Down syndrome
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Down Syndrome: Genetic Insights and Clinical Implications
Introduction to Down Syndrome (Trisomy 21)
Down syndrome (DS), also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. This condition results in a range of physical and neurocognitive alterations, making it the most common chromosomal abnormality compatible with human survival post-term1 7. The genetic complexity of DS, involving over 200 protein-coding genes, poses significant challenges but also offers opportunities for understanding various genetic mechanisms1.
Physical Characteristics and Birth Defects
Individuals with Down syndrome often exhibit distinct physical features, including a flattened facial profile, upslanting palpebral fissures, small ears, a short neck, and a protruding tongue. Additionally, many have small hands and feet with a single crease across the palms2. Approximately half of all children with DS are born with congenital heart defects, and some may also experience digestive abnormalities, such as intestinal blockages2.
Neurological and Cognitive Features
Down syndrome is the most common genetic cause of intellectual disability, with varying degrees of cognitive impairment. Research has highlighted disproportionate impairments in specific brain regions, such as the hippocampal formation, prefrontal cortex, and cerebellum6. Advances in functional neuroimaging and genome-wide analysis are providing deeper insights into the cognitive phenotypes and underlying biological substrates of DS9 10.
Associated Health Conditions
People with Down syndrome are at an increased risk for several health conditions, including congenital heart disease, Alzheimer's disease, leukemia, and various motor disorders4 6 7. Interestingly, they appear to have a lower incidence of certain cancers and possibly atherosclerosis7. The universal occurrence of Alzheimer’s disease histopathology and the high prevalence of dementia in DS are particularly notable, offering insights into the pathology and potential treatments for Alzheimer’s disease1 4.
Advances in Prenatal Screening and Diagnosis
Recent advancements in prenatal screening and diagnosis have significantly improved the early detection of DS, reducing the need for invasive procedures like amniocentesis3 5. These developments are crucial for early intervention and better management of the condition.
Therapeutic Interventions and Quality of Life
The growing understanding of the molecular pathophysiology of DS is paving the way for therapeutic interventions aimed at ameliorating intellectual disability and other associated conditions1. Improvements in medical care, early educational interventions, and the treatment of psychiatric disorders have significantly enhanced the quality of life for individuals with DS3 5.
Conclusion
Down syndrome, caused by trisomy 21, presents a complex interplay of genetic and phenotypic characteristics. While it poses significant challenges, ongoing research and advancements in medical care are improving the understanding and management of this condition. The future holds promise for therapeutic interventions that could further enhance the quality of life for individuals with Down syndrome.
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Down syndrome
Down syndrome (DS) is a genetic disorder caused by trisomy 21, leading to physical and neurocognitive alterations, and understanding its pathogenesis is leading to improved treatments.
Highly CitedDown Syndrome.
Down syndrome is a genetic condition that causes a characteristic facial appearance and various birth defects.
Rigorous JournalHighly CitedDown's syndrome
Down's syndrome research aims to improve prenatal screening, diagnosis, and medical management, with potential benefits for individuals' quality of life and reducing amniocentesis.
Rigorous JournalHighly CitedNeurologic complications of Down syndrome: a systematic review
Many underrecognized and misdiagnosed neurologic conditions co-occur in individuals with Down syndrome, highlighting the need for further research.
Systematic ReviewRigorous JournalDown syndrome.
Advances in prenatal diagnosis and molecular biology are leading to a greater understanding of other common disorders associated with Down syndrome, improving the quality of life for affected individuals.
Molecular genetic analysis of Down syndrome
Down syndrome is caused by trisomy of human chromosome 21, but the genetic mechanisms behind its phenotypes remain unclear, with mouse models providing valuable insights for experimental approaches and therapy.
Rigorous JournalHighly CitedDown syndrome and the complexity of genome dosage imbalance
Down syndrome research reveals molecular mechanisms causing various phenotypes, potentially leading to new therapeutic options.
Highly CitedDown syndrome: the brain in trisomic mode
Functional genome exploration and neuroimaging studies offer new insights into Down syndrome brain dysfunction, potentially leading to treatments for intellectual disability.
Highly CitedNew approaches to studying early brain development in Down syndrome
Advances in magnetic resonance imaging may enable Down syndrome to be targeted by antenatal treatments designed to 'normalize' brain development.
Rigorous Journal