Down Syndrome What You Need to Know

down syndrome 101 everything you need to know

Are you a visual kind of person?  Me as well.

Hither is a simplified version of What is Downwardly Syndrome in only one infinitesimal.

What is Downward Syndrome?


Down's syndrome is the proper noun given to a genetic aberration in which a person has a triplicate of the 21st chromosome.  Trisomy 21 is another proper noun for Down's syndrome.  Down Syndrome was first identified by the English Physician, John Langdon Down in 1866.

Downwardly Syndrome occurs when a person receives an actress chromosome at conception.  This happens in approximately i in 700 pregnancies in the United states of america.  Downward Syndrome is too the most common genetic anomaly known.

How Does Downwards Syndrome Happen?


People usually receive 23 chromosome pairs from their mom and 23 chromosome pairs from their dad.

Sometimes there is an error in jail cell division and when the chromosomes are doing their thing, i parent shares a bit likewise much genetic cloth and there yous go, baby, gets a trivial extra chromosomal slice or strand.  Nix can prevent this.  Down's syndrome is not as a result of the parent's lifestyle, drug use, diet, or any other factors that the parents can control.

Trisomy 21, the nigh common form of Down's syndrome, is completely random.  This anomaly can happen to anyone of whatsoever race, any age, any groundwork, and in whatever geographic location.

Trisomy 21, Downwards Syndrome, tin can happen for kickoff time moms, it tin happen to young moms, and it has a higher statistical chance of happening to older moms.

There are 3 types of Downward Syndrome:


  • Trisomy 21: All copies of the 21st chromosome are in triplicate (95% of cases)
  • Mosaic Down Syndrome:  Simply some of the person's 21st gear up of chromosomes are in triplicate and others are completely unaffected  These cases have a trend to showroom fewer of the physical characteristics of Down's syndrome and ofttimes it can be difficult to tell, at first glance, that they have Down syndrome. (i-two% of cases)
  • Translocation: Extra genetic material is fastened to the 21st chromosome but information technology may non be a full and separate chromosomal piece, it is kind of like a pocket-sized hitchiker. This blazon tin exist hereditary just is the only type that is.

Down Syndrome is Not a spectrum disorder, you either take extra genetic material on the 21st chromosome, or you do non.

The ABILITIES of those with Down's syndrome ARE on a wide spectrum and can exist profoundly improved with Early Intervention.

Children born with soft markers (physical characteristics) for Down Syndrome will have a blood test to confirm the actress genetic material.

Related Post:  My Baby has Down Syndrome, now what?


Congratulations, first of all, you are having a baby and that my friend, is crawly.  Downwardly Syndrome is not scary, there are so many opportunities right now and perceptions are changing.  The world is condign a ameliorate identify for families and individuals with Down's syndrome.

A few things that you should know.  Babies born with Downward Syndrome volition have a number of screens performed at birth, or shortly thereafter.  The life expectancy of someone built-in with Down Syndrome now is much the same as anyone else built-in. Often individuals with Trisomy 21, Down syndrome, will alive well past lx years ….or more.  Much is based on lifestyle choices and self care, like any of united states of america.

Children who take Downwards Syndrome are more likely to have heart issues (40-sixty%).  Some of these centre problems tin can lead to a need for surgery, the good news is, so many children born today thrive after their heart defects are medically repaired.

Children born with Down syndrome should be screened for Heart Defects, Hearing difficulties, Vision problems, and sometimes other tests as deemed necessary by a Pediatrician.

When a child has Downward Syndrome they are also at increased chance of infection due to a lowered immune system, this does not mean that you lot need to keep children with Down's syndrome in a bubble, but they do need to be monitored closely when they contract a virus or respiratory infection.

Having a child with Down's syndrome is a joy and children with Down syndrome tin can learn to do all the things that typical children do.

Children with Downward syndrome can learn to walk, talk, sign, read, write, and perform basic math skills.  Some children with Down Syndrome volition have the ability to become to college and live independently.

What about the centre?


Down syndrome is an bibelot that carries with it the increased adventure of heart defects.  The center defects commonly associated with Down syndrome are:

ASD- Atrial Septal Defect

"In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and dorsum to the lungs, in addition to the normal flow.

