Chromosomal and cellular therapeutic approaches for Down syndrome: A research update

Huang, Tan; Fakurazi, Sharida; Cheah, Pike-See; Ling, King-Hwa

doi:10.1016/j.bbrc.2024.150664

Biochemical and Biophysical Research Communications

2024

DOI: 10.1016/j.bbrc.2024.150664

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Chromosomal and cellular therapeutic approaches for Down syndrome: A research update

Tan Huang,

Sharida Fakurazi,

Pike-See Cheah

et al.

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Cited by 2 publications

References 199 publications

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Virtual Reality-Based Therapy Can Enhance Balance and Muscular Endurance in Children and Adolescents with Down Syndrome: A Systematic Review with a Meta-Analysis

Piñar-Lara,

Cortés-Pérez,

Díaz-Fernández

et al. 2024

Bioengineering

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Physical exercises are crucial for enhancing postural balance and muscle strength in children and adolescents with Down syndrome (DS). Virtual reality-based therapy (VRBT), which utilizes exergames, can favor performing physical activity. The aim of this review was to assess the effectiveness of VRBT in improving balance and muscular endurance in children and adolescents with DS. Since inception up to August 2024, we screened in PubMed Medline, SCOPUS, WOS, CINAHL, and PEDro studies that assessed the effectiveness of VRBT, compared to conventional therapy (CT) or usual care (UC), in improving balance and muscular endurance in DS. Methodological quality was assessed using the PEDro scale. Effect size in meta-analyses was calculated with the Cohen’s standardized mean difference (SMD) and its 95% confidence interval (95% CI). Nine studies providing data from 424 participants with good methodological quality (PEDro: 6.3 ± 1.2 points) were included. Our meta-analysis showed that VRBT is more effective than controls in increasing function (SMD = 1.22; 95% CI 0.64 to 1.81; p < 0.001), dynamic balance (SMD = −2.2; 95% CI −3.1 to −1.25; p < 0.001), and muscular endurance (SMD = 1.37; 95% CI 0.58 to 2.2; p < 0.001). This is the first meta-analysis to exclusively focus on children and adolescents with DS, demonstrating the effectiveness of VRBT in enhancing balance and muscular endurance.

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Virtual Reality-Based Therapy Can Enhance Balance and Muscular Endurance in Children and Adolescents with Down Syndrome: A Systematic Review with a Meta-Analysis

Piñar-Lara,

Cortés-Pérez,

Díaz-Fernández

et al. 2024

Bioengineering

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Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome

Manzano Vela,

Flores Mancheno

et al. 2025

Salud, Ciencia y Tecnología

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Introduction: Down Syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21, resulting in intellectual disability and an increased risk of congenital malformations. Advances in genetic and molecular diagnostics have improved the accuracy and speed of DS diagnosis, including next-generation sequencing (NGS) and whole exome sequencing (WES).Methods: A systematic narrative review was applied to analyze the most recent genetic and molecular tools applied to DS diagnosis as well as the clinical conceptualization of the disease. The review included sources from the last five years, extracted from databases such as PubMed, Scopus, and Web of Science. After critical analysis, 40 articles were selected from an initial total of 72 primary sources.Results: NGS and WES technologies have shown diagnostic sensitivity greater than 99% for DS, with false-positive rates below 0.5%. In prenatal diagnosis, non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA (cffDNA) in maternal plasma has achieved detection rates above 98%, reducing the need for invasive methods such as amniocentesis. Postnatally, molecular techniques such as real-time PCR (qPCR) and comparative genomic hybridization arrays (CGH-array) have reduced diagnostic times to less than 72 hours.Conclusions: Genetic and molecular tools, especially NGS, WES, and NIPD, have revolutionized the diagnosis of DS, offering greater precision and speed while minimizing risks. Future research should focus on validating these methods for widespread use, especially in low-risk populations, and exploring the potential of WES to detect comorbidities associated with DS.

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Chromosomal and cellular therapeutic approaches for Down syndrome: A research update

Cited by 2 publications

References 199 publications

Virtual Reality-Based Therapy Can Enhance Balance and Muscular Endurance in Children and Adolescents with Down Syndrome: A Systematic Review with a Meta-Analysis

Virtual Reality-Based Therapy Can Enhance Balance and Muscular Endurance in Children and Adolescents with Down Syndrome: A Systematic Review with a Meta-Analysis

Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome

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