What is Down Syndrome? What are the Causes, Symptoms and Treatment?

Down syndrome, due to an error in cell division; It is a genetic condition that occurs when an extra chromosome results in 21. This genetic condition can affect a person’s cognitive ability and physical development. You can find more information below.

What is Down syndrome?

Down syndrome ; It is a genetic disease that occurs when abnormal cell division causes an extra full or partial copy of chromosome 21 . This extra genetic chromosome causes the developmental changes and physical characteristics of Down syndrome.

Although the severity of the disease varies among individuals with Down syndrome, it causes lifelong intellectual disability and developmental delays. It is the most common genetic chromosomal disorder and the cause of learning difficulties in children. It also causes other medical abnormalities, including heart and gastrointestinal (gastrointestinal) disorders.

Detection of Down syndrome and a better understanding of early interventions can greatly improve the quality of life for children and adults with the disorder and help them live fulfilling lives.

Causes of Down syndrome

Human cells normally contain 46 pairs of chromosomes. 23 chromosomes come from your father, 23 chromosomes from your mother. People with Down syndrome have a total of 47 chromosomes due to the extra copy occurring on the 21st chromosome.

Down syndrome occurs when abnormal cell division occurs on chromosome 21. These cell division abnormalities result in an extra partial or complete 21st chromosome. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any of the following three genetic variations can cause Down syndrome:

  • Trisomy 21: About 95% of Down syndrome is caused by trisomy 21. A person has three copies of chromosome 21 instead of the normal two copies in all cells. This condition is caused by abnormal cell division during the development of the sperm cell or egg cell.
  • Mosaic Down syndrome: In this rare form of Down syndrome, a person only has some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells results from abnormal cell division after fertilization.
  • Translocation Down syndrome: Down syndrome can occur when part of chromosome 21 attaches (translocates/translocates) onto another chromosome. These children have two normal copies of chromosome 21, but they have additional genetic material attached to a chromosome other than chromosome 21.

There are no known behavioral or environmental factors that cause Down syndrome.

Who is at risk?

Some parents have a higher risk of having a baby with Down syndrome. Risk factors include:

  • Older maternal age: A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs are at higher risk of improper chromosome division. A woman’s risk of giving birth to a child with Down syndrome increases after age 35. Still, most children with Down syndrome are born to women under the age of 35 because younger women have a much higher chance of having a baby.
  • Being carriers of the genetic translocation for Down syndrome: Both men and women can pass the genetic translocation for Down syndrome to their children.
  • Having another child with Down syndrome: Parents who have a child with Down syndrome who have a translocation have a higher risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.
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Is Down syndrome genetic?

Most of the time, Down syndrome is not inherited. It is caused by an error in cell division during the early development of the fetus.

Translocation Down syndrome can be passed from parent to child. However, only 3% to 4% of children with Down syndrome have a translocation, and only some have inherited it from one of their parents.

When translocations are inherited, the mother or father has rearranged genetic material but no extra genetic material. This means that it has no signs or symptoms of Down syndrome, but can pass an unstable translocation to children and cause Down syndrome in children.

Down syndrome symptoms

Every person with Down syndrome is different. Mental and developmental problems can be mild, moderate or severe. Some people with Down syndrome are healthy, while others have significant health problems, such as serious heart defects.

Children and adults with Down syndrome have different facial features. Although not all people with Down syndrome have the same characteristics, some of the common characteristics include:

  • flattened face
  • Small head
  • short neck
  • protruding tongue
  • Inclined eyelids ( palpebral fissures )
  • Unusually shaped or small ears
  • Poor muscle tone (the tension required for muscle contraction)
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers, small hands and feet
  • extreme flexibility
  • Small white spots on the colored part of the eye (iris) called Brushfield spots
  • Short

Babies with Down syndrome may be of average size, but typically grow slowly and stay shorter than other children of the same age.

Mental disabilities

Most children with Down syndrome have mild or moderate cognitive impairment . Speech ability and both short-term and long-term memory are negatively affected. Various symptoms such as perceptual disorders, distraction, and restlessness are encountered.

When should you see a doctor?

Children with Down syndrome are usually diagnosed before or at birth. However, if you have any questions about your pregnancy or your child’s growth and development, you should talk to your doctor.

Down syndrome diagnosis

Obstetricians and gynecologists in many countries offer the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age.

  • Screening tests can show the mother’s likelihood or chance of carrying a baby with Down syndrome. However, these tests cannot definitively tell or diagnose whether the baby has Down syndrome.
  • Diagnostic tests can determine or diagnose whether your baby has Down syndrome.

Your doctor can talk to you about the types of tests, their benefits, risks, and the meaning of the results. If necessary, your doctor may suggest that you speak to a genetic counselor.

Screening tests during pregnancy

Down syndrome screening is offered as a routine part of prenatal care. Although screening tests only identify your risk of carrying a baby with Down syndrome, more specific diagnostic tests can help you make decisions about the process.

Screening tests include the first trimester combined test and the integrated screening test.

First trimester combined testing

The two-step first trimester combined test includes:

  • Blood test: This blood test measures the levels of pregnancy hormones known as pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
  • Nuchal transparency test: During this test, an ultrasound is used to measure a specific area at the back of your baby’s neck. This is known as the nuchal transparency screening test. When there are abnormalities, more fluid than normal tends to collect in this neck tissue.

Using your age, blood test and ultrasound results, your doctor or genetic counselor can estimate your risk of having a baby with Down syndrome.

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Diagnostic tests during pregnancy

If your screening test results are positive or alarming, or if you are at high risk of having a baby with Down syndrome, you may want to consider further testing to confirm the diagnosis. Your doctor can help you weigh the pros and cons of these tests.

