Aspek Genetika Molekuler Pada Autism Spectrum Disorder (ASD) (Studi Pustaka).
ABSTRAK
ASPEK GENETlKA MOLEKULER PADA
AUTISM SPECTRUM DISORDER (ASD)
E. Dion P. Purba S., 2005. PEMBIMBING I: Hana Ratnawati, dr., M. Kes.
PEMBIMBING II: Teresa Liliana W., S. Si.
Autism Spectrum Disorder (ASD) atau lebih dikenal dengan autisme
merupakan gangguan perkembangan yang kompleks yang muncul pada tiga tahun
pertama dari kehidupan seorang anak. Prevalensi penderita ASD semakin
bertambah dari hari ke hari, bahkan melebihi perkiraan terdahulu. Gejala klinis
yang sering dijumpai pada penderita ASD adalah gangguan dalam interaksi sosial,
gangguan dalam berbicara dan berbahasa, serta perilaku yang stereotipik dan
repetitif. Etiologi pasti dari ASD sampai saat ini belum diketahui sebab banyak
faktor yang terlibat didalam ASD. Berbagai penelitian menduga bahwa faktor
genetik merupakan penyebab utama ASD. Kelainan genetik yang terjadi pada
penderita ASD mernpakan misteri yang harns dipecahkan bersama. Penelitianpenelitian pada penderita ASD memberikan beberapa gen kandidat. Kromosom
yang diduga kuat terkait ASD antara lain kromosom 2, 7, 15, 17, 18 dan X.
Beberapa gen yang mengalami mutasi yang sering dijumpai pada penderita ASD
antara lain cAMP-GFEII, SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl,
FOXP2, WNT2, RELN, HOXAl, AUTSl, CORTBP2, GATA3, GBRB3, GBRG3,
UBE3A, A TPlOC, SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4, dan FMRl. Akan
tetapi dari hasil penelitian-penelitian yang telah dilakukan belum juga dapat
ditentukan faktor genetik apa yang menjadi etiologi pasti ASD, bahkan sering
dijumpai adanya pertentangan dalam hasil penelitian yang didapatkan antar
kelompok peneliti. Oleh karena itu, berbagai penelitian di masa mendatang untuk
menentukan kelainan pada gen-gen penyebab ASD dengan menggunakan jumlah
sampel yang lebih besar sangat diharapkan. Apabila faktor- faktor genetik
penyebab ASD telah diketahui dengan pasti maka diagnosis, terapi dan
pencegahan ASD dapat dilakukan dengan baik.
IV
ABSTRACT
MOLECULAR
GENETIC ASPECT
in AUTISM SPECTRUM
(ASD)
DISORDER
E. Dion P. Purba S., 2005. TUTOR I: Hana Ratnawati, dr., M Kes.
TUTOR II: Teresa Liliana w., S. Si.
ASD (Autism Spectrum Disorder), popularly known as autism, is a complex
developmental disorder that appears during the first three years of a child's life.
Nowadays prevalency of ASD is becoming more common than predicted by
scientists. The clinical symptoms of ASD are among others disability in sosial
interaction, in speech and language, and repeated behaviors. Many factors are
involved in ASD and until today the exact etiology of ASD is unknown. Many
researchers suspect that genetic disorders are responsible for ASD. The genetic
disorder that is related to ASD remains a mystery and needs to be studied further.
Researches on people with ASD have offered several candidate genes.
Chromosome 2, 7, 15, 17, 18 and X have been identified with ASD. cAMP-GFEI/,
SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl, FOXP2, WNT2, RELN,
HOXAl, AUTSl, CORTBP2, GATA3, GBRB3, GBRG3, UBE3A, ATPI0C,
SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4, dan FMRI are ASD candidate genes
that have often been found in ASD patients. Unfortunately, the results of
researches that have been reported cannot predict the major factor in genetics
that may be the etiology of ASD. In fact, the resulst of researches that have been
made by various groups of reasearchers are often found to be contradictory.
Because of that, it is expected that researches in the future will be made with
broader samples to determine the genetic disorders. When the exact etiology of
ASD has been identified, we will be better able to find the proper diagnosis,
theraphy, and prevention of ASD.
v
DAFTAR ISI
Halaman
LEMBAR PERSETUJUAN
ii
SURAT PERNY ATAAN
iii
ABSTRAK
..iv
ABSTRACT
v
PRAKA
T A. .. .. . .. . . . . .. . . .. . .. . .. . .. . . . ... .. . . . . .. . .. . . .. .. . .. . .. . . .. . .. . .. . . . . . . . . . . . . . . ... vi
DAFTAR IS!
..viii
DAFTAR TABEL
BABI
BAB II
xi
PENDAHULUAN
...1
1.1.
Latar Belakang
..1
1.2.
Identifikasi Masalah
..1
1.3.
Maksud dan Tujuan
...1
1.4.
Manfaat Karya Tulis
... ...
TINJAUAN PUSTAKA
..2
...3
2.1. Autistic Spectrum Disorder (ASD)
... ... ...
3
2.1.1. Definisi ASD
...3
2.1.2. Prevalensi ASD
...4
2.1.3. Karakteristik Penderita ASD
...5
2.1.4. Etiologi ASD
...8
2.2. Faktor Genetik dan ASD
...
...10
2.2.1. Pengantar Genetika...
11
2.2.2. Penelitian Pada Keluarga dan Anak Kembar. . . . .. ...13
2.2.3. Skrining Genom
2.2.4. Gen-gen Kandidat
14
... ...
...16
2.2.4.1. Gen-gen Kandidat Posisional
..17
2.2.4.2. Gen-gen Kandidat Fungsional
.17
2.2.5. Kromosom-kromosom pembawa gen kandidat... ...17
Vlll
IX
2.2.5.1. Kromosom 1
.18
2.2.5.2. Kromosom 2
.18
2.2.5.3. Kromosom 3
.19
2.2.5.3.1. Gen GATJ...
...
20
2.2.5.4.2. Gen OXTR
..20
2.2.5.4. Kromosom 4
.20
2.2.5.5. Kromosom 5
.21
2.2.5.6. Kromosom 6
.21
2.2.5.7. Kromosom 7
.21
2.2.5.7.1. Gen FOXP2
...
2.2.5.7.2. Gen WNT2..
22
23
2.2.5.7.3. Gen RELN
.24
2.2.5.7.4. Gen-gen HOX
24
(HOXAl dan HOXB1)
2.2.5.8. Kromosom 10
2.2.5.9. Kromosom 11
25
... ...
25
2.2.5.10. Kromosom 12..
..25
2.2.5.11. Kromosom 13
.25
2.2.5.12. Kromosom 15
.26
2.2.5.12.1. Gen-gen GABA
.26
2.2.5.12.2. Gen UBE3A
..27
2.2.5.12.3. Gen ATP JOe
.28
2.2.5.13. Kromosom 16
.29
2.2.5.14. Kromosom 17...
.29
2.2.5.15. Kromosom 18
.30
2.2.5.16. Kromosom 19
.30
2.2.5.17. Kromosom 20
2.2.5.18. Kromosom 21
2.2.5.19. Kromosom 22...
2.2.5.20. Kromosom X
2.2.5.20.1. Gen MeCP2
...
.30
...
.30
... ...
.30
.31
32
x
2.2.5.20.2. GenNLGN3 danNLGN4
32
2.2.5.20.3. Gen FMRJ
33
2.5.6. Hipotesis Genetik Terbaru dari Etiologi ASD
.34
BABIII
PEMBAHASAN.
BABIV
KESIMPULAN DAN SARAN
.53
4.1. Kesimpulan... ...
53
. . .. . .. . .. . . .. . . .. .
.. . .. . . . . . ... .. . . . . . . . . . . . . .. . ...37
...
4.2. Saran
DAFTAR PUSTAKA
RIW
A Y A T HID UP.
.. .. . .. . .. . . . . . . . . .. . . . . . . .. . . . . . .. . . . . .. . . . . . . . . . .. . ..
..54
.55
. . . . . . . .. . . . 72
DAFTAR TABEL
Halaman
TabeI3.1. Gen-gen Kandidat ASD Pada Kromosom 2...
40
Tabel3.2. Gen-gen Kandidat ASD Pada Kromosom 3
41
Tabel3.3. Gen-gen Kandidat ASD Pada Kromosom 4
..41
TabeI3.4. Gen-gen Kandidat ASD Pada Kromosom 5
..42
Tabel3.5. Gen-gen Kandidat ASD Pada Kromosom 6
42
TabeI3.6. Gen-gen Kandidat ASD Pada Kromosom 7
... ...
42
TabeI3.7. Gen-gen Kandidat ASD Pada Kromosom 10
...
44
Tabel 3.8. Gen-gen Kandidat ASD Pada Kromosom 11
45
Tabel 3.9. Gen-gen Kandidat ASD Pada Kromosom 15
46
Tabel3.1O. Gen-gen Kandidat ASD Pada Kromsosom 16..
..46
Tabel 3.11. Gen-gen Kandidat ASD Pada Kromosom 17
47
Tabel 3.12. Gen-gen Kandidat ASD Pada Kromosom 18
47
Tabel 3.13. Gen-gen Kandidat ASD Pada Kromosom 19
48
Tabel 3.14. Gen-gen Kandidat ASD Pada Kromosom X
49
Tabel3.15. Gen-gen Kandidat Kuat ASD
Xl
...50
BABI
PENDAHULUAN
1.1. Latar Belakang
ASD (Autism Spectrum Disorder) atau yang lebih dikenal dengan sebutan
autisme merupakan gangguan perkembangan yang sangat kompleks dan berat,
dengan dugaan penyebab yang sangat bervariasi, serta gejala klinik yang biasanya
muncul pada tiga tahlm pertama dari kehidupan (Slamet Santosa, 2003). lumlah
anak penyandang ASD kian meningkat tajam di seluruh dunia termasuk di
Indonesia (Sri Utami Soedarsono Djamaluddin, 2003). Menurut data ASA
(Autism Society of America) Conference tahun 2000, prevalensi ASD menjadi 60
anak per 10.000 kelahiran, atau 1:250 anak. Sampai sekarang etiologi ASD belum
diketahui dengan pasti, nanmn diduga banyak faktor yang berperan di dalamnya,
antara lain penyulit kehamilan atau persalinan, infeksi virus, konsumsi obatobatan tertentu, polusi lingkungan, penggunaan thimerosal (merkuri) dalam
vaksin dan defisiensi nutrisi tertentu. Faktor-faktor tersebut bukanlah penyebab
utama ASD melainkan sebagai faktor pencetus ASD. Penyebab timbulnya ASD
adalah bila anak tersebut mempunyai faktor predisposisi genetik (Widura, 2003).
Oleh karena itu, penulis mengangkat permasalahan mengenai kelainan-kelainan
genetik pada penderita ASD untuk dibahas lebih lanjut.
1.2. Identifikasi Masalah
Bagaimanakah perkembangan mutakhir apek genetika molekuler pada ASD.
1.3. Maksud dan Tujuan
Maksud:
Untuk mengenal ASD lebih lanjut.
I
2
Tujuan:
Untuk mengetahui perkembangan penelitian-penelitian
genetika molekuler
pada ASD.
1.4. Manfaat Karya Tulis IImiah
Studi pustaka ini diharapkan dapat memberikan informasi-informasi terkini
berupa berbagai studi tentang kelainan-kelainan genetik pada ASD yang dapat
menjadi dasar pemikiran untuk diagnosis, terapi, dan pencegahan ASD yang lebih
baik.
