Down Syndrome:

  • Genetic disease
  • Condition “in which extra genetic material causes delays in the way a child develops” ("KidsHealth")
  • Affects individual both mentally and physically
  • Affects 1 in every 800 babies in the USA

The medical problems and physical features of kids who suffer from Down Syndrome vary widely from child to child.

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Down Syndrome cannot be prevented, but it can be detected before the child is born

Common physical signs of the disorder include a small head, short neck, flattened face, up-slanted eyes, low-set ears, enlarged tongue and lips, sloping underchin, poor muscle tone, heart or kidney malformations, and abnormal dermal ridge patterns on the palms of the hands and soles of the feet.
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Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.

Intellectual disability occurs in all persons with Down syndrome and usually ranges from mild to moderate. Congenital heart disease is found in about 40 percent of people with Down syndrome.

There is no specific treatment for Down syndrome.

Down syndrome is a chromosomal mutation.
There are three types of Down syndrome.
  • The most common one is trisomy 21
    • All of an individual’s cells have three, instead of two, copies of chromosomes 21
  • Mosaic Down syndrome
    • Rare form of the disorder
    • Only some of an individual’s cells contain a third copy of the chromosome
    • Certain aspects of the disorder are not as severe as the one in trisomy 21
  • Translocation Down syndrome
    • occurs when the extra chromosome in the 21 pair “breaks off and attaches itself to another chromosome”
    • Is the only form that can be inherited
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      http://click4biology.info/c4b/4/gene4.2.htm

How does trisomy 21 occur?
  • The extra chromosome is a result of random, abnormal events in meiotic division of gametes(cell division) that “occur during embryonic development or during the development of egg or sperm cells” ("Down syndrome."Encyclopædia Britannica)
  • The meiotic division of gametes is where the spindle fibers do not attach to the centromere (middle section of the chromosome) during metaphase I or II
  • Presence of the extra chromosome in cells causes the signs and symptoms of Down Syndrome

Benefits of Down Syndrome:
  • Rapid advances in clinical treatment and greater medical attention to people with Down syndrome during the 20th century have increased the life expectancy of these individuals
  • Physical therapy has been created and it helps the infant build up muscle tone and coordination, and later helps the baby learn to roll over, sit up and talk.
  • Support groups have been created.
  • Special summer camps for kids with Down syndrome are available.
  • Since many adults with Down syndrome now live into their 50s, 60s and beyond, this new longevity needs to be incorporated into lifetime planning when a child is born
    • Individuals with special need typically need their parents to survive
    • If family fails to make provisions for future care for the Down syndrome individual (supervision and security), then decisions will be made by government agencies, the state and the courts
  • Many people with Down syndrome have these strengths:
    • Friendliness
    • Visual attentiveness
    • Kindness
    • Generosity
    • Ability to get along with others
  • Siblings may become more sensitive to others and less self-centered than they otherwise would have been.
    • Studies of families of children with Down syndromes have found that the siblings tend to be more mature than other kids their age, more accepting of differences and more understanding of the difficulties others may be having -- in general, more empathic.

Limitations of Down Syndrome:
  • Individuals with Down syndrome may have several complications such as:
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    • Airway blockage during sleep
    • Compression injury of thecord

    • Eye problems
    • Frequent ear infections and increased risk of other infections
    • Heart problem
    • Gastrointestinal blockage
    • Weakness of the back bones at the top of the neck
  • Individuals with Down syndrome may have learning difficultioes such as:
    • Difficulty translating knowledge from the brain to the spoken word.
    • Ability to pick out words but trouble reading them aloud.
    • Limited fine motor skills that hamper ability to write words, although able to type them into a computer.
    • Ability to comprehend many words but difficulty remembering and then vocalizing them.
    • Difficulty learning to read.
  • Individuals with Down syndrome may have social challenges such as:
    • Kids with Down syndrome can feel socially isolated due to their differences.
    • Most are socially immature and find it difficult to keep up with other children their age physically, emotionally and cognitively.
    • Relationships with kids who don't have Down syndrome are often lopsided, not equal, as the kids with Down syndrome want more from the friendships than the other kids do. Meeting other kids with Down syndrome who are at their level of the spectrum may enable equal friendships.
  • Individuals in the more advanced half of the spectrum are aware of their differences and it may cause insecurity.
  • Individuals with Down syndrome might affect their families since:
    • Everything is slower with a child with Down syndrome. More time and energy are spent on that child's needs, which means that parents have less time for others.
    • Feeling "different" when out in the world can make families unwill to do things other families do. Some families resent stares.
    • In some families, siblings resent the fact that the child with Down syndrome gets more attention.
    • Some siblings are teased about their "retarded" sibling

Economical impact of Down syndrome:
  • Direct Medical Costs:
    • inpatient care
    • outpatient care
    • pharmaceuticals
    • X-rays appliances
    • long-term care
    • laboratory tests
      • The serum screen tests cost about $300 to $400 and the chromosome analysis costs about $1000.
      • Costs for chorionic villus sampling, amniocentesis and ultrasounds vary depending upon the physician and the hospital
      • Most health insurance companies pay 80% or more of the cost of these tests. Some plans pay all of the cost, while others won't pay any portion.

