Down’s SyndromeDown’s SyndromeZach SalinasZach Salinas

Fergus SharpFergus Sharp

Medical Question #1Medical Question #1

How does a person inherit Down’s How does a person inherit Down’s Syndrome?Syndrome?

Is it dominant or recessive?Is it dominant or recessive?

Medical Answer #1Medical Answer #1

Down’s Syndrome is a Down’s Syndrome is a genetic abnormality genetic abnormality Individual has all or part of Individual has all or part of

an extra 21an extra 21stst chromosome chromosome Caused by nondisjunctionCaused by nondisjunction

Failure of chromosome to Failure of chromosome to separate during meiosisseparate during meiosis

It is dominantIt is dominant All persons possessing an All persons possessing an

extra 21extra 21stst chromosome chromosome show signs of Down’s show signs of Down’s SyndromeSyndrome

Medical Question #2Medical Question #2

What are the possible genotypes of the What are the possible genotypes of the parents?parents?

Medical Answer #2Medical Answer #2 Down Syndrome can be caused by Down Syndrome can be caused by

pure chance, or genetic historypure chance, or genetic history It is present in all populations and It is present in all populations and

ethnicitiesethnicities The disease is caused by the presence The disease is caused by the presence

of part of, or an entire extra copy of the of part of, or an entire extra copy of the 2121stst chromosome (chromosomal chromosome (chromosomal abnormality)abnormality)

Medical Question #3Medical Question #3

How prevalent is Down’s Syndrome in the How prevalent is Down’s Syndrome in the population?population?

Medical Answer #3Medical Answer #3 The disease is present 1 The disease is present 1

in 733 birthsin 733 births The disease is more The disease is more

common in children with common in children with older parentsolder parents Older parents have Older parents have

increased mutagenic increased mutagenic exposure to sex cellsexposure to sex cells

The disease has the The disease has the same approximate same approximate incidence in all incidence in all populations and populations and ethnicitiesethnicities

Medical Question #4Medical Question #4

What are the chances of a person with this What are the chances of a person with this disease passing the disease to their disease passing the disease to their

offspring?offspring?

What are some scenarios where this might What are some scenarios where this might happen?happen?

Medical Answer #4Medical Answer #4 Only 15-30 percent of women with Only 15-30 percent of women with

down syndrome are fertiledown syndrome are fertile Majority of people with down Majority of people with down

syndrome cannot reproducesyndrome cannot reproduce For fertile affected individuals, there For fertile affected individuals, there

is around a 50% chance that their is around a 50% chance that their children also will have Down’s children also will have Down’s SyndromeSyndrome

Medical Question #5Medical Question #5

How is Down’s Syndrome diagnosed?How is Down’s Syndrome diagnosed?

Medical Answer #5Medical Answer #5

Down’s Syndrome usually detected by Down’s Syndrome usually detected by appearanceappearance

Typical visual indicators:Typical visual indicators:

flat face short neck small headflat face short neck small head

abnormally shaped ears small hands abnormally shaped ears small hands

protruding tongue small feetprotruding tongue small feet

poor muscle tone up-slanted eyespoor muscle tone up-slanted eyes

Medical Answer #5 ContinuedMedical Answer #5 Continued

If physical charaterisitics If physical charaterisitics are present, Down’s are present, Down’s Syndrome can be Syndrome can be confirmed with confirmed with karyotypingkaryotyping Display of paired Display of paired

chromosomes 1 – 23chromosomes 1 – 23 Down’s Syndrome will Down’s Syndrome will

appear with three 21’sappear with three 21’s

Pregnancy screeningsPregnancy screenings Include Aminocentesis and Include Aminocentesis and

Chorionic villus samplingChorionic villus sampling

Medical Question #6Medical Question #6

What are the physical symptoms of Down’s What are the physical symptoms of Down’s Syndrome?Syndrome?

Medical Answer #6Medical Answer #6 See the characteristics See the characteristics

listed in answer #5listed in answer #5 Also can cause functional Also can cause functional

problemsproblems Impaired hearingImpaired hearing Vision problemsVision problems Intestinal issuesIntestinal issues Heart diseasesHeart diseases Thyroid disfunctionsThyroid disfunctions Skeletal abnormalitiesSkeletal abnormalities DementiaDementia And more…And more…

Medical Question #7Medical Question #7

What is the normal life expectancy of What is the normal life expectancy of someone with Down’s Syndrome?someone with Down’s Syndrome?