BABIV
KESIMPULAN DAN SARAN
4.1. Kesimpulan
Penelitian yang dilakukan pada anak kembar dan pada keluarga penderita ASD
membuktikan adanya faktor genetik yang berperan dalam etiologi ASD. Penderita
ASD sangat beragam dengan fenotip yang bervariasi, mungkin fenotip yang sarna
dihasilkan oleh gen yang berbeda dan sebaliknya. Banyak didapatkan penderita
ASD dengan kelainan kromosom dan mutasi gen. Tidak seperti penyakit genetik
lainnya, ASD disebabkan oleh multipel gen (banyak gen yang berperan). Telah
banyak kelompok peneliti yang mempelajari kelainan genetika dari ASD, tetapi
hingga saat ini gen yang pasti terlibat dalam etiologi ASD belum diketahui.
Kelainan gen dan abnormalitas kromosom dari gejala klinis yang terdapat pada
penderita ASD memberikan petunujuk adallya lokus-lokus tertentu yang terlibat
dalam etiologi ASD. Penelitian yang telah dilakukan memberikan hasil tentang
lokus-lokus tertentu dari kromosom tertentu yang diduga merupakan gen kandidat
ASD, namun sering ditemukan hasil yang tidak konsisten antar kelompok peneliti
genetik ASD bahkan sering gen yang diduga terkait dengan ASD terbukti tidak
memiliki kaitan sama sekali dengan ASD. Oleh karena itu dibutuhkan penelitian
yang lebih jauh lagi. Penyebab lain yang menghambat mencari gen-gen suseptibel
dengan ASD adalah proses penemuan dan upaya konfirmasi gen-gen kandidat
yang memerlukan waktu yang panjang dan biaya yang besar.
Kromosom dan gen yang diduga banyak berhubungan kuat dengan ASD
hingga saat ini terletak pada kromosom 2, 7, 15, 17, 18 dan X. Gen-gen yang
diduga kuat terkait dengan ASD hingga saat ini antara lain cAMP-GEFII,
SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl, FOXP2, WNT2, RELN,
HOXAl, AUTSl, CORTBP2, GATA3, GABRB3, GABRG3, UBE3A, ATPlOC,
SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4 dan FMRl.
53
54
4.2. Saran
Meskipun penelitian terhadap struktur dan fungsi gen pada ASD sangat sulit,
penelitian untuk mencari etiologi pasti dari ASD harns terns dilanjutkan. Bila
etiologi genetik pasti dari ASD ditemukan, maka akan dapat ditegakkan diagnosis
pasti ASD sedini mungkin, terapi penderita ASD yang tepat, dan pencegahan
ASD sedini mungkin dengan lebih baik.
DAFT AR PUST AKA
Abdul Aziz. 2003. Terapi Okupasi Untuk Anak Autisme. Penatalaksanaan
Holistik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas KedokteranUniversitas Indonesia: 204 - 211.
Addington A. M., Gornick M., Sporn A. L., Gogtay N., Greenstein D., Lenane
M., et al. 2004. Polymorphism in The I3q33.2 Gene G27/G30 are Associated
with Childhood-onset Schizophrenia and Psychosis Not Otherwise Specified.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fe i?emd=Retrieve&db- ubmed&
dopt=Abstract&list uids= 15121480&itool=iconabstr. January 2nd,2005.
A. Adipumama.
2003.
Masalah Disbiosis Pada Autisme.
Penatalaksanaan
Holistik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas KedokteranUniversitas Indonesia: 326 - 330.
Anna Alisjahbana. 2003. Tanda-tanda Awal Dari Autisme. Makalah Lengkap
Konferensi Nasional Autisme I. Jakarta: PDSKJI, IDAI, dan PERDOSSI: 28
-34.
Assumpeao Junior F. B. 1998. Brief Report: a Case of Chromosome 22
Alteration
Associated
with
Autistic
Syndrome.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=9656137&itool=ieonabstr. September 1st,2004.
Auranen M., Varilo T., Alen R., Vanhala R., Ayers K., Kempas E., et al. 2003.
Evidence for Allelic Association on Chromosome 3q25-27 in Families with
Autism Spectrum Disorder Originating from a Sub isolate of Finland.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
st,
dopt=Abstract&list uids=14515138&itool=iconabstr. September 1 2004.
Autism Information Center.
2004.
About Autism.
http://www.cdc.gov.html.
September 1st, 2004.
Autism Society of America.
2004. Autism Info. http://autism-societv.org.html.
September 1st, 2004.
Bachelli E., Blasi F., Biondolillo M., Lamb J. A., Bonora E., Bamby G., et al.
2003. Screening of Nine Candidate Genes for Autism on Chromosome 2q
reveals rare non-synonymous variants in The camp-gejii Gene.
55
56
http://www.well.ox.ac.uk/~maestrin/chr2genes
September 1st,2004.
mp03 abstract.html.
Bah J., Quach H., Ebsetein R P., Segman RH., Melke J., Jamain S., et al. 2004.
Maternal Transmision Disliquibrium of The Glutamate Receptor GRIK2 in
Schizophrenia.httu:/ /www.ncbi.nlm.nih.gov/entrezJQuerv.fcgi?cmd=Retrieve&
db=pubmed&dopt=Abstract&list uids= 15305151 &itool=iconabstr.
January
2nd,2005.
Barber J., Ellis K. H., Bowles L. V., Delhanty J. D., Ede R F., Male B. M.,
and Eccles D. M. 1994. Adenomatous polyposis Coli and a Cytogenetic
deletion of Chromosome 5 Resulting from a Maternal lntrachromosomal
Insertion.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=8071957 &itool=iconabstr. December
Barlett C. W., Flax J. F., Logue M. W., Smith B. J., Vieland V. J., Tallal P.,
Brzustowicz L. M. 2004. Examination of Potential Overlap in Autism and
Language loci in Chromosome 2, 7, and 13 in Two Independent Samples
Ascertain
for
Spesific
Language
Impairment.
h ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15133308&itool=iconabstr. January
Beyer K. S., Blasi F., Bacchelli E., Klauck S. M., Maestrini E., Poutska A., and
International Molecular Genetic Study of Autism Consortium.
2002.
Mutation Analysis of The Coding Sequence of The MeCP2 Gene in Infantile
Autism. http://www.wel1.ox.ac. uk/~maestrin/bever2002abs.html.
September
1st,2004.
Beyer K. S., Klauck S. M., Blasi F., Bacchelli E., Benner A., Epps S., et al.
2002.
Candidate
Gene
Analysis
in
Autism.
http://www.well.ox.ac.uk/~maestrin/ashg2002 bever. September 1st,2004.
Bolton P., MacDonald H., Pickles A., Rios P., Goode S., Crowson M., and Bailey
R. M.
1994.
A Case-Control Family History Study of Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=7962246&itool=iconabstr. December 2nd,2005.
Bolton P. F., Veltman M. W., Weisblatt E., Holmes J. R., Thomas N. S.,
Youings S. A., et al. 2004. Chromosome 15q11-13 Abnormalities and Other
Medical Conditions in Individuals with Autism Spectrum Disorders.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15318025&itool=iconabstr. January 2nd,2005.
57
Bonora E., Bacchelli E., Levy E. R., Blasi F., Marlow A., Monaco A. P., et al.
2002. Mutation Screening and Imprinting Analysis of Four Candidate Genes
for
Autism
in
The
7q32
Region.
p.ttp:llwww.well.ox.ac.uk/~maestrin/bonoramp.html.
September 1st,2004.
Bonora E., Lamb J. A., Abbott A., Redhead N., Ragoussis 1., Bailey A. J., et al.
2003. Lingkage to The AUTS1 Locus and Analysis of Candidate Genes for
Autism on Chromosome 7q. http://www.well.ox.ac.uk/~maestrin/ashg2003.
September
1st, 2004.
Bonora E., Lamb J. A., Bamby G., Sykes N., Moberly T., Beyer K. S., et al.
2004. Mutation Screening and Association Analysis of Six Candidate Genes
for
Autism
on
Chromosome
7q.
htt ://www.ncbi.nlm.nih. ov/entrezi uer .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=14699429&itool=iconabstr. January
Bonora E., Lamb J. A., Beyer K., Klauck S. M., Poustka A. M., Bailey A. J., et
al.
2002.
Analysis
of
Reelin
in
Autism.
http://www.well.ox.ac.uk/~maestrin/ashg2002 bonora. September 1st,2004.
Bork P., Copley R. 2001. When is a Prediced Gene As a Gene. Nature (409).
London: Nature Publising Group. p. 819.
Borg 1., Squire M., Menzel C., Stout K., Morgan D., Willtat L., et al. 2002. A
Cryptic Deletion of 2q35 Including Part of The PAX3 Gene Detected by
Breakpoint Mapping in a Child with Autism and a De Novo 2;8 Translocation.
htt ://www.ncbi.nlm.nih. ov/entrezi ue .fc i?cmd=Retrieve&db= ubmed&
2na,2004.
dopt=Abstract&list uids=12070244&itool=iconabstr. December
Briegel W., Cohen M. 2004. Chromosome 22q11 Deletion Syndrome and Its
Relevance Psychiatry. An Overview of Etiology, Physical Symptoms, Aspect
of
Chid
Development
and
Psychiatric
Disorders.
htt ://www.nebLnlm.nih. ov/entrezi ue .fc i?emd=Retrieve&db= ubmed&
dopt=Abstraet&list uids= 15181786&itool=ieonabstr. January 2nd,2005.
Buxbaum J. D., Silverman J., Keddache M., Smith C. J., Hollander E., Ramoz
N., and Reichert J. G. 2004. Linkage Analysis for Autism in a Subset
Families with Obsessive-Compulsive Behaviors: Evidence for an Autism
Susceptibility
Genes
on
Chromosome
6
and
19.
htt ://www.ncbLnlm.nih. ov/entrezi ue .fe i?emd=Retrieve&db- ubmed&
dopt=Abstraet&list uids= 14699429&itool=iconabstr. January 2nd,2005.
58
Buxbaum J. d., Silverman J. M., Smith C. J., Greenberg D. A., Kilifarski M.,
Reichert J., et al. 2002. Association Between a GABRB3 Polymorphism and
Autism.htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- u
2nd,
bmed&dopt=Abstract&list uids= 11920 158&itool=iconabstr. December
2004.
Buxbaum J. D., Silverman J. M., Smith C. J., Kilifarski M., Reichert J.,
Hollander E., et al. 2001. Evidence for a Susceptibility Gene for Autism on
Chromosome
2
and
for
Genetic
Heterogeneity.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=I1353400&itool=iconabstr. December 2nd,2004.
Carratala F., Galan F., Moya M., Estivill X., Pritchard M. A., Lievadot R., et al.
1998. A Patient with Autistic Disorder and a 20 / 22 Chromosomal
Translocation.http://www.ncbi.nlm.nih.gov /entrez/query .fcgi ?cmd=Retrieve&
db=pubmed&dopt= Abstract&list uids=9698063&itool=iconabstr. September
1st, 2004.
Catherine
J.
1998.
The
Hunt
http://www2.umdni.edulforumwebIR1-oct-98.htm.
for
Autism
Genes.
September 1st, 2004.
Cheung J., Petek E., Nakabayashi K., Tsui L. c., Vincent J. B., Scherer S. w.
2001. Identification of The Human Cortactin-Binding Protein-2 Gene from
The
Autism
Candidate
Region
at
7q31.
htt ://www.ncbi.nlm.nih. ov/entreZ/ uer .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=11707066&itool=iconabstr. September 1 2004.
Cisterna F. A., Vincent J. B., Scherer S. W., Ray P. N. 2003. Cloning and
Characterization of Human CADPS and CADPS2, New Members of The
Ca2+-Dependent
Activator
for
Secretion
Protein
Family.
htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12659812&itool=iconabstr. September 1st, 2004.
