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Medicina (Kaunas, Lithuania) Mar 2021The role of bruxism in children and adolescents with Down syndrome, the most often diagnosed congenital syndrome, is still unclear. Therefore, this study aims to conduct... (Review)
Review
The role of bruxism in children and adolescents with Down syndrome, the most often diagnosed congenital syndrome, is still unclear. Therefore, this study aims to conduct a narrative review of the literature about bruxism in children and adolescents with Down syndrome to identify the prevalence, risk factors, and possible treatments of this disorder. Although an accurate estimate of its prevalence could not be inferred, it appears that bruxism is more prevalent in Down syndrome individuals rather than in the general pediatric population. No gender difference was observed, but a reduction in its prevalence was described with increasing age (around 12 years). The variability in the diagnostic techniques contributed to the heterogeneity of the literature data. Clinicopathological features of Down syndrome, such as muscle spasticity, oral breathing, and a predisposition to obstructive sleep apnea, may suggest a higher prevalence of bruxism in this patient group. Finally, given the paucity of studies on the management of bruxism in this population, it was not possible to outline a standard protocol for the non-invasive treatment of cases in which an observational approach is not sufficient.
Topics: Adolescent; Child; Down Syndrome; Humans; Prevalence; Risk Factors; Sleep Apnea, Obstructive; Sleep Bruxism
PubMed: 33804484
DOI: 10.3390/medicina57030224 -
Molecular Medicine (Cambridge, Mass.) Mar 2018Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is... (Review)
Review
Trisomy of chromosome 21 (TS21) is the most common autosomal aneuploidy compatible with postnatal survival with a prevalence of 1 in 700 newborns. Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including heart defects, susceptibility to Alzheimer's disease (AD), type 2 diabetes, obesity and immune disorders. Overexpression of genes on chromosome-21 (Hsa21) is responsible for the pathogenesis of Down syndrome (DS) phenotypic features either in a direct or in an indirect manner since many Hsa21 genes can affect the expression of other genes mapping to different chromosomes. Many of these genes are involved in mitochondrial function and energy conversion, and play a central role in the mitochondrial dysfunction and chronic oxidative stress, consistently observed in DS subjects.Recent studies highlight the deep interconnections between mitochondrial dysfunction and DS phenotype. In this short review we first provide a basic overview of mitochondrial phenotype in DS cells and tissues. We then discuss how specific Hsa21 genes may be involved in determining the disruption of mitochondrial DS phenotype and biogenesis. Finally we briefly focus on drugs that affect mitochondrial function and mitochondrial network suggesting possible therapeutic approaches to improve and/or prevent some aspects of the DS phenotype.
Topics: Animals; Down Syndrome; Humans; Mitochondria
PubMed: 30134785
DOI: 10.1186/s10020-018-0004-y -
Congenital Anomalies May 2016Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of... (Review)
Review
Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of intellectual disability and birth defects. Although most prenatally diagnosed DS fetuses are aborted in Taiwan, there are still some infants with DS who are diagnosed after birth. In addition to intellectual disability, people with DS face systemic problems that include short stature, dysmorphism, congenital heart disease, congenital anomalies of gastrointestinal and genitourinary tracts, abnormal endocrine function, leukemia and leukemoid reactions. To provide better care for people with DS in Taiwan, we began the DS multi-disciplinary clinic that has opened once per month since November 2013. The multi-disciplinary clinic consists of several subspecialists who provide care for DS people. To date, approximately 200 patients have used the clinic. The average number of patients who use the clinic per month is 27±6 with a mean patient age of 16±12 years old (range 0.3-53 years). The average number of patients per specialist on each clinic day is 5.2±4.9 (range 0.5-20.9 patients). We focus on early detection and prevention of medical and developmental issues associated with DS. This coordinated approach allows DS patients and family to have more comprehensive care.
Topics: Delivery of Health Care, Integrated; Down Syndrome; Humans; Prenatal Diagnosis; Prevalence; Quality Improvement; Taiwan
PubMed: 26866291
DOI: 10.1111/cga.12159 -
AORN Journal Jul 2022Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st... (Review)
Review
Down syndrome (DS) is the most common chromosomal abnormality in humans that is compatible with life. This syndrome occurs when there is an extra copy of the 21st chromosome. Down syndrome is associated with numerous comorbidities that can pose challenges for the perioperative nurse caring for a patient with DS undergoing surgery. These challenges can affect the patient assessment, communication with the patient, and patient safety (eg, preventing complications). As the life expectancy of people with DS has increased, so too have the chances that perioperative nurses will care for a patient with this disorder. This article reviews the pathophysiology of DS, discusses common comorbidities that may directly affect perioperative care, and reviews an exemplar case study that demonstrates how personnel with knowledge of DS can positively influence surgical team decision making for these patients in the perioperative setting.
