Down Syndrome Types New Finding Complications Life and Support
According to the CDC around 6,000 babies born in the United States have Down syndrome. And The National Down Syndrome Society (NDSS) also says around 1 in every 700 births occurs with this condition. Further, this genetic disorder remains the most common chromosomal diagnosed in the United States. Down syndrome types.
This week there was a new finding. Senescent cells, connected with diseases of aging could be involved in the cause of Down syndrome. In short, there has been no known reason for why the chromosomes don’t divide like they should.
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What is Down Syndrome?
Down syndrome (aka Trisomy 21 or Downs syndrome) is a condition a baby has when born with an extra chromosome. Your baby is usually born with 46 chromosomes. The medical term for having this extra copy is “trisomy”.
The infant who has Down syndrome can be born at the average size. But its development will be slower compared to a child without the condition. As a result, this can cause both mental as well as physical challenges.
Although, people with Down syndrome can act and look alike, each individual can have different abilities. Moreover, Down syndrome usually presents with some form of developmental disability. However, it’s often mild to moderate. And they are slower in speaking versus other children.
When a baby with Down syndrome is born there are typically certain characteristic signs:
- Flattened face, especially across bridge of the nose
- Small head and ears with atypical shape
- Eyes are almond shape and slant up
- Tongue that tends to stick out of the mouth
- Short neck
- Muscle tone is poor or loose joints
- Small hands and feet
- A single line across the palm of the hand (palmar crease)
- Small pinky fingers that sometimes curve toward the thumb
- Height is shorter than other children or adults
Mental and Physical Challenges
In other words, having mental and social development delays could indicate that the child may have:
- Impulsive behavior
- Poor judgment
- Short span of attention
- Slow learning skills
Down Syndrome Complications
Further, there could be medical complications such as:
- Congenital heart defects
- Hearing loss
- Vision problems
- Hip issues, like dislocations
- Chronic constipation
- Sleep apnea (breathing is interrupted)
- Teeth grow in late (chewing problems)
- Alzheimer’s disease later in life
What Causes Down Syndrome?
Typically, you know your parents have passed their genes on to you. These arrived to you in chromosomes. When a baby’s cells develop, every cell supposedly gets 23 pairs of the chromosomes. In conclusion, a total of 46.
Half of your chromosomes come from your mother. The other half are from your father. However, with Down Syndrome one of the chromosomes doesn’t split right.
So, the baby gets three copies, or in other words an extra partial copy of chromosomes 21, versus two. And because of this you know problems arise as the brain and physical features develop.
It was described as people trying to fit into a crowded elevator. The additional cell pushes in, and the other cells try to accommodate by folding in and squishing together. Thus, this extra cell causes havoc.
3 Types of Down Syndrome
There are three types. The physical features and behaviors are so similar it is difficult to tell them apart without looking at the chromosomes.
Trisomy 21 (Nondisjunction)
Down syndrome typically happens because of an error in cell division known as “nondisjunction.” Nondisjunction occurs in an embryo having three copies of chromosome 21 instead of the two it is supposed to have. Before or at conception, a pair of 21st chromosomes in either the sperm or the egg does not split.
The extra chromosome during the embryo development copies in every cell of the body. Trisomy 21 type of Down syndrome, accounts for about 95% of cases. Thus, the most common type of Down syndrome.
Mosaicism (aka mosaic Down syndrome) happens when the child is born with an extra chromosome in some however not all of their cells. In other words, some containing the typical 46 chromosomes, and some contain an extra. As a result, cells with 47 chromosomes include an extra chromosome 21.
This type is a pretty rare form of Down syndrome of the three. It accounts for just around 1% of total cases of Down syndrome. Those with mosaicism Down syndrome seem to exhibit fewer symptoms compared to children with trisomy 21. But this is difficult to generalize because of the wide range of abilities individuals with Down syndrome have.
The translocation form of Down syndrome accounts for about 4%, the children have only an extra part of chromosome 21. There are the 46 in total. But one of the chromosomes contains an additional piece of chromosome 21 attached. Thus, resulting with the Down syndrome characteristics.
Maternal Age a Cause
It is still unknown what the cause of this extra full or partial chromosome really is. The only factor is maternal age. Most importantly, this has been connected to a higher risk of having a baby with Down syndrome either nondisjunction or mosaicism.
On the other hand, there are higher birth rates in younger women. This accounts for about 80% of children with Down syndrome who have mothers less than 35 years of age.
With the translocation type the mother’s age doesn’t seem to play a factor. The cases are said to be sporadic or chance events. But, as in about one third of cases, one parent carries a translocated chromosome.
Down Syndrome Screening for Your Baby
There are now test you can take during your pregnancy to screen your baby for Down syndrome. As the mother you won’t have any symptoms that the baby you are carrying has this condition.
During your pregnancy in the U.S. Down syndrome screening is offered as prenatal care. That is to say, if you the mother are over age 35 or your baby’s father is over 40. Furthermore, if there’s any family history you may consider an evaluation.
At this point an ultrasound and blood test can be done to check for Down syndrome in your fetus. These tests have a higher false positive than those done later in pregnancy. Should your results come back abnormal, your doctor could follow up after your 15th week of pregnancy with an amniocentesis.
An ultrasound along with quadruple marker screen (QMS) test can diagnose Down syndrome or other brain and spinal cord defects. Further, between 15 and 20 weeks of pregnancy is the time this test can be done.
Most importantly, you are considered high risk for birth defects should any of these tests not be normal.
Treating Down Syndrome
Down syndrome has no cure. The children with Down syndrome usually meet age related milestones. But they can be slower at learning than other children. Above all, there is support as well as educational programs to help those with the condition and their families.
The programs that are available begin at infancy with interventions. Federal law requires that states have therapy programs for families who qualify. Most importantly, these programs provide special education teachers and therapist to assist your child with learning.
- Sensory skills
- Social skills
- Self-help skills
- Motor skills
- Language and cognitive abilities
In the life of a child with Down syndrome school plays an essential part. This doesn’t matter where their intellectual abilities are. Both public and private schools support those with Down syndrome providing integrated classrooms and education opportunities. To sum up, in school is where the value of socializing aids students with Down syndrome builds important life skills.
Living With Down Syndrome
In recent decades the life expectancy has greatly improved for those with Down syndrome. A baby born with Down syndrome in 1960 usually didn’t see their 10th birthday. For instance, the current lifespan for someone with Down syndrome has an average of 50 to 60 years.
Many opportunities now exist to help overcome the challenges associated with this condition. There have been recent medical advances. To sum up, cultural and institutional support for those with Down syndrome has also improved.
If your child has Down syndrome you should have a close relationship with medical professionals who understand this challenging condition. As well as larger concerns (heart defects/leukemia) those having Down syndrome should be guarded from common infections like a cold. Further, it is crucial to have a strong support network of experienced professionals along with family and friends who understand.
Though there are still unique challenges people with Down syndrome are living longer and richer lives. In addition, they can overcome those obstacles and thrive. Some have even become celebrities.
Wrapping it up
Down syndrome is a genetic disorder that occurs during pregnancy. There are three types that are difficult to tell apart. But they all have the chromosome in common.
Currently, a person with Down syndrome can live a fulfilling live. There is a lot of support and new scientific findings with the Senescent cells. Certainly, more opportunities exist today with the advances.
Mary is the founder of All About Our Skin. Former esthetician and CPC. Enjoys researching skincare and has been studying our skin for the past fifteen years.