Conciatori M., Stodgell C. J., Hyman S. L., O'Bara M., Militerni R., Bravaccio
C., et al. 2004. Association Between The HOXAI A218G Polymorphism and
Increased
Head
Circumference
in
Patient
with
Autism.
htt ://www.ncbi.nlm.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
doVt=Abstract&list uids=14960295&itool=iconabstr. January 2nd,2005.
Cook E. H., Lindgren V., Leventhal B. L., Courchesne R., Lincoln A., Shulman
C., et al. 1997. Autism or Atypical Autism in Maternally but not Paternally
59
Derived
15q
Duplication.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db=st, ubmed&
dopt=Abstract&list uids=9106540&itool=iconabstr. September 1 2004.
Craddock N., Lendon C. 1999. Chromosome Workshop: Chromosome 11, 14,
15.
and
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=10374739&itool=iconabstr. September
D' Adamo P., Bacchelli E., Blasi F., Peter L. H., Toniolo D., Maestrini E., and the
International Molecular Genetic Study of Autism Consortium (IMGSAC)4.
2004. DNA Variants in The Human RAB3A Gene Are Not Associated with
Autism. http://www.well.ox.ac.uk/~maestrin/rab3a abstract.html. January
2nd, 2005.
Diana Krisanti
Jasaputra.
2003.
Alergi Makanan Pada Anak Autis.
Penatalaksanaan Ho/istik Autisme. Edisi 1. Jakarta: Pusat Infonnasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 222 - 236.
.2003.
Gangguan Sistem Imun Pada Anak Autistik. Jurnal Kedokteran
Maranatha,2 (2): 94 - 104.
Duke Center for Human Genetics.
2004.
pdd.net/research.html. October 3rd,2004.
Autism.
http://www.autism-
EI-Hazmi M. A. F. 2001. Autism and Mental Retardation: The Genetic
Relationship
and
Contribution.
http://www .emro.who.int/publications/EMHJ/0703/ Autism.html.
September
st,
1 2004.
Fahsold R., Rott H. D., Claussen U., Schmalenberger B. 1991. Tuberous
Sclerosis in a Child with De Novo Translocation t(3;12) (p26.3;q23.3).
htt ://www.ncbLnlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=1756605&itool=iconabstr. September 1 2004.
Filipek P. A., Juranek J., Smith M., Mays L. Z., Ramos E. R., Bocian M., et al.
2003. Mithocondrial Dysfunction in Autistic Patient with 15q Inverted
Duplication.http://www .ncbLnlm.nih. gov/entrezJquery .fcgi?cmd=Retrieve&d
b=pubmed&dopt=Abstract&list uids= 12783428&itool=iconabstr. September
1st, 2004.
60
Flejter W. L., Baker P. E. B., Ghaziuddin M., McDonald M., Sheldon S., Gorski
J. L. 1996. Cytogenetic and Molecular Analysis of Inv Dup (15)
Chromosomes Observed in Two Patients with Autistic Disorder and Mental
Retardation.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=8669450&itool=iconabstr. September
Folstein S. E., Sheidley B. R. 2001. Genetic of Autism: Complex Aetiology for a
Disorder.
Heterogenous
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11733747&itool=iconabstr. September
Fields S. 2001. Proteomics in Genomeland. Science (291). p. 122 - 124.
Ghaziuddin M., Sheldon S., Tsai L. Y., Alessi N. 1993. Abnormalities of
Chromosome 18 in a Girl with Mental Retardation and Autistic Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db=st, ubmed&
dopt=Abstract&list uids=8334323&itool=iconabstr.September 1 2004.
Goizet C., Excoffier E., Taine L., Taupiac E., El Moniem A. A., Arvieler B., et
al. 2000. Case with Autistic Syndrome and Chromosome 22q13.3 Deletion
Detected
by
FISH.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=11121193&itool=iconabstr. September 1st,2004.
Goodman A. B. 1994. A Family History Study of Schizophrenia Spectrum
Disorders Suggets New Candidate Genes in Schizophrenia and Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=7831415&itool=iconabstr. September 1st,2004.
Hallmayer J., Hebert J. M., Spiker D., Lotspeich L., McMahon W. M., Petersen
P. B., et al. 1996. Autism and The X Chromosome. Multipoint Sib-Pair
Analysis.
htt ://www.ncbi.nlm.nih.
dopt=Abstract&list uids=7831415&itool=iconabstr.
September 1st,2004.
Hana Ratnawati. 2003. Leaky Gut Sebagai Penyebab Gangguan Gastrointestinal
Pada ASD. Jurnal Kedokteran Maranatha, 2 (2): 105 - 121.
61
. 2003. Leaky Gut Pada Autisme. Penatalaksanaan Ho/istik Autisme.
Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas KedokteranUniversitas Indonesia: 236 - 248.
Hardiono D. Pusponegoro. 2003. Pandangan Umum Mengenai Klasifikasi
Spektrum Gangguan Autistik dan Kelainan Susunan Saraf Pusat. Makalah
Lengkap Konferensi Nasional Autisme I. Jakarta: PDSKJI, IDAI, dan
PERDOSSI: 1 - 7.
Heiser P., Friedel S., Dempfle A., Konrad K., Smidt J., Grabarkiewicz J., et al.
2004.
Molecular Genetic Aspects of Attention-Deficit / Hyperactivity
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrez/ uer .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15527867&itool=iconabstr. January 2nd,2005.
Hutcheson H. 8., Olson L. M., Bradforf Y., Folstein S. E., Santangelo S. L.,
Sutcliffe J. S., and Haines J. L. 2004. Examination of NRCAM, LRRN3,
KIAA0716,
and
LAMB]
as
Autism
Candidate
Genes.
htt ://www.ncbi.n1m.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15128462&itool=iconabstr. January 2nd,2005.
Ika Widyawati. 2003. Manajemen Multidisiplin Pada Individu Dengan Autistic
Spectrum Disorder. Makalah Lengkap Konferensi Nasional Autisme [.
Jakarta: PDSKJI, IDAI, dan PERDOSSI: 61 - 66.
Iwan Muljadi, Khie Khiong, dan Teresa Liliana Wargasetia. 2004. Biologi Sel
dan Molekul. Bandung: Bagian Biologi Fakultas Kedokteran Maranatha: 4553.
Iwan Muljadi, Sylvia Soeng, dan Khie Khiong. 2003. Biologi Medik. Bandung:
Bagian Biologi Fakultas Kedokteran Maranatha: 23 - 29.
Iberall. 2004. Epigenetic. htto://pespmc1.vub.ac.be/ASC/EPIGENETIC.html
Jamain S., Betancur C., Quach H., Philippe A., Fellous M., Giros B., et al. 2002.
Linkage and Association of The Glutamate Receptor 6 Gene with Autism.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=11920157&itool=iconabstr. September 1 2004.
Jan S. Purba. 2003. Patogenesis Autisme: Menuju Tatalaksana Holistik dan
Terintegrasi. Penatalaksanaan Ho/istik Autisme. Edisi I. Jakarta: Pusat
62
Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 321 - 325.
2003. Pengaruh Imunobiologi Terhadap Perilaku Pada Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 386 - 389.
Jan Prasetyo. 2003. Gangguan Disruptif dan Sindroma Autistik Pada Anak.
Makalah Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI, IDAI,
dan PERDOSSI: 43 -47.
Jiang Y. H., Sahoo T., Michaelis R. C., Bercovich D., Bressler J., Kashork C.
D., et al. 2004. A Mixed Epigenetic / Genetic Model for Oligogenic
Inheritance
of Autism
with a Limited
Role
for UBE3A.
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstract&list uids=15389703&itool=iconabstr. January
Kaminen N., Jouppi K. H., Kestila M., Lehermo P., Muller K., Kaaranen M., et
al. 2003. A Genome Scan for Developmental Dyslexia Confirms Linkage to
Chromosome
2pll
and
Suggest
a New
Locus
on
7q32.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=12746395&itool=iconabstr. September 1 2004.
Kamnasaran D. 2003. Genetic Analysis of Psychiatric Disorder Associated with
Human
Chromosome
18.
htt ://www.ncbLnlm.nih. ov/entrezl uer .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=14690303&itool=iconabstr. September 1 2004.
Klauck S. M., Beyer K. S., Benner A., Poutska F., Poutska A., International
Molecular Genetic Study of Autism Consortium. 2000. Infantile Autism Fine Mapping of a Candidate Region on Chromosome 7q and Association
Studies
of
Candidate
Genes.
st,
http://www.well.ox.ac.ukI~maestrin/versilles.html. September 1 2004.
Klauck S. M., Poutska F., Benner, Spieler, Poutska A., International Molecular
Genetic Study of Autism Consortium. 1998. Searching for Susceptibility
Genes
for
Infantile
Autism.
st,
http://www.well.ox.ac.uk/~maestrin/bonnabs.html.
September 1 2004.
Klauck S. M., Munstermann E., Martig B. B., Rubl D., Lisch S., Schmotzer G.,
et al. 1997. Molecular Genetic Analysis of The FMR-1 Gene in a Large
Collection
of
Autistic
Patients.
63
htt ://www.nebi.nlm.nih. ov/entrezJ ue .fe i?emd=Retrieve&db=SI, ubmed&
dopt=Abstract&list uids=9254854&itool=iconabstr.September 1 2004.
Kolevsozon A., Smith C. J., Sehmeidler J., Buxbaum J. D., Silvem1an J. M.
2004. Familial Symptom Domain in Monozygotic Siblings with Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?emd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=15274045&itool=iconabstr. September 1 2004.
Krisnadi Y.
2002.
Autisme: Ramai Tersesat di
http://www.gatra.com/2003-05-12/versi cetak.php?id=28313.
2004.
Kota Asing.
1 September
Kroisel P. M., Windpassinger C., Wagner K., Petek E., Vincent J. B., Scherer S.
W., et al. 2004. De Novo Translocation t95;180 9q33.1;q12.10 Associated
with
Autistic
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15266626&itool=iconabstr. January 2nd,2005.
Lassig J. P., Vachirasomtoon K., Hartzell K., Leventhal M., Courchesne E.,
Courchesne R., et al. 1999. Physical Mapping of The Serotonin 5-HT(7)
Receptor Gene (HTR7) to Chromosome 10 and Pseudogene (HTR7P) to
Chromosome 12, and Testing of Linkage Disequilibrium Between HTR7 and
Disorder.
Autistic
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=10490701&itool=iconabstr. October 2nd,2004.
Liu J., Nyholt D. R. Magnussen P., Parano E., Pavone P., Geschwind D., et ale
2001.
A Genomewide Screen for Autism Susceptibility
Loci.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=11452361&itool=iconabstr. October 2nd,2004.
Machmud. 2003. Strategi: Pengembangan Kemampuan Anak Autisme Secara
Terpadu.
Penatalaksanaan
Holistik Autisme.
Edisi 1. Jakarta:
Pusat
Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 165 - 171.
MacLaen J. E., Teshima I. E., Szatmari P., Nowaczyk M. J. 2000. Ring
Chromosome
22
and
Autism:
Report
and
Review.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=10706359&itool=iconabstr. October 2nd,2004.
64
Maestrini E. 1998. Linkage Disequilibrium Mapping and Candidate Gene
http://www.well.ox.ac.uk/~maestrin/ashg1998.html.
Analysis of Autism.
September 1st, 2004.
. 1999. Search for Autism Susceptibility Loci: Genome Screen FollowUp and Fine Mapping of a Candidate Region on Chromosome
7q.
st,
http://www.well.ox.ac.uk/~maestrin/ashgI999.html.
September 1 2004.
. 2001. Analysis of Candidate Genesfor Autism on Chromosome 7q,2q,
September 1st,
and 16p. http://www.well.ox.ac.uk/~maestrin/ashg2001.html.
2004.
Maestrini E., Bacchelli E., Blasi F., Biondolilo M., Bailey A. J., Monaco A. P.,
and the International Molecular Genetic Study of Autism Consortium. 2002.
