DOWN’S SYN-DROME

Reilly FlodinDavid Kim

INHERITANCE Down’s syndrome is neither a dominant

or recessive genetic disease. It is also known as Trisomy 21, for a

specific reason. Down’s syndrome occurs due to the oc-

currence of a meiotic mishap. Although sole chance is a possibility, it

is the least likely.

CHROMOSOMAL ABNOR-MALITY DESCRIPTION Occurring about 95% of the time is meiotic nondis-

junction. Essentially, a gamete (either from the father or

mother) cell that carries an extra copy of chromo-some 21 will combine with a normal gamete from the other parent, which translates to it possessing 24 chromosomes.

The resulting gamete embryo will then have 47chromosomes as opposed to 46, with the extra chromosome being a detrimental copy of chromo-some 21.

The duplication of a segment on the chromosome is also possible, but very rare. It would result in the ex-pression of specific Down’s syndrome physical or mental attributes.

The extra chromosome 21 is shown here. http://www.treatgene.com/wp-content/uploads/2009/11/21_trisomy_-_Down_syndrome1.png

DOWN’S SYNDROME PREVA-LENCE IN THE POPULATION As of December 2009, the disease has

been found to occur in approximately 1 baby per 800 babies (.125%), or 5,400 babies per year in the United States.

From 1979 to 2003, the occurrence of Down’s syndrome annually has been recorded as increasing. - 31.1% increase- 9/10,000 live births 12/10,000 live births

Graph of the live birth prevalence for Down syndrome. blogs.downsed.org

CHANCES OF PASSING ON A common study in Down’s syndrome for in-

heritance has been that of the mother’s age. Studies have shown that as the mother

ages, her egg cells become less potent than at her more youthful years.

This is evidenced by rates for the disease close to the national average (1/725) for women aged at 32, and women at the age of 49 having high rates of 1/12.

A scenario that has recently been looked into points to Down’s syndrome rates in-creasing with higher paternal age as well.

Graph depicting rising rates for rising ma-ternal age. http://static.brazencareerist.com/pblog/DownsSyndromeGraph.gif

DIAGNOSIS Down’s syndrome is most always diag-

nosed prenatally, or before the child’s birth.

Many standard pre-natal screening pro-cedures can detect Down’s syndrome early on.

These include but are not limited to:- Ultrasound- Amniocentesis- CVS- PUBS

This ultrasound test reveals offspring with Down’s syndrome. http://upload.wikimedia.org/wikipedia/commons/5/5e/T21.JPG

PHYSICAL SYMPTOMS Microgenia (abnormally small chin) Muscle hypotonia (poor muscle tone) Flat nasal bridge Mongoloid fold Single palmar fold Protruding or enlarged tongue Short neck White spots on iris Excessive joint laxity in various parts of the body Higher number of ulnar loop dermatoglyphs. Congenital heart disease Malignancies (such as leukemia) Thyroid disorders Infertility

Those with Down’s syndrome often exude similar physical characteristics. http://blogs.monografias.com/sistema-limbico-neurociencias/files/2010/03/down-syndrome.jpg

LIFE EXPECTANCY As with all diseases, life expectancy

varies widely depending on the severity of the Down’s syndrome in various indi-viduals.

75% of those with the disease will not survive before birth.

Of these, 15% are expected to die be-fore one year of life.

The next 35% are expected to die some-time before 50.

The remaining 50% are expected to sur-vive over 50 years of age.

TREATMENT First and foremost, there is no cure. Primary treatment for any of the physi-

cal ailments are essential. For the disease itself, regular check-

ups/screenings, medications, surgery, and patient counseling are often the most effective modes for treatment.

Patience is preferable.

NEW RESEARCH There has been a push in focus for cognition,

or the ability for individuals to communicate and learn with fluidity.

This includes research into discovering with more clarity various underlying causes and then creating treatments to help patients cope with their hardship.

Pharmaceutical and emotional therapies are being more extensively developed.

Somewhat inquisitive, but interaction with pa-tients in order to observe behavioral charac-teristics have greatly assisted in the journey for a possible cure or treatment.

EVERYDAY LIFE/QUALITY OF LIFE Babies with Down’s syndrome are at greater risk of having

congenital disorders. Some 40% of babies are born with serious congenital heart defects, but most can now be re-paired by heart surgery during the first year or improve with time. A smaller number of babies have intestinal ob-structions, which require surgery shortly after birth. Babies with Down’s syndrome tend to be less resistant to infec-tions and need extra care during infancy and throughout life. They are also at greater risk for thyroid disorders and some other illnesses, most of which are easily treated.

By the time they reach their teenage years, most young people with Down syndrome are healthy and have similar healthcare needs to the rest of the population.

In middle to old age (beyond 40 years of age), adults with Down’s syndrome are at greater risk of developing Alzheimer disease.

LIMITATIONS Some limitations include sensory impairments, hearing

loss, vision, additional developmental and educational needs, social development and communication, speech impediment, and verbal short-term memory. All studies of the development of children with Down’s syndrome indicate that the children will progress more slowly than typically developing children and will have significant learning difficulties. In the first year of life, babies with Down’s syndrome show only slight delay in their social and communicative development. They smile just a week or so later than average and then are very interested in other people, communicating with smiles, coos and then babble, just like all infants. They then move on to using gestures (pointing, waving) to attract attention and ask for what they want a little later but essentially like all children.

LIMITATIONS CONT. Verbal short-term memory skills seem to be less effi-

cient and to develop more slowly in children with Down syndrome. In all children they influence lan-guage learning and speech processing abilities so ac-tivities that help to develop memory skills are impor-tant.

The other important medium through which they learn is play - play as we see it through childhood and then in leisure activities. Children with Down’s syndrome learn through play like everyone else, but they may benefit from more help. It may be important to demonstrate play activities and become a play partner in order to encourage play and exploration for the child with Down’s syndrome. Remember that they may not be understanding all the talk you use, but they are good at watching and learning by imitation.

HELPFUL ORGANIZATIONS FOR CHIL-DREN WITH DOWN’S SYNDROME http://www.med.umich.edu/yourchild/top

ics/internetguide.htm http://www.med.umich.edu/yourchild/top

ics/chronic.htm#adjust http://www.k-state.edu/counseling/topics

/relationships/dysfunc.html

HELPFUL ORGANIZATIONS FOR CHIL-DREN WITH DOWN’S SYNDROME CONT. All of these websites have organizations that help families

cope with their child having a disorder. They schedule groups for support and advice. Some of them even have websites that are open to telling your story and seeing others’. Fami-lies, education and healthcare professionals, and society as a whole, need to aim to offer people with Down’s syndrome normality first and foremost. Children with Down’s syndrome should receive the normal range of family stimulation, play, social experience and education opportunities as all other children. All people with Down’s syndrome should receive the same minimum standards of healthcare as all other people, supplemented with appropriate preventative management of their particular additional medical needs. The specific special activities targeted to help the child, such as signing or phys-iotherapy should be provided in addition to normal childhood experiences. They should therefore be provided in regular settings, alongside typically developing peers.

HOW IS IT POSSIBLE FOR A CURE TO BE FOUND? Medications can be used to treat certain con-

ditions that someone may have with Down’s syndrome, but no cure has been discovered yet but there has been research on the in-crease of Down’s syndrome. The treatment consists of a common dietary supplement (EGCG). A family used EGCG and said that they’re 12-year-old son had Down’s syndrome and by taking this is helped significantly with his memory problems.

Chronic smoking is associated with a signifi-cant decrease in higher level brain function during middle age.

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