Down syndrome is a condition when a person is born with all or part of the extra copy of the twenty-one chromosome. This extra genetic material then alters normal human development, and causes various physical and mental traits associated with Down syndrome. There are 50's of characteristics associated with Down's syndrome, but they can vary from person to person. The risk of having a child with Down syndrome increases as the mother ages. Early diagnosis can help a child with Down syndrome gain support to become a healthy and happy adult with Down syndrome.
Step
Method 1 of 4: Diagnosing during the Prenatal Period
Step 1. Get a prenatal checkup (before delivery)
This test cannot show the presence of Down syndrome in a child, but it can determine whether there is an increased chance of the fetus having defects.
- The first option is to have a blood test during the first trimester (three months). Blood tests allow doctors to see certain "signs" that indicate the presence of Down syndrome.
- The second option is to have a blood test during the second trimester. This test looks for additional markers, examining 4 different markers for genetic material.
- Some people also use a combination of these two screening methods (known as an integrated test) to generate a Down syndrome chance rating.
- If the mother is carrying twins or triplets, the blood test will not be accurate enough because the related substances can be difficult to detect.
Step 2. Get prenatal diagnostic tests
This test involves taking a sample to be tested to find extra genetic material associated with chromosome 21. Test results usually come out in 1-2 weeks.
- In recent years, this test is required before diagnostic tests are performed. However, lately many people skip this test and go straight to the test.
- One way to extract genetic material is through amniocentesis, which is testing of amniotic fluid. This test cannot be done before 14-18 weeks of pregnancy.
- Another method is chorionic villus, in which cells are extracted from parts of the placenta. This test is performed during weeks 9-11 of pregnancy.
- The last method is percutaneous (PUBS), and is the most accurate. This method is done by taking blood from the umbilical cord through the uterus. The minus side of this method is that it cannot be carried out immediately enough, that is, at 18-22 weeks of pregnancy.
- All of the above testing methods carry a 1-2% risk of miscarriage.
Step 3. Test the mother's blood
If the mother thinks her fetus has Down's syndrome, she can request a chromosomal test from her blood. This test will determine whether his DNA carries genetic material consistent with the extra chromosome 21 material.
- The biggest factor that affects the chances of Down syndrome is the age of the mother. A 25-year-old woman has a 1/1200 chance of conceiving a baby with Down's syndrome. At age 35, this chance increases to 1/350.
- If one or both parents have Down's syndrome, the child has a high chance of developing Down's syndrome.
Method 2 of 4: Identifying Body Shape and Size
Step 1. Pay attention to the shape of the baby's muscles
Babies with low muscle tone usually droop or feel like a doll when held. This condition is called hypotonia. Babies usually have flexible elbows and knees, while babies with low muscle shape have loosely elongated joints.
- While babies with normal muscle tone can be picked up and carried under the armpits, hypotonic babies usually slip out of their parents' arms because their arms rise without resistance.
- Hypotonia results in weak abdominal muscles. Thus, his stomach bulged out more than usual.
- Another symptom is weak muscle control of the head (head rolling sideways, or back and forth).
Step 2. Pay attention to the child's height
People with Down syndrome tend to grow late compared to other children so they appear shorter. Newborns with Down syndrome are usually small and children with Down syndrome tend to be short throughout adulthood.
Studies in Sweden show that babies with Down syndrome have an average length of 48 cm, for both boys and girls. For comparison, the average length of babies born without defects is 51 cm
Step 3. Notice the short and wide neck
Also, look for excess fat or skin around the neck. In addition, other symptoms may include an unstable neck. Although neck dislocations are uncommon, these injuries are more common in babies with Down's syndrome than healthy babies. Caregivers should be aware of a bulge or pain behind the ear, a stiff neck that doesn't go away, or a change in the way the child walks (appears to be wobbly in the legs).
Step 4. Notice the short and stocky features of the body
This includes the feet, arms, and toes. People with Down syndrome usually have short legs and arms, a short torso, and higher knees than people without the disability.
- People with Down's syndrome often have finger membranes, which can be seen by the fusion of the index and middle toes.
- There is also a wide gap between the thumb and forefinger of the foot, and a deep crease at the base of the foot where this distance is located.
- The little finger sometimes has only one flexion furrow, or where the finger bends.
- Also pay attention to hyperflexibility. These symptoms can be recognized by joints that seem to extend beyond the normal range of motion. Children with Down's syndrome can do "splits" easily, and the result is a risk of tipping over easily.
- Another feature is the presence of a single crease that crosses the palm, and the little finger bends toward the thumb.
Method 3 of 4: Identifying Facial Features
Step 1. Notice the small, pug nose
Many people with Down's syndrome have round, wide, and flat noses with a small nose bridge. This bridge is the flat part of the nose between the eyes. This area looks like it's been "pushed in".
Step 2. Notice the slanted eye shape
People with Down syndrome usually have round eyes that tilt upwards. Normally, the outer corner of most people's eyes drop downwards, but the eyes of people with Down's syndrome turn upwards (almond-like shapes).
- In addition, the doctor can identify so-called Brushfield dots, or harmless brown or white spots within the iris of the eye.
- Also pay attention to the folds of skin between the eyes and nose. These folds resemble eye bags.
