical Circulatory Support as a Bridge-to-Transplantation in Pediatric Heart Transplant Recipients.
World J Pediatr Congenit Heart Surg
September 2025
Congenital Heart Center, Departments of Surgery and Pediatrics, University of Florida, Gainesville, FL, USA.
This analysis evaluates the longitudinal impact of extracorporeal membrane oxygenation (ECMO) and ventricular assist device (VAD) on the progression of motor delay and cognitive delay in pediatric heart transplant recipients. The United Network for Organ Sharing Registry was queried for pediatric patients (<18 years) who received a heart transplant between 2008 and 2022 and were bridged-to-transplantation with either ECMO or VAD. Patients were further stratified based on the progression of delay status pretransplant to post-transplant.
View Article and Find Full Text PDFHistologic Chorioamnionitis and Neurodevelopment in Preterm Infants.
JAMA Netw Open
September 2025
Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Importance: Exposure to inflammation from chorioamnionitis places the fetus at higher risk of premature birth and may increase the risk of neurodevelopmental impairments, though the evidence for the latter is mixed.
Objective: To evaluate whether moderate to severe histologic chorioamnionitis (HCA) is directly associated with adverse motor performance, independent of the indirect mediating effects of premature birth.
Design, Setting, And Participants: This prospective, population-based cohort study recruited participants between September 16, 2016, and November 19, 2019, from referral and nonreferral neonatal intensive care units of 5 southwestern Ohio hospitals.