Medical Answer #7Medical Answer #7 Approximately ¾ Approximately ¾

babies with down babies with down syndrome die in utero syndrome die in utero (before birth)(before birth)

15% die before 15% die before reaching age 1reaching age 1

35% die before age 5035% die before age 50 The remaining 50 % will The remaining 50 % will

likely die between 55 likely die between 55 and 65 years of ageand 65 years of age Has increased Has increased

substantially in recent substantially in recent yearsyears

Medical Question #8Medical Question #8

How can Down’s Syndrome be treated?How can Down’s Syndrome be treated?

Medical Answer #8Medical Answer #8 Some patients undergo Some patients undergo

plastic surgery to plastic surgery to reduce physical reduce physical abnormalities in abnormalities in attempts to limit social attempts to limit social stigmastigma

Most patients undergo Most patients undergo counseling and supportcounseling and support

The subsequent issues The subsequent issues caused by Down’s caused by Down’s Syndrome are treated, Syndrome are treated, but the disease itself is but the disease itself is incurableincurable

Medical Question #9Medical Question #9

What are some new treatments or research What are some new treatments or research areas for Down’s Syndrome?areas for Down’s Syndrome?

Medical Answer #9Medical Answer #9

Research into Research into improving cognitive improving cognitive abilities of Down’s abilities of Down’s Syndrome patientsSyndrome patients

Stanford University Stanford University researchers are researchers are working on identifying working on identifying new targets to focus new targets to focus drugs on (DNA, drugs on (DNA, proteins, etc.)proteins, etc.)

Personal Question #1Personal Question #1

What is everyday life like with Down’s What is everyday life like with Down’s Syndrome?Syndrome?

What is the quality of life?What is the quality of life?

Personal Answer #1Personal Answer #1 Tasks normal for other Tasks normal for other

people are much harderpeople are much harder Trouble walkingTrouble walking Trouble talkingTrouble talking Decreased cognitive Decreased cognitive

abilitiesabilities Risks of organ and Risks of organ and

structural issues raisedstructural issues raised Skeletal misalignmentSkeletal misalignment Heart diseaseHeart disease Intestinal issuesIntestinal issues Mental retardation Mental retardation

(brain)(brain)

Life expectancy loweredLife expectancy lowered Very little independence Very little independence

due to issues with due to issues with organs, retardation, and organs, retardation, and movementmovement

Social stigma against Social stigma against physical traits of Down’s physical traits of Down’s syndrome being uglysyndrome being ugly

Necessity for psychiatric Necessity for psychiatric helphelp

Frequent medical therapy Frequent medical therapy for subsequent diseases for subsequent diseases caused by Down’s caused by Down’s SyndromeSyndrome

Personal Answer #1 ContinuedPersonal Answer #1 Continued

Personal Question #2Personal Question #2

What limitations does the affected person What limitations does the affected person have?have?

Personal Answer #2Personal Answer #2 Mental retardation limits Mental retardation limits

person’s ability to reason person’s ability to reason and reactand react Average IQ of affected Average IQ of affected

individuals is half the individuals is half the average of unaffected average of unaffected peoplepeople

Athletic limitationsAthletic limitations People often struggle to People often struggle to

even walkeven walk Many participate in the Many participate in the

Special Olympics, where Special Olympics, where competition standards are competition standards are tailored to affected peopletailored to affected people

Personal Question #3Personal Question #3

What are some organizations that can help What are some organizations that can help a family cope with having a child with a family cope with having a child with

Down’s Syndrome?Down’s Syndrome?

Personal Answer #3Personal Answer #3 National Down Syndrome National Down Syndrome

SocietySociety National Down Syndrome National Down Syndrome

CongressCongress Down Syndrome Down Syndrome

Research Foundation & Research Foundation & Resource CentreResource Centre

Many more national, Many more national, regional, and local regional, and local organizationsorganizations

See: See: http://http://www.kumc.edu/gec/suppwww.kumc.edu/gec/support/down_syn.htmlort/down_syn.html

Personal Question #4Personal Question #4

How possible is it that a cure will be found?How possible is it that a cure will be found?

