Down Syndrome

First, Down Syndrome includes a wide range of disability, so it is impossible to include all information here. But this will give some of the basic information people should know about Down Syndrome.

"Down syndrome" (term used in the USA), or "Down's syndrome" (the term used primarily in the United Kingdom) was named after John Langdon Down, a British physician who described the syndrome in 1866. Known medically as "trisomy 21" (named by by Jérôme Lejeune in 1959), Down Syndrome is a chromosomal condition caused all or part of an extra 21st chromosome.

During fertilization, each egg receives chromosomes from the father and mother. Chromosomes control human's physical characteristics and a variety of "normal findings" in each person. These characteristics are present when a fetus is growing in the womb. Down Syndrome affects one per 800 to one per 1000 births, or about 1 out of 733 births in the USA. It is most common if the pregnant woman is over 40 years old.

Extra parts of the 21st chromosome means the chromosomal make up of some fetuses get messed up. The extra chromosomes (in part or all) then changes the way the fetus develops, and it changes the normally expected facial and physical features one sees in "normal" babies. As well, the chromosomal differences affects cognitive aspects as well as normal growth during childhood.

Physical Differences

SOME of the particular set of facial characteristics and physical characteristics can also be seen in persons with a normal set of chromosomes. But, usually, Down Syndrome babies and children have include:

• a flat, high forehead
• microgenia (an abnormally small chin),
• an unusually round face,
• macroglossia (a protruding or an oversized, thick tongue)
• an almond shape to the eyes (from an epicanthic fold of the eyelid)
• upslanting palpebral fissures (the separation between the upper and lower eyelids)
• shorter limbs
• distinctive bowed legs
• a single transverse palmar crease (a single instead of a double crease across one or both palms)
• poor muscle tone
• and a larger than normal space between the big and second toes

Other characteristics that often are associated with Down Syndrome include (listed from highest percentage to lowest percentage of occurance):

• mental retardation 100%
• stunted growth 100%
• atypical fingerprints 90%
• hypotonia (weak, lax muscles) 80%
• flexible ligaments (they have too much "give" in the ligaments) 80%
• separation of the abdominal muscles 80%
• brachycephaly 75%
• smaller genitalia 75%
• eyelid crease 75%
• shortened extremities 70%
• oval palate 69%
• small teeth, and smaller mouth and jaws 60%
• low-set and rounded ear 60%
• flattened nose 60%
• clinodactyly 52%
• umbilical hernia 51%
• short neck 50%
• shortened hands 50%
• congenital heart disease 45%
• single transverse palmar crease 45%
• Macroglossia (larger tongue) 43%
• epicanthal fold 42%
• Strabismus (an eye disorder) 40%
• Brushfield spots (iris) 35%

In addition, adults with Down Syndrome will often also have:

• short stature and bowed legs
• obesity with rounded shape

How is Down Syndrome Diagnosed?

Within 1 minute and again at 5 minutes after birth, every baby is assessed using an APGAR Score which also includes observation (looking at) and inspecting the newborn. *SOME* characteristics are more easily noticeable at birth that can indicate Down Syndrome. If characteristics are seen immediately, further testing can confirm a physician's suspicions.

OTHER characteristics are observable over time. For example, every baby born in developed countries are assessed at each doctor's appointment. Part of the measurements taken (besides other assessments) are height, weight, and head circumference. In Down Syndrome, each of these 3 measurements are smaller in children with DS than in typical babies / children of the same age. "Developmental Milestones" are also checked and recorded. Some of these milestones include, by age appropriate skills, holding up one's head, following an object with the eyes, sitting up, crawling, etc.

As a child grows, additional observations of posture, physical growth and features/characteristics, developmental milestones, social development, speech, etc. are continuously evaluated.

Intellectual Characteristics

Verbal and Intellectual growth are also assessed-- by parents, physicians, nurses, etc. Down Syndrome children will show slower development in these areas. Most SD persons have an intellectual disability in the mild (IQ 50-70) to moderate (IQ 35-50) range. However, actual "IQ Testing" is typically first done after a child enters school or for school placement.

Dr. Weihs described the mental qualities of people with Down syndrome to be "unsexual," "playful," "affectionate," "mischievous" and "imitative". Imitative means that from infancy through adulthood, persons affected with DS can imitate others, matching what they see others do. This quality can help DS children be "teachable", but the SD person may be severely lacking in intellectual / cognitive judgment and reasoning. For example, the "affectionate" nature of persons with SD may cause problems if the person cannot judge who is safe and who is not safe. The person with SD may be taken advantage of by others.

Most persons with Down Syndrome cannot live as independently as other people of the same age. Some, however, can live in group homes or can receive guidance so they can live more independently.

Are all persons with Down Syndrome Alike (the same)?

No! No physician or layperson can classify all Down Syndrome as exactly alike, just as no one without a "trisomy 21" problem could be judged as all alike.

Persons with Down Syndrome are unique individuals. Although they may be slower cognitively, but the degree of impairment varies. Their skill levels vary; their ability to learn educational or vocational tasks also varies.