Diagnostic tests that can identify Down syndrome include:

  • Chorionic villus sampling (CVS): In CVS, cells are taken from the placenta and used to analyze fetal (fetal/fetal) chromosomes. This test is typically done in the first trimester between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) during a CVS is very small.
  • Amniocentesis: A sample of the amniotic fluid surrounding the fetus is drawn through a needle inserted into the mother’s uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually do this test in the second trimester after 15 weeks of pregnancy. This test also carries a very small risk of miscarriage.

Preimplantation genetic screening test is an option for couples undergoing in vitro fertilization (IVF), known as IVF, and who are at high risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it is placed in the uterus.

Diagnostic tests in newborns

After birth, the first diagnosis of Down syndrome is usually based on the baby’s appearance. However, features associated with Down syndrome can be found in infants without Down syndrome.

Therefore, your doctor will likely order a test called a chromosomal karyotype to confirm the diagnosis. Using a blood sample, this test analyzes your child’s chromosomes. If all or some cells have an extra chromosome 21, the diagnosis is Down syndrome.

Down syndrome treatment

For babies and children with Down syndrome, early intervention can make a big difference in improving their quality of life. Because every child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.

Expert doctors and teams

If your child has Down syndrome, you will likely need to rely on a team of specialists who can provide medical care and help them develop their skills as fully as possible. Depending on your child’s specific needs, your team may include some of the following specialists:

  • Primary care pediatrician (Pediatrics)
  • pediatric cardiologist
  • Pediatric gastroenterolog
  • Pediatric endocrinologist
  • developmental pediatrician
  • pediatric neurologist
  • Pediatric ear, nose and throat (ENT) specialist
  • pediatric ophthalmologist
  • Audiologist
  • speech pathologist
  • Physiotherapist
  • occupational therapist

The experts above can help assess what you can do and recommend programs for children and adults with disabilities.

coping and support

When you learn that your child has Down syndrome; You may experience a range of emotions, including anger, fear, anxiety, and sadness. You may not know what to expect and may worry about your ability to care for a child with a disability. The best antidote to fear and anxiety is information and support.

Consider these steps to prepare yourself and care for your child:

  • Ask your doctor about early intervention programs in your area: These special programs are available in most cities; It is highly beneficial for children from an early age (typically up to age 3) to help develop motor, language, social and self-help skills.
  • Learn about education options for school: Depending on your child’s needs, this may mean attending regular classes, special education classes, or both in the process. With your doctor’s recommendations, you can choose appropriate options.
  • Seek out other families dealing with the same issues: Most societies have support groups for parents of children with Down syndrome. You can also find internet support groups. Family and friends can also be a source of understanding and support.
  • Engaging in social and leisure activities: Make time for family outings and attend or engage in social activities with your child, such as picnic programs, sports teams, or ballet lessons. Children with Down syndrome can benefit from social activities with adults.
  • Encourage independence: Your child’s abilities may differ from those of other children, but with your support and some practice, your child can perform tasks such as packing lunch, learning to dress, light cooking and laundry.
  • Prepare for the transition to adulthood: Conditions and requirements for daily living, working life, social and leisure activities can be researched before your child leaves school.
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A bright future can be expected for people with Down syndrome without falling into pessimism. Most people with Down syndrome can live with or independently with their families, attend public schools, read and write, participate in the community and society, and have working lives. People with Down syndrome can live fulfilling lives.

Can Down syndrome be prevented?

There is no way to prevent Down syndrome. If you are at high risk of having a child with Down syndrome or if you already have a child with Down syndrome, you may want to talk to a genetic counselor before getting pregnant.

A genetic counselor can help you understand your chances of having a child with Down syndrome. It can also explain the prenatal (prenatal) tests available and help explain the pros and cons of testing.

Down syndrome complications

People with Down syndrome can have a variety of complications, some of which become more obvious as they age. These complications can include:

  • Heart defects: About half of children with Down syndrome are born with some type of congenital heart defect (congenital pathologies that negatively affect heart function). These heart problems can be life-threatening and require surgery in early infancy.
  • Gastrointestinal defects: Some children with Down syndrome have gastrointestinal (gastrointestinal) abnormalities and these may include abnormalities of the intestine, esophagus, trachea, and anus. In this case, there may be an increased risk of developing digestive problems such as heartburn or celiac disease.
  • Immune disorders: Due to abnormalities in their immune systems, people with Down syndrome are at risk of developing diseases such as autoimmune diseases , certain types of cancer, and pneumonia (pneumonia).
  • Sleep apnea: Children and adults with Down syndrome are at risk for obstructive sleep apnea because of the soft tissue and skeletal changes that lead to obstruction of the airways.
  • Obesity: People with Down syndrome tend to be obese compared to the general population.
  • Spine problems: Some people with Down syndrome may have misalignment of the top two vertebrae in the neck ( atlantoaxial instability ). This condition carries the risk of serious injury to the spinal cord due to excessive extension of the neck.
  • Leukemia: Young children with Down syndrome have an increased risk of leukemia.
  • Dementia: People with Down syndrome have a greatly increased risk of dementia (a group of diseases that affect memory and social skills). Signs and symptoms can begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer’s disease.
  • Other problems: Down syndrome can also be associated with other health conditions, such as endocrine (internal glands) problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating problems as needed can help maintain a healthy lifestyle.

How long do people with Down syndrome live?

Life expectancy for people with Down syndrome has increased significantly. Today, a person with Down syndrome may have a life expectancy of more than 60 years, depending on the severity of their health problem.

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