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CICI PETRISIA PANJAITAN

04011281520128

BETA

LEARNING ISSUE (DOWN SYNDROME)

 PENYEBAB SINDROM DOWN

Ada bb!a"a #a$ %a&' ba *&&'+a,+a& !+- ba% $a#! d&'a& &d!-* D-.& a,a/ db/, d&'a&

a+,-!a+,-! !+- %a,/3

J+a A&da ,$a# **$+ ba% $a& d&'a& &d!-* D-.&

J+a A&da **$+ ad+ a,a/ +a+a+ d&'a& &d!-* D-.&

J+a .a&,a #a*$ d /a 5 ,a#/& + a,a

 N-!*a$&%a ,!da"a, 46 +!-*--* da$a* $ -!a&' %a&' d.a!+a& *a&'*a&' 2 +!-*--*

da! a%a# da& b/ &a*/& +ba&%a+a& -!a&' d&'a& &d!-* D-.& **$+ 47 +!-*--*

P!+*ba&'a& ,/b/# da& +&!a -,a+ a+a& b!/ba# +a ,!da"a, +!-*--* +,!a a,a/ ,da+ &-!*a$

9!-*--* *!/"a+a& +/*"/$a& DNA da& *&'a&d/&' ",/&/+ '&,+a !&: %a&' **&'a!/#

a+,-!a+,-! $/a "!, .a!&a *a,a & +$a*& ba% da& "!+*ba&'a& ,a" $ ,/b/#

O!a&'-!a&' d&'a& &d!-* D-.& */a a,a/ bb!a"a $ da$a* ,/b/# *!+a **$+ 47

+!-*--* +a!&a ,!da"a, a,/ a$&a& +,!a da! +!-*--* 21 Ma,!a$ '&,+a ,a*ba#a& &

*&%bab+a& :!:! + da& "!,/*b/#a& %a&' ,!+a, d&'a& &d!-* D-.&

TIPE-TIPE SINDROM DOWN 

Ada ,'a ," &d!-* D-.& "!, %a&' db/,+a& d ba.a# &

  Trisomy 21. I& ada$a# ," %a&' "a$&' /*/* ,!ad da& da$a* $b# da! ;0 "!& "&d!,a

&d!-* D-.& T!-*% b!aa$ da! +a,a Y/&a& %a&' b!a!, <a$&a& +,'a= J+a ,a" $ d da$a*,/b/# **$+ a$&a& +!-*--* 21 +,!a -!a&' ,/ db/, *&d!,a &d!-* D-.& Trisomy 21

  Translocation. I& ada$a# ," %a&' dd!,a +,a! 4 "!& "&d!,a &d!-* D-.& T" &

,!ad +,+a +!-*--* 21 *&*"$+a& d!&%a :a!a +$!/ "ada +!-*--* $a& Ga$a &d!-*

D-.& translocation *!" d&'a& Trisomy 21.Translocation */&'+& aa d,/!/&+a& da! -!a&' ,/a +

a&a+a&a+ *!+a *+ #a$ & a!a&' ,!ad

  Mosaicism. I& ada$a# ," %a&' "a$&' a!a&' ,!ad d a&,a!a d/a ," &d!-* D-.& $a&&%a

da& #a&%a +,a! 2 "!& -!a&' %a&' ,!+&a &d!-* D-.& ," & Mosaicism ba db$a&' >! $b#

!&'a& da! Trisomy 21 +a!&a "ada "&d!,a &d!-* D-.& mosaicism #a&%a ba'a& +:$ $ %a&'

**$+ a$&a& +!-*--* 21 +,!a O!a&' d&'a& &d!-* D-.& mosaicism /*/*&%a *&'a$a*

#a*ba,a& "!,/*b/#a& %a&' $b# d+,

Faktor Risiko

?a+,-! %a&' $a *&&'+a,+a& !+- **$+ ba% d&'a& &d!-* D-.& ada$a# /a b/ aa,

*&'a&d/&' Wa&,a %a&' #a*$ d /a 25 ,a#/& **$+ !+- 1 ba&d&' 1250 J+a +#a*$a&

,!b/, d,/&da 10 ,a#/& !+-&%a *&&'+a, da& *&ad 1 ba&d&' 400 Da& +a d,/&da 10 ,a#/&