Analysis of Nine Candidate Genes for Autism on Chromosome
2q.
st,
http://www.well.ox.ac.uk/~maestrin/ashg2002.html. September 1 2004.
Maestrini E., Lai C., Marlow A., Matthews N., Wallace S., Bailey A., et al. 1999.
Serotonin Transporter (5-HTT) and Gamma-Aminobuyric Acid Receptor
Subunit (GARBRB3) Gene Polymorphism Are Not Associated with Autism in
The
IMGSA
families.
http://www.well.ox.ac.uk/~maestrin/abs2.html.
September
1st, 2004.
Mahr R. N., Moberg P. J., Overhauser J., Strathdee G., Kamholtz J., Loevner L.
A.,
et
al.
1996.
Neuropsychiatry
of
18q-Syndome.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
2nd,2004.
dopt=Abstract&list uids=8723044&itool=iconabstr. October
Manning M. A., Cassidy S. B., Clericuzio c., Cherry A. M., Schwartz S.,
Hudgins L., et al. 2004. Terminal 22q Deletion Syndrome: a Newly
Recognized Cause of Speech and Language Disability in The Autism
Spectrum.
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
2nd,2005.
dopt=Abstract&list uids=15286229&itool=iconabstr. January
McCauley J. L., Olson L. M., Delahayanty R., Amin T., Nunni E. L., Organ E.
L., et al. 2004. A Linkage Disequilibrium Map of The I-Mb 15q12 GABA(A)
Receptor
Subunit
Cluster
and
Association
to
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15389769&itool=iconabstr. January
McCoy P. A., Shao Y.,Wolpeet C. M., Donnelly S. D., Koch A. A., Abel H.
L., et al. 2002. No Association Between The WNT2 Gene and Autistic
Disorder.
65
htt ://www.ncbi.nlm.nih. ov/entrezJ uer .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11840514&itool=iconabstr. September
Meilinah Hidayat.
2003.
Jalan Berliku Menuju Kepulihan Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi clan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 289 - 302.
. 2003. Pulih Dari Autisme. Jurnal Kedokteran Maranatha, 2 (2):
122
-131.
Michaelis R. C., Skinner S. A., Deason R., Skinner C., Moore C. L., Phelan M.
C. 1997. Intersitial Deletion of 20p: New Candidate Regionfor Hirschprung
Disease
and
Autism.
htt ://www.ncbLnlm.nih. ov/entrezJ uer .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=9268100&itool=iconabstr. September
Miranda K. N., Murch A., Petterson B., Hill W., Hill A. N., Bradley L., et al.
2004. An Investigation Into Sub-Teloremic Deletions of Chromosome 22 and
Pervasive
Developmental
Disorders.
htt ://www.ncbi.n1m.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=14755453&itool=iconabstr. January 2nd,2005.
Murayama K., Greenwood R. S., Rao K. W., Aylsworth A. S. 1991.
Neurological
Aspects
of
Del(Iq)
Syndrome.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=1746617&itool=iconabstr. September 1st,2004.
National
Alliance
for
Autism
Research.
http://www.eksploringautism.com.html.
2004.
Exploring
1st,2004.
September
Autism.
The National Autistic Society. 2004. About Autistic Spectrum Disorder.
http://www.nas.org.html. September 1st,2004.
Nasr A., Roy M. 2000. Association of a Balanced Chromosomal Translocation
Autism.
and
Disorder
Affective
(q21.3;q15),
(4; 12)
htt ://www.ncbi.nlm.nih.
i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=10898381&itool=iconabstr. September 1 2004.
66
Newbury D. F., Bonora E., Lamb J. A., Fisher S. E., Lai C. S., Baird G., et al.
2002. FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific
Impairment.
Lenguage
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11894222&itooI=iconabstr. September
Nikiasson L., Rasmussen P., Oskarsdottir S., Gillberg C. 2001. Neuropsychiatric
in
The
22qll
Deletion
Syndrome.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st,ubmed&
dopt=Abstract&list uids=I1339385&itooI=iconabstr. September 1 2004.
2002.
Chromosome 22qll Deletion Syndrome (CATCH 22):
Neuropsychiatric
and
Neuropsychological
Aspects.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11811651&itool=iconabstr. September
Ogilvie C. M., Moore J., Daker M., Palferman S., Docherty Z. 2000.
Chromosome 22qll Deletion Are Not Found in Autistic Patients Identified
Using Strict Diagnostic Criteria. IMGSA C. International Molecular Genetic
Study
of
Autism
Consortium.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=10686546&itooI=iconabstr. September 1 2004.
Oja T. Y., yon Wendt T. N., Kempas E., Sarenius S., Varilo T., yon Wendt L., et
al.
2004. Genome-wide Scan for Loci of Asperger Syndrome.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=14966474&itooI=iconabstr. January 2nd,2005.
Oja T. Y., Janvid M. P., Lindberg C. M., Rehnstrom K., Vanhaia R., Peltonen
L., et al. 2004. Family-Based Association Study of DYXICI Variants in
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15470369&itooI=iconabstr. January 2nd,2005.
Online Mendelian Inheritance in Man.
2004.
Autistic Disorder.
http://www.ncbi.nIm.nih.~ov/entrezidispomim.cgi?id=209850 . October 3rd,
2004.
Persico A. M., Militerni R., Bravaccio C., Schneider C., Melmed R., Conciatori
M., et al. 2000. Lack of Association Between Serotonin Transporter Gene
Promoter Variants and Autistic Disorder in Two Ethnically Distinct Samples.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&Iist uids=10686565&itooI=iconabstr. September 1st,2004.
67
Persucci C., Meloni I., Bruttini M., Ariani F., Longo I., Mari F., et al. 2003.
Chromosome 2 Deletion Encompassing The MAP2 Gene in a Patient with
Autism
and
Rett-like
Features.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db=1st,2004.
ubmed&
dopt=Abstract&list uids=14986829&itool=iconabstr. September
Pleyte, W. EdithHumris. 2003. Autisme dan Retardasi Mental. Makalah
Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI, IDAI, dan
PERDOSSI: 117 - 124.
Prassad c., Prasad A. N., Chodirker B. N., Lee C., Dawson A. K., Jocelyn L. J.,
and Chudley A. E. 2000. Genetic Evaluation of Pervasive Developmental
Disorders: The Terminal 22q13 Deletion Syndrome may Represent a
Phenotype.
Recognizable
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- st,ubmed&
dopt=Abstract&list uids=10735630&itool=iconabstr. September 1 2004.
Rabionet R., Jaworski J. M., Koch A. E. A., Martin E. R., Sutcliffe J. S.,
Haines J. L., et al. 2004. Analysis of The Chromosome 2 Linkage Region:
GAD 1
and
Other
Candidate
Genes.
htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15542242&itool=iconabstr. January
Raiford K. L., Shan Y., Allen I. c., Martin E. R., Menold M. M., Wright H. H.,
et al. 2004. No Association Between The APOE Gene and Autism.
htt ://www.ncbi.nlm.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=14755445&itool=iconabstr. January
Ramanathan S., Woodroffe A., Flodman P. L., Mays L. Z., Hanouni M., Modahl
C. B., et al. 2004. A Case of Autism with an Interstitial Deletion on 4q
Leading to Hemizygosity for Genes Encoding for Glutamine and Glycine
Neurotransmitter Receptor Sub-Units (AMPA2, GLRA3, GLRB) and
Neuropeptide
Receptors
NPYIR,
NPY5R.
h ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids= 15090072&itool=iconabstr. January 2nd,2005.
Ramoz N., Reichert J. G., Smith C. J., Silverman J. M., Bespalova I. N., Davis
K. L., and Buxbaum J. D. 2004. Linkage and Association of The
Mitochondrial Aspartate / Glutamate Carrier SLC25A12 Gene with Autism.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15056512&itool=iconabstr. January 2nd,2005.
68
Roubertie A., Semprino M., Chaze A. M., Rivier F., Humbertclaude V.,
Cheminal R., et al. 2001. Neurological Presentation of Three Patients with
22qIl
Deletion
(CATCH
22
Syndrome).
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db=
ubmed&
2nd,2004.
dopt=Abstract&list uids=11720799&itool=iconabstr. October
Rudy Sutadi. 2003. Intervensi Biomedis Pada Masalah Perilaku Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Infonnasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 390 - 413.
Rudy Sutandi. 2003. Kata Sambutan. Penatalaksanaan Holistik Autisme. Edisi
1. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas Kedokteran Universitas Indonesia: ix - x.
Sabaratnam M., Turk J., Vreogop P. 2000. Case Repor: Autistic Disorder and
Chromosomal
Abnormality
46,
XX
Duplication
(4) pI2-13.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=11202107&itool=iconabstr. October
Sasanti Yuniar. 2003. Masalah perilaku Pada Gangguan Spektrum Autisme
(GSA). Makalah Lengkap Konferensi Nasional Autisme I. Jakarta: PDSKJI,
IDAI, dan PERDOSSI: 35 - 42.
Sauter S., yon Beust G., Burfeind P., Weise A., Starke H., Liehr T., and Zoll B.
2003. Autistic Disorder and Chromosomal Mosaicism 46, XX [123J / 46, XY,
Del
(20)
(pter
-7
pI2.2)
[1 OJ.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12884434&itool=iconabstr. October 2nd,2004.
Schroer R. J., Phelan M. C., Michaelis R. C., Crawford E. c., Skinner S. A.,
Cuccaro M., et al. 1998. Autism and Maternally Derived Aberrations of
15q.
Chromosome
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=9545097 &itool=iconabstr. October 2nd,2004.
Sheidley
B.
R.
2004.
Genetic
Factor
in
Autism.
http://www.autismtodav.comlarticles/Genetic Factors in Autism.html.
October 3rd,2004.
Shim S. H., Pan A., Huang X. L., Tonk V. S., Varma S. K., Milunsky J. M.,
and Wyandt H.
E.
2003.
FISH Variants with D15Z1.
69
htt ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2004.
dopt=Abstraet&list uids=15213412&itool=ieonabstr. October
Skaar D. A., Shao Y., Haines J. L., Stenger J. E., Jaworski J., Martin E. R., et
al. 2004. Analysis of The RELN Gene as a Genetic Risk Factor for Autism.
htt ://www.nebLnlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstraet&list uids=15558079&itool=ieonabstr. January
Slamet Santosa. 2003. Pengaruh Logam Berat pada Autisme. Penatalaksanaan
Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas Kedokteran Universitas Indonesia: 24 - 34.
2003. Peran Metallothionein Pada Autisme.
Maranatha, 2 (2): 86 - 93.
Jurnal Kedokteran
Sri Utami Soedarsono Djamaluddin. 2003. Model Layanan Pendidikan Anak
Autistik. Penatalaksanaan Holistik Autisme.
Edisi 1. Jakarta:
Pusat
Infonnasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 420 - 433.
. 2003. Penyesuaian Pendidikan Anak Autistik Berdasarkan Karakter
Anak. Makalah Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI,
IDAI, dan PERDOSSI: 268 - 278.
Stone J. L., Merriman B., Cantor R. M., Yonan A. L., Gilliam T. C., Gesehwind
D. H., and Nelson S. F. 2004. Evidance for Sex-Spesific Risk Alleles in
Disordrer.
Spectrum
Autism
h ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstraet&list uids=1546783&itool=ieonabstr. January
Sultana M. H. Faradz. 2003. Genetic Evaluation of Autism With Special
Reference to Fragile-X Syndrome. Makalah Lengkap Konferensi Nasional
Autisme I. Jakarta: PDSKJI, IDAI, dan PERDOSSI: 8 - 16.