Step 3. Pay attention to the small ears
People with Down syndrome tend to have small ears that are located low on the head. Some people have ears that have slightly folded upper ends.
Step 4. Note the unusual shape of the mouth, tongue, and/or teeth
Due to the low muscle tone, the mouth tends to appear bent downwards and the tongue protrudes from the mouth. Teeth are usually late erupting and the order can be different. In addition, the teeth of people with Down syndrome are also small, oddly shaped, or in the wrong position.
An orthodontist can help straighten crooked teeth once your child is old enough. Children with Down syndrome can wear braces for a long time
Method 4 of 4: Identifying Health Problems
Step 1. Watch for intellectual and learning disabilities
Most people with Down syndrome are slow learners, and children are unable to keep up with their peers' learning speed. People with Down syndrome can be difficult or easy to talk, it all depends on the individual. Some children learn sign language or other forms of AAC before they can speak or take their place.
- People with Down syndrome easily understand new words and their vocabulary grows with age. Children will be more fluent at the age of 12 years than when they were 2 years old.
- Because grammatical rules are inconsistent and difficult to explain, people with Down syndrome can have difficulty mastering them. As a result, they usually use short sentences without much detail.
- People with Down syndrome can find it difficult to pronounce clearly due to impaired motor skills. They can also have difficulty speaking clearly. Many people with this syndrome are helped by speech therapy.
Step 2. Watch for heart problems
Nearly half of children with Down syndrome are born with heart problems. The most common disorders are Atrioventricular Septal Defect (formally known as Endocardial Cushion Defect), Ventricular Septal Defect, Persistent Ductus Arteriosus and Tetralogy of Fallot.
- Heart-related disorders include heart failure, difficulty breathing, and inability to survive during birth.
- Although many babies are born with heart defects, some only appear 2-3 months after birth. Therefore, every baby with Down's syndrome should receive an echocardiogram within a few months of birth.
Step 3. Watch for visual and hearing impairments
People with Down syndrome tend to have common illnesses that affect hearing and vision. Not all people with Down's syndrome need glasses or contact lenses, but most will experience nearsightedness or short-sightedness. In addition, 80% of people with Down syndrome will have some kind of hearing loss throughout their lives.
- People with Down syndrome usually need glasses or have misaligned eyes (also known as Strabismus).
- Frequent discharge or tears are a common symptom of Down syndrome.
- Hearing problems are usually associated with conductive loss (interference with the middle ear), sensori-neural loss (damage to the cochlea), and ear wax buildup. Because children learn language through hearing, this ear disorder affects their ability to learn.
Step 4. Watch for mental health disorders and personal developmental disabilities
At least half of children and adults with Down syndrome will experience mental health problems. Common defects in people with Down syndrome include: anxiety, obsessive compulsive and repetitive behaviors; oppositional, impulsive, and inattentive behavior; sleep-related disorders; depression; and autism.
- Young children (elementary school age) who have difficulty speaking and communicating usually show symptoms of ADHD, Oppositional Defiant Disorder, and mood disorders, as well as a lack of social relationships.
- Adolescents and young adults usually exhibit symptoms of depression, generalized anxiety, and obsessive-compulsive behavior. They also show symptoms of chronic sleeplessness and daytime fatigue.
- Adults are prone to anxiety, depression, social withdrawal (always aloof behavior), loss of interest, and not caring about themselves which can then progress to dementia.
Step 5. Watch for other health conditions that may develop
While people with Down syndrome can live healthy and happy lives, they are also more prone to developing these conditions as children and as they age.
- The risk of developing acute leukemia is greater in children with Down syndrome. This risk is many times much greater than other children
- In addition, with increasing life expectancy thanks to better health services, there is an increased risk of Alzheimer's disease in the elderly with Down syndrome. As many as 75% of people with Down syndrome over the age of 65 have Alzheimer's.
Step 6. Consider motor control
People with Down syndrome may have difficulty with fine motor skills (eg writing, drawing, eating with cutlery) and gross (walking, going up and down stairs, running).
Step 7. Remember that everyone has their own personality
Each person with Down syndrome is unique, and will have different skills, physical traits, and personalities. People with Down's syndrome may also not exhibit the symptoms listed above, and have different symptoms to some degree. Like healthy humans, people with Down syndrome are very diverse and each is a unique individual.
- For example, one woman with Down's syndrome can communicate via text, has a job, and has few intellectual disabilities, while her child is highly verbal, likely unable to work, and severely intellectually disabled.
- If a person has some symptoms but others do not, you should still consult a doctor.
Tips
- Prenatal examinations are not 100% accurate and cannot determine the outcome of delivery, but they do allow doctors to estimate the chances of a child being born with Down's syndrome.
- Keep up to date with news about things that can be used to improve the quality of life for Down syndrome.
- If you were concerned about Down syndrome before the birth of your child, there are chromosomal tests that can help determine the presence of extra genetic material. While the results can be surprising, knowing them early allows parents to prepare.
- Don't assume that someone has Down's syndrome based on other people's symptoms of Down's syndrome. Every human being is unique, and the symptoms that exist in each person can be different.
- Don't be afraid of a Down's syndrome diagnosis. Many people with Down syndrome live happily and become great people. Children with Down syndrome are easy to love. Many are very sociable and have energetic personalities that help them lead happy lives.