Topics: Down Syndrome; Humans
PubMed: 35758744
DOI: 10.1002/aorn.13712 -
Developmental Period Medicine 2017Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. DS patients often present with some congenital... (Review)
Review
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. DS patients often present with some congenital defects and chronic diseases, including early onset dementia, which affects 70% of DS patients over 55 years of age and has a clinical presentation similar to Alzheimer disease (AD). The symptoms of DS originate from excessive genetic material within the "critical region" of the 21st chromosome. The "critical region" encompasses genes potentially associated with increase risk of dementia, e.g. the APP gene (amyloid beta precursor protein) which leads to excessive amyloid beta production. Post-mortem studies of DS patients' brains revealed diffuse deposition of the insoluble form of amyloid beta (Aβ), which is a characteristic feature of AD. Moreover, those changes were commonly observed in subjects > 31 years old. The pathomechanisms of AD have not been fully elucidated and scientists are still searching for new risk factors that may contribute to the development of this common illness. Recent research proved that lipid disturbance, especially disorders in the metabolism of HDL (high density lipoprotein) may play a crucial role in this pathogenic process. There are many studies examining lipid and lipoprotein concentration in the DS population, but up to now there are insufficient studies comparing these parameters with memory impairment, which may be a useful model for better understanding of the dementia pathomechanism.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Dementia; Down Syndrome; Humans; Lipid Metabolism; Middle Aged; Young Adult
PubMed: 28551695
DOI: 10.34763/devperiodmed.20172101.6973 -
Pediatrics International : Official... Mar 2019
Topics: Down Syndrome; GATA1 Transcription Factor; Humans; Infant; Leukemoid Reaction; Mutation
PubMed: 30916856
DOI: 10.1111/ped.13794 -
Hellenic Journal of Nuclear Medicine 2019Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that emerge within specific stages in the... (Review)
Review
Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that emerge within specific stages in the developmental continuum. A plethora of studies have confirmed DS's relationship to premature aging and subsequent cognitive decline. Due to having three copies of the amyloid precursor protein (APP) gene which results in amyloid-beta plaque deposition, the cognitive decline often resembles the decline observed in Alzheimer's disease. More specifically, as individuals with DS mature in age (>40) they experience a dramatic increase in difficulties in several cognitive domains, such as language, visuo-spatial abilities, executive functions, working memory, etc. Especially, frontal functions are reported to show an inverse correlation with age. In contrast to the pronounced and well-described neuropsychological deficits, psychiatric symptoms presented by this patient category are not uniform. Mental health disturbances commonly include general anxiety, obsessive-compulsive or oppositional/aggressive behaviors, depression and sleep disorders, as well as self-injury and behavior belonging to autistic spectrum disorders. Therefore, the purpose of the present review is twofold. Our first goal is to depict the cognitive and behavioural phenotype of adults with DS and our second goal is to review the current treatment options available for the behavioral and psychological symptoms, with an emphasis put on the quality of evidence available through meta-analyses and appraising critically the anecdotal treatment often applied. We also present a review on the psychotropic medication, especially acetylcholinesterase inhibitors, that can potentially slow the progression of cognitive decline of those patients. Finally, novel therapeutic strategies, psychological interventions and future diagnostic and therapeutic challenges are discussed.
Topics: Aging; Cognition; Down Syndrome; Humans; Phenotype
PubMed: 30877730
DOI: No ID Found -
American Journal of Medical Genetics.... Jan 2021Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to... (Review)
Review
Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to evaluate gaps and address key questions. A series of key questions were formulated a priori to inform the search strategy and review process; addressed prevalence, severity, etiology, risk factors, preventive methods, screening, and financial costs, potential benefits or harms of screening. Using the National Library of Medicine database, PubMed, detailed literature searches on pneumonia and respiratory infections in Down syndrome were performed. Previously identified review articles were also assessed. The quality of available evidence was then evaluated and knowledge gaps were identified. Forty-two relevant original articles were identified which addressed at least one key question. Study details including research design, internal validity, external validity, and relevant results are presented. Pneumonia and respiratory infections are more prevalent and more severe in individuals with Down syndrome compared to healthy controls through literature review, yet there are gaps in the literature regarding the etiology of pneumonia, the infectious organism, risk factors for infection, and to guide options for prevention and screening. There is urgent need for additional research studies in Down syndrome, especially in the time of the current COVID-19 pandemic.
Topics: Adult; COVID-19; Down Syndrome; Humans; Pandemics; Pneumonia; Respiratory Tract Infections; Risk Factors; SARS-CoV-2; Severity of Illness Index
PubMed: 33073471
DOI: 10.1002/ajmg.a.61924 -
British Medical Bulletin Dec 2016Down syndrome (DS), caused by human trisomy 21 (Ts21), can be considered as a prototypical model for understanding the effects of chromosomal aneuploidies in other... (Review)
Review
INTRODUCTION
Down syndrome (DS), caused by human trisomy 21 (Ts21), can be considered as a prototypical model for understanding the effects of chromosomal aneuploidies in other diseases. Human chromosome 21 (Hsa21) is syntenically conserved with three regions in the mouse genome.
SOURCES OF DATA
A review of recent advances in genetic modeling and analysis of DS. Using Cre/loxP-mediated chromosome engineering, a substantial number of new mouse models of DS have recently been generated, which facilitates better understanding of disease mechanisms in DS.
AREAS OF AGREEMENT
Based on evolutionary conservation, Ts21 can be modeled by engineered triplication of Hsa21 syntenic regions in mice. The validity of the models is supported by the exhibition of DS-related phenotypes.
AREAS OF CONTROVERSY
Although substantial progress has been made, it remains a challenge to unravel the relative importance of specific candidate genes and molecular mechanisms underlying the various clinical phenotypes.
GROWING POINTS
Further understanding of mechanisms based on data from mouse models, in parallel with human studies, may lead to novel therapies for clinical manifestations of Ts21 and insights to the roles of aneuploidies in other developmental disorders and cancers.
Topics: Animals; Chromosome Mapping; Developmental Disabilities; Disease Models, Animal; Down Syndrome; Genetic Engineering; Mice
PubMed: 27789459
DOI: 10.1093/bmb/ldw040 -
European Journal of Human Genetics :... May 2023Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the... (Review)
Review
Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.
Topics: Pregnancy; Female; Humans; United States; Down Syndrome; New Zealand; Prenatal Diagnosis; Europe; Australia
PubMed: 36922634
DOI: 10.1038/s41431-023-01330-y