what happens to the body when you have down syndrome
Definition
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Culling Names
Trisomy 21
Causes
In virtually cases, Down syndrome occurs when at that place is an extra copy of chromosome 21. This form of Down's syndrome is called trisomy 21. The actress chromosome causes problems with the way the body and brain develop.
Down syndrome is one of the near common causes of nativity defects.
Symptoms
Down's syndrome symptoms vary from person to person and tin range from balmy to severe. No affair how astringent the condition is, people with Down syndrome take a widely-recognized appearance.
The head may be smaller than normal and abnormally shaped. For example, the caput may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.
Common physical signs include:
- Decreased muscle tone at birth
- Backlog skin at the nape of the neck
- Flattened nose
- Separated joints between the bones of the skull (sutures)
- Single crease in the palm of the hand
- Small ears
- Small mouth
- Upward slanting eyes
- Wide, short hands with short fingers
- White spots on the colored part of the centre (Brushfield spots)
Physical development is oftentimes slower than normal. Well-nigh children with Down syndrome never reach average developed pinnacle.
Children may too have delayed mental and social development. Mutual issues may include:
- Impulsive behavior
- Poor judgment
- Brusk attending span
- Slow learning
As children with Down syndrome grow and become aware of their limitations, they may as well feel frustration and anger.
Many different medical conditions are seen in people with Down's syndrome, including:
- Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
- Dementia may be seen
- Eye problems, such as cataracts (well-nigh children with Down syndrome need spectacles)
- Early and massive airsickness, which may exist a sign of a gastrointestinal blockage, such every bit esophageal atresia and duodenal atresia
- Hearing problems, probably acquired by repeated ear infections
- Hip problems and run a risk of dislocation
- Long-term (chronic) constipation problems
- Slumber apnea (because the oral cavity, throat, and airway are narrowed in children with Down syndrome)
- Teeth that appear later than normal and in a location that may cause problems with chewing
- Underactive thyroid (hypothyroidism)
Exams and Tests
A doctor can frequently make a diagnosis of Down's syndrome at birth based on how the babe looks. The doctor may hear a middle murmur when listening to the baby's chest with a stethoscope.
A claret test can be done to check for the extra chromosome and confirm the diagnosis.
Other tests that may exist washed include:
- Echocardiogram and electrocardiogram (ECG) to bank check for heart defects (ordinarily done shortly afterward birth)
- X-rays of the chest and alimentary canal
People with Downward syndrome need to be closely screened for certain medical conditions. They should take:
- An middle exam every year during infancy
- Hearing tests every 6 to 12 months, depending on historic period
- Dental exams every 6 months
- X-rays of the upper or cervical spine between ages 3 and v years
- Pap smears and pelvic exams beginning during puberty or by historic period 21
- Thyroid testing every 12 months
Handling
There is no specific handling for Downwards syndrome. If treatment is needed, it is usually for associated health bug. For instance, a child born with a gastrointestinal blockage may need major surgery correct after nascence. Sure heart defects may too crave surgery.
When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. But many infants with Down's syndrome can successfully breastfeed.
Obesity tin can get a problem for older children and adults. Getting plenty of action and avoiding high-calorie foods are of import. Before beginning sports activities, the kid's neck and hips should be examined.
Behavioral grooming tin assistance people with Downward syndrome and their families bargain with the frustration, anger, and compulsive behavior that frequently occur. Parents and caregivers should acquire to help a person with Down's syndrome deal with frustration. At the same time, information technology is important to encourage independence.
Teen girls and women with Down syndrome are ordinarily able to get meaning. There is an increased risk for sexual corruption and other types of abuse in both males and females. It is important for those with Down syndrome to:
- Be taught most pregnancy and taking the proper precautions
- Learn to advocate for themselves in difficult situations
- Be in a safety surround
If the person has any eye defects or other heart problems, antibiotics may need to exist prescribed to prevent a heart infection called endocarditis.
Special education and grooming are offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may assistance with feeding and performing tasks. Mental wellness intendance can help both parents and the child manage mood or beliefs problems. Special educators are also oft needed.
Back up Groups
More information and back up for people with Down syndrome and their families can be found at:
- National Down syndrome Society -- www.ndss.org
- National Down Syndrome Congress -- world wide web.ndsccenter.org
- NIH Genetic and Rare Diseases Data Eye -- rarediseases.info.nih.gov/diseases/10247/downwardly-syndrome
Outlook (Prognosis)
Although many children with Down syndrome take concrete and mental limitations, they can live independent and productive lives well into machismo.
Almost 1 half of children with Downwards syndrome are built-in with heart problems, including atrial septal defect, ventricular septal defect, and endocardial cushion defects. Severe centre problems may lead to early death.
People with Down syndrome have an increased risk for certain types of leukemia, which tin can also cause early decease.
The level of intellectual disability varies, but is commonly moderate. Adults with Down's syndrome have an increased risk for dementia.
When to Contact a Medical Professional
A wellness care provider should be consulted to determine if the child needs special didactics and training. It is important for the kid to take regular checkups with a medico.
Prevention
Experts recommend genetic counseling for people with a family unit history of Down's syndrome who wish to have a infant.
A adult female'south risk of having a child with Down syndrome increases as she gets older. The hazard is significantly college among women age 35 and older.
Couples who already take a baby with Down syndrome take an increased adventure of having some other infant with the condition.
Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can exist done on a fetus during the first few months of pregnancy to check for Down syndrome.
References
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 98.
Centers for Disease Command and Prevention website. Birth defects: facts about downwards syndrome. www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Updated Apr half dozen, 2021. Accessed June xv, 2021.
Cooke DW, DiVall SA, Radovick S. Normal and aberrant growth in children. In: Melmed S, Auchus, RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.
Driscoll DA, Simpson JL. Genetic screening and diagnosis. In: Landon MB, Galan HL, Jauniaux ERM, et al, eds. Gabbe'south Obstetrics: Normal and Problem Pregnancies. 8th ed. Philadelphia, PA: Elsevier; 2021:chap 10.
Version Info
- Last reviewed on iv/xiv/2021
- Charles I. Schwartz, Physician, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David Zieve, Doctor, MHA, Medical Manager, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Source: https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/down-syndrome
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