$a' #&''a #a*$ d /a 45 ,a#/& !+-&%a *&ad 1 ba&d&' 0

Wa&,a %a&' b!/a d ba.a# 5 ,a#/& **$+ +*a*"/a& b!a&a+ ,!,&'' #a$ & %a&'

*&%bab+a& b/ %a&' b!/a d ba.a# 5 ,a#/& *$a#!+a& $b# da! 50 "!& ba% d&'a& &d!-*

D-.&

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Wa&,a %a&' ,$a# **"/&%a a&a+ d&'a& &d!-* D-.& /'a $b# b!+- *$a#!+a& ba% d&'a&

+-&d & "ada +#a*$a& b!+/,&%a

S$a& a+,-! !+- /a ada a+,-! $a& %a&' ba *&&'+a,+a& !+- **$+ ba% d&'a& &d!-*

D-.& d a&,a!a&%a ada$a# +,/!/&a&

Wa$a/ a!a&' ,!ad , &d!-* D-.& ," translocation ba d,/!/&+a& da! -!a&' ,/a + a&a+ J&

+$a*& "*ba.a &d!-* D-.& translocation **&'a!/# +*/&'+&a& *.a! +-&d & "ada

a&a+

R+- +,a! "!& +a a%a# *&ad "*ba.a &d!-* D-.& translocation

R+- a&,a!a 10 #&''a 15 "!& +a b/ %a&' *&ad "*ba.a &d!-* D-.&

DIAGNOSIS SINDROM DOWN

9*/&'+&a& -!a&' ba% ,!$a#! d&'a& &d!-* D-.& da"a, dd,+ d&'a& *$a+/+a&

 "*!+aa& da& "&'/a& a&,&a,a$ Sda&'+a& /&,/+ da'&- $a&'+a# & ba d$a+/+a& aa, a&&

*a# b!ada d da$a* +a&d/&'a& a,a/ *$a$/ , da!a# ,$a# ba% d$a#!+a&

Pemeriksaan antenatal

P*!+aa& & **!+a #a$ ,da+ &-!*a$ %a&' */&'+& b!+*ba&' a,a/ /da# b!+*ba&' $a*a

+#a*$a& T & a*a +a$ ,da+ *&da'&- +-&d &d!-* D-.& ,a" d'/&a+a& /&,/+ 

**"!+!a+a& b!a"a ,&'' !+- a&& *&'a$a* &d!-* D-.& J+a *&/!/, "*!+aa&

a&,&a,a$ ada +*/&'+&a& :/+/" ,&'' a&& ,!+&a &d!-* D-.& , da'&- ba d$a+/+a& /&,/+ 

*&'-&!*a&%a

Ta" .a&,a #a*$ a+a& d,a.a! "*!+aa& +-&d '&,+a "!, &d!-* D-.& U*/*&%a

 "*!+aa& a&,&a,a$ d$a+/+a& "ada a+#! b/$a& +,'a /a +#a*$a&

Da$a* "*!+aa& a&,&a,a$ /&,/+ &d!-* D-.& , da!a# da& "*&daa&ltrason!  (USG) a+a&

d$a+/+a& T da!a# d$a+/+a& /&,/+ **!+a ,&'+a, "!-,& da& #-!*-& ,!,&,/ J+a da!a# A&da

*&'a&d/&' @a,@a, & da$a* ,&'+a,a& %a&' ,da+ &-!*a$ A&da */&'+& b!"$/a&' $b# ,&''

**$+ ba% d&'a& &d!-* D-.&

D&'a& , USG d-+,! a+a& *&'/+/! +,ba$a& :a!a& %a&' ,!$,a+ d b$a+a&' $#! ba% J/*$a#

:a!a& & ba **b! &-!*a *&'&a +*/&'+&a& ba% *&'a$a* &d!-* D-.&

J+a b!daa!+a& , da!a# da& , USG +*/&'+&a& ba% *&'a$a* &d!-* D-.& :/+/" ,&'' *a+a

b/ #a*$ ba *&a$a& , da'&-,+ /&,/+ *&'-&!*a +-&d ,!b/, b$/* ba% d$a#!+a&

("!&a,a$)

Tes diagnosis prenatal

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T %a&' da"a, *&da'&- &d!-* D-.& "ada ba% %a&' b$/* $a#! ada$a# a*&-:&, a,a/

