DOWN SYNDROME SYMPTOMS AND MANAGEMENT.

WHAT IS DOWN SYNDROME?
Down syndrome the medical name for Mongolism, is congenital defect of mental and physical development. It is caused by an extra chromosome, in these case there are 47 instead of the normal 46 chromosomes. Usually it is caused by an extra number 21 chromosomes.

The disorder is associated with increasing age of the woman(mother). Here is the explanation; A mother of age between 35-39 has a one and half percent chance of having a mongoloid child; a woman over the age of 40 has 5 percent chance of having a mongol.

TYPES OF DOWN SYNDROME

Down syndrome is of different types, basically there are three types of Down syndrome; which include the following:

MOSAICISM

Mosaicism occurs when a child is born with an extra chromosome in some but not all of their cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.

TRANSLOCATION

In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.

TRISOMY 21

Trisomy 21 means there is an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome.

SYMPTOMS OF DOWN SYNDROME

The symptoms of Down Syndrome are both physical and intellectual.
The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives.

• Decreased or poor muscle tone 
•  Short attention span
• Short neck, with excess skin at the back of the neck
• Flattened facial profile and nose
• Small head, ears, and mouth  
• Slow learning
• Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye
• White spots on the colored part of the eye (called Brushfield spots)
• Wide, short hands with short fingers  
• Impulsive behavior
• A single, deep, crease across the palm of the hand
• A deep groove between the first and second toes 
• Delayed language and speech development 
• Cognitive impairment, problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate.
• Other notable symptoms is that, physical development in children with Down syndrome is often slower than development of children without Down syndrome.

For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Despite these delays, children with Down syndrome can learn to participate in physical exercise activities like other children.

 It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones.

 Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. 

Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.

There are complications that comes with this health disorder, these include;

• congenital heart defects
• hearing loss
• poor vision
• cataracts (clouded eyes)
• hip problems, such as dislocations
• leukemia
• chronic constipation
• sleep apnea (interrupted breathing during sleep)
• dementia (thought and memory problems)
• hypothyroidism (low thyroid function)
• obesity
• late tooth growth, causing problems with chewing
• Alzheimer’s, in later life
•  People with Down syndrome are also more prone to infection.
• They may struggle with respiratory infections, urinary tract infections, and skin infections

 SCREENING FOR DOWN SYNDROME DURING PREGNANCY

Screening for Down syndrome is offered as a routine part of prenatal care in the United States. If you are a woman over 35, your baby’s father is over 40, or there’s a family history of Down syndrome, you may want to get an evaluation.

FIRST TRIMESTER

An ultrasound evaluation and blood tests can look for Down syndrome in your fetus. These tests have a higher false-positive rate than tests done at later pregnancy stages. If results aren’t normal, your doctor may follow up with an amniocentesis after your 15th week of pregnancy.

SECOND TRIMESTER

An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks.

If any of these tests aren’t normal, you will be considered at high risk for birth defects.

ADDITIONAL PRENATAL TESTS

Your doctor may order additional tests to detect Down syndrome in your baby:

• Amniocentesis: Your doctor takes a sample of amniotic fluid to examine the number of chromosomes the baby has. The test is usually done after 15 weeks.
• Chorionic villus sampling (CVS): Your doctor will take cells from your placenta to analyze fetal chromosomes. This test is done during the ninth and 14th week of pregnancy. It can increase your risk of a miscarriage, but only by less than 1 percent.
• Percutaneous umbilical blood sampling (PUBS, or cordocentesis): Your doctor will take blood from the umbilical cord and examine it for chromosomal defects. It’s done after the 18th week of pregnancy. It has a higher risk of miscarriage, so it’s performed only if all other tests are uncertain.

Some women choose not to undergo these tests because of the risk of miscarriage. They would rather risk having a child with Down syndrome than losing the pregnancy.

TEST AT BIRTH

At birth, your doctor will:

• perform a physical examination of your baby
• order a blood test called a karyotype to confirm Down syndrome

FEATURES OF A MONGOLOID

Every child suffering fro down syndrome has the same physical appearance and similar behavior, which include; a flat round head, which is smaller than normal, small low-set ears, a flattened nose, a large tongue that protrudes from a small mouth, and a typically pattern of creases on the palm. The most common featured is mental retardation.

 TREATMENT FOR DOWN SYNDROME

There is no medical treatment that can cure down syndrome, however with specialized education, most affected children can learn to to take care of themselves and lead useful lives.

Available programs start with interventions in infancy. In these programs, special education teachers and therapists will help your child learn:

• sensory skills
• social skills
• self-help
• motor skills
• language and cognitive abilities

School is an important part of the life of a child with Down syndrome, regardless of intellectual ability. Public and private schools support people with Down syndrome and their families with integrated classrooms and special education opportunities. 

Schooling allows valuable socialization and helps students with Down syndrome build important life skills.

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Posted By Mr. TriGa — Friday, 6 May 2016 — Add Comment