What is Down Syndrome? How Does a Baby with Down Syndrome Happen?

We know that Down syndrome is a difficult situation for both you and your baby. But don’t be pessimistic; because there is so much you can do to make your child with down syndrome a happier and healthier person!

What is Down syndrome, what are its symptoms and what should mothers of babies with Down syndrome do? We have prepared a very comprehensive article. Let’s start reading!

We know that Down syndrome is a difficult situation for both you and your baby. But don’t be pessimistic; because there is so much you can do to make your child with down syndrome a happier and healthier person!

What is Down syndrome, what are its symptoms and what should mothers of babies with Down syndrome do? We have prepared a very comprehensive article. Let’s start reading!

What is Down syndrome?

As a misconception, Down syndrome is thought to be a disease. Down syndrome, also called “daun syndrome” or “daum syndrome” among the people, is a genetic difference caused by a chromosomal abnormality that occurs by chance during pregnancy, it is not a disease.

Babies with Down syndrome have extra genetic material on the 21st chromosome pair in the body cell. In most cases there are 3 copies of chromosome 21, of which there should be two copies. This condition is called “Trisomy 21”. This extra genetic material directly affects the mental and physical development of the baby.

March 21 is celebrated as ” Day of Down Syndrome ” around the world .

What causes Down syndrome?

One of the most curious subjects is the question of whether down syndrome is genetic . Down syndrome occurs due to a genetic difference.

Types of Down syndrome

There are 3 different causes that make up the types of Down syndrome . Now let’s take a look at them one by one.

Trisomy 21

In most cases, there are too many chromosomes, as we mentioned above. How many chromosomes do people with Down syndrome have, the number of chromosomes in a child with Down syndrome is 47, not 46.

Translokasyon

In 4% of cases, there are also other anomalies in chromosome 21. For example, a part of a normal chromosome 21 breaks off and attaches to another chromosome in the mother or father (translocation). The mother or father remains normal as the amount of genetic material is normal. But when this “additional” chromosome is passed on to the baby, down syndrome occurs.

Mosaicism

Very rarely, an accident in the fertilized egg results in an extra chromosome in some cells. This condition is called mosaicism. Some of the symptoms of Down syndrome are seen in children born in this way.

Down syndrome symptoms

So, how is Down syndrome diagnosed? Let’s look at the characteristics of people with Down syndrome together.

  • Decreased muscle resistance (hypotonia),
  • Short,
  • The nasal root is flat,
  • upward squinting of the eyes,
  • excessively large tongue
  • Weakness in hearing and vision functions,
  • Having a single line on the palm,
  • Mild to moderate mental retardation
  • slow growth,
  • Cardiac anomalies,
  • The back of the head is straight
  • Ears are small, sometimes curved upwards,
  • Internal organ defects in the gastrointestinal tract are features of Down syndrome.

newborn baby with Down syndrome

Newborns with Down syndrome are not much different from others. Because in this period, all newborns spend their days sleeping, feeding and watching the surroundings. However, low muscle resistance, called hypotonia, is noticeable while feeding or taking care of the baby.

Who gets Down syndrome?

The incidence of Down syndrome is approximately 1 in 1300 babies.

  • Babies of parents who have a birth defect,
  • Those who have a chromosomal disorder in their mother or father,
  • Those who become pregnant over the age of 35 have a higher risk of giving birth to a baby with Down syndrome. Like late pregnancy , being pregnant under the age of 20 is also a risk factor.

How many years do people with Down syndrome live?

We can’t say for sure about this, but there are studies that show that people with Down syndrome live 15-20 years less than other people. With good care and follow-up conditions, life expectancy can be extended up to 50 years. The leading causes of Down syndrome death are congenital heart disease, infections and malignancy.

Feeding babies with Down syndrome

  • Since the muscle resistance in the mouth and throat areas is low, they may have difficulty in sucking. They can learn to suckle slowly.
  • Sucking movements are not rhythmic. She may become breathless and gag while sucking.
  • They can stretch their body like a spring.
  • They are extremely sensitive to stimuli. Therefore, they are easily distracted during feeding.
  • Babies with Down syndrome, who also have heart problems, may become tired without being able to breastfeed.
  • With patience and time, your baby will be able to suckle, don’t worry.
  • Upper and lower respiratory tract infections and ear infections are more common in babies with Down syndrome. The antibodies pass to the baby through breast milk. That’s why breastfeeding isn’t just for feeding; It is also very important for health.
  • Breast sucking is also very beneficial for the development of mouth and tongue coordination.
  • Sometimes you may need to feed because your baby has trouble suckling. Don’t feel guilty. Talk to your doctor, he will tell you how much of which formula you should give.

Sleep patterns of babies with Down syndrome

Newborns sleep often, we mentioned. Do babies with Down syndrome sleep a lot? Babies already spend the first time after birth with plenty of sleep, but this can happen more in babies with Down syndrome. Remember, you need to wake your baby up every 2-3 hours and breastfeed. If there is any movement in his eyes and hands, he is in a light sleep. It will be easier to wake up.