Historical "treatment" of Down Syndrome Persons

"Treatment" in this discussion means how society and families reacted to hearing a woman had a Down Syndrome baby. Since Down Syndrome is a chromosomal disordering, there has been no "medical treatment" that can cure or fix the cognitive and physical characteristics of Down Syndrome.

Historically, society didn't want to be around persons with Down Syndrome. First, it may have created difficulties or hardships to keep SD children at home and care for their ongoing needs and ongoing need for supervision. Even in the 1800s and before, families relied on every family member to contribute to daily chores on farms or in other occupations. As well, children were often expected to work by age 8-9 years. So, having a disabled child would have been a financial "burden" to families in the 1800s and before.

As well, the end of the 1800s were marked by increased "medical care" in institutions where the ill, disabled, and "insane" were placed, often behind locked doors on grounds far from the centers of towns or cities. Even persons with a cognitive impairment caused by syphilis, brain hemorrhage, stroke, TIAs, or meningitis were often warehoused in institutions simply because those conditions had not yet been identified or treatment was impossible (at that time). The cognitive changes that come from many of these conditions and infections or even assaults to the brain (such as from falling off a roof or from a horse) could cause personality changes, inappropriate behavior, seductiveness, poor judgment, and "needy" types of behavior like clingy hugging, etc. So, Down Syndrome children and adults were lumped in with others suffering conditions that also affected cognitive and social skills. Institutions kept persons with SD out of trouble-- but also, and more importantly, out of the public eye. Few people went to the institutions to visit, even family.

Then, as now, parents would have experienced negative emotions with their anticipated baby was "different" than the expected norms. Some parents felt guilty or embarrassed about having an SD child, especially if the family was more visible in society. Often, parents felt blamed, as if the parents or their families were "defective". Some religious upbringing may have conveyed that the parents were ungodly and this child was their punishment.

Changes in the "treatment" of persons with Down Syndrome

Institutional confinement and supervision continued through the 1980s! Some persons with Down Syndrome lived their entire lives in institutions, and after being around persons with severe mental illness or severe inappropriate behavior, the SD persons often mimicked those behaviors. The result was that very few could ever be released back into society. After living their entire lives in institutions, that is also where they died, often having never known any "care" or attention except what overworked nurses could provide.

The 1980s marked many changes in how the USA delivered health care. Advocates protested the warehousing of the mentally ill, even the most severe schizophrenic patients. In turn, advocates believed if society gave persons with Down Syndrome a chance, they could live outside of institutions with supervision. Institutions had already, for decades, used persons with Down Syndrome as free laborers--persons doing tasks without being paid for the work. SD persons did menial work, like sweeping or mopping floors, pushing hand mowers to cut the grass, or making baskets and crafts to sell. So advocates knew that persons with Down Syndrome were teachable-- they could learn work skills if placed in the right circumstances and had supervision.

Additionally, States wanted to do away with institutions. The main reason was that most were built in the mid-to-late 1800s and were still in use in 1980! The buildings were outdated, had very old wiring and lighting, and the huge buildings used a lot of heat in cold climates (such as in the NE and Northern Midwestern States). States could not afford to remodel or retrofit these buildings. The cost to tear down and build new institutions would cost more than the reimbursements given by State Medicaid, which typically paid for residential care. So advocacy to de-institutionalize and mainstream Down Syndrome persons came at a time when economics would force many of these places to close.

As well, State's Health Departments, which oversaw the conditions in Institutions, could no longer certify that patients were safe in sub-standard buildings.

So, along with mentally ill patients, persons with Down Syndrome were "mainstreamed". Group Homes were often started solely to provide services as a transitional placement to help persons learn to live in society while being taught, guided, and supervised. Shelters were established to teach these adults, and provide work environments for their labors. At the same time, parents who just gave birth to a Down Syndrome baby were given services that allowed the parents to keep their child at home.

But, while much better than institutions, life for many persons with Down Syndrome has not shown much improvement since the 1980s when mainstream was hailed as the best environment. Services are still not complete and much more needs done to integrate persons with Down Syndrome into society in a much more meaningful way, outside of group homes and shelters.

The need for education!

One of the biggest needs that persons with Down Syndrome have is that society would become more educated and understand what Down Syndrome means. For example, "retarded" has long been used as a negative term to describe persons with Down Syndrome. Not only is this term highly offensive, it is also very inaccurate! Every Down Syndrome person is unique, but using the word "retarded" tries to label all persons as being somehow "defective". The only "defect" is that chromosomes got scrambled, but the persons with Down Syndrome are not "defective".

Also, too many young persons now use "retarded" (misspelled as "retarted") to describe anyone who or anything that is somehow "different". Too many young persons use the words "dumb" (misspelled as "dum") or "stupid" (misspelled as "stuped") to describe anything that makes the young person uncomfortable, uneasy, or simply things they don't understand (or don't want to take the time to learn about and understand). School kids now use "retarded" or its misspelling to harass, demean, or bully other students who seemingly don't measure up to someone's idea of "normal". Yet, students who use these words forget that since everyone is "unique", none of us truly fit the definition of "normal".

