Down Syndrome
What is it?
Down Syndrome is a genetic disorder, which is caused by a defect in cell division which results in an extra copy of chromosome 21- in most of the cases. There are also two other forms of the syndrome- Mosaic down syndrome which only in some of the person’s cells is an additional copy of the chromosome. This is caused by abnormal cell division after fertilization. Translocation Down syndrome is when only a part of chromosome 21 is translocated and attached onto another chromosome. This additional chromosome causes developmental, mental and physical changes and can be linked with heart, gastrointestinal and immunological commorbidites, to name a few. People with Down Syndrome have typical external characteristics. Life expectancy for those with down syndrome is shorter than usual, but in recent years some even get to live until the age of 60. Risk factors for Down syndrome are advanced maternal age- older than 35, carriers of the translocation for Down syndrome and having siblings with Down syndrome.
Additional names
This group contains additional names:
- Down's Syndrome
- Trisomy 21
Signs & symptoms
Down syndrome symptoms may vary in their presentation and their severity. Symptoms may include intellectual disabilities such as mild to moderate cognitive impairment, language delay, problems in memory, impulse behavior, poor judgement, short attention span, slow learning capabilities. Physical symptoms may include heart defects, gastrointestinal defects such as a blockage, gastroesophageal reflux, celiac disease, sleep apnea, autoimmune conditions, obesity, spinal problems, leukemia and dementia. Usually people with down syndrome, will also have typical appearance- flattened face, small head, short neck, protruding tongue, upward slanting eye lids, poor muscle tone, unusually shaped or small ears, short hands with a single crease in the palm, excessive flexibility, wite spots on the iris and short height.
Diagnosis
Down syndrome can be diagnosed in screening tests during pregnancy. These tests include blood tests to measure levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). In the second trimester four substances are being tested-alpha fetoprotein, estriol, HCG and inhibin A. Higher than normal levels may indicate the baby has Down syndrome. In a nuchal translucency test, during ultrasound examination, an area in the back of the baby’s neck is measured, and if it is wider than average- it could stand for Down syndrome. Diagnostic tests during pregnancy that can identify Down syndrome are chorionic villus sampling, which can be done between weeks 10-13 of pregnancy and amniocentesis after week 15 of pregnancy. If a baby is born with Down syndrome, it will usually be suspected because of the baby’s physical characteristics and then a genetic test should be done.
Treatment
Although there is no cure for Down syndrome, treatment is based on the child’s special needs and complications. It is important to look for complications and comorbidities and treat them on time. It is known that the earlier the child gets treated, the better quality of life he will have. They will probably need special help in school, physical and occupational therapy.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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