Personal Answer #4Personal Answer #4 There is little to no There is little to no

chance that a cure chance that a cure will be foundwill be found

This is due to the fact This is due to the fact that it is a that it is a chromosomal chromosomal problemproblem To solve the problem, To solve the problem,

the third copy of the third copy of chromosome 21 would chromosome 21 would have to be removed have to be removed from all cellsfrom all cells

Works CitedWorks Cited "Down "Down

Syndrome." Syndrome." Learn.Genetics™Learn.Genetics™. . Web. 01 Mar. 2011. Web. 01 Mar. 2011. <http://learn.genetics.utah.edu/con<http://learn.genetics.utah.edu/content/disorders/whataregd/down/>. tent/disorders/whataregd/down/>.

Down Syndrome Research and Down Syndrome Research and Treatment Foundation - HomeTreatment Foundation - Home. . Web. 01 Mar. 2011. Web. 01 Mar. 2011. <http://www.dsrtf.org/>. <http://www.dsrtf.org/>.

"Down Syndrome." "Down Syndrome." University of University of Kansas Medical CenterKansas Medical Center. Web. 01 . Web. 01 Mar. 2011. Mar. 2011. <http://www.kumc.edu/gec/support<http://www.kumc.edu/gec/support/down_syn.html>. /down_syn.html>.

"Down Syndrome: What Is "Down Syndrome: What Is It?" It?" Your Genes, Your HealthYour Genes, Your Health. . Web. 01 Mar. 2011. Web. 01 Mar. 2011. <http://www.ygyh.org/ds/whatisit.h<http://www.ygyh.org/ds/whatisit.htm>. tm>.

"Down Syndrome." "Down Syndrome." Wikipedia, the Wikipedia, the Free EncyclopediaFree Encyclopedia. Web. 01 Mar. . Web. 01 Mar. 2011. 2011. <http://en.wikipedia.org/wiki/Down<http://en.wikipedia.org/wiki/Down_syndrome>. _syndrome>.

"Down Syndrome:Trisomy 21 : "Down Syndrome:Trisomy 21 : American Pregnancy American Pregnancy Association." Association." Promoting Promoting Pregnancy Wellness : American Pregnancy Wellness : American Pregnancy AssociationPregnancy Association. Web. 01 . Web. 01 Mar. 2011. Mar. 2011. <http://www.americanpregnancy.o<http://www.americanpregnancy.org/birthdefects/downsyndrome.htmrg/birthdefects/downsyndrome.html>. l>.

Graphic CitationsGraphic Citations Bert HollbrookBert Hollbrook. Digital image. . Digital image. Man with Man with

Down's Syndrome Is Going for the Down's Syndrome Is Going for the Record; He's 80Record; He's 80. PatriciaEBauer, 3 . PatriciaEBauer, 3 Sept. 2008. Web. 1 Mar. 2011. Sept. 2008. Web. 1 Mar. 2011. <http://www.patriciaebauer.com/2008/<http://www.patriciaebauer.com/2008/09/03/oldest-living-3081/>. 09/03/oldest-living-3081/>.

Child with Down SyndromeChild with Down Syndrome. Digital . Digital image. image. The Down Syndrome In The Down Syndrome In ChildrenChildren. Methods of Healing, 2011. . Methods of Healing, 2011. Web. 1 Mar. 2011. Web. 1 Mar. 2011. <http://www.methodsofhealing.com/the<http://www.methodsofhealing.com/the-down-syndrome-in-children/>. -down-syndrome-in-children/>.

Down SyndromeDown Syndrome. Digital image. . Digital image. Down Down Syndrome SymptomsSyndrome Symptoms. Down . Down Syndrome Symptoms. Web. 1 Mar. Syndrome Symptoms. Web. 1 Mar. 2011. 2011. <http://downsyndromesymptoms.com/<http://downsyndromesymptoms.com/>. >.

Down's Syndrome BoyDown's Syndrome Boy. Digital . Digital image. image. Downs SyndromeDowns Syndrome. Web. 1 Mar. . Web. 1 Mar. 2011. 2011. <http://sites.google.com/site/downssyd<http://sites.google.com/site/downssydromecom/>. romecom/>.

Down's Syndrome Embryo. Digital Down's Syndrome Embryo. Digital image. image. Defects Go Unnoticed In Defects Go Unnoticed In Prenatal ScreeningPrenatal Screening. The MedGuru, 2 . The MedGuru, 2 June 2008. Web. 1 Mar. 2011. June 2008. Web. 1 Mar. 2011. <http://www.themedguru.com/articles/d<http://www.themedguru.com/articles/defects_go_unnoticed_in_prenatal_screefects_go_unnoticed_in_prenatal_screening-7324151.html>. ening-7324151.html>.

