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DOWNSYNDROME

RUDY HANDOYO

REHABILITASI MEDIK

FK UNDIP/RS Dr. KARIADI

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Introduction

Down syndrome is a genetic condition that causesdelays in physical and intellectual development.

It occurs in approximately one in every 800 live births.

About 85% of infants with Down syndrome survive year! and 50% of people with Down syndrome livelonger than 50 years.

Down syndrome is not related to race! nationality!religion or socioeconomic status.

"he most important fact to #now about individualswith Down syndrome is that they are more li#e othersthan they are different.

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Cause Down syndrome is usually caused by an error

in cell division called nondis$unction.

It is not #nown why this occurs. owever! it is

#nown that the error occurs at conception andis not related to anything the mother did

during pregnancy.

It has been #nown for some time that the

incidence of Down syndrome increases withadvancing maternal age. owever! 80% of

children with Down syndrome are born to

women under &5 years of age.

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Classifications

"risomy ' (non

dis$unction) *5% of all cases

ave an entireextra

chromosome in

every cell

+ot geneticallyinherited

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Classifications "ranslocation &,-% of all cases

"otal number of

chromosomes isnormal

art of chromosome

' brea#s off and

attaches to another

chromosome toproduce signs and

features

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Classifications/osaicism ,'% of all cases

Abnormal cell division in only some cells Abnormal cells contain - chromosomes

with extra genetic material on the 'st

1ymptoms are nearly the same

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Characteristic

Features of own

Syndrome

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Characteristic

Features of own

Syndrome

"he head may be smaller than normal (microcephaly)

and abnormally shaped.

"ypical facial features include a flattened nose!protruding tongue! and upward slanting eyes.

"he inner corner of the eyes may have a rounded foldof s#in (epicanthal fold) rather than coming to a point.

"he hands are short and broad with short fingers! andthey often have a single crease in the palm.

+ormal growth and development is usually retarded!and most affected children never reach average adultheight.

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Characteristic

Features of own

Syndrome

eart defects present from birth are oftenpresent in people with Down syndrome.

2arly death is often caused by cardiac

abnormalities. 3astrointestinal abnormalities (such as

esophageal atresia! duodenal atresia) arealso relatively common.

Acute lymphocytic leu#emia is also morecommon in children with Down syndrome.

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Risk for Down

syndrome Advanced maternal age remains the only well,documentedris# factor for Down syndrome. 4ith a maternal age of &5 years! ris# is in &85. 4ith a maternal age of -0 years! ris# is in 0. 4ith a maternal age of -5 years! ris# is in &0.

6ouples who have had one child with the most commontype of Down syndrome are at a slightly increased ris#(about %) for having another affected child.

A carrier parent with a translocation has much higher ris#of having a baby with Down syndrome. eople with Down syndrome rarely reproduce. 7rom 5,

&0% of women with trisomy ' are fertile! and they have a50% ris# of having an affected child. +o evidence exists of

an affected man fathering a child.

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Screenin for own

Syndrome

renatal screening and diagnosis ecause Down syndrome is associated with getting pregnant at an

older age! older women should generally have screening withamniocentesis.

Amniocentesis (routinely performed at -, wee#s9 gestation) is

the most commonly used and most reliable invasive diagnostictest. "he procedure is associated with a small ris# of pregnancyloss ( in '00,&00).

:ther invasive diagnostic tests include chorion villi biopsy (6;1) inthe first trimester and cordocentesis (collection of fetal blood fromthe umbilical vein with an ultrasound,guided needle). 7luorescence

in situ hybridi

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Screenin for own

Syndrome

:ther screening tests include testing for

low maternal serum alpha,fetoprotein

(/1A7)! high human chorionicgonadotropin (h63)! and low

uncon$ugated estriol (u2&).

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Screenin for own

Syndrome

Down syndrome may also be suspected based onprenatal ultrasonography in routine examination or inwomen at high ris#. "he prenatal ultrasound mar#ersinclude the following=

+uchal (nec#) fold thic#ening , Identifies 5% of Down syndromefetuses

1hortened humerus or femur length , Detect about &% of cases 6ystic hygroma (cystic structure in nec# region) Duodenal atresia or stenosis (double bubble sign) 6ardiac defects , "he most common defects are endocardial cushion

defect with atrial and ventricular septal defects. 2chogenic bowel (the bowel reflects sound waves) >enal pyelectasis (dilatation of the pelvis of the #idney)

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!ealth "ro#lems

>espiratory infections ? leading cause of death in children earing problems ? 5% ris# in children Dental problems ? periodontal disease

1ei

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Diseases $ssociatedwith Down Syndrome

eart disease ? 50% of children have heart defects at birth "hyroid disease ? 5% of children! usually underactive

thyroid (hypothyroidism) Digestive system problems ? constipation and intestinal

bloc#ages due to hypotonia! abnormal narrowing of theduodenum

2ye problems= cataracts and cornea disease are less

common Al

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%reatment

"here is no specific treatment for Down syndrome.2arly intervention programs! such as physicaltherapy! occupational therapy! and speech

therapy! are helpful. 1pecial education and training is offered in most

communities for mentally handicapped children. eople with Down syndrome should have plenty of

opportunities to participate in community life.6hildren with Down syndrome should participate insocial activities! sports! and other aspects ofsociety during the growing years.

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%reatment

C >is# of vision problems! hearing loss!

infection! cardiac! gastrointestinal and

hypothyroidism is increased! therefore

screening and treatment may benecessary.

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$ssessment'

6ommunication= y eye movement 4ith sound 4ith bodily responses

2ye contact= 4ith people 4ith toys

ead control= "o lift and turn In lying and sitting

/outh and trun# control= 7or sounds 7or feeding 7or mouth closure

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$ssessment'

Arm support= 7or propping in prone "o crawl to balance in sitting

and use= "o reach and grasp "o pass ob$ects from hand to hand "o manipulate

"run# control= As a base for movement "o balance and respond to outside faces

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$ssessment'

1table sitting= 1upported

Independent

/obility >olling and crawling

ying and sitting

1itting to standing 4al#ing

>unning! $umping! hopping

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S(eech and )anuae(ro#lems

1e@uencing of sounds and words may be

difficult

earing loss and oral,facial wea#ness and

structural differences directly affect speech

Intelligibility of speech and articulation is an

issue ? associated with low muscle tone and

oralEfacial anomalies 7luency problems may be present

"reatment should be individually designed

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Coniti*e (ro#lems

50,0% of the population has an IF

range from &0,50

6oncentration difficultiesearning difficulties

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E+ERCISE $ND$C%I,I%Y

Aims= ealth related

/otor fitness strength

speed and power

agility

6ardiorespiratory fitness

4eight control

osture! flexibility

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E+ERCISE $ND$C%I,I%Y

Aims= 1#ill,related=

se of ob$ects! e@uipment and texture

1ocial aspects=6ooperative s#ills Interaction

6reative aspects= ImaginationFuality of movement

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E+ERCISE $ND$C%I,I%Y

6omponents= 1tamina and endurance

1itting balance! standing balance

/anual dexterity

Arm strength

6oordination

/ovement experience= swings! rolls Imagination= ma#ing body shapes

7ine motor s#ills

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Co(in Strateies

se routine! order! and sameness as away of rationali

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"ronosis

/any adult patients are healthy! have moreactive roles in society! and have increasedlifespan. owever! life expectancy is still

reduced compared to the normal population. 6ongenital heart disease is the ma$or causefor early death.

/any people with Down syndrome begin todevelop progressive loss of mental functionsimilar to Al