Evolution of Functional and Paraclinical Markers as Predictive Factors in Pediatric Late-Onset SMA Under Nusinersen Treatment: The Role of CSF pNF-H DOI Creative Commons

Mihaela Badina,

Gabriel Cristian Bejan, Corina Sporea

и другие.

Balneo and PRM Research Journal, Год журнала: 2024, Номер 15(Vol.15, no. 4), С. 755 - 755

Опубликована: Дек. 22, 2024

Spinal Muscular Atrophy (SMA) is a rare neurodegenerative disease caused by insufficient synthesis of SMN protein, characterized progressive muscle weakness, atrophy, and complications affecting the respiratory digestive systems. Disease severity tends to be greater when symptoms manifest at an earlier age. Since 2016, FDA-approved drug nusinersen has provided disease-modifying treatment option. Identifying predictive factors for patient outcomes over time remains essential. This retrospective study analyzed clinical biological parameters in 42 patients (ages 13–215 months) with SMA types 2 3 first three years treatment. We assessed pNF-H levels CSF serum—neuronal proteins associated neurodegeneration—as well as serum creatinine levels, marker activity, motor skill scores evaluate pNF-H’s potential predictor development. Elevated were lower SMN2 gene copy number more recent onset. Following treatment, stabilized low values, likely due basal metabolic activity. In 3, higher baseline correlated improved performance time. Additionally, smaller changes during loading phase or various periods maintenance better development two

Язык: Английский

Parenting Styles and Parental Self-Efficacy in Parents of Children with Neurological Disorders DOI Creative Commons

Ioana Elena Cioca,

Maria Veronica Morcov, Corina Sporea

и другие.

Balneo and PRM Research Journal, Год журнала: 2025, Номер 16(Vol 16 No. 1), С. 778 - 778

Опубликована: Март 31, 2025

This study examines the influence of different parenting styles on parental self-efficacy in families with children diagnosed neurologic disorders. Specifically, it explores correlation between five distinct styles—authoritarian, authoritative, permissive, perfectionist, and uninvolved—and confidence managing challenges associated raising disabilities. The involved 134 parents disorders was conducted a specialized medical rehabilitation center for Bucharest, Romania. Data collected using Parenting Style Questionnaire (PSQ) Brief Parental Self-Efficacy Scale (BPSES). Statistical analyses were performed Spearman's rank-order coefficient (Spearman's rho) to assess monotonic relationships, complemented by nonlinear regression modeling evaluate predictive associations. results showed statistically significant correlations across genders educational levels. Moderate negative found authoritarian style both men (p < 0.001, r = -0.581) women -0.519). A moderate positive observed authoritative 0.525). Furthermore, moderately negatively correlated university education -0.601) pre-university -0.530). Regression analysis indicated that predictor diminished self-efficacy, explaining 32.7% variance outcomes. findings suggest understanding impact is crucial designing targeted interventions improve confidence, particularly may be increased intervention programs encourage techniques while lowering inclinations. For kids neurological diseases, this can therefore result better coping strategies, enhanced parent-child developmental psychological results.

Язык: Английский

Процитировано

0

Biomarker Evolution in Pediatric SMA: Insights from CSF pNF-H Dynamics and SMN2 Copy Number During Nusinersen Therapy DOI Creative Commons

Mihaela Badina,

Gabriel Cristian Bejan,

Andrada Mirea

и другие.

Balneo and PRM Research Journal, Год журнала: 2025, Номер 16(Vol 16 No. 1), С. 777 - 777

Опубликована: Март 31, 2025

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by insufficient survival motor neuron (SMN) protein synthesis, leading to progressive loss and debilitating symptoms. This study evaluates cerebrospinal fluid (CSF) phosphorylated neurofilament-heavy chain (pNF-H) levels as predictive markers of function in 73 pediatric SMA patients undergoing nusinersen treatment. pNF-H, structural component neurons, released into the CSF serum during neuronal damage or degeneration. aims address this gap assessing pNF-H dynamics relation changes over course It examines evolution different time periods initial clinical biological parameters their progression at start treatment response therapy. Patients were stratified SMN2 gene copy number, which modulates disease severity inversely correlated with higher indicating more neurodegeneration. also function, baseline linked lower scores. During treatment, declined alongside improvements, supporting its role longitudinal biomarker. In 2 copies, larger early variations predicted better gains 1 years, while smaller maintenance improvement. 3 fluctuations associated scores, along creatinine years. Longitudinal analyses revealed that sustained decreases enhanced outcomes. The highlights level robust predictor efficacy, offering insights therapeutic impact. These findings underscore critical intervention personalized biomarker monitoring optimizing quality life for patients.