Used to bully and for name calling, students forget that ALL of us lack knowledge about some subject; none of us are 100% knowledgeable. NONE of us are always quick minded. When awakening in the morning and half-asleep, when some of us put on our clothing inside-out it certainly doesn't indicate being "stupid". When any one of us thinks slower or thinks things over before speaking, we're definitely not "dumb".

Students need educated so that they can understand what adjectives really mean. As well, they need to know how much name-calling and derogatory comments can hurt other people!

When students comment, "He's so retarded" or even "That dog is so retarded", they should think about what they are really trying to describe. Another but less harmful adjective is "silly" as in "That dog is so silly when he chases his tail." When students are tempted to use the word "retarded" as a descriptive adjective, they should stop and try to think of 5 other words that could describe the same behavior. As examples:

1. John is so shy that he makes me uncomfortable.

2. I'm glad Mary asks more questions (is more inquiring)in class because it helps all of us understand more about this subject.

3. Nancy hurt me when she called me names, but she isn't "retarded" or "dumb" or "stupid", though she said mean things.

4. This television show is not interesting to me and doesn't hold my attention, but someone else might like the show.

5. I really dislike math but just because I dislike it, math is not dumb or stupid.

Offensiveness

Although at one time it was acceptable to say "Mentally Retarded", it is not an appropriate term and is offensive.

Well this is only a start since I am not good at actuarial matters, but I have a daughter with a different form of trisomy and so I was curious myself.

The NIH reports that trisomy 13, or Patau syndrome,

1) occurs in one in 10,000 newborns

2) more than 80% of these children die in the first year*

*the Lucille Packard children's hospital of Stanford reports:

"Unfortunately, 90 percent of babies born with trisomy 18 or 13 die by age 1. It is important to note that 5 to 10 percent of babies with trisomy 18 or 13 do survive the first year of life. Therefore, these disorders are not universally fatal and, in the absence of any immediate life-threatening problems, accurate predictions of life expectancy are difficult to make. There are a few reports of babies with trisomy 18 or 13 surviving to their teens, however, this is unusual." [Emphasis mine]

There is a list of symptoms and complications but no "life expectancy" computations are listed so some assumptions are required. On the other hand, if the incidence and population were known, the life expectancy could be computed but since we have neither, accuracy is limited.

Wolfram Alpha reports (2008 estimate) that 4.29 million children are born each year in the US. An incidence of one in 10,000 for this figure, means 429 per annum. A year later, perhaps 21-86 remain.

To get to some figure, some assumptions are needed. If you make both optimistic and pessimistic ones they may cancel out. I haven't got the stamina to proceed but if you must, you could consider a 10% first year survival rate (optimist) and then than none survive past age 19 (pessimist).

You could fit a bezier curve to the life expectancy or do a straight-line estimate between the (also estimated) data points.

Keep in mind that the one in 10,000 incidence is a gross estimate. Nothing in medicine is so precise and incidence rates are useless. You either have trisomy or you don't. If you are not merely curious, but you have a child with trisomy, seek out parents who also have (had) a child with trisomy. They can help you more than anyone else. I've been there. Best Wishes.

There are three different kinds of Down syndrome: Translocation, Trisomy 21, and Mosaic.

1. Translation: occurs when a piece of chromosome breaks off and attaches to another.
2. Trisomy 21 (the most common kind): caused by meiotic disjunction, or in other words a gamete produces an extra of Chromosome 21.
3. Mosaic is similar to Trisomy 21 in that it still has the extra chromosome in the cell, but also some of the other cells in the body have a normal amount of chromosomes.

There is help for children with Down syndrome. Treatment with amino acids from an early age could help children with Down syndrome to improve their speech as well as their mental development, physical development and social behavior.

Those children who received amino acids from an early age usually go to schools alongside children who do not have Down syndrome. They develop well physically and many of them have unapparent features of a person who has Down syndrome.

Down syndrome is caused by an extra or part of an extra 21st chromosome while Turner syndrome is caused by an absence in one or part of the sex(X) chromosome.

Down syndrome can occur in both male and femalewhile Turner syndrome only occurs in female.

People with Down syndrome tend to have a lower than average cognitive ability.

Both Down syndrome and Turner syndrome are at higher risk for having medical conditions such as heart problems.

Depending on what source you are looking at respiratory problems may occur in people with Down syndrome. For what its worth last night I admitted a 27 year old to the hospital with Downs and asthma, so I have seen it in a Downs patient very recently, however one patient does not make something common. I am looking for this info myself.

According to a study by Hilton in New South Wales, only 5% of children with DS being hospitalized for respiratory problems actually had asthma, compared to 25% for other children. These results resonate with other studies as well, such as one by Forni GL, , Acutis MS, Strigini P. titled "Incidence of bronchial asthma in down syndrome". Asthma, which is the most common cause of childhood hospitalization, is very uncommon in those with DS comparatively.