Baby development chart with Down syndrome

Age range for children with Down syndromeAge range applicable to most children
gross motor
can sit alone6-30 ay5-9 ay
labors8-22 ay6-12 ay
stands up1-3 years 3 months8-17 ay
can walk alone1-4 years9-18 ay
The heart
first word1-4 years7-12 ayl
two-word phrases2-7.5 years15-36 ay
personal and social
return smile1,5-5 ay1-3 ay
Eating with your fingers10-24 ay7-14 ay
Drinking from a glass without assistance12-32 ay9-17 ay
Using a spoon13-39 ay12-20 ay
bowel control2-7 years16-42 ay
Dressing without assistance3.5-8.5 years3 years 3 months-5 years

Note: We obtained the data in the table from the National Down Syndrome Association.

Health of babies with Down syndrome

hearing problems

  • 75% have more or less hearing loss. Often the cause is fluid accumulation in the ear canal; because babies with Down syndrome have narrow ear canals.
  • Air is supplied to the ear canal with the inserted ear tube.
  • Hearing loss; It can also be caused by a problem with the nerves between the ear and the brain. In such a case, a hearing aid is used.
  • Your baby’s hearing is assessed at birth, as in all newborns.
  • Ear infections are also common, as their ear canals are narrow and prone to respiratory diseases. Even if your baby passes the hearing test successfully, you should have an ear infection treated as soon as possible. Because infections can also cause hearing loss.
  • Hearing loss also causes retardation in language and communication skills.

vision problems

  • 60% of children with Down syndrome have eye problems such as strabismus, nystagmus or cataracts.
  • The treatment of these problems is the same as for other children.
  • Myopia and hyperopia are also common.
  • It is necessary to use glasses between the ages of 3-5.

heart-related problems

  • Congenital heart problems affect 40%-50% of children with Down syndrome.
  • Heart disorders are usually caused by the incomplete formation of heart tissue. For this reason, a hole occurs in the heart that causes problems with blood flow.
  • Surgery may be required for the removal of defects, usually in the period up to 1 year of age.

thyroid problems

  • Hypothyroidism, which is the inability of the thyroid gland to produce some hormones that help control metabolism, is common in infants with Down syndrome.
  • Hypotriot symptoms such as low growth rate, weight gain, dry skin, constipation and fatigue can be confused with Down syndrome symptoms. However, hypothyroidism is a treatable disease. Hormone supplements can minimize or completely eliminate the effects of a lazy thyroid gland.
  • You should get screenings for thyroid problems at birth, when your baby is 6 and 12 months old, and once a year thereafter.

gastrointestinal problems

  • Some babies with Down syndrome are born with a duodenal obstruction (duodenal atresia).
  • This disease occurs when the duodenum is not fully developed and is closed to the stomach, preventing the passage of food. It is most often diagnosed during an ultrasound examination before birth.
  • Surgery is performed for the treatment of this disease, the symptoms of which are feeding difficulties, abdominal bloating and constant vomiting.
  • Down syndrome also poses a risk for celiac disease (gluten allergy). Celiac disease occurs in 5% to 15% of people with Down syndrome. If your baby has stomach ache after switching to solid food, you should take him to the doctor.
  • A small number of babies with Down syndrome may also have a type of nerve cell deformation called Hirschsprung, which is congenital and makes it difficult to poop in the large intestine. If the baby cannot poop for 1-2 days after birth, the doctor may suspect this disease. Surgery is usually performed for its treatment.

joint problems

  • About 15% of the first and second vertebrae of the upper part of the spine are misaligned due to loose connective tissues. The medical name for this is atlantoaxial incompatibility.
  • This defect carries the risk of spinal pressure, which can rarely lead to paralysis.
  • Neck pain, bending of the neck to one side, changes in gait, loss of function in the bladder and intestines, and muscle weakness are among the symptoms of the disease. You can use a neck brace for protection. If it is advanced, the doctor may recommend surgery.

obstructive sleep apnea

  • Structural disorder in the head and neck region causes obstructive sleep apnea. It occurs when the neck muscles relax at intervals and block the airway during sleep. It usually becomes a more important problem after 1 year of age.
  • Snoring, restlessness, and breathing that stops and restarts repeatedly during sleep are the symptoms of the disease.
  • Disease; It is also associated with mental defects, reduced visual perception skills, high blood pressure and other cardiovascular problems.
  • An instrument is worn at night for treatment. In addition, various surgical interventions can be applied that change the structure of the mouth, nose and neck.

behavioral problems

Autism and other behavioral problems are more common in children with Down syndrome. Symptoms are first noticed when they are 2 or 3 years old.

Down syndrome treatment

“He has down syndrome anyway and it will never go away.” don’t think so. It is up to you to use it to its highest possible potential in terms of mental and physical development.

Generally, children with Down syndrome have high social intelligence. Therefore, if their coexistence with normal children is ensured by inclusive education, the little ones with Down syndrome can be very successful and happy according to their potential.

Yes, there is no cure for down syndrome, but there is a fact that its effects are reduced and turned into a positive one. Here’s what you can do for your baby:

Physiotheraphy

Physical therapy is very beneficial for the baby, who also has retardation in the development of motor skills due to muscle weakness. If his muscles get stronger, he can hold his head up and sit up by himself.

Speech and language therapy

speaking skills; It is based on the same muscle and body systems as breathing, swallowing and eating. Speech therapist conducts breast sucking skills exercises in order to develop the baby’s jaw and facial muscles in order to prepare the baby for speech.

Apart from this, he applies methods such as imitating sounds, communicating with mimics, learning by touch.

In the meantime, learning sign language can also be beneficial for a child with Down syndrome.

Continuing these studies until the child is at least 6 years old will be useful for solving speech problems.

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