 "&%a*"$a& >$/ +-!-&+ (CS :#-!-&: >$$/ a*"$&')

a!a" d"!#a,+a& ba#.a ada +,a! a,/ "!& "a& %a&' *&a$a& a$a# a,/ , & *&'a$a*

+-*"$+a +'/'/!a& S$a& +'/'/!a& !+- +d/a , ,!b/, /'a *$"/, &+ da& "&da!a#a&

CS da"a, d$a+/+a& ,$a# /a +#a*$a& **a/+ 10 "+a& d&'a& *&'a*b$ d+, a*"$ $

$ "$a&,a /&,/+ "*!+aa& $b# $a&/, d $ab-!a,-!/*

A*&-:&, baa&%a d$a+/+a& ,$a# /a +#a*$a& **a/+ 15 #&''a 22 "+a& d&'a&

*&'a*b$ d+, a*"$ a! +,/ba&

Diagnosis setelah kelahiran

S$a& , da'&- d a,a da'&- /'a ba d$a+/+a& ,$a# ba% $a#! U*/*&%a & d$a+/+a& b!daa!+a& "&a*"$a& + D-+,! /'a ba *$a+/+a& , da!a# %a&' db/, c"romosomal 

#aryoty$% /&,/+ *&'a&a$ +!-*--* da& **a,+a& da'&- &d!-* D-.&

PERAWATAN SINDROM DOWN

 

Db/,/#+a& "!a& a+, $/!/# a&''-,a +$/a!'a /&,/+ **ba&,/ "&d!,a &d!-* D-.& a'a! 

*&da"a,+a& +#d/"a& &-!*a$ */&'+& +a!&a &d!-* D-.& ,da+ ba d*b/#+a&

Keluarga dengan anak Sindrom DownAda bb!a"a #a$ %a&' ba d$a+/+a& +a a&a+ A&da *&d!,a &d!-* D-.& d a&,a!a&%a ada$a#3

M&'+/, '!/" a,a/ -!'a&a d/+a da& d/+/&'a& a'a! da"a, b!,/+a! &-!*a /&,/+ 

**ba&,/ "a!a -!a&' ,/a +$/a!'a da& ,*a&

M*$+ da& *&a$a& +#d/"a& +$/a!'a %a&' &-!*a$ !,a +a#$a& *&'a/# %a&' ba+

M*$+ a+ "!a.a,a& +#a,a& %a&' ba+ ,!*a/+ *&*/ bb!a"a "a$ b!bda

/a +b/,/#a&

M&'+/, b!ba'a "!-'!a* %a&' *&d/+/&' ba' a&a+a&a+ "&d!,a &d!-* D-.& da& -!a&'

,/a

Ada da*"a+ *--&a$ %a&' "a, d!aa+a& -$# -!a&' ,/a aa, *&',a#/ a&a+&%a *&d!,a &d!-*

D-.& "!, *!aa d# b&'/&' da& ,a+/, O!a&' ,/a ba+&%a *&:a! ,a#/ $b# ba&%a+ ,&,a&'

+-&d & da& b:a!a d&'a& "#a+ "!--&a$ *d da& -!a&' ,/a $a& /&,/+ b!ba' "&'a$a*a& a'a! 

*&da"a,+a& "*a#a*a& %a&' $b# ba+ a+a& da*"a+ +#d/"a& %a&' */&'+& *!+a a$a*

O!a&' ,/a #a!/ *&*/+a& +*ba&'a& da$a* *&'a/# ,da+ #a!/ $a$/ *$a+/+a& +'a,a& %a&'

*&dd+ &a*/& ba /'a *$a+/+a& +'a,a& da$a* b&,/+ !+!a a,a/ b!&a&'&a&' d&'a&

+$/a!'a

I&'a, ba#.a A&da ,da+ &d! da$a* ,/a %a&' A&da #ada" & A&da ba b!ba' &-!*a da&

 "&'a$a*a& d&'a& +$/a!'a $a& a,a/ a-a &d!-* D-.& "!,I+a,a& S&d!-*a D-.& I&d-&a

Orang Dewasa dengan Sindrom Down

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Ba&%a+ -!a&' d.aa d&'a& &d!-* D-.& da"a, *&a$a& +#d/"a& %a&' a+, da& *a&d! d&'a&

 ba&,/a& da& d/+/&'a& Da& ,da+ d+, da! *!+a %a&' *&'a! "&dd+a& $b# ,&'' Ba#+a&

 bb!a"a -!a&' d&'a& &d!-* D-.& *&da"a,+a& "+!aa& baa&%a "a!/# .a+,/

Ba&%a+ -!a&' d&'a& &d!-* D-.& /'a **$+ #/b/&'a& a*a!a &a*/& *!+a **!$/+a&

 b*b&'a& da& d/+/&'a& +a *&%a&'+/, #a$ "!, +-&,!a"

