down syndrome

Down Syndromeby Teri White-Griffin

Living with

Down Syndrome is also called

Trisomy 21

Trisomy 21 is a congenital

condition that makes an extra copy of the 21st chromosome.

This extra chromosome

causes mental and physical developmental delays.

Testing for Down Syndromeduring pregnancy

It affects about 1 in every 800 babies.

Women age 35 and older have a higher risk of having a child with the condition.

Amniocentesis is used

to detect possible abnormalities in unborn children.

Common physical signs include: Decreased muscle tone at birth Excess skin at the nape of the

neck Flattened nose Upward slanting eyes Small ears Small mouth Wide, short hands with short

fingers Separated joints between the

bones of the skull Single crease in the palm of the

hand White spots on the colored part

of the eye

Mosaic Down Syndrome

About 2% to 4% of Down syndrome cases are mosaic.

Mosaic Down syndrome only affects some cells in the body and the rest of the cells are unaffected.

Mosaic Down syndrome can sometimes go undetected, because the person doesn’t have all the physical features.

Currently, there is no cure for Down Syndrome.

Treatments are aimed at fixing medical conditions that occur because of the syndrome.

Down Syndrome medical conditions may include:

◦ Congenital heart defects

◦ Gastrointestinal abnormalities

◦ Lymphatic leukemia ◦ Eye and ear problems◦ Underactive thyroid◦ Hip and joint problems

Children may have delayed mental and social development.

Impulsive behaviorPoor judgmentShort attention spanSlow learning

People with Down syndrome are living longer than ever before.

• They can live well into the 40s and 50s. • They can live independent and productive lives.

Most adults living with Down Syndrome have an increased risk of dementia

.

The mission of the National Down Syndrome Society is to be an advocate for the value, acceptance and inclusion of people with Down syndrome.

National Down Syndrome Society or NDSS has provided more than $3 million towards direct research.

Indiana Down Syndrome participates in the NDSS sponsored Buddy Walk campaign to raise money for Down Syndrome research.

Down Syndrome Indiana offers a number of programs and services on their website.

New Parent Information & Resource Packets Support for research and advocacy Financial assistance for youth who attend Camp Informational and Educational Conferences Parent Support Groups Mom’s Night Out events Family Picnics Self Advocates meetings and social activities

Raising Awareness

Early childhood education will help with community inclusion.

Click this video from the NDSS to see an example. Please wait for the file to load.

Chart of word parts and combining forms (CF)

Word Combining form/word parts Combining form/word parts

Syndrome Syn = together with (prefix) Drome = Running (suffix)

Trisomy Tri = three (prefix) Some/Somy/Somat = Cell Body (CF)

Chromosome Chrom /o = color (CF) Some/ Somy /Somat = Cell Body (CF)

Amniocentesis Amnion = bag of water (CF) Centesis = puncture to aspirate fluid (suffix)

Gastrointestinal Gastro = stomach (CF) Intestines

Lymphatic leukemia

Lymph/o /at = lymph (CF)leuk = white

ic - pertaining to (suffix)emia = blood condition (suffix)

Dementia de = from (prefix)ment = mind (CF)

ia = disease (suffix)

References: The National Down Syndrome Society Website: http://

www.ndss.org/index.php Down Syndrome Indiana Website: http://www.dsindiana.org/ Kids Health Website:

http://kidshealth.org/parent/medical/genetic/down_syndrome.html Medicine Plus Website: http://

www.nlm.nih.gov/medlineplus/ency/article/000997.htm Dorlan, W.A Newman, Dorland’s pocket 28th Edition Medical Dictionary

Philadelphia, PA: Elsevier Saunders, 2009

Images: http: ucl.ac.uk http: disaboomlive.com http: cameronwelker51.blogspot.com http: thegreenparent.com http: healthbama.com http://www.ndss.org http://www.dsindiana.org/