Язык: Английский

Процитировано

0

The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era DOI Creative Commons
Marianna Maretina,

V. I. Koroleva,

Л. М. Щугарева

и другие.

Biomedicines, Год журнала: 2024, Номер 12(11), С. 2486 - 2486

Опубликована: Окт. 30, 2024

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an approved treatment for all forms of the disease. Previously, biomarkers were primarily used diagnostic purposes, such as detecting presence disease or determining specific clinical type SMA. Currently, with availability therapy, have become more valuable due to their potential prognostic, predictive, and pharmacodynamic applications. This review describes most promising physiological, functional, imaging molecular SMA, derived from different patients' tissues. The summarizes information about classical are already in practice well fresh findings on been recently disclosed. It highlights usefulness, limitations, strengths each biomarker, indicating purposes which best suited when combining them may be beneficial.

Язык: Английский

Процитировано

1

Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients DOI Creative Commons

Mihaela Badina,

Andrada Mirea,

Corina Sporea

и другие.

Balneo and PRM Research Journal, Год журнала: 2024, Номер 15(Vol.15, no. 4), С. 754 - 754

Опубликована: Дек. 22, 2024

Werdnig-Hoffmann disease, or type 1 Spinal Muscular Atrophy (SMA), is caused by insufficient SMN protein synthesis due to a genetic defect. Symptoms appear within the first 6 months of life, and without ventilatory support, life expectancy averages 2 years. This study aimed monitor pNF-H neurofilament levels in cerebrospinal fluid (CSF) serum, serum creatinine, motor performance during nusinersen treatment evaluate as predictor outcomes. Biological samples clinical outcomes from 34 participants were analyzed at months, year, years, 3 years post-treatment initiation. Most patients showed favorable outcomes, with improved assessment scores, increased decreased CSF serum. Higher baseline was linked fewer SMN2 gene copies. The largest decrease occurred loading period, stabilizing low through maintenance. Smaller changes correlated better higher creatinine Nusinersen reduced levels, reflecting neuronal degradation, enhanced muscle activity, function. High SMA may indicate poorer prognosis for improvement.

Язык: Английский

Процитировано

1

Evolution of Functional and Paraclinical Markers as Predictive Factors in Pediatric Late-Onset SMA Under Nusinersen Treatment: The Role of CSF pNF-H DOI Creative Commons

Mihaela Badina,

Gabriel Cristian Bejan, Corina Sporea

и другие.

Balneo and PRM Research Journal, Год журнала: 2024, Номер 15(Vol.15, no. 4), С. 755 - 755

Опубликована: Дек. 22, 2024

Spinal Muscular Atrophy (SMA) is a rare neurodegenerative disease caused by insufficient synthesis of SMN protein, characterized progressive muscle weakness, atrophy, and complications affecting the respiratory digestive systems. Disease severity tends to be greater when symptoms manifest at an earlier age. Since 2016, FDA-approved drug nusinersen has provided disease-modifying treatment option. Identifying predictive factors for patient outcomes over time remains essential. This retrospective study analyzed clinical biological parameters in 42 patients (ages 13–215 months) with SMA types 2 3 first three years treatment. We assessed pNF-H levels CSF serum—neuronal proteins associated neurodegeneration—as well as serum creatinine levels, marker activity, motor skill scores evaluate pNF-H’s potential predictor development. Elevated were lower SMN2 gene copy number more recent onset. Following treatment, stabilized low values, likely due basal metabolic activity. In 3, higher baseline correlated improved performance time. Additionally, smaller changes during loading phase or various periods maintenance better development two

Язык: Английский

Процитировано

1