P&d!,a &d!-* D-.& :&d!/&' **$+ ,&'+a, +/b/!a& $b# !&da# M+ /$, b/+a& b!a!,

*!+a ,da+ ba **$+ a&a+ Wa&,a d&'a& &d!-* D-.& **$+ !+- +'/'/!a& da& $a#! 

 "!*a,/! $b# ba! J+a -!a&' .a&,a **$+ &d!-* D-.& !+- a&a+&%a *&'a$a* #a$ %a&'

!/"a ada$a# +,a! 40 "!&

Ma# /$, /&,/+ *&'#,/&' !+- a&a+ ,!+&a &d!-* D-.& +a +d/a -!a&' ,/a&%a ada$a#

 "&d!,a +a!&a #a$ & *a# a&'a, a!a&' ,!ad

B*b&'a& da& d/+/&'a& "a$ d"!$/+a& ba' *!+a %a&' **/,/+a& /&,/+ **$+ a&a+ da$a*

*&'a,a ,/&,/,a& + da& *&,a$ da! ba% %a&' a+a& $a#! &a&,&%a

9OMPLI9ASI SINDROM DOWN

 9-*"$+a */&'+& ,!ad aa, $a#! a,a/ ,*b/$ d +*/da& #a! +a!&a */a -!'a& d da$a* ,/b/#

 ba ,!+&a da*"a+ *a,!a$ '&,+a +,!a

A&a+a&a+ d&'a& &d!-* D-.& da"a, *&'a$a* +-*"$+a a,a/ *aa$a# +#a,a& b!bdabda

%a&' **b/,/#+a& "!a.a,a& *d !,a "!#a,a& +,!a Bb!a"a +-*"$+a +#a,a& %a&' da"a,

,!ad d a&,a!a&%a3

Masalah pencernaan. Ba&%a+ -!a&' d&'a& &d!-* D-.& **$+ *aa$a# "&:!&aa&

"!, da! +-&,"a da& +/$,a& *&:!&a D"!+!a+a& ,!da"a, +,a! 515 "!& -!a&' d&'a&

&d!-* D-.& *&d!,a "&%a+, co%liac (,da+ da"a, *&'-&/* '$/,&)

Demensia. O!a&' d&'a& &d!-* D-.& **$+ +:&d!/&'a& ,!+&a d*&a d /a */da

dba&d&'+a& "-"/$a "ada /*/*&%a da& $b# b!+- ,!+&a "&%a+, A$@#*!

Masalah penglihatan. S+,a! ,&'a# "&d!,a &d!-* D-.& **$+ *aa$a# d&'a&

 "&'$#a,a& *!+a "!, +a,a!a+ !ab/& a/# !ab/& d+a,   /$&'nysta&ms a*b$-"

da& +-&/&',>,

Leukemia. Sba'a& +:$ a&a+a&a+ d&'a& &d!-* D-.& *&d!,a $/+*a a+/,

Gangguan jantung. S+,a! ,&'a# da! "a& a&a+a&a+ d&'a& &d!-* D-.& *&d!,a

'a&''/a& a&,/&' ba.aa& da& $b# da! ,&'a#&%a **b/,/#+a& "!a.a,a& d !/*a# a+,

Ineksi. O!a&' d&'a& &d!-* D-.& $b# !&,a& ,!+&a &+ ,!/,a*a &+ "a!/"a!/

S,* ++ba$a& ,/b/# a$a* ba *$a.a& &+ +a b!+*ba&' d&'a& ba+ &a*/& -!a&' d&'a&

&d!-* D-.& ,da+ **$+ ,* ++ba$a& ,/b/# a$a* %a&' ba+

Masalah kelenjar tiroid. 9$&a! ,!-d b!/&' /&,/+ *&'&da$+a& *,ab-$* d&'a&

*$"a+a& #-!*-& ,!-d + da$a* ,/b/# O!a&' d&'a& &d!-* D-.& **$+ !+- $b# ,&''