Down's Syndrome KidsDown's Syndrome Kids. Digital . Digital image. image. Down Syndrome (Trisomy 21)Down Syndrome (Trisomy 21). . Tripod. Web. 1 Mar. 2011. Tripod. Web. 1 Mar. 2011. <http://savannah5831.tripod.com/>. <http://savannah5831.tripod.com/>.

Graphic Citations ContinuedGraphic Citations Continued Father with Oldish Child with Down Father with Oldish Child with Down

SyndromeSyndrome. Digital image. . Digital image. Down Syndrome Down Syndrome Children and Down Syndrome PicturesChildren and Down Syndrome Pictures. . CDADC, 2010. Web. 1 Mar. 2011. CDADC, 2010. Web. 1 Mar. 2011. <http://www.cdadc.com/ds/down-syndrome-<http://www.cdadc.com/ds/down-syndrome-children-down-syndrome-pictures.html>. children-down-syndrome-pictures.html>.

Gail BlairGail Blair. Digital image. PatriciaEBauer, 10 . Digital image. PatriciaEBauer, 10 Mar. 2008. Web. 1 Mar. 2011. Mar. 2008. Web. 1 Mar. 2011. <http://www.patriciaebauer.com/category/do<http://www.patriciaebauer.com/category/down-syndrome/page/67/>. wn-syndrome/page/67/>.

NDSS LogoNDSS Logo. Digital image. . Digital image. Helpful LinksHelpful Links. . Down Syndrome Network of Greater Down Syndrome Network of Greater Greensboro. Web. 1 Mar. 2011. Greensboro. Web. 1 Mar. 2011. <http://www.fsncc.org/DSNGG_Links.html>. <http://www.fsncc.org/DSNGG_Links.html>.

Nondisjunction. Digital image. Nondisjunction. Digital image. Human Human Chromosomal DisordersChromosomal Disorders. IUPUI Department . IUPUI Department of Biology, 24 Mar. 2004. Web. 1 Mar. 2011. of Biology, 24 Mar. 2004. Web. 1 Mar. 2011. <http://www.instruction.greenriver.edu/kmarr<http://www.instruction.greenriver.edu/kmarr/Biology100/Bio100Lab/Human/Biology100/Bio100Lab/Human%20Chromosomal%20Disorders/%20Chromosomal%20Disorders/2k4csomaldisordersnotes.html>. 2k4csomaldisordersnotes.html>.

People with Down's Syndrome. Digital People with Down's Syndrome. Digital image. image. Prenatal Testing for Down Syndrome Prenatal Testing for Down Syndrome Demands Better Information for ParentsDemands Better Information for Parents. . Mommy Life, 1 Aug. 2007. Web. 1 Mar. Mommy Life, 1 Aug. 2007. Web. 1 Mar. 2011. 2011. <http://mommylife.net/archives/2007/08/pre<http://mommylife.net/archives/2007/08/prenatal_testin.html>. natal_testin.html>.

Scientists LabScientists Lab. Digital image. . Digital image. Gas Gas Chromatography/Mass Spectrometry Test Chromatography/Mass Spectrometry Test ServiceService. Angelscope, 2010. Web. 1 Mar. . Angelscope, 2010. Web. 1 Mar. 2011. 2011. <http://www.earlydrugtesting.co.uk/gc_ms_t<http://www.earlydrugtesting.co.uk/gc_ms_test.htm>. est.htm>.

Special OlympicsSpecial Olympics. Digital image. . Digital image. Special Special OlympicsOlympics. The PhotoEdit Blog., 13 Aug. . The PhotoEdit Blog., 13 Aug. 2009. Web. 1 Mar. 2011. 2009. Web. 1 Mar. 2011. <http://photoeditblog.wordpress.com/2009/0<http://photoeditblog.wordpress.com/2009/08/13/august-11-2009-special-olympics/>. 8/13/august-11-2009-special-olympics/>.

Trisomy 21 Karyotype. Digital image. Trisomy 21 Karyotype. Digital image. Down Down SyndromeSyndrome. Learn. Genetics, 2011. Web. 1 . Learn. Genetics, 2011. Web. 1 Mar. 2011. Mar. 2011. <http://learn.genetics.utah.edu/content/disor<http://learn.genetics.utah.edu/content/disorders/whataregd/down/>. ders/whataregd/down/>.