What you should know about Down syndrome

Having a child with Down syndrome is not a life sentence. With early and proper intervention, plus arming yourself with knowledge, a child with this disorder can live a normal and happy life.

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In the Philippines, a child with Down syndrome is born every four hours. But having this condition isn’t a life sentence for both the child with Down syndrome and his parent.

Definition

The condition is caused by the production of extra genetic material (47 chromosomes instead of the normal 46). Down syndrome causes physical and mental delays and is a life-long condition. In some cases, it also causes health issues.

The severity of the condition varies but if intervention is done early, the child can live a happy life.

Signs and Symptoms

Physical traits: face

  • Small head
  • Upward slanting eyes that may also have specks or spots on the iris
  • The appearance of a deflated nasal bridge
  • Small ears that are usually set low on the head
  • Unusual shape of mouth (palate may curve downward) and tongue (may slightly protrude)
  • Teeth are crooked or have an irregular shape. A child with Down syndrome may experience delay in tooth formation that doesn’t usually come out in the same order as other children’s.

Physical traits: body

  • Short height. A child with down syndrome experiences a slower growth rate. He also will grow up shorter than the average adult.
  • Hypotonia, also know as floppy baby syndrome, is when muscle tone in the body is low. This results in, for example, the appearance of a tummy sticking out.
  • Wide, short neck that may also have excess skin and fat.
  • Limbs that are short and stocky.
  • Hands that are broad and have one crease on the palm
  • Flexibility

Infants that have Down syndrome appear to be average sized. But later on, their slow physical growth will become apparent. Also, because Down syndrome causes delayed development, developmental milestones will not appear at the same rate as it would for kids who don’t have the condition.

Health issues

Unfortunately, Down syndrome causes the following problems:

  • Mental disability – most children with down syndrome will experience cognitive disability that is mild to moderate
  • Heart defects
  • Celiac disease
  • Hypothyroidism
  • Eye conditions
  • Respiratory infections
  • Hearing problems
  • Dental problems
  • Depression
  • Behavior associated with autism or ADHD

Down Syndrome Causes

It’s unclear why Down syndrome occurs. It has been determined, however, that abnormal cell division is what brings about the condition.

Continue reading to learn about risk factors and complications

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Risk Factors of Down syndrome

Because Down syndrome is a genetic disorder, those who family members who have following types of Down syndrome are at high-risk:

Trisomy 21

This is the most common type. It’s when a child has three copies of chromosome 21 instead of the standard two.

  • Women aged 35 and above are more likely to have a child with genetic disorders. The older a woman gets, the higher the chances are
  • A woman who already has a child with down syndrome

Mosaicism

This rare type of Down syndrome causes an abnormal cell division that occurs post fertilization.

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Translocation

This is the type of down syndrome that is randomly passed through families. Probable carriers are those with relatives and/or children with the condition.

Complications related to Down syndrome

  • Congenital heart defects
  • Dementia
  • Infectious diseases
  • Lukemia
  • Obesity
  • Sleep apnea

Continue reading to learn about diagnosing, treating and preventing Down syndrome

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Tests and Diagnosis for Down syndrome

The two types of tests during pregnancy are:

  • Screening. This only determines the probability of the fetus having the condition. If the test returns negative results, it’s not an assurance that the fetus will be free of down syndrome. For more definitive results, the doctor may request for diagnostic screening.
  • Diagnostic. This determines whether or not a baby has the condition.

Tests after birth

As mentioned earlier, physical symptoms of down syndrome will not immediately manifest. A doctor might order taking a blood sample for chromosomal analysis.

Treatments and Drugs

Early intervention will help a child with Down syndrome through stimulation to improve cognitive, motor and sensory skills.

Because Down syndrome causes many health complications, it will be best to have regular check ups with several types of doctors – cardiologists, gastroenterologists, developmental pediatricians, neurologists, endocrinologists, ophthalmologists – to ensure that early signs of health problems are spotted and treated accordingly.

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Other specialists you will likely work with are audiologists, physical therapists, speech therapists and occupational therapists.

Lifestyle and Home Remedies

Support and encourage your child until he has mastery of some skills such as walking or eating by himself. As he ages, encourage him to make friends. Give him chores he can do at home. This will help teach him independence and allow him to experience self fulfillment.

Look for other families that have children with Down syndrome or search for online groups or communities. This ensures that you and your family receive emotional support, too.

Prevention

Down syndrome cannot be prevented. However, screenings tests can be done to determine the probability of a child having the condition. This way, parents are able to prepare.

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