Down syndrome is a disability caused by the presence of a partial or complete extra copy of the 21st chromosome. Excess genetic material alters the normal course of development, causing various mental and physical problems associated with the syndrome. There are more than 50 characteristics linked to Down syndrome, which however can vary from person to person. The risk of conceiving a child with the syndrome increases as the mother ages. Early diagnosis can help your child receive the support they need to become a happy and healthy adult.
Steps
Method 1 of 4: Diagnosing the Syndrome in the Prenatal Period
Step 1. Get a prenatal screening test
This test cannot detect with certainty whether the fetus has Down syndrome, but it does give an estimate of the likelihood of the disability occurring.
- The first option is to have a blood test during the first trimester. The tests allow the doctor to look for some "markers" that indicate the likelihood of Down syndrome.
- The second option is a second trimester blood test. In this case, up to 4 additional markers are detected that analyze the genetic material.
- Some people use a combination of both screening methods (a procedure known as an integrated test), in order to know more precisely the likelihood that the fetus has Down syndrome.
- If the mother is pregnant with two or more twins, the test will not be as accurate as it is more difficult to detect the markers.
Step 2. Get a prenatal diagnostic test
This test involves collecting a sample of genetic material and having it analyzed for trisomy on chromosome 21. Test results are usually provided in 1-2 weeks.
- In previous years, screening tests were required before the diagnostic test could be performed. More recently, many people skip screening and go straight to this exam.
- One method of extracting genetic material is amniocentesis, in which amniotic fluid is taken and analyzed. This test should be done after 14-18 weeks of gestation.
- Another method is CVS, in which cells are extracted from the placenta. This test is done 9-11 weeks after the start of pregnancy.
- The final method is cordocentesis and is the most accurate. It requires taking blood from the umbilical cord through the uterus. The downside is that it can only be done in late pregnancy, between week 18 and week 22.
- All tests carry a 1-2% risk of miscarriage.
Step 3. Get a blood test
If you think your child may have Down syndrome, you can request a blood chromosome test. This test determines whether the DNA contains the genetic material related to the trisomy of chromosome 21.
- The factor that most influences the onset of the syndrome is the age of the mother. Women aged 25 have a 1 in 1200 chance of having a Down child, while women aged 35 have a 1 in 350 chance.
- If one or both parents have Down syndrome, the child is more likely to suffer from it as well.
Method 2 of 4: Identify the Shape and Size of the Body
Step 1. Check for low muscle tone
Infants with poor muscle tone are usually described as limp and ragdoll-like when held in the arms. This symptom is known as hypotonia. Healthy babies usually keep their elbows and knees bent, while those with low muscle tone have their joints stretched out.
- While infants with normal muscle tone can be lifted and held in the armpits, those with hypotonia usually slide out of their parents' arms because their arms are raised without resistance.
- Hypotonia causes weakness of the abdominal muscles. As a result, the belly extends outward more than usual.
- Another symptom is poor control of the head muscles (moving from side to side or back and forth).
Step 2. Notice if the baby is unusually short
Children with Down syndrome often grow slower than others, so they are shorter. Infants with the syndrome are usually small, and people with the condition often remain short even as adults.
A study conducted in Sweden shows that the average height of children of both sexes with Down syndrome is 48 cm. In comparison, the average height of healthy infants is 51.5 cm
Step 3. Notice if the baby's neck is short and wide
Also look for excess skin or fatty tissue in the neck. A common problem with Down syndrome is neck instability. Although neck dislocation is rare, it is more common in people with this condition. Caregivers of children with the syndrome should watch out for swelling or pain behind the ear, notice if the neck is stiff or not heal quickly, and if there are any changes in the patient's walking pattern (which may appear unsteady on the legs).
Step 4. Notice if the limbs are short and stocky
Look at the legs, arms, fingers and toes. Down syndrome sufferers often have short arms and legs, short chest and higher knees than other people.
- People with Down syndrome often have webbed toes, which means they have fusion of the second and third toes.
- It may also have more space than normal between the big toe and the second toe, as well as a deep crease on the sole of the foot at the space.
- The fifth toe (the little finger) often has only one joint.
- Hyperflexibility is also a symptom. You can recognize it by the joints that easily extend beyond the normal range of motion. A child with Down syndrome can easily do the splits and risk falling as a result.
- Other typical features of the syndrome are a single line along the palm of the hand and the little finger that curves towards the thumb.
Method 3 of 4: Identify Facial Features
Step 1. Notice if the nose is flat or small
Many people with Down syndrome are described as having a flat, round, wide nose with a small bridge. The bridge of the nose is the flat section between the eyes. This area is often described as "sunken".
Step 2. Notice if the eyes are almond shaped
Down syndrome sufferers often have round eyes tilted upwards, unlike the population average, where the angles are turned downwards.
- Additionally, doctors can recognize so-called Brushfield's spots, harmless brown or white spots in the iris of the eyes.
- The skin may have folds between the eyes and nose, similar to bags.
