Trisomy 21 (Down Syndrome)
Trisomy 21, known as Down syndrome, is a genetic disorder resulting from genetic errors on the 21st chromosome. Down syndrome causes a range of intellectual impairments and developmental delays as well as health conditions.
Down syndrome is the most common Trisomy. Although most trisomies are due to random errors, mothers over 35 years of age have an increased risk of having a child with Down syndrome. Down syndrome occurs in approximately 1 in 700 live births, or about 6,000 babies every year.
Some children will have three copies of chromosome 21 in all of their cells (Trisomy 21) while others have three copies in only some of their cells (mosaic Down syndrome) or extra parts of chromosome 21 attached to another chromosome (Translocation Down syndrome). The severity of the impact of Trisomy 21 on development will depend upon the number of cells affected.
Children with Down syndrome have distinctive facial features such as a flattened face, a short neck, almond-shaped eyes, and a small mouth with a tongue that appears to stick out. Most will have mild to moderate developmental and intellectual disabilities, although children with Down syndrome will vary considerably in their abilities.
Trisomy 21 is also associated with other health problems. Children with Down syndrome are at an increased risk for having heart defects, digestive problems such as gastroesophageal reflux or celiac disease, and hearing and vision problems. They may also have problems with their thyroid and have increased risk for leukemia or infections.
Children with Down syndrome often have low muscle tone at birth and may experience life-threatening medical conditions, such as those associated with heart defects. Unlike other Trisomy disorders, most children with Down syndrome will live into adulthood. Individuals with Down syndrome with fewer or well-managed health problems can expect to live to be 60 years of age or more.
There is no cure for Down syndrome; however, most individuals can live happy, productive lives. Medical conditions such as heart defects may require surgical correction or management with medication. Therapeutic services, such as speech, occupational, and physical therapy, should be provided as soon as possible to children with Down syndrome to assist their development. Early Intervention services received in infancy will ensure that families have the support needed to promote their child’s development and health and improve their physical and intellectual abilities.
|Information in Spanish||http://msdh.ms.gov/msdhsite/index.cfm/41,14812,285,pdf/Trisomy_21_Spanish.pdf|
|Information in Vietnamese||http://msdh.ms.gov/msdhsite/index.cfm/41,14811,285,pdf/Trisomy_21_Vietnamese.pdf|
|Genetics Home Reference: Down Syndrome||https://ghr.nlm.nih.gov/condition/down-syndrome|
|Healthcare for Families of Children with Down Syndrome – Academy of Pediatrics (AAP)||https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Children-with-Down-Syndrome-Health-Care-Information-for-Families.aspx|
|National Library of Medicine — MedlinePlus: Trisomy 21||https://medlineplus.gov/genetics/condition/down-syndrome/Genetics|
|The National Down Syndrome Congress (NDSC)||https://www.ndsccenter.org|
|Down Syndrome Diagnosis Network||https://www.dsdiagnosisnetwork.org/|
|The Arc of Mississippi||https://www.arcms.org/|
|Mississippi Society for Disabilities||https://www.msdisabilities.com/|
|The Mississippi Division of Medicaid||https://medicaid.ms.gov/medicaid-coverage/how-to-apply/|
|Down Syndrome Resource Foundation (DSRF)||https://www.dsrf.org/information/medical-and-health-information/|
|National Down Syndrome Society||https://www.nads.org/|
|Central Mississippi Down Syndrome Society||https://www.cmdss.org/|
|Gulf Coast Down Syndrome Society||https://gcdss.org/|
|MSDH's Children and Youth with Special Health Care Needs (CYSHCN) program||http://msdh.ms.gov/msdhsite/index.cfm/41,0,163,html|
|MSDH's First Steps Early Intervention program||http://msdh.ms.gov/msdhsite/index.cfm/41,0,74,html|
|MSDH's Healthy Moms, Healthy Babies program||http://msdh.ms.gov/msdhsite/index.cfm/41,0,106,html|
|American College of Medical Genetics — Trisomy 21: Positive Cell Free DNA Screen||https://www.acmg.net/PDFLibrary/Trisomy-21.pdf|
|Prenatal Diagnosis for Congenital Malformations and Genetic Disorders: Practice Essentials, Noninvasive Techniques, Invasive Techniques||https://emedicine.medscape.com/article/1200683-overview|
|Prenatal Imaging Findings in Down Syndrome||https://emedicine.medscape.com/article/402863-overview|
|Postnatal Down Syndrome Imaging||https://emedicine.medscape.com/article/408344-overview|
|Oral Health Fact Sheet for Medical Professionals: Children with Down Syndrome (Trisomy 21)||https://dental.washington.edu/wp-content/media/sp_need_pdfs/Down-Medical.pdf|
|Prenatal Genetic Screening Tests||https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests|
|Prenatal Genetic Testing Chart||https://www.acog.org/womens-health/infographics/prenatal-genetic-testing-chart|
|3 Questions to Ask Yourself Before Getting Prenatal Genetic Testing||https://www.acog.org/womens-health/experts-and-stories/the-latest/3-questions-to-ask-yourself-before-getting-prenatal-genetic-testing|
|American Academy of Pediatrics. Bull MJ and the Committee on Genetics. Health Supervision for Children With Down Syndrome. Pediatrics 2011;128;393; DOI: 10.1542/peds.2011-1605;||https://pediatrics.aappublications.org/content/pediatrics/128/2/393.full.pdf|
|Glinianaia SV, Morris JK, Best KE, Santoro M, Coi A, Armaroli A, et al. (2020) Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies. PLoS Med 17(9): e1003356.||https://journals.plos.org/plosmedicine/article?id=10.1371|
|Lantin-Hermoso MR, Berger S, Bhatt AB, Richerson JE, Morrow R, Freed MD, Beekman RH. The Care of Children with Congenital Heart Disease in Their Primary Medical Home. Pediatrics 2017;140(5);e20172607;||https://doi.org/10.1542/peds.2017-2607|
|Lee CF, Lee CH, Hsueh WY, Lin MT, Kang KT. Prevalence of obstructive sleep apnea in children with Down syndrome: a meta-analysis. J Clin Sleep Med. 2018;14(5):867–875;||https://jcsm.aasm.org/doi/pdf/10.5664/jcsm.7126|
|Lipkin, P.H., Okamoto, J., and the Council on Children with Disabilities and the Council on School Health. The Individuals With Disabilities Education Act (IDEA) for Children With Special Educational Needs. Pediatrics 2015;136;e1650. DOI: 10.1542/peds.2015-3409;||https://pediatrics.aappublications.org/content/pediatrics/136/6/e1650.full.pdf|
|Rodrigues M, Nunes J, Figueiredo S, Martins de Campos A, Geraldo AF. Neuroimaging assessment in Down syndrome: a pictorial review. Insights Imaging. 2019;10(1):52. Published 2019 May 20. doi:10.1186/s13244-019-0729-3;||https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527671/|
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