Abnormal cell division leads to this Down syndrome. It can lead to several complications and hinder your child’s life. Therefore, the right information on this syndrome can help you to handle this syndrome.
Read further to learn more about Down syndrome and treatment procedures.
What is Down Syndrome?
A child with Down syndrome is born with an extra copy of the 21st chromosome (trisomy 21). This results in mental and physical developmental issues and disabilities.
Many of the impairments are permanent and can also reduce life expectancy. Despite this, individuals with Down syndrome can have healthy, productive lives.
A better comprehension of Down syndrome and early intervention can significantly improve the quality of life for children and adults. With this, the person with this syndrome can live more satisfying lives.
What Causes Down Syndrome?
In every occurrence of reproduction, both parents give their genes to their offspring. The chromosomes transport these genes. When the baby’s cells mature, each cell would receive 23 chromosome pairs, for a total of 46 chromosomes. Half of the chromosomes are from the mother, while the other half comes from the father.
Down syndrome is caused by chromosome 21 cell division abnormalities. These defects in cell division resulting in an additional partial or whole chromosome 21. This additional genetic material is responsible for Down syndrome’s distinguishing traits and developmental issues.
Down Syndrome Symptoms and Complications
Here are some of the symptoms and complications found in down syndrome patients:
Symptoms of Down Syndrome
- Small head
- Short neck
- Short height
- Extreme flexibility
- Protruding tongue
- Upward slanting eyelids
- Abnormally shaped or diminutive ears
- Poor muscle tone
- Having relatively short fingers, hands, and feet
Complications of Down Syndrome
People who have Down syndrome can experience a range of difficulties, some of which become more severe with age. These down syndrome complications include:
- Gastrointestinal (GI) defects
- Heart defects
- Sleep apnea
- Spinal problems
- Immunity disorders
- Dental issues
- Vision problems
- Hearing issues
To avoid severe complications early diagnosis is quite necessary. One must get routine medical care and treatment to maintain a healthy lifestyle.
Down Syndrome Diagnosis
To diagnose Down syndrome the option of screening and diagnostic tests are given to pregnant women.
- Screening Tests
Prenatal care includes routine testing for Down syndrome. Screening tests warn you if you’re at risk of having a baby with Down syndrome. The test helps to decide whether or not to have further diagnostic tests.
The screening test includes a first-trimester combined test and an integrated screening test.
1. First Trimester Combined Test
This particular test involves two steps:
Blood test –
The test takes the following measurements:
- pregnancy-associated plasma protein-A (PAPP-A)
- Human chorionic gonadotropin (HCG)
The case of abnormal levels of PAPP-A and HCG indicates a problem with the baby.
Nuchal translucency test –
This test involves an ultrasound to measure an area around the back of the baby’s neck. More than usual fluid collects in this neck tissue in an abnormal case.
2. Integrated Screening Test
This test is done two times during the first and second trimesters. Both the test results are combined to estimate the risk that your baby’s Down syndrome.
The first test as mentioned above includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
Whereas, the second test involves a quad screen that takes measurements of your blood levels of estriol, alpha-fetoprotein, HCG and inhibin A.
- Diagnostic Tests During Pregnancy
Consider additional testing to confirm the diagnosis if:
- your screening results are positive or concerning
- you’re at high risk of having a kid with Down syndrome.
Your doctor can help you balance the benefits and drawbacks of these tests. The diagnostic test to identify Down syndrome includes:
1. Chronic Villus Sampling (CVS):
Placental cells are taken and used to study fetal chromosomes. Usually, this test is performed between 10 and 13 weeks of pregnancy. A miscarriage risk from a CVS is extremely low.
This procedure extracts amniotic fluid around the fetus by inserting an intrauterine needle into the mother’s uterus. The chromosomes of the fetus are then examined using this sample. This test is often administered in the second trimester, following 15 weeks of pregnancy. In addition, this test carries an extremely minimal risk of miscarriage.
- Diagnostic Tests for Newborns
In many cases, a baby’s appearance is used to determine if he or she has Down syndrome. However, Down syndrome-related characteristics can be observed in babies who do not have the disorder.
As a result, your doctor is likely to prescribe a chromosomal karyotype test to help them make a more certain diagnosis. This test evaluates your child’s chromosomes using a blood sample.
Down syndrome is diagnosed when an extra copy of chromosome 21 is present in all or some cells.
Down Syndrome Treatment and Prevention
Early diagnosis, treatment and prevention of Down syndrome can help in the patient’s improvement. This syndrome of each child with Down syndrome is different. Therefore, the plan of treatment varies.
Children with Down syndrome mostly need various therapies. Some of which focus on the patient’s physical health.Whereas other therapies help the child’s overall growth and make them independent.
- Physical Therapy:
The majority of infants with Down syndrome have hypotonia (low muscle tone), which can impede their physical development. If left untreated, lead to issues such as poor posture later in life. Physical therapy can help them build muscle mass and strength.
Moreover, it teaches them proper movement patterns that will make it easier for them to get around daily.
- Occupational Therapy:
This therapy helps children learn the abilities they’ll need to be as self-sufficient as possible in the future. Learning how to pick up and put down objects, along with how to turn knobs, feed oneself, and dress oneself are all examples of this.
- Speech Therapy:
The small lips and somewhat swollen tongues of children with Down syndrome might make it difficult for them to talk properly. In children with hypotonia, these issues might be exacerbated by a lack of muscular tone in the face.
Hearing impairment might also hinder speech development.
Speech therapy can help a kid with Down syndrome overcome these difficulties and speak more successfully.
Many of the health issues that affect someone with Down syndrome can be treated with medicine. Typically the same medication that would be prescribed to someone without Down syndrome.
Approximately 10% of those with the illness are either born with a thyroid disorder or get one later in life.
The most prevalent is Hypothyroidism, a condition in which the thyroid gland fails to generate enough of the hormone thyroxin.
Most hypothyroidism sufferers take a synthetic form of the hormone (levothyroxine) by mouth to control their condition.
Proper medication management includes keeping track of all prescribed and over-the-counter medications. Furthermore, the dosages and frequency with which they should be taken. You can get your free prescription delivery and manage the medications.
How to Live With Down Syndrome?
In recent decades, the lifespan of individuals with Down syndrome has increased considerably.
Today, the typical life expectancy for individuals with Down syndrome is between 50-60 years.
If you are raising a kid with Down syndrome, you will need a close relationship with medical specialists who understand the unique problems associated with the condition.
People with Down syndrome are living longer, more fulfilling lives than ever before. Though they frequently encounter a unique set of problems, they are capable of overcoming them and thriving.
For the survival of people with Down syndrome and their families, it is crucial to have a strong support network of knowledgeable professionals and compassionate family and friends.