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Current Hematologic Malignancy Reports Oct 2016Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is... (Review)
Review
Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially 'silent'. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here.
Topics: Down Syndrome; GATA1 Transcription Factor; Humans; Leukemia, Myeloid, Acute; Leukemoid Reaction; Risk; Stem Cell Transplantation
PubMed: 27510823
DOI: 10.1007/s11899-016-0338-x -
BMC Pediatrics May 2018The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study...
BACKGROUND
The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome.
METHODS
This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population.
RESULTS
A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS).
CONCLUSION
Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.
Topics: Child; Child Language; Communication Aids for Disabled; Down Syndrome; Humans; Motor Skills; Social Skills
PubMed: 29751828
DOI: 10.1186/s12887-018-1144-5 -
Revista Medica Del Instituto Mexicano... Sep 2023Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome... (Review)
Review
Down syndrome (DS) is the most common autosomal aneuploidy and the leading cause of intellectual disability of genetic origin worldwide. It is identified as a syndrome in which the variability of its clinical manifestations and the severity of its phenotype have a multifactorial origin. Worldwide prevalence ranges between 1 per 700 live births and several factors that may be involved in the origin of DS have been proposed. Our objective was to describe updates regarding risk factors in the cytogenetic origin or cause of DS. We conducted a narrative review study in which a literature search was carried out from January to June 2022 in databases such as PubMed, EBSCO, Medigraphic, ClinicalKey, and meta-search engines such as Elsevier and Evidence Alerts. Only articles published in the last 10 years in English and Spanish were included. The search terms used were: Down syndrome, risk factors, prevention. Although DS is a very common chromosomal pathology worldwide, there is no single risk factor at the origin of meiotic or mitotic nondisjunction of chromosome 21, but rather each of the associated risk factors contributes to a greater or lesser degree to a cytogenetic predisposition in the etiology of trisomy 21. During the review it was identified that the main established risk factor associated with DS is still advanced maternal age (≥ 35 years).
Topics: Adult; Humans; Down Syndrome; Maternal Age; Nondisjunction, Genetic; Risk Factors; Female
PubMed: 37769135
DOI: 10.5281/zenodo.8316459 -
Journal of Clinical Immunology Aug 2020
Topics: Adaptive Immunity; Biomarkers; Comorbidity; Down Syndrome; History, 20th Century; Humans; Research
PubMed: 32712750
DOI: 10.1007/s10875-020-00837-z -
African Health Sciences Mar 2022regaining balance control is the key to decrease risk of falls in children with Down syndrome. (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
regaining balance control is the key to decrease risk of falls in children with Down syndrome.
OBJECTIVES
To compare between the effect of mechanical vestibular stimulation and balance exercises on balance in children with Down syndrome.
METHODS
Thirty children participated in the study. They were divided randomly and equally into; group A and group B, both groups received the designed program with regular balance exercises for group A and mechanical vestibular stimulation for group B, treatment was conducted for one hour 3 times per week for 3 successive months. Balance as stability indexes (regarding anteroposterior, mediolateral and over all stability indexes) was evaluated before and after treatment by Biodex balance system.
RESULTS
T-test was conducted to compare the mean values of stability indexes between groups. Non-significant difference between groups was recorded before treatment (p value > 0.05), while improvement was recorded when comparing post and pretreatment results for both groups (p > 0.0001). More significant improvement was recorded for group B when comparing the post treatment results with group A (p > 0.05).
CONCLUSION
Mechanical vestibular stimulation is better added to the rehabilitation program to improve balance in children with Down syndrome.
Topics: Child; Down Syndrome; Exercise Therapy; Humans; Postural Balance
PubMed: 36032439
DOI: 10.4314/ahs.v22i1.46 -
Medical Science Monitor : International... Jul 2015Children with Down syndrome (DS) present with delays in motor development. The reduced size of the cerebrum, brain maturation disorders, and pathophysiological processes...
BACKGROUND
Children with Down syndrome (DS) present with delays in motor development. The reduced size of the cerebrum, brain maturation disorders, and pathophysiological processes lead to motor development delay. The aim of this study was to examine the gross motor function and estimate what motor abilities are significantly delayed in children with Down syndrome even if they attend physical therapy sessions. Another purpose of the study was to assess the functional balance.
MATERIAL AND METHODS
The study group consisted of 79 children with DS (42 boys, 37 girls), average age 6 years and 3 months ± 4 years and 6 months. Participants were divided into 3 groups according to (i) age: <3 years old, 3-6 years old, and >6 years old; and (ii) motor impairment scale: mild (SNR 1), moderate (SNR 2), and severe (SNR 3). Children were assessed using the Gross Motor Function Measure-88 (GMFM-88) and Pediatric Balance Scale (PBS).
