Showing posts with label Down Syndrome. Show all posts
Showing posts with label Down Syndrome. Show all posts

Friday, 28 March 2025

Use of a Neurosensorimotor Reflex Integration Program to Improve the Sensory-Motor Sphere Functions of Children with Down Syndrome | Chapter 2 | Medical Science: Trends and Innovations Vol. 11

Down syndrome, first described by John Langdon Down in 1866, is a genetic disorder characterized by the presence of an additional chromosome 21 due to nondisjunction during gametogenesis and is reportedly the most common chromosomal abnormality in humans. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. While improvements in medical care have led to increased life expectancy for those with Down Syndrome, therapies for cognitive disabilities often emphasize pharmacologic strategies. Consequently, there is a need for alternative or complementary therapies for addressing the neurodevelopmental deficiencies of children with Down syndrome. Therefore, a novel and non-invasive method for evaluating and improving neurodevelopmental delays in children with Down syndrome was evaluated. Changes in the reflex patterns of children (6 months to 18 years old) (n=54) with Down syndrome were used as objective measures for comparing before and after participation in a Neurosensorimotor Reflex Integration exercise program. Initial reflex scores of children in the Study Group ranged from severe dysfunction to low levels of development. After the program, the majority number of reflex patterns showed substantial improvement after children’s completion of the exercise program, although not to the level of development comparable to that of children with typical development. This success indicates that the neurodevelopment and overall functioning of Down syndrome children are not static and can be improved with this novel Masgutova Neurosensorimotor Reflex Integration (MNRI®) exercise program. This research also shows the fact that the changes in reflex patterns happen in children with mild, moderate and severe disabilities on a significant level. In future, research will explore the long-term effects of MNRI intervention on neurophysiological and biomechanical mechanisms in children with Down syndrome, along with a focus on enhancing motor functions, cognitive processes, and emotional regulation.

 

Author (s) Details

 

Svetlana Masgutova
International Dr. Svetlana Masgutova Institute, Poland and Svetlana Masgutova Educational Institute®, USA.

 

Ludwika Sadowska
Department of Developmental Rehabilitation and Physiotherapy, Faculty of Health Sciences of Medical Academy by PiastowSlaskich in Wroclaw, Poland.

 

Joanna Kowalewska
International Dr. Svetlana Masgutova Institute, Poland.

 

Denis Masgutov
International Dr. Svetlana Masgutova Institute, Poland.

 

Nelli Akhmatova
Mechnikov Scientific Research Institute for Vaccines and Serums, Moscow, Russia.

Henryk Filipowski
Department of Developmental Rehabilitation and Physiotherapy, Faculty of Health Sciences of Medical Academy by PiastowSlaskich in Wroclaw, Poland.

 

Please see the book here:- https://doi.org/10.9734/bpi/msti/v11/4678

Thursday, 26 October 2023

Challenges in the Biomedical Treatment of Down Syndrome | Chapter 3 | Advanced Concepts in Medicine and Medical Research Vol. 1

 The branch examines the being of treating persons accompanying Down syndrome (DS) physiologically alternatively only via laboratory analyses. Human chromosomal or gene situation is loaded accompanying logistical and moral challenges. In every container in the human body skilled is a nucleus, place genetic material is stored in genes. Genes bear the codes responsible for all of our hereditary traits and are grouped near rod-like buildings called chromosomes. Typically, the core of each cell contains 23 pairs of chromosomes, half of that are inherited each parent. Down syndrome happens when an individual has a full or incomplete extra copy of chromosome 21. To prevent DS, genome rewriting would have to be performed inappropriate embryos. In vitro findings point toward the feasibility of silencing extra deoxyribonucleic acid 21 (C21) in later embryonic or foetal life, or even postnatally for few aspects of neurogenesis. These potential are beyond what is allowed contemporary. Another approach is through regulating the overexpression of injurious genes on C21. Research with rodent models of DS is yielding promising results. Human requests have barely started and are questioned on ethical sediments.

Author(s) Details:

Jean A. Rondal,
University of Liège, Belgium.

Please see the link here: https://stm.bookpi.org/ACMMR-V1/article/view/12290

Friday, 3 December 2021

A Brief Overview on Autosomal Trisomies | Chapter 5 | Recent Developments in Medicine and Medical Research Vol. 15

 The presence of an extra chromosome to the normal diploid number is referred to as trisomy. It is the most frequent chromosomal number anomaly. Meiotic non-disjunction of chromosomes is the most common source of this numerical error, which results in a gamete with 24 instead of 23 chromosomes and a zygote with 47 chromosomes. Trisomy 21 or Down's syndrome, Trisomy 18 or Edward Syndrome, and Trisomy 13 or Patau Syndrome are the three primary syndromes associated with autosomy trisomy. Trisomy 8, trisomy 9, and trisomy 2 are all rare trisomies. Trisomy 21 is the most prevalent chromosomal anomaly among live births (1 in 730 live births) and the most common kind of intellectual disability caused by chromosomal aberrations that can be seen under a microscope. Trisomy 21 or the presence of the distal part of the long arm of chromosome 21 are the genetic causes of this syndrome. Free trisomy 21, Robertsonian translocations, mosaicism, duplication of the DS crucial area, and other structural rearrangements involving chromosome 21 are all part of the cytogenetic profile of down syndrome. Edward syndrome is the second most frequent autosomal trisomy in live births, with prevalence estimates ranging from 1/3600 to 1/10,000, with 1 in 6,000 being the best overall estimate. The phenotype of trisomy 18 (Edwards syndrome) is caused by full, mosaic, or partial trisomy 18q. The most prevalent form (about 94 percent of cases) is complete or full trisomy 18, in which each cell contains three complete copies of chromosome 18. The third most prevalent autosomal trisomy in live births is Trisomy 13 (Patau Syndrome). Patau syndrome is one of three forms of trisomy disorders, with a frequency of one in every 12000 live births. The most prevalent kind is full trisomy 13. This type has three full copies of chromosome 13 on its chromosomes. People with partial trisomy 13 have two full copies of chromosome 13 plus an additional section of chromosome 13. Mosaic trisomy 13 is a condition in which some of the body's cells contain three copies of chromosome 13 while others have only two.

We want to provide you a quick rundown of the above-mentioned autosomal trisomy disorders, including their incidence, chromosomal abnormalities, clinical aspects, and treatment options.

Author(S) Details

Priyanka Pandey
Department of Anatomy, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India.

Rakesh Kumar Verma
Department of Anatomy, King George’s Medical University, Lucknow, India.

View Book:- https://stm.bookpi.org/RDMMR-V15/article/view/5004