Tender D., Brandberg G., Betaneur C., Gillberg C., Anneren G., Orsmark C., et
al. 2001. A Balanced Reciprocal Translocation t(5;7) (q14;q32) Associated
with Autistic Disorder: Molecular Analysis of The Chromosome 7 Breakpoint.
htt ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2004.
dopt=Abstraet&list uids=11803521&itool=ieonabstr. October
Teresa Liliana
Wargasetia.
2003.
Aspek Genetika
Pada Autisme.
Penatalaksanaan Ho/istik Autisme.
Edisi 1. Jakarta: Pusat Infonnasi dan
70
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 13 - 23.
. 2003. Perkembangan Mutakhir Genetika Biomolekuler Pada Autisme.
Jurnal KedokteranMaranatha, 2 (2): 73 - 85.
Thomas H., Wassink M. D. 2002. Genetics in Psychiatry: The Case of Autism.
http://www.uihealthcare.com/news/currents/vo1.3 issue2/07 autism.html.
September 1S\ 2004.
Tjut Meura Salma Oobit Edi. 2003. Diagnosis Dini Autisme. Penatalaksanaan
Ho/istik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas Kedokteran Universitas Indonesia: 9 - 12.
vanDerWeele J. V., Christian S. L., Cook E. H. 2004. Autism as a
Paradigmatic
Complex
Genetic
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15485354&itool=iconabstr. January 2nd,2005.
vanDerWeele J. V., Cook E. H. 2003. Genetics of Childhood Disorder.
http://pediatrics.aappublications.org/cgi/content/abstract/ 113/5/e4 72.
September 1S\ 2004.
2004.
Molecular
Genetics
of
Autism
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15197396&itool=iconabstr. January 2nd,2005.
Verri A., Maraschio P., Devriendt K., Uggetti C., Spadoni E., Haeusler E., and
Federico A.
2004.
Chromosome 10p Deletion in a Patient with
Hypoparathyroidism, Severe Mental Retardation, Autism and Basal Ganglia
Calsifications .http://www.ncbi.nlm.nih.gov/entrezJquerv .fcgi?cmd=Retrieve&
db=pubmed&dopt=Abstract&list uids= 15337474&itool=iconabstr.
January
2nd,2005.
Vincent J. B., Kolozsvari D., Roberts W. S., Bolton P. F., Gurling H. M.,
Schere S. W. 2004. Mutation Screening of X-Chromosomal Neuro/igin
Genes:
No
Mutations
in
196
Autism
Probands.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15274046&itool=iconabstr. January 2nd,2005.
Wassink T. H., Piven J., Vieland V. J., Goedken R. J., Foistein S. E., Sheffield
V. C. 2002. Evaluation of FOXP2 as an Autism Susceptibility Gene.
71
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids= 12116195&itool=iconabstr. October
Weiss L. A., Escayg A., Kearney J. A., Trudeau M., MacDonald B. T., Mori M.,
Reichert J., et al. 2003. Sodium Channels SCNIA, SCN2A and SCN3A in
Autism.
Familial
htt ://www.ncbi.n1m.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=12610651&itool=iconabstr. October
Wenger S. L., Steele M. W., Becker D. J. 1988. Clinical Consequences of
1p3 5.
Deletion
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fe i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=3367353&itool=iconabstr. October 2nd,2004.
Widura. 2003. Aspek Imunologi Autoimunitas pada Autisme dan Pengobatannya
dengan Imunologi G intravena (IVIG). Penatalaksanaan Holistik Autisme.
Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas Kedokteran Universitas Indonesia: 139 - 143.
. 2003.
Faktor-faktor Pencetus Autism Spectrum Disorder (ASD).
Jurnal KedokteranMaranatha, 2 (2): 64 - 72.
Yamagata T., Aradhya S., Mori M., Inoue K., Momoi M. Y., Nelson D. L. 2002.
The Human Secretin Gene: Fine Strusture in Ilp15.5 and Sequence Variation
in
Patients
with
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fe i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12160732&itool=iconabstr. October 2nd,2004.
Yonan A. L., Alarcon M., Cheng R., Magnusson P. K., Spence S. J., Palmer A.
A., et al. 2003. A Genomewide Screen of 345 Families for AutismSusceptibility
Loci.htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubm
ed&dopt=Abstract&list uids= 13680528&itool=iconabstr. October 2nd,2004.
ASPEK GENETlKA MOLEKULER PADA
AUTISM SPECTRUM DISORDER (ASD)
E. Dion P. Purba S., 2005. PEMBIMBING I: Hana Ratnawati, dr., M. Kes.
PEMBIMBING II: Teresa Liliana W., S. Si.
Autism Spectrum Disorder (ASD) atau lebih dikenal dengan autisme
merupakan gangguan perkembangan yang kompleks yang muncul pada tiga tahun
pertama dari kehidupan seorang anak. Prevalensi penderita ASD semakin
bertambah dari hari ke hari, bahkan melebihi perkiraan terdahulu. Gejala klinis
yang sering dijumpai pada penderita ASD adalah gangguan dalam interaksi sosial,
gangguan dalam berbicara dan berbahasa, serta perilaku yang stereotipik dan
repetitif. Etiologi pasti dari ASD sampai saat ini belum diketahui sebab banyak
faktor yang terlibat didalam ASD. Berbagai penelitian menduga bahwa faktor
genetik merupakan penyebab utama ASD. Kelainan genetik yang terjadi pada
penderita ASD mernpakan misteri yang harns dipecahkan bersama. Penelitianpenelitian pada penderita ASD memberikan beberapa gen kandidat. Kromosom
yang diduga kuat terkait ASD antara lain kromosom 2, 7, 15, 17, 18 dan X.
Beberapa gen yang mengalami mutasi yang sering dijumpai pada penderita ASD
antara lain cAMP-GFEII, SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl,
FOXP2, WNT2, RELN, HOXAl, AUTSl, CORTBP2, GATA3, GBRB3, GBRG3,
UBE3A, A TPlOC, SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4, dan FMRl. Akan
tetapi dari hasil penelitian-penelitian yang telah dilakukan belum juga dapat
ditentukan faktor genetik apa yang menjadi etiologi pasti ASD, bahkan sering
dijumpai adanya pertentangan dalam hasil penelitian yang didapatkan antar
kelompok peneliti. Oleh karena itu, berbagai penelitian di masa mendatang untuk
menentukan kelainan pada gen-gen penyebab ASD dengan menggunakan jumlah
sampel yang lebih besar sangat diharapkan. Apabila faktor- faktor genetik
penyebab ASD telah diketahui dengan pasti maka diagnosis, terapi dan
pencegahan ASD dapat dilakukan dengan baik.
IV
ABSTRACT
MOLECULAR
GENETIC ASPECT
in AUTISM SPECTRUM
(ASD)
DISORDER
E. Dion P. Purba S., 2005. TUTOR I: Hana Ratnawati, dr., M Kes.
TUTOR II: Teresa Liliana w., S. Si.
ASD (Autism Spectrum Disorder), popularly known as autism, is a complex
developmental disorder that appears during the first three years of a child's life.
Nowadays prevalency of ASD is becoming more common than predicted by
scientists. The clinical symptoms of ASD are among others disability in sosial
interaction, in speech and language, and repeated behaviors. Many factors are
involved in ASD and until today the exact etiology of ASD is unknown. Many
researchers suspect that genetic disorders are responsible for ASD. The genetic
disorder that is related to ASD remains a mystery and needs to be studied further.
Researches on people with ASD have offered several candidate genes.
Chromosome 2, 7, 15, 17, 18 and X have been identified with ASD. cAMP-GFEI/,
SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl, FOXP2, WNT2, RELN,
HOXAl, AUTSl, CORTBP2, GATA3, GBRB3, GBRG3, UBE3A, ATPI0C,
SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4, dan FMRI are ASD candidate genes
that have often been found in ASD patients. Unfortunately, the results of
researches that have been reported cannot predict the major factor in genetics
that may be the etiology of ASD. In fact, the resulst of researches that have been
made by various groups of reasearchers are often found to be contradictory.
Because of that, it is expected that researches in the future will be made with
broader samples to determine the genetic disorders. When the exact etiology of
ASD has been identified, we will be better able to find the proper diagnosis,
theraphy, and prevention of ASD.
v
DAFTAR ISI
Halaman
LEMBAR PERSETUJUAN
ii
SURAT PERNY ATAAN
iii
ABSTRAK
..iv
ABSTRACT
v
PRAKA
T A. .. .. . .. . . . . .. . . .. . .. . .. . .. . . . ... .. . . . . .. . .. . . .. .. . .. . .. . . .. . .. . .. . . . . . . . . . . . . . . ... vi
DAFTAR IS!
..viii
DAFTAR TABEL
BABI
BAB II
xi
PENDAHULUAN
...1
1.1.
Latar Belakang
..1
1.2.
Identifikasi Masalah
..1
1.3.
Maksud dan Tujuan
...1
1.4.
Manfaat Karya Tulis
... ...
TINJAUAN PUSTAKA
..2
...3
2.1. Autistic Spectrum Disorder (ASD)
... ... ...
3
2.1.1. Definisi ASD
...3
2.1.2. Prevalensi ASD
...4
2.1.3. Karakteristik Penderita ASD
...5
2.1.4. Etiologi ASD
...8
2.2. Faktor Genetik dan ASD
...
...10
2.2.1. Pengantar Genetika...
11
2.2.2. Penelitian Pada Keluarga dan Anak Kembar. . . . .. ...13
2.2.3. Skrining Genom
2.2.4. Gen-gen Kandidat
14
... ...
...16
2.2.4.1. Gen-gen Kandidat Posisional
..17
2.2.4.2. Gen-gen Kandidat Fungsional
.17
2.2.5. Kromosom-kromosom pembawa gen kandidat... ...17
Vlll
IX
2.2.5.1. Kromosom 1
.18
2.2.5.2. Kromosom 2
.18
2.2.5.3. Kromosom 3
.19
2.2.5.3.1. Gen GATJ...
...
20
2.2.5.4.2. Gen OXTR
..20
2.2.5.4. Kromosom 4
.20
2.2.5.5. Kromosom 5
.21
2.2.5.6. Kromosom 6
.21
2.2.5.7. Kromosom 7
.21
2.2.5.7.1. Gen FOXP2
...
2.2.5.7.2. Gen WNT2..
22
23
2.2.5.7.3. Gen RELN
.24
2.2.5.7.4. Gen-gen HOX
24
(HOXAl dan HOXB1)
2.2.5.8. Kromosom 10
2.2.5.9. Kromosom 11
25
... ...
25
2.2.5.10. Kromosom 12..
..25
2.2.5.11. Kromosom 13
.25
2.2.5.12. Kromosom 15
.26
2.2.5.12.1. Gen-gen GABA
.26
2.2.5.12.2. Gen UBE3A
..27
2.2.5.12.3. Gen ATP JOe
.28
2.2.5.13. Kromosom 16
.29
2.2.5.14. Kromosom 17...
.29
2.2.5.15. Kromosom 18
.30
2.2.5.16. Kromosom 19
.30
2.2.5.17. Kromosom 20
2.2.5.18. Kromosom 21
2.2.5.19. Kromosom 22...
2.2.5.20. Kromosom X
2.2.5.20.1. Gen MeCP2
...
.30
...
.30
... ...
.30
.31
32
x
2.2.5.20.2. GenNLGN3 danNLGN4
32
2.2.5.20.3. Gen FMRJ
33
2.5.6. Hipotesis Genetik Terbaru dari Etiologi ASD
.34
BABIII
PEMBAHASAN.
BABIV
KESIMPULAN DAN SARAN
.53
4.1. Kesimpulan... ...
53
. . .. . .. . .. . . .. . . .. .
.. . .. . . . . . ... .. . . . . . . . . . . . . .. . ...37
...
4.2. Saran
DAFTAR PUSTAKA
RIW
A Y A T HID UP.