RESULTS
None of the assessed children developed all the functions included in GMFM-88. The standing position was achieved at the specified age by 10% of children in the first age group (<3 years old) and 95% of children aged 3-6 years. Similarly, the walking ability was performed by 10% of children under 3 years old and by 95% of children aged 3-6 years. The median score of PBS was 50 points (min. 34 p. - max. 56 p.). There was a statistically significant correlation between PBS scores and GMFM-88 scores, r=0.7; p<0.0001, and between balance scores and GMFM - 88 E (walking, running, jumping) (r=0.64; p<0.0001).
CONCLUSIONS
Motor development, especially standing position and walking ability, is delayed in children with Down syndrome. Balance and motor functions are correlated with each other, so both aspects of development should be consider together in physical therapy of children with Down syndrome.
Topics: Child; Developmental Disabilities; Down Syndrome; Female; Humans; Male
PubMed: 26132100
DOI: 10.12659/MSM.893377 -
Nefrologia 2022
Topics: Humans; Down Syndrome; Bone and Bones; Kidney
PubMed: 36396571
DOI: 10.1016/j.nefroe.2021.09.006 -
Cold Spring Harbor Perspectives in... Feb 2020Acute megakaryoblastic leukemia (AMKL) is a rare malignancy affecting megakaryocytes, platelet-producing cells that reside in the bone marrow. Children with Down... (Review)
Review
Acute megakaryoblastic leukemia (AMKL) is a rare malignancy affecting megakaryocytes, platelet-producing cells that reside in the bone marrow. Children with Down syndrome (DS) are particularly prone to developing the disease and have a different age of onset, distinct genetic mutations, and better prognosis as compared with individuals without DS who develop the disease. Here, we discuss the contributions of chromosome 21 genes and other genetic mutations to AMKL, the clinical features of the disease, and the differing features of DS- and non-DS-AMKL. Further studies elucidating the role of chromosome 21 genes in this disease may aid our understanding of how they function in other types of leukemia, in which they are frequently mutated or differentially expressed. Although researchers have made many insights into understanding AMKL, much more remains to be learned about its underlying molecular mechanisms.
Topics: Animals; Child; Down Syndrome; GATA1 Transcription Factor; Humans; Leukemia, Megakaryoblastic, Acute; Mutation
PubMed: 31548219
DOI: 10.1101/cshperspect.a034884 -
Free Radical Biology & Medicine Jan 2018This review focuses on the role of Aβ in AD pathogenesis in Down syndrome and current approaches for imaging Aβ in vivo. We will describe how Aβ deposits with age,... (Review)
Review
This review focuses on the role of Aβ in AD pathogenesis in Down syndrome and current approaches for imaging Aβ in vivo. We will describe how Aβ deposits with age, the posttranslational modifications that can occur, and detection in biofluids. Three unique case studies describing partial trisomy 21 cases without APP triplication, and the occurrences of low level mosaic trisomy 21 in an early onset AD patient are presented. Brain imaging for Aβ includes those by positron emission tomography and ligands (Pittsburgh Compound B, Florbetapir, and FDDNP) that bind Aβ have been published and are summarized here. In combination, we have learned a great deal about Aβ in DS in terms of characterizing age of onset of this pathology and it is exciting to note that there is a clinical trial in DS targeting Aβ that may lead to clinical benefits.
Topics: Amyloid beta-Peptides; Animals; Down Syndrome; Humans; Neuroimaging
PubMed: 28935420
DOI: 10.1016/j.freeradbiomed.2017.09.013 -
Australian Family Physician Jul 2014Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect Down syndrome in a fetus... (Review)
Review
BACKGROUND
Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect Down syndrome in a fetus with a very high level of accuracy (at least 99.5% with a false-positive rate of 0.2%).
OBJECTIVE
To describe the new tests that have become available and their place in antenatal screening to help GPs and their patients make informed decisions about their use.
DISCUSSION
Results are available from 12 weeks gestation, giving a high level of reassurance for Down syndrome early in pregnancy. There are concerns, however, that the test is being offered without proper counselling and that women may not have a 12-week ultrasound to exclude significant structural abnormalities, therefore decreasing the early detection of severe abnormalities. In addition, the test is expensive and therefore prohibitive for many women and their families.
Topics: Aneuploidy; Down Syndrome; Female; Genetic Counseling; Humans; Pregnancy; Prenatal Diagnosis; Reproducibility of Results
PubMed: 25006601
DOI: No ID Found