There are three types of Atrial Septal Defect; the most common is when in that location is a pigsty in the middle of the fundamental center wall. Holes in the lower part of the septum, chosen the primum defect (fractional atrioventricular septal defect), are oft associated with a problem of the mitral valve that often results in a leak. Less mutual are sinus venosus defects or holes in the tiptop of the septum. These are associated with an aberration of the right upper lung vein." -Congenital Middle Illness in Children with Down's syndrome. (north.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

VSD- Ventricular Septal Defect

"In this defect at that place is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher force per unit area in the left side of the center, this allows oxygenated blood to catamenia through the hole from the left to the right side of the heart, and dorsum to the lungs, in addition to the normal flow." Congenital Heart Disease in Children with Down Syndrome. (n.d.). Retrieved May xiii, 2017, from http://downsyndrome.nacd.org/heart_disease.php

PDA- Patent Ductus Artetiosis

"This defect is the constancy of a direct connection between the aorta and the lung (pulmonary) artery, which ordinarily closes shortly subsequently birth."Congenital Centre Disease in Children with Down Syndrome. (n.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

Tetralogy of Fallot

"This bibelot includes four dissimilar heart bug:

  • a hole between the top chambers and a hole between the bottom chambers
  • combined mitral and tricuspid valves (mutual atrioventricular valve)
  • narrowed pulmonary avenue (from heart to lungs) or the expanse under or above the valve, or all 3
  • thickening of the correct lesser sleeping accommodation (ventricle)"Congenital Heart Disease in Children with Down syndrome. (north.d.). Retrieved May 13, 2017, from http://downsyndrome.nacd.org/heart_disease.php

Are there other health bug?


Children born with Downwardly Syndrome do have a higher incidence of run a risk for other wellness issues that may non exist as common in the general public.  It does not mean that each kid born with Down's syndrome will experience all, or even whatever of these health problems, but there is a college incidence in the Downwards Syndrome population so they are monitored more closely. There is something nigh that actress genetic material that makes these children susceptible to health problems.  A few of these tin can be:

Hypothyroidism– a condition in which the thyroid is doing its job and producing enough of the thyroid hormone.  This can result in complications with weight gain, constipation, feeding bug and can manifest itself in other ways as well.  This is a treatable condition and is often tested for in infants with confirmed Trisomy 21.

Leukemia- Children born with Down Syndrome have a 10-fifteen% higher risk of developing the blood disorder, leukemia (white claret jail cell cancer).

Cervical Malformation– In approximately 10-20% of children with Down's syndrome there can be a slight malformation in the upper function of the spine which may not cause any bug unless surgery is needed or contact sports are engaged in.  Information technology is something that children should be checked for.

Hypotonia– This is the hallmark of Down syndrome.  1 of the first signs that a practitioner looks for at nascency is hypotonia, a fancy discussion for poor muscle tone.  At birth often children with Down syndrome have a "floppy" tone and volition exhibit a lack of definition. This means that the babies are fantastic snugglers but also contributes to the delays in gross and fine motor skills that are associated with Downwardly Syndrome.

It is important for parents to find a pediatrician who is very familiar with Down's syndrome, or find a children's hospital which has a Down's syndrome clinic so that the kid with this condition can receive the most astute care possible.  Some children with Down Syndrome have many health complications, other children have very few.

What Else Practice I Demand to Know?


There are many supports and sources of data from the national level to the state level, here are merely a few:

NDSS– National Down Syndrome Society

DSDN– Downward Syndrome Diagnosis Network

Global Down's syndrome Foundation

NADS– National Association for Down syndrome

Down Syndrome 101 Everything you need to know (but may have been afraid to ask)

You also will likely find a local chapter of organized families by doing a google search using your county, country, and "Downwards Syndrome group"

Related Post: 5 Lies About Down's syndrome

Want to hear from other mamas?  Download this gratis ebook of letters written to y'all from other mamas on this path when you lot sign upward below for the e-mail list.


"Hypothyroidism in Infants, Children, and Teens – Topic Overview."WebMD. WebMD, n.d. Web. 17 May 2017.
"What Weather condition or Disorders Are Commonly Associated with Down Syndrome?"National Institutes of Health. U.S. Department of Wellness and Human Services, n.d. Web. 17 May 2017.

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