*A survey held in Australia showed that the mean annual cost was $4209 Australian dollars ($4287 US dollars) for direct health care including hospital, medical, pharmaceutical, respite and therapy. However, costs decreased as the patients got older.The decline in costs was a result of decreasing use of hospital, medical, and therapy costs with age.
  • Direct Non-medical Costs:
    • developmental services
    • special education
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http://www.epa.gov/oppt/coi/pubs/iii_8.pdf
"Direct costs of medical, developmental, and special education services and the indirect costs of lost work and household productivity have come to an estimated lifetime of $1.8 million.Some estimates have found there to be 12 to 13 times greater medical costs from 0 to 4 years in T21 versus those without"("Down Syndrome-Associated Periodontitis").

Social impact of Down syndrome:
  • Social development includes:
    • social interactive skills with children and adults
      • built on throughout life to enhance their social inclusion and quality of life
    • social understanding and empathy
    • friendships
      • the opportunity to establish friendships may be affected by social independence and by speech and language and cognitive delay
      • parents and teachers need to think about ways of increasing the friendship opportunities of children during primary school and teenage years.
    • play and leisure skills
      • the importance of friendships with both typically developing peers and peers with similar disabilities is stressed, as is the need to develop play, leisure and independence skills
    • personal and social independence
    • socially appropriate behavior.
      • most children and teenagers with Down syndrome have age-appropriate social behavior, but some children do develop difficult behaviors which cause family stress and affect social and educational inclusion

Social development begins from the earliest days of babies' lives and is strongly influenced by their experiences with their parents and caregivers. Development is a dynamic and interactive process in which the behaviors of children and parents influence each other, and the children's ongoing experiences influence their development in addition to their biological makeup.
  • Temperament and personality.
    • Some children are anxious in temperament, others placid and calm.
    • Some children are outgoing and sociable, others are shy and find it less easy to make friends.
    • Research studies indicate that the range of temperamental and personality characteristics among children with Down syndrome is the same as the range observed in typically developing children.
  • Language and cognitive abilities Children's social development is influenced by their understanding of the world around them and the behavior of others.
    • children with delayed cognitive (mental) development are likely to have more difficulty in becoming socially competent and in controlling or self-regulating their behavior.
    • Children's rate of progress with language development will also influence all aspects of their social development
  • Family environments
    • All children are influenced by their experiences within their families and the relationships within families
    • The personalities and the interpersonal communication within families varies a lot
    • Children need to feel loved, wanted and emotionally secure as well as having their basic needs for warmth, food and care
    • Some families experience more difficulties than others in establishing a supportive emotional climate as well as good communication between members of the family
    • Some families have many more social disadvantages than others, such as unemployment, one parent coping alone, poor housing, or poverty.
    • Parents who are disadvantaged in any of these ways will find parenting more difficult and their children will tend to be more at risk for developmental difficulties
  • Expectations and management
    • Bringing up children is a difficult task and the progress of all children is influenced by the expectations in the family and by parents' management skills.
    • All children respond to the social feedback that they receive about themselves, their behavior and the way in which they are expected to behave.
    • When a child has a disability, it is often much more difficult for parents to know what expectations and demands for good behavior are appropriate.
    • Teachers and other carers also need to be encouraged to expect and reward good behaviour.
    • In preschool and school, children with Down syndrome should be expected to behave in socially age-appropriate ways and to conform to the school routines.
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      http://www.down-syndrome.org/information/language/overview/
    • Teachers and other carers also need to be encouraged to expect and reward good behaviour. In preschool and school, children with Down syndrome should be expected to behave in socially age-appropriate ways and to conform to the school routines.
    • However, children with Down syndrome can be quite challenging, often in naughty ways, as they often see how far they can push the boundaries in a new situation
  • Speech and language skills are an area of particular difficulty for most children and adolescents with Down syndrome
    • It is critically important for social and emotional development and for the development of cognitive or mental abilities
    • Talking enables children to relate to others
Bibliography:
Table III.8-1: Annual Per-Capita Medical Costs of Down syndrome by Age Group (1996$)
Condition Age 0-1 Age 2-4 Age 5-17 Age 18+
Down syndrome $27,265 $5,577 $2,231 $7,529