Sindrom Down

Liviany Holil 00000001201

Pembimbing :
dr. Faizah Nur Idris, Sp.A
Sindrom Down :
Definisi
Epidemiologi
Patofisiologi
Manifestasi klinis
Komplikasi
Skrining-Diagnosis
Tata Laksana
Prognosis
Definisi

Kelainan kongenital karena adanya

defek pada kromosom 21
Epidemiologi
Pembelahan sel
normal :

haploid + haploid
fertilisasi diploid
mitosis
Patofisiologi Nondisjunction Translokasi Mosaisisme
sindrom Sel gagal Translokasi Nondisjunction
Down berpisah tidak seimbang pada mitosis
menghasilkan menimbulkan sehingga
hasil replikasi kelainan fenotip menghasilkan 2
yang salah pada individu jenis sel
secara
berkelanjutan
Karakteristik
klinis
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
Resiko Resiko ALL 20x
lebih besar
Gangguan
myeloproliferatif
Keganasan transien

Leukositosis, sel blast

pada perifer, anemia,
Resiko AMKL trombositopenia
500x lebih besar Mutasi GATA1 dan
ERG
Gangguan fungsi hati
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
 Faktor Imun Faktor non-imun
Resiko
Infeksi Penurunan jumlah Kelainan anatomi
sel T dan B saluran napas
Ukuran timus kecil Tonus otot faring
Respon antibodi buruk
kurang Stenosis liang
IgA saliva rendah telinga luar
Jumlah NK sel Tuba eustasius
rendah sempit
Rendahnya
kemotaksis
neutrofil
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
 Subklinis Kongenital
Hipotiroid
TSH , T4 dan FT4 Makrosomia,
normal hipotoni, kurang
Klinis ringan aktif, fontanel
Resolusi dengan anterior besar,
sendirinya edema, jaundice
berkepanjangan,
hipotermia, letargi,
makroglosi, hernia
umbilikalis
Skrining : cek
kadar TSH
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
Disabilitas intelektual Laki-laki (%) Perempuan (%) Total (%)

Ringan 7.4 11.6 19

Sedang 19.1 10.7 29.8

Berat 17.6 15.7 33.1

Sangat berat 14.1 4.1 18.2

Keterangan : ringan (IQ 50-69), sedang (IQ 35-49), berat (IQ 20-34), sangat berat (IQ <20)

Maatta, dkk :
Kemampuan intelektual perempuan > laki-laki sindrom Down
50% penderita mengalami kesulitan bahasa dan komunikasi
Keberhasilan fisioterapi meningkat seiring peningkatan IQ
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
Komplikasi Kelainan jantung
kongenital
Resiko
Keganasan
Resiko infeksi

Faktor imun
Mutasi pada gen ALL Faktor non-
CRELD1 AMKL imun
AVSD Gangguan
VSD myeloproliferatif
ASD transien

Retardasi mental OSA Kelainan

saluran cerna
Hipotiroid Gangguan Perubahan
perkembangan morfologi Hirschprung
Subklinis otak Menurunkan Atresia
Kongenital IQ rendah fungsi kognitif duodenal
Alzheimer Gangguan Stenosis
memori duodenal
 Skrining Diagnosis
Skrining -
Diagnosis Usia ibu Sampel :
Trimester pertama amniosintesis,
Trimester ke-dua CVS, PUBS
Analisa sitogenetik
FISH
 Trimester pertama Trimester ke-dua
Skrining
USG Pada minggu ke
hCG 14-22
PAPP-A hCG
AFP
uE3
Inhibin A
Skrining USG hCG PAPP-A
trimester Dilakukan Dilakukan Dilakukan
pertama pada minggu pada pada
ke-12 gestasi minggu ke minggu ke
Mencari 9-10 9-10
adanya soft Kadar Kadar
marker : meningkat menurun
penebalan
nuchal
Skrining pada trimester ke-dua

Metode skrining Kemampuan deteksi (%)

Usia ibu 15
Usia ibu, AFP 37
Usia ibu, AFP, hCG (double test) 59
Usia ibu, AFP, hCG, uE3 (triple test) 65
Usia ibu, AFP, hCG, uE3, inhibin A
77
(quad test)
Keterangan : Usia ibu : 35 tahun, AFP (alfa fetoprotein), hCG (human chorionic gonadotropin), uE3
(unconjugated estradiol)
Diagnosis Amniosintesis CVS PUBS

Dilakukan Dilakukan Dilakukan

pada minggu pada pada
ke 14-18 minggu ke minggu ke
gestasi 9-11 18-22 gestasi

Sampel : air Sampel : sel Sampel :

ketuban plasenta darah bayi

Sifat invasif, Sifat invasif,

angka angka
keguguran : keguguran :
0,5% 1%
 Analisa sitogenetik FISH
Diagnosis
Melihat karyotip Hibridisasi kromosom
kromosom kromosom yang
tidak normal dapat
berpendar
 Saat Lahir Usia 1-12 bulan Usia 1-5 tahun
Tata
Pemeriksaan fisik Evaluasi tumbuh Evaluasi tumbuh
Laksana Analisa kromosom kembang kembang
Echocardiogram BERA Evaluasi mata
Pengukuran kadar Rencana operasi dan telinga
TSH Imunisasi Terapi bicara
Radiologi Fisioterapi gerak

Usia 5-13 tahun Usia remaja Bagi keluarga

Pencegahan Evaluasi Perkumpulan :

obesitas pubertas POTADS, ISDI
Hindari olahraga Edukasi tentang
berat Alzheimer dini
Terapi okupasi Rujukan pada
ahli kejiwaan
 Angka harapan Kapasitas fungsi
Prognosis hidup
Bergantung pada
88% hidup hingga tingkat IQ
usia 20 tahun Dilatih melalui
Dipengaruhi berbagai terapi
berbagai faktor :
penyakit jantung
bawaan
Kesimpulan Menimbulkan Angka
gangguan : kejadian
anomali fisik, meningkat
retardasi seiring
mental, peningkatan
Sindrom komplikasi usia ibu
Down : sistemik
kelainan
kongenital Komplikasi :
karena defek kelainan jantung,
kromosom 21 Patofisiologi : keganasan, infeksi,
(trisomi) nondisjunction, hipotiroid,
translokasi retardasi mental,
tidak gangguan tidur,
seimbang, gangguan saluran
mosaisisme cerna
Kesimpulan Diagnosis :
pengambilan
sampel
analisa
sitogenetik,
FISH

Skrining :
ultrasound
dan Tata laksana :
pengecekan jangka panjang
serum
maternal
Thanks!
Any questions?
You can find me at @username
and user@mail.me
 Menimbulkan
Sindrom Down :
gangguan :
kelainan
anomali fisik,
kongenital
retardasi
Kesimpulan karena defek
mental,
kromosom 21
komplikasi
(trisomi)
sistemik

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