Step 3. Notice if the ears are small
Down syndrome sufferers have a tendency to have small ears, set lower on the head than healthy people. In some cases, they fold slightly in on themselves.
Step 4. Notice if your mouth, tongue, or teeth are irregular in shape
Due to hypotonia, the mouth may appear to be bent down and the tongue may stick out. Teeth can develop late and in unusual order. They can also be small, oddly shaped, or out of place.
An orthodontist can help straighten the teeth of children with Down syndrome, who often have to wear braces for a long time
Method 4 of 4: Identify Health Problems
Step 1. Look for learning and mental disorders
Almost all people with Down syndrome learn slower, and children do not achieve educational goals as quickly as their peers. Talking can be a challenge for sufferers, but this symptom varies greatly on a case-by-case basis. Some learn sign language or another alternative form of communication before they can speak or as a substitute for verbal communication.
- Down syndrome sufferers easily understand new words and their vocabulary improves with age. Your child will be much more skilled at 12 than at 2.
- Since the rules of grammar are incongruent and difficult to explain, people with the syndrome often cannot master them. As a result, sufferers often use short, poorly detailed sentences.
- Spelling can be difficult for them because they have limited motor skills. Speaking clearly can also be a challenge. Many sufferers can improve with the help of a speech therapist.
Step 2. Note the presence of heart defects
Almost all babies with Down syndrome are born with heart defects. The most common are the interventricular defect, the atrial defect, the patency of the Botallo duct and the tetralogy of Fallot.
- Complications resulting from heart defects include heart failure, difficulty in breathing, and problems in the development of the newborn.
- Although many babies are born with heart defects, in some cases they only show up 2-3 months after delivery. For this reason, it is important that all children with Down syndrome undergo an echocardiogram in the first months of life.
Step 3. Notice if you have vision or hearing problems
Down syndrome sufferers are more likely to develop common disorders affecting vision and hearing. Not all people with the syndrome need glasses or contact lenses, but many suffer from nearsightedness or farsightedness. In addition, 80% of sufferers have a hearing loss in their lifetime.
- People with the syndrome are more likely to need glasses and suffer from strabismus.
- Another common problem for sufferers is pus discharge from the eyes or frequent tearing.
- Hearing loss can be conductive (interference with the middle ear), sensorineural (damage to the cochlea), or due to excessive accumulation of ear wax. As children learn language by listening, hearing problems limit their learning ability.
Step 4. Note the presence of mental health problems and developmental disabilities
At least half of all children and adults with Down syndrome suffer from mental problems. The most common include: general anxiety, repetitive and obsessive behaviors; oppositional, impulsive behaviors and attention disorders; sleep-related problems; depression and autism.
- Younger (preschool-aged) children who have speech and communication difficulties typically present with symptoms of ADHD, oppositional defiant disorder, mood disorders, and social relationship deficits.
- Teenagers and young adults usually present with depression, general anxiety, and obsessive-compulsive behaviors. They may also develop chronic difficulty sleeping and feel fatigued during the day.
- Adults are vulnerable to anxiety, depression, social isolation, loss of interest, poor self-care, and in old age they can develop dementia.
Step 5. Pay attention to other possible health problems
Although people with Down syndrome can lead happy and healthy lives, they are at a higher risk of developing certain conditions as children and as they age.
- For children with Down syndrome, the risk of acute leukemia is much higher.
- Furthermore, thanks to the increase in life expectancy due to medical advances, the risk of Alzheimer's is higher among those with Down syndrome. 75% of people with the syndrome over the age of 65 develop this pathology.
Step 6. Consider motor control skills
People with Down syndrome may have difficulty with precision movements (such as writing, drawing, eating with cutlery) and even less precise ones (walking, climbing or descending stairs, running).
Step 7. Remember that different people have different characteristics
Each patient is unique and all have different abilities, psychological characteristics and personalities. Sufferers of the syndrome may not have all of the symptoms described here or may show others with varying degrees of intensity. Just like healthy people, those with this disability are also varied and unique.
- For example, a woman with Down syndrome may communicate by writing, work and have only a mild intellectual disability, while her child may speak without problems, be unable to work and have severe intellectual disabilities.
- If a person has some symptoms but not others, it is still worth seeing a doctor.
Advice
- Prenatal screenings are not 100% accurate and cannot determine the outcome of delivery, but they do allow doctors to understand how likely a child is to be born with Down syndrome.
- Stay up to date on the sources you can rely on to improve the life of a person with Down syndrome.
- If you have concerns about the syndrome before birth, there are tests such as chromosomal tests that help determine the presence of excess genetic material. While some parents prefer to be surprised, knowing about any problems in advance can be helpful so you can prepare for them.
- Don't think that all people with Down syndrome are the same. Each is unique, with different characteristics and traits.
- Don't fear the diagnosis of Down syndrome. Many sick people lead happy lives and are capable and determined. Children with the syndrome are easy to love. Many are social and cheerful by nature, traits that will help them throughout their lives.