,!+&a *aa$a# +$&a! ,!-d 9ba&%a+a& "&d!,a &d!-* D-.& *&'a$a* #"-,!-d* da&

**$+ 'a$a "!, b!,a*ba#&%a b!a, bada& !a+ + da& *&,a$ %a&' $a*ba& !,a $*a

Masalah pendengaran. 9/!a&' $b# +,a! ,&'a# "&d!,a &d!-* D-.& **$+

*aa$a# d&'a& ,$&'a da& "&d&'a!a& U*/*&%a *!+a *&'a$a* !ada&' ,$&'a ,&'a# %a&'

dbab+a& -$# +$b#a& :a!a&

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!pnea tidur. P&d!,a &d!-* D-.& ba+ a&a+a&a+ *a/"/& d.aa **$+ !+-

'a&''/a& a"&a ,d/! $b# ba! +a!&a a$/! /da!a ,!#a$a&' a+ba, "!/ba#a& a!&'a& $/&a+ da&

+!a&'+a

S&d!-* D-.& ba **&'a!/# -!a&' da$a* b!ba'a :a!a da& *a&'*a&' a+a& *&'a$a*

+b/,/#a& "!a.a,a& da& -a$ %a&' b!bda

Ada bb!a"a :!:! + %a&' a*a "ada a&a+a&a+ d&'a& &d!-* D-.& &a*/& +a!a+,!,+ da!

-!a&' ,/a da& +$/a!'a /'a b!"!a& da$a* "&a*"$a& + *!+a

'IRI-'IRI (ISI) ORAN* DEN*AN SINDROM DOWN YAN* PA+IN* MM ADA+A SEBA*AI 

 BERI)T

B!a, da& "a&a&' aa, $a#! d ba.a# !a,a!a,a

B!+/!a&'&%a ,'a&'a& -,-, "!, #"-,-&a

Ma,a *!&' + a,a da& + $/a!

T$a"a+ ,a&'a& #a&%a **$+ a,/ $"a,a& d/&' +:$ da& ,/$a&' #d/&' !a,a

A&,a!a a! +a+ "!,a*a da& +d/a ,!da"a, a!a+ %a&' $/a

M/$/, +:$

Ta&'a& $ba! d&'a& a!a! "&d+

B!,/b/# "&d+

L#! "&d+

9"a$a +:$

Lda# *&-&-$ +$/a!

B&,/+ ,$&'a ,da+ &-!*a$ a,a/ +:$

A&a+a&a+ d&'a& &d!-* D-.& /'a **$+ ,&'+a, +,da+*a*"/a& b$aa! da& #a*ba,a&

 "!,/*b/#a& %a&' b!bda a&,a!a a,/ a*a $a&

Bb!a"a "!+*ba&'a& "&,&' +ada&'+ada&' ,!+&a da*"a+&%a ,!*a/+ :a!a b!b:a!a b!a$a&

**ba:a b!+-*/&+a *!a# ba!a&' b!d! da& d/d/+

A&a+a&a+ d&'a& &d!-* D-.& *a# ba ,/*b/# &-!*a$ :a!a +-'&, da& -a$ .a$a/ "!- &

**b/,/#+a& .a+,/ $b# $a*a da!"ada a&a+ baa&%a

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#,,"3...a$-d-+,!:-*&d!-*d-.&

#,,"3!"-,-!%//a:db,,!a*1245678;166;4C#a",!20II"d 

#,,"3!"-,-!%//a:db,,!a*1245678;214644C#a",!20II"d 

#,,"3...+/&a!a:da,,a:#*&,529a!%a20I$*a#2020D-.&S%&T!"G&"d 

#,,"3"&%a+,'&,+%-$a,:-*!-/!:F$&+"d 

#,,"3$/"d/D!+,-!?PMIPAJURPENDBIOLOGI1;68050;1;;401

9USNADIBU9USA9UBIOLOGISMA9USNADId++9$aII4R"!-d/+S$REPRODU9SISEL@2"d 

#,,"3,a/a:d%,*$/!,/,&+*a,!a$*,-da&*-"d 

#,,"3,a/&%a:d,da/$,$+/$*,-0"d 

#,,"3$/"d/D!+,-!?PMIPAJURPENDBIOLOGI1;68050;1;;401

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