.. .. . .. . .. . . . . . . . . .. . . . . . . .. . . . . . .. . . . . .. . . . . . . . . . .. . ..
..54
.55
. . . . . . . .. . . . 72
DAFTAR TABEL
Halaman
TabeI3.1. Gen-gen Kandidat ASD Pada Kromosom 2...
40
Tabel3.2. Gen-gen Kandidat ASD Pada Kromosom 3
41
Tabel3.3. Gen-gen Kandidat ASD Pada Kromosom 4
..41
TabeI3.4. Gen-gen Kandidat ASD Pada Kromosom 5
..42
Tabel3.5. Gen-gen Kandidat ASD Pada Kromosom 6
42
TabeI3.6. Gen-gen Kandidat ASD Pada Kromosom 7
... ...
42
TabeI3.7. Gen-gen Kandidat ASD Pada Kromosom 10
...
44
Tabel 3.8. Gen-gen Kandidat ASD Pada Kromosom 11
45
Tabel 3.9. Gen-gen Kandidat ASD Pada Kromosom 15
46
Tabel3.1O. Gen-gen Kandidat ASD Pada Kromsosom 16..
..46
Tabel 3.11. Gen-gen Kandidat ASD Pada Kromosom 17
47
Tabel 3.12. Gen-gen Kandidat ASD Pada Kromosom 18
47
Tabel 3.13. Gen-gen Kandidat ASD Pada Kromosom 19
48
Tabel 3.14. Gen-gen Kandidat ASD Pada Kromosom X
49
Tabel3.15. Gen-gen Kandidat Kuat ASD
Xl
...50
BABI
PENDAHULUAN
1.1. Latar Belakang
ASD (Autism Spectrum Disorder) atau yang lebih dikenal dengan sebutan
autisme merupakan gangguan perkembangan yang sangat kompleks dan berat,
dengan dugaan penyebab yang sangat bervariasi, serta gejala klinik yang biasanya
muncul pada tiga tahlm pertama dari kehidupan (Slamet Santosa, 2003). lumlah
anak penyandang ASD kian meningkat tajam di seluruh dunia termasuk di
Indonesia (Sri Utami Soedarsono Djamaluddin, 2003). Menurut data ASA
(Autism Society of America) Conference tahun 2000, prevalensi ASD menjadi 60
anak per 10.000 kelahiran, atau 1:250 anak. Sampai sekarang etiologi ASD belum
diketahui dengan pasti, nanmn diduga banyak faktor yang berperan di dalamnya,
antara lain penyulit kehamilan atau persalinan, infeksi virus, konsumsi obatobatan tertentu, polusi lingkungan, penggunaan thimerosal (merkuri) dalam
vaksin dan defisiensi nutrisi tertentu. Faktor-faktor tersebut bukanlah penyebab
utama ASD melainkan sebagai faktor pencetus ASD. Penyebab timbulnya ASD
adalah bila anak tersebut mempunyai faktor predisposisi genetik (Widura, 2003).
Oleh karena itu, penulis mengangkat permasalahan mengenai kelainan-kelainan
genetik pada penderita ASD untuk dibahas lebih lanjut.
1.2. Identifikasi Masalah
Bagaimanakah perkembangan mutakhir apek genetika molekuler pada ASD.
1.3. Maksud dan Tujuan
Maksud:
Untuk mengenal ASD lebih lanjut.
I
2
Tujuan:
Untuk mengetahui perkembangan penelitian-penelitian
genetika molekuler
pada ASD.
1.4. Manfaat Karya Tulis IImiah
Studi pustaka ini diharapkan dapat memberikan informasi-informasi terkini
berupa berbagai studi tentang kelainan-kelainan genetik pada ASD yang dapat
menjadi dasar pemikiran untuk diagnosis, terapi, dan pencegahan ASD yang lebih
baik.
BABIV
KESIMPULAN DAN SARAN
4.1. Kesimpulan
Penelitian yang dilakukan pada anak kembar dan pada keluarga penderita ASD
membuktikan adanya faktor genetik yang berperan dalam etiologi ASD. Penderita
ASD sangat beragam dengan fenotip yang bervariasi, mungkin fenotip yang sarna
dihasilkan oleh gen yang berbeda dan sebaliknya. Banyak didapatkan penderita
ASD dengan kelainan kromosom dan mutasi gen. Tidak seperti penyakit genetik
lainnya, ASD disebabkan oleh multipel gen (banyak gen yang berperan). Telah
banyak kelompok peneliti yang mempelajari kelainan genetika dari ASD, tetapi
hingga saat ini gen yang pasti terlibat dalam etiologi ASD belum diketahui.
Kelainan gen dan abnormalitas kromosom dari gejala klinis yang terdapat pada
penderita ASD memberikan petunujuk adallya lokus-lokus tertentu yang terlibat
dalam etiologi ASD. Penelitian yang telah dilakukan memberikan hasil tentang
lokus-lokus tertentu dari kromosom tertentu yang diduga merupakan gen kandidat
ASD, namun sering ditemukan hasil yang tidak konsisten antar kelompok peneliti
genetik ASD bahkan sering gen yang diduga terkait dengan ASD terbukti tidak
memiliki kaitan sama sekali dengan ASD. Oleh karena itu dibutuhkan penelitian
yang lebih jauh lagi. Penyebab lain yang menghambat mencari gen-gen suseptibel
dengan ASD adalah proses penemuan dan upaya konfirmasi gen-gen kandidat
yang memerlukan waktu yang panjang dan biaya yang besar.
Kromosom dan gen yang diduga banyak berhubungan kuat dengan ASD
hingga saat ini terletak pada kromosom 2, 7, 15, 17, 18 dan X. Gen-gen yang
diduga kuat terkait dengan ASD hingga saat ini antara lain cAMP-GEFII,
SLC25AR, GATl, OXTR, CUTLl, LAMBl, PTRZl, FOXP2, WNT2, RELN,
HOXAl, AUTSl, CORTBP2, GATA3, GABRB3, GABRG3, UBE3A, ATPlOC,
SLC6A4, IMPA2, MeCP2, NLGN3, NLGN4 dan FMRl.
53
54
4.2. Saran
Meskipun penelitian terhadap struktur dan fungsi gen pada ASD sangat sulit,
penelitian untuk mencari etiologi pasti dari ASD harns terns dilanjutkan. Bila
etiologi genetik pasti dari ASD ditemukan, maka akan dapat ditegakkan diagnosis
pasti ASD sedini mungkin, terapi penderita ASD yang tepat, dan pencegahan
ASD sedini mungkin dengan lebih baik.
DAFT AR PUST AKA
Abdul Aziz. 2003. Terapi Okupasi Untuk Anak Autisme. Penatalaksanaan
Holistik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas KedokteranUniversitas Indonesia: 204 - 211.
Addington A. M., Gornick M., Sporn A. L., Gogtay N., Greenstein D., Lenane
M., et al. 2004. Polymorphism in The I3q33.2 Gene G27/G30 are Associated
with Childhood-onset Schizophrenia and Psychosis Not Otherwise Specified.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fe i?emd=Retrieve&db- ubmed&
dopt=Abstract&list uids= 15121480&itool=iconabstr. January 2nd,2005.
A. Adipumama.
2003.
Masalah Disbiosis Pada Autisme.
Penatalaksanaan
Holistik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas KedokteranUniversitas Indonesia: 326 - 330.
Anna Alisjahbana. 2003. Tanda-tanda Awal Dari Autisme. Makalah Lengkap
Konferensi Nasional Autisme I. Jakarta: PDSKJI, IDAI, dan PERDOSSI: 28
-34.
Assumpeao Junior F. B. 1998. Brief Report: a Case of Chromosome 22
Alteration
Associated
with
Autistic
Syndrome.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=9656137&itool=ieonabstr. September 1st,2004.
Auranen M., Varilo T., Alen R., Vanhala R., Ayers K., Kempas E., et al. 2003.
Evidence for Allelic Association on Chromosome 3q25-27 in Families with
Autism Spectrum Disorder Originating from a Sub isolate of Finland.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
st,
dopt=Abstract&list uids=14515138&itool=iconabstr. September 1 2004.
Autism Information Center.
2004.
About Autism.
http://www.cdc.gov.html.
September 1st, 2004.
Autism Society of America.
2004. Autism Info. http://autism-societv.org.html.
September 1st, 2004.
Bachelli E., Blasi F., Biondolillo M., Lamb J. A., Bonora E., Bamby G., et al.
2003. Screening of Nine Candidate Genes for Autism on Chromosome 2q
reveals rare non-synonymous variants in The camp-gejii Gene.
55
56
http://www.well.ox.ac.uk/~maestrin/chr2genes
September 1st,2004.
mp03 abstract.html.
Bah J., Quach H., Ebsetein R P., Segman RH., Melke J., Jamain S., et al. 2004.
Maternal Transmision Disliquibrium of The Glutamate Receptor GRIK2 in
Schizophrenia.httu:/ /www.ncbi.nlm.nih.gov/entrezJQuerv.fcgi?cmd=Retrieve&
db=pubmed&dopt=Abstract&list uids= 15305151 &itool=iconabstr.
January
2nd,2005.
Barber J., Ellis K. H., Bowles L. V., Delhanty J. D., Ede R F., Male B. M.,
and Eccles D. M. 1994. Adenomatous polyposis Coli and a Cytogenetic
deletion of Chromosome 5 Resulting from a Maternal lntrachromosomal
Insertion.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=8071957 &itool=iconabstr. December
Barlett C. W., Flax J. F., Logue M. W., Smith B. J., Vieland V. J., Tallal P.,
Brzustowicz L. M. 2004. Examination of Potential Overlap in Autism and
Language loci in Chromosome 2, 7, and 13 in Two Independent Samples
Ascertain
for
Spesific
Language
Impairment.
h ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15133308&itool=iconabstr. January
Beyer K. S., Blasi F., Bacchelli E., Klauck S. M., Maestrini E., Poutska A., and
International Molecular Genetic Study of Autism Consortium.
2002.
Mutation Analysis of The Coding Sequence of The MeCP2 Gene in Infantile
Autism. http://www.wel1.ox.ac. uk/~maestrin/bever2002abs.html.
September
1st,2004.
Beyer K. S., Klauck S. M., Blasi F., Bacchelli E., Benner A., Epps S., et al.
2002.
Candidate
Gene
Analysis
in
Autism.
http://www.well.ox.ac.uk/~maestrin/ashg2002 bever. September 1st,2004.
Bolton P., MacDonald H., Pickles A., Rios P., Goode S., Crowson M., and Bailey
R. M.
1994.
A Case-Control Family History Study of Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=7962246&itool=iconabstr. December 2nd,2005.
Bolton P. F., Veltman M. W., Weisblatt E., Holmes J. R., Thomas N. S.,
Youings S. A., et al. 2004. Chromosome 15q11-13 Abnormalities and Other
Medical Conditions in Individuals with Autism Spectrum Disorders.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15318025&itool=iconabstr. January 2nd,2005.
57
Bonora E., Bacchelli E., Levy E. R., Blasi F., Marlow A., Monaco A. P., et al.
2002. Mutation Screening and Imprinting Analysis of Four Candidate Genes
for
Autism
in
The
7q32
Region.
p.ttp:llwww.well.ox.ac.uk/~maestrin/bonoramp.html.
September 1st,2004.
Bonora E., Lamb J. A., Abbott A., Redhead N., Ragoussis 1., Bailey A. J., et al.
2003. Lingkage to The AUTS1 Locus and Analysis of Candidate Genes for
Autism on Chromosome 7q. http://www.well.ox.ac.uk/~maestrin/ashg2003.
September
1st, 2004.
Bonora E., Lamb J. A., Bamby G., Sykes N., Moberly T., Beyer K. S., et al.
2004. Mutation Screening and Association Analysis of Six Candidate Genes
for
Autism
on
Chromosome
7q.
htt ://www.ncbi.nlm.nih. ov/entrezi uer .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=14699429&itool=iconabstr. January
Bonora E., Lamb J. A., Beyer K., Klauck S. M., Poustka A. M., Bailey A. J., et
al.
2002.
Analysis
of
Reelin
in
Autism.
http://www.well.ox.ac.uk/~maestrin/ashg2002 bonora. September 1st,2004.
Bork P., Copley R. 2001. When is a Prediced Gene As a Gene. Nature (409).
London: Nature Publising Group. p. 819.
Borg 1., Squire M., Menzel C., Stout K., Morgan D., Willtat L., et al. 2002. A
Cryptic Deletion of 2q35 Including Part of The PAX3 Gene Detected by
Breakpoint Mapping in a Child with Autism and a De Novo 2;8 Translocation.
htt ://www.ncbi.nlm.nih. ov/entrezi ue .fc i?cmd=Retrieve&db= ubmed&
2na,2004.
dopt=Abstract&list uids=12070244&itool=iconabstr. December
Briegel W., Cohen M. 2004. Chromosome 22q11 Deletion Syndrome and Its
Relevance Psychiatry. An Overview of Etiology, Physical Symptoms, Aspect
of
Chid
Development
and
Psychiatric
Disorders.
htt ://www.nebLnlm.nih. ov/entrezi ue .fc i?emd=Retrieve&db= ubmed&
dopt=Abstraet&list uids= 15181786&itool=ieonabstr. January 2nd,2005.
Buxbaum J. D., Silverman J., Keddache M., Smith C. J., Hollander E., Ramoz
N., and Reichert J. G. 2004. Linkage Analysis for Autism in a Subset
Families with Obsessive-Compulsive Behaviors: Evidence for an Autism
Susceptibility
Genes
on
Chromosome
6
and
19.
htt ://www.ncbLnlm.nih. ov/entrezi ue .fe i?emd=Retrieve&db- ubmed&
dopt=Abstraet&list uids= 14699429&itool=iconabstr. January 2nd,2005.
58
Buxbaum J. d., Silverman J. M., Smith C. J., Greenberg D. A., Kilifarski M.,
Reichert J., et al. 2002. Association Between a GABRB3 Polymorphism and
Autism.htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- u
2nd,
bmed&dopt=Abstract&list uids= 11920 158&itool=iconabstr. December
2004.
Buxbaum J. D., Silverman J. M., Smith C. J., Kilifarski M., Reichert J.,
Hollander E., et al. 2001. Evidence for a Susceptibility Gene for Autism on
Chromosome
2
and
for
Genetic
Heterogeneity.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=I1353400&itool=iconabstr. December 2nd,2004.
Carratala F., Galan F., Moya M., Estivill X., Pritchard M. A., Lievadot R., et al.
1998. A Patient with Autistic Disorder and a 20 / 22 Chromosomal
Translocation.http://www.ncbi.nlm.nih.gov /entrez/query .fcgi ?cmd=Retrieve&
db=pubmed&dopt= Abstract&list uids=9698063&itool=iconabstr. September
1st, 2004.
Catherine
J.
1998.
The
Hunt
http://www2.umdni.edulforumwebIR1-oct-98.htm.
for
Autism
Genes.
September 1st, 2004.
Cheung J., Petek E., Nakabayashi K., Tsui L. c., Vincent J. B., Scherer S. w.
2001. Identification of The Human Cortactin-Binding Protein-2 Gene from
The
Autism
Candidate
Region
at
7q31.
htt ://www.ncbi.nlm.nih. ov/entreZ/ uer .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=11707066&itool=iconabstr. September 1 2004.
Cisterna F. A., Vincent J. B., Scherer S. W., Ray P. N. 2003. Cloning and
Characterization of Human CADPS and CADPS2, New Members of The
Ca2+-Dependent
Activator
for
Secretion
Protein
Family.
htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12659812&itool=iconabstr. September 1st, 2004.
Conciatori M., Stodgell C. J., Hyman S. L., O'Bara M., Militerni R., Bravaccio
C., et al. 2004. Association Between The HOXAI A218G Polymorphism and
Increased
Head
Circumference
in
Patient
with
Autism.
htt ://www.ncbi.nlm.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
doVt=Abstract&list uids=14960295&itool=iconabstr. January 2nd,2005.
Cook E. H., Lindgren V., Leventhal B. L., Courchesne R., Lincoln A., Shulman
C., et al. 1997. Autism or Atypical Autism in Maternally but not Paternally
59
Derived
15q
Duplication.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db=st, ubmed&
dopt=Abstract&list uids=9106540&itool=iconabstr. September 1 2004.
Craddock N., Lendon C. 1999. Chromosome Workshop: Chromosome 11, 14,
15.
and
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=10374739&itool=iconabstr. September
D' Adamo P., Bacchelli E., Blasi F., Peter L. H., Toniolo D., Maestrini E., and the
International Molecular Genetic Study of Autism Consortium (IMGSAC)4.
2004. DNA Variants in The Human RAB3A Gene Are Not Associated with
Autism. http://www.well.ox.ac.uk/~maestrin/rab3a abstract.html. January
2nd, 2005.
Diana Krisanti
Jasaputra.
2003.
Alergi Makanan Pada Anak Autis.
Penatalaksanaan Ho/istik Autisme. Edisi 1. Jakarta: Pusat Infonnasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 222 - 236.
.2003.
Gangguan Sistem Imun Pada Anak Autistik. Jurnal Kedokteran
Maranatha,2 (2): 94 - 104.
Duke Center for Human Genetics.
2004.
pdd.net/research.html. October 3rd,2004.
Autism.
http://www.autism-
EI-Hazmi M. A. F. 2001. Autism and Mental Retardation: The Genetic
Relationship
and
Contribution.
http://www .emro.who.int/publications/EMHJ/0703/ Autism.html.
September
st,
1 2004.
Fahsold R., Rott H. D., Claussen U., Schmalenberger B. 1991. Tuberous
Sclerosis in a Child with De Novo Translocation t(3;12) (p26.3;q23.3).
htt ://www.ncbLnlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=1756605&itool=iconabstr. September 1 2004.
Filipek P. A., Juranek J., Smith M., Mays L. Z., Ramos E. R., Bocian M., et al.
2003. Mithocondrial Dysfunction in Autistic Patient with 15q Inverted
Duplication.http://www .ncbLnlm.nih. gov/entrezJquery .fcgi?cmd=Retrieve&d
b=pubmed&dopt=Abstract&list uids= 12783428&itool=iconabstr. September
1st, 2004.
60
Flejter W. L., Baker P. E. B., Ghaziuddin M., McDonald M., Sheldon S., Gorski
J. L. 1996. Cytogenetic and Molecular Analysis of Inv Dup (15)
Chromosomes Observed in Two Patients with Autistic Disorder and Mental
Retardation.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=8669450&itool=iconabstr. September
Folstein S. E., Sheidley B. R. 2001. Genetic of Autism: Complex Aetiology for a
Disorder.
Heterogenous
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11733747&itool=iconabstr. September
Fields S. 2001. Proteomics in Genomeland. Science (291). p. 122 - 124.
Ghaziuddin M., Sheldon S., Tsai L. Y., Alessi N. 1993. Abnormalities of
Chromosome 18 in a Girl with Mental Retardation and Autistic Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db=st, ubmed&
dopt=Abstract&list uids=8334323&itool=iconabstr.September 1 2004.
Goizet C., Excoffier E., Taine L., Taupiac E., El Moniem A. A., Arvieler B., et
al. 2000. Case with Autistic Syndrome and Chromosome 22q13.3 Deletion
Detected
by
FISH.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=11121193&itool=iconabstr. September 1st,2004.
Goodman A. B. 1994. A Family History Study of Schizophrenia Spectrum
Disorders Suggets New Candidate Genes in Schizophrenia and Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=7831415&itool=iconabstr. September 1st,2004.
Hallmayer J., Hebert J. M., Spiker D., Lotspeich L., McMahon W. M., Petersen
P. B., et al. 1996. Autism and The X Chromosome. Multipoint Sib-Pair
Analysis.
htt ://www.ncbi.nlm.nih.
dopt=Abstract&list uids=7831415&itool=iconabstr.
September 1st,2004.
Hana Ratnawati. 2003. Leaky Gut Sebagai Penyebab Gangguan Gastrointestinal
Pada ASD. Jurnal Kedokteran Maranatha, 2 (2): 105 - 121.
61
. 2003. Leaky Gut Pada Autisme. Penatalaksanaan Ho/istik Autisme.
Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas KedokteranUniversitas Indonesia: 236 - 248.
Hardiono D. Pusponegoro. 2003. Pandangan Umum Mengenai Klasifikasi
Spektrum Gangguan Autistik dan Kelainan Susunan Saraf Pusat. Makalah
Lengkap Konferensi Nasional Autisme I. Jakarta: PDSKJI, IDAI, dan
PERDOSSI: 1 - 7.
Heiser P., Friedel S., Dempfle A., Konrad K., Smidt J., Grabarkiewicz J., et al.
2004.
Molecular Genetic Aspects of Attention-Deficit / Hyperactivity
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrez/ uer .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15527867&itool=iconabstr. January 2nd,2005.
Hutcheson H. 8., Olson L. M., Bradforf Y., Folstein S. E., Santangelo S. L.,
Sutcliffe J. S., and Haines J. L. 2004. Examination of NRCAM, LRRN3,
KIAA0716,
and
LAMB]
as
Autism
Candidate
Genes.
htt ://www.ncbi.n1m.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15128462&itool=iconabstr. January 2nd,2005.
Ika Widyawati. 2003. Manajemen Multidisiplin Pada Individu Dengan Autistic
Spectrum Disorder. Makalah Lengkap Konferensi Nasional Autisme [.
Jakarta: PDSKJI, IDAI, dan PERDOSSI: 61 - 66.
Iwan Muljadi, Khie Khiong, dan Teresa Liliana Wargasetia. 2004. Biologi Sel
dan Molekul. Bandung: Bagian Biologi Fakultas Kedokteran Maranatha: 4553.
Iwan Muljadi, Sylvia Soeng, dan Khie Khiong. 2003. Biologi Medik. Bandung:
Bagian Biologi Fakultas Kedokteran Maranatha: 23 - 29.
Iberall. 2004. Epigenetic. htto://pespmc1.vub.ac.be/ASC/EPIGENETIC.html
Jamain S., Betancur C., Quach H., Philippe A., Fellous M., Giros B., et al. 2002.
Linkage and Association of The Glutamate Receptor 6 Gene with Autism.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=11920157&itool=iconabstr. September 1 2004.
Jan S. Purba. 2003. Patogenesis Autisme: Menuju Tatalaksana Holistik dan
Terintegrasi. Penatalaksanaan Ho/istik Autisme. Edisi I. Jakarta: Pusat
62
Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 321 - 325.
2003. Pengaruh Imunobiologi Terhadap Perilaku Pada Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 386 - 389.
Jan Prasetyo. 2003. Gangguan Disruptif dan Sindroma Autistik Pada Anak.
Makalah Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI, IDAI,
dan PERDOSSI: 43 -47.
Jiang Y. H., Sahoo T., Michaelis R. C., Bercovich D., Bressler J., Kashork C.
D., et al. 2004. A Mixed Epigenetic / Genetic Model for Oligogenic
Inheritance
of Autism
with a Limited
Role
for UBE3A.
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstract&list uids=15389703&itool=iconabstr. January
Kaminen N., Jouppi K. H., Kestila M., Lehermo P., Muller K., Kaaranen M., et
al. 2003. A Genome Scan for Developmental Dyslexia Confirms Linkage to
Chromosome
2pll
and
Suggest
a New
Locus
on
7q32.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=12746395&itool=iconabstr. September 1 2004.
