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Down syndrome is a genetic disorder that causes sufferers to have a low level of intelligence, and distinct physical abnormalities. Some sufferers can experience mild abnormalities, but others can experience severe disorders that cause heart disease.
Down syndrome is a genetic disorder that often occurs. WHO data estimates that 3000 to 5000 babies are born with this condition every year. With proper handling, patients can live healthily and be able to carry out activities independently, although the disorder cannot be cured.
Symptoms of Down Syndrome
The common symptoms of Down syndrome are:
- Typical facial appearance, for example, has flat nose bones and small ears
- The head size is smaller and the back is flat
- The eye rises upward, often with a fold of skin that comes out of the upper eyelid and covers the inner corner of the eye
- White spots appear on the black part of the eye (called Brushifield spots)
- Short neck with the skin at the back of the neck looks rather loose
- Smallmouth and extended tongue
- Muscles are less fully formed
- There is a gap between the first and second toes
- Wide palms with short fingers and one fold on the palm
- Low weight and height compared to average
Physical development of children with this condition also tends to be slower than children who are not born with Down syndrome. For example, because the muscles are poorly formed, children with this condition may be slower to learn to lie down, sit, stand and walk.
Besides affecting physical appearance, this condition also results in cognitive disorders, including problems with thinking and learning. Cognitive disorders experienced by Down syndrome sufferers usually range from mild to moderate.
Here are some cognitive and behavioral problems that are often experienced by children with Down syndrome:
- Difficulty focusing, concentrating and solving problems
- Obsessive/compulsive behavior
- Stubborn
- Emotional
There may be signs and symptoms not mentioned above. If you have concerns about a particular symptom, consult your doctor.
Causes of Down Syndrome
Human cells usually contain 46 chromosomes, half of which come from mother and half from father. Well, Down syndrome itself occurs when a baby has an additional chromosome that is formed during the development of the mother's egg cell, sperm cells from the father, or during the embryonic period, the embryo of the baby.
This condition makes the baby have 47 chromosomes in each cell, not 46 pairs as normal. This excessive chromosome causes people with this syndrome to experience various physical and developmental problems.
Here are some genetic variations that can cause Down syndrome:
Trisomy 21
About 95 percent of Down syndrome cases are caused by trisomy 21, which is when a child has three copies of chromosome 21 instead of two copies in each cell. This condition is caused by abnormal cell division during the development of sperm cells from the father and egg cells from the mother.
Down mosaic syndrome
This syndrome is fairly rare. Someone who experiences this condition only has a few cells with an additional copy of chromosome 21. This condition can occur due to abnormal cell division after fertilization.
Down syndrome is translocated
Citing on the Mayo Clinic page, about 4 percent of children with this syndrome have two full copies and 1 copy of a portion of chromosome 21 that attaches together on another chromosome. In the medical world, this condition is called Down translocation syndrome.
This condition can be derived from one of the parents. However, only one-third of Down syndrome cases are inherited from one parent.
Risk Factors for Down syndrome
There are several factors that pose the risk of creating extra copies on chromosome 21, including:
- Mothers are old enough during pregnancy. Children born to women over 35 years are more prone to Down syndrome. The risk will increase if the father's age is above 40 years.
- There are other Down syndrome sufferers in the family. Having relatives with Down syndrome increases the risk of having children with this condition, and can even occur not only in 1 child.
Detection of Down Syndrome
Down syndrome can be detected during pregnancy through screening for genetic disorders, namely by blood tests and pregnancy ultrasound. Next will be a test of amniotic water and test the placenta sample, to determine whether there are gene abnormalities.
Ultrasound of pregnancy
Ultrasound pregnancy is done every time a pregnant woman controls the womb. Through an ultrasound examination, the obstetrician can assess fetal growth, by looking at the fetal spinal fluid level.
Blood test
Your doctor will measure the levels of PAPP-A protein (pregnancy-associated plasma protein-A) and the hormone HCG (human chorionic gonadotropin) in the early trimester of pregnancy. In the second trimester, a blood test is again performed to measure levels of alpha-protein (AFP), estriol, HCG, and hormone inhibin A. All these checks are the basis for the doctor, to determine whether a more risky follow-up examination is needed, which is water sampling membranes or placenta.
Amniotic water test
Amniocentesis tests are performed to determine whether the fetus has a genetic disorder. Amniocentesis is done in the second trimester when the pregnancy enters the age of 15 weeks.
Test the placenta sample
Genetic abnormalities can also be known by taking samples of the placenta or placenta tissue. This examination is called chorionic villus sampling (CVS). CVS is performed by an obstetrician during pregnancy entering the age of 10-13 weeks.
To detect the possibility of having a child who has Down syndrome, couples are advised to do genetic counseling before planning a pregnancy, especially if you have family members who suffer from this disorder.
Complications of Down Syndrome
Down syndrome can trigger a variety of complications, including:
- Heart abnormalities. About half of children with Down syndrome are known to be born with congenital heart disease, so they have to undergo surgery.
- Some Down syndrome sufferers experience digestive disorders, such as difficulty swallowing (dysphagia) and celiac disease.
- When reaching old age, Down syndrome sufferers tend to get dementia, especially Alzheimer's disease.
- Visual impairment. Half of Down syndrome sufferers experience visual disturbances, such as cataracts, nearsightedness, farsightedness, squint, thinning of the cornea, nystagmus, lazy eyes, and conjunctivitis.
- Oral health problems. People with Down syndrome can experience dry mouth, difficulty brushing teeth, cavities, and inflammation of the gums.
- Thyroid disease. A small proportion of Down syndrome sufferers experience thyroid disease, which can cause hypothyroidism (thyroid hormone deficiency) or hyperthyroidism (excess thyroid hormone).
- Hearing disorders. Some Down syndrome sufferers experience hearing problems, due to a buildup of fluid in the middle of the ear or glue ear.
- Sleep apnea. Bone and tissue deformities in Down syndrome patients can cause airway obstruction, and lead to sleep apnea.
- Psychological and mental disorders. About 1 in 5 Down syndrome sufferers experience mental disorders, such as obsessive-compulsive disorder, autism, depression, and ADHD (attention deficit hyperactivity disorder).
In addition to a number of complications above, Down syndrome sufferers are more prone to obesity, hormonal disorders, autoimmune diseases, and infectious diseases. Down syndrome sufferers are also more at risk of developing blood cancer (leukemia), although this is rare.
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Treatment of Down Syndrome
Treatment for Down syndrome sufferers is done so that patients can undergo daily activities independently. The faster therapy is given, the better the patient's ability to move will be active. Therapy given to Down syndrome sufferers includes:
- Physiotherapy, help strengthen muscles, teach how to move properly, and maintain good posture.
- Speech therapy, to help sufferers use language and communicate better.
- Occupational therapy, to teach patients how to undergo daily activities, such as eating, lifting or putting things, and dressing.
- Behavioral therapy, teach people how to respond positively to something, especially in Down syndrome patients who experience frustration, obsessive-compulsive disorder, or ADHD.
The role of parents is needed to maximize the results of the above therapy. Some things that parents can do to accompany children with Down syndrome are:
- Invite children to play with their peers.
- Teach children to name the object they like while playing.
- Teach children to be independent, for example in dressing, brushing their teeth, and using the toilet.
- Use toys to teach children how to take, hold, and move things.
In addition to the above, it would be better if the parents of Down syndrome sufferers join a community specifically for families with this condition. Through these groups, parents who have children with Down syndrome can share information.
Down syndrome is indeed not treatable. But with good support from the family, and routinely undergoing therapy and examinations to doctors, Down syndrome sufferers can live independently and avoid complications.