Kamnasaran D. 2003. Genetic Analysis of Psychiatric Disorder Associated with
Human
Chromosome
18.
htt ://www.ncbLnlm.nih. ov/entrezl uer .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=14690303&itool=iconabstr. September 1 2004.
Klauck S. M., Beyer K. S., Benner A., Poutska F., Poutska A., International
Molecular Genetic Study of Autism Consortium. 2000. Infantile Autism Fine Mapping of a Candidate Region on Chromosome 7q and Association
Studies
of
Candidate
Genes.
st,
http://www.well.ox.ac.ukI~maestrin/versilles.html. September 1 2004.
Klauck S. M., Poutska F., Benner, Spieler, Poutska A., International Molecular
Genetic Study of Autism Consortium. 1998. Searching for Susceptibility
Genes
for
Infantile
Autism.
st,
http://www.well.ox.ac.uk/~maestrin/bonnabs.html.
September 1 2004.
Klauck S. M., Munstermann E., Martig B. B., Rubl D., Lisch S., Schmotzer G.,
et al. 1997. Molecular Genetic Analysis of The FMR-1 Gene in a Large
Collection
of
Autistic
Patients.
63
htt ://www.nebi.nlm.nih. ov/entrezJ ue .fe i?emd=Retrieve&db=SI, ubmed&
dopt=Abstract&list uids=9254854&itool=iconabstr.September 1 2004.
Kolevsozon A., Smith C. J., Sehmeidler J., Buxbaum J. D., Silvem1an J. M.
2004. Familial Symptom Domain in Monozygotic Siblings with Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?emd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=15274045&itool=iconabstr. September 1 2004.
Krisnadi Y.
2002.
Autisme: Ramai Tersesat di
http://www.gatra.com/2003-05-12/versi cetak.php?id=28313.
2004.
Kota Asing.
1 September
Kroisel P. M., Windpassinger C., Wagner K., Petek E., Vincent J. B., Scherer S.
W., et al. 2004. De Novo Translocation t95;180 9q33.1;q12.10 Associated
with
Autistic
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15266626&itool=iconabstr. January 2nd,2005.
Lassig J. P., Vachirasomtoon K., Hartzell K., Leventhal M., Courchesne E.,
Courchesne R., et al. 1999. Physical Mapping of The Serotonin 5-HT(7)
Receptor Gene (HTR7) to Chromosome 10 and Pseudogene (HTR7P) to
Chromosome 12, and Testing of Linkage Disequilibrium Between HTR7 and
Disorder.
Autistic
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=10490701&itool=iconabstr. October 2nd,2004.
Liu J., Nyholt D. R. Magnussen P., Parano E., Pavone P., Geschwind D., et ale
2001.
A Genomewide Screen for Autism Susceptibility
Loci.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=11452361&itool=iconabstr. October 2nd,2004.
Machmud. 2003. Strategi: Pengembangan Kemampuan Anak Autisme Secara
Terpadu.
Penatalaksanaan
Holistik Autisme.
Edisi 1. Jakarta:
Pusat
Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 165 - 171.
MacLaen J. E., Teshima I. E., Szatmari P., Nowaczyk M. J. 2000. Ring
Chromosome
22
and
Autism:
Report
and
Review.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=10706359&itool=iconabstr. October 2nd,2004.
64
Maestrini E. 1998. Linkage Disequilibrium Mapping and Candidate Gene
http://www.well.ox.ac.uk/~maestrin/ashg1998.html.
Analysis of Autism.
September 1st, 2004.
. 1999. Search for Autism Susceptibility Loci: Genome Screen FollowUp and Fine Mapping of a Candidate Region on Chromosome
7q.
st,
http://www.well.ox.ac.uk/~maestrin/ashgI999.html.
September 1 2004.
. 2001. Analysis of Candidate Genesfor Autism on Chromosome 7q,2q,
September 1st,
and 16p. http://www.well.ox.ac.uk/~maestrin/ashg2001.html.
2004.
Maestrini E., Bacchelli E., Blasi F., Biondolilo M., Bailey A. J., Monaco A. P.,
and the International Molecular Genetic Study of Autism Consortium. 2002.
Analysis of Nine Candidate Genes for Autism on Chromosome
2q.
st,
http://www.well.ox.ac.uk/~maestrin/ashg2002.html. September 1 2004.
Maestrini E., Lai C., Marlow A., Matthews N., Wallace S., Bailey A., et al. 1999.
Serotonin Transporter (5-HTT) and Gamma-Aminobuyric Acid Receptor
Subunit (GARBRB3) Gene Polymorphism Are Not Associated with Autism in
The
IMGSA
families.
http://www.well.ox.ac.uk/~maestrin/abs2.html.
September
1st, 2004.
Mahr R. N., Moberg P. J., Overhauser J., Strathdee G., Kamholtz J., Loevner L.
A.,
et
al.
1996.
Neuropsychiatry
of
18q-Syndome.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
2nd,2004.
dopt=Abstract&list uids=8723044&itool=iconabstr. October
Manning M. A., Cassidy S. B., Clericuzio c., Cherry A. M., Schwartz S.,
Hudgins L., et al. 2004. Terminal 22q Deletion Syndrome: a Newly
Recognized Cause of Speech and Language Disability in The Autism
Spectrum.
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
2nd,2005.
dopt=Abstract&list uids=15286229&itool=iconabstr. January
McCauley J. L., Olson L. M., Delahayanty R., Amin T., Nunni E. L., Organ E.
L., et al. 2004. A Linkage Disequilibrium Map of The I-Mb 15q12 GABA(A)
Receptor
Subunit
Cluster
and
Association
to
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15389769&itool=iconabstr. January
McCoy P. A., Shao Y.,Wolpeet C. M., Donnelly S. D., Koch A. A., Abel H.
L., et al. 2002. No Association Between The WNT2 Gene and Autistic
Disorder.
65
htt ://www.ncbi.nlm.nih. ov/entrezJ uer .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11840514&itool=iconabstr. September
Meilinah Hidayat.
2003.
Jalan Berliku Menuju Kepulihan Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi clan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 289 - 302.
. 2003. Pulih Dari Autisme. Jurnal Kedokteran Maranatha, 2 (2):
122
-131.
Michaelis R. C., Skinner S. A., Deason R., Skinner C., Moore C. L., Phelan M.
C. 1997. Intersitial Deletion of 20p: New Candidate Regionfor Hirschprung
Disease
and
Autism.
htt ://www.ncbLnlm.nih. ov/entrezJ uer .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=9268100&itool=iconabstr. September
Miranda K. N., Murch A., Petterson B., Hill W., Hill A. N., Bradley L., et al.
2004. An Investigation Into Sub-Teloremic Deletions of Chromosome 22 and
Pervasive
Developmental
Disorders.
htt ://www.ncbi.n1m.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=14755453&itool=iconabstr. January 2nd,2005.
Murayama K., Greenwood R. S., Rao K. W., Aylsworth A. S. 1991.
Neurological
Aspects
of
Del(Iq)
Syndrome.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=1746617&itool=iconabstr. September 1st,2004.
National
Alliance
for
Autism
Research.
http://www.eksploringautism.com.html.
2004.
Exploring
1st,2004.
September
Autism.
The National Autistic Society. 2004. About Autistic Spectrum Disorder.
http://www.nas.org.html. September 1st,2004.
Nasr A., Roy M. 2000. Association of a Balanced Chromosomal Translocation
Autism.
and
Disorder
Affective
(q21.3;q15),
(4; 12)
htt ://www.ncbi.nlm.nih.
i?cmd=Retrieve&db= ubmed&
st,
dopt=Abstract&list uids=10898381&itool=iconabstr. September 1 2004.
66
Newbury D. F., Bonora E., Lamb J. A., Fisher S. E., Lai C. S., Baird G., et al.
2002. FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific
Impairment.
Lenguage
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11894222&itooI=iconabstr. September
Nikiasson L., Rasmussen P., Oskarsdottir S., Gillberg C. 2001. Neuropsychiatric
in
The
22qll
Deletion
Syndrome.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st,ubmed&
dopt=Abstract&list uids=I1339385&itooI=iconabstr. September 1 2004.
2002.
Chromosome 22qll Deletion Syndrome (CATCH 22):
Neuropsychiatric
and
Neuropsychological
Aspects.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
1st,2004.
dopt=Abstract&list uids=11811651&itool=iconabstr. September
Ogilvie C. M., Moore J., Daker M., Palferman S., Docherty Z. 2000.
Chromosome 22qll Deletion Are Not Found in Autistic Patients Identified
Using Strict Diagnostic Criteria. IMGSA C. International Molecular Genetic
Study
of
Autism
Consortium.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= st, ubmed&
dopt=Abstract&list uids=10686546&itooI=iconabstr. September 1 2004.
Oja T. Y., yon Wendt T. N., Kempas E., Sarenius S., Varilo T., yon Wendt L., et
al.
2004. Genome-wide Scan for Loci of Asperger Syndrome.
htt ://www.ncbi.nIm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=14966474&itooI=iconabstr. January 2nd,2005.
Oja T. Y., Janvid M. P., Lindberg C. M., Rehnstrom K., Vanhaia R., Peltonen
L., et al. 2004. Family-Based Association Study of DYXICI Variants in
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15470369&itooI=iconabstr. January 2nd,2005.
Online Mendelian Inheritance in Man.
2004.
Autistic Disorder.
http://www.ncbi.nIm.nih.~ov/entrezidispomim.cgi?id=209850 . October 3rd,
2004.
Persico A. M., Militerni R., Bravaccio C., Schneider C., Melmed R., Conciatori
M., et al. 2000. Lack of Association Between Serotonin Transporter Gene
Promoter Variants and Autistic Disorder in Two Ethnically Distinct Samples.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&Iist uids=10686565&itooI=iconabstr. September 1st,2004.
67
Persucci C., Meloni I., Bruttini M., Ariani F., Longo I., Mari F., et al. 2003.
Chromosome 2 Deletion Encompassing The MAP2 Gene in a Patient with
Autism
and
Rett-like
Features.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db=1st,2004.
ubmed&
dopt=Abstract&list uids=14986829&itool=iconabstr. September
Pleyte, W. EdithHumris. 2003. Autisme dan Retardasi Mental. Makalah
Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI, IDAI, dan
PERDOSSI: 117 - 124.
Prassad c., Prasad A. N., Chodirker B. N., Lee C., Dawson A. K., Jocelyn L. J.,
and Chudley A. E. 2000. Genetic Evaluation of Pervasive Developmental
Disorders: The Terminal 22q13 Deletion Syndrome may Represent a
Phenotype.
Recognizable
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- st,ubmed&
dopt=Abstract&list uids=10735630&itool=iconabstr. September 1 2004.
Rabionet R., Jaworski J. M., Koch A. E. A., Martin E. R., Sutcliffe J. S.,
Haines J. L., et al. 2004. Analysis of The Chromosome 2 Linkage Region:
GAD 1
and
Other
Candidate
Genes.
htt ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=15542242&itool=iconabstr. January
Raiford K. L., Shan Y., Allen I. c., Martin E. R., Menold M. M., Wright H. H.,
et al. 2004. No Association Between The APOE Gene and Autism.
htt ://www.ncbi.nlm.nih. ov/entreZ/ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2005.
dopt=Abstract&list uids=14755445&itool=iconabstr. January
Ramanathan S., Woodroffe A., Flodman P. L., Mays L. Z., Hanouni M., Modahl
C. B., et al. 2004. A Case of Autism with an Interstitial Deletion on 4q
Leading to Hemizygosity for Genes Encoding for Glutamine and Glycine
Neurotransmitter Receptor Sub-Units (AMPA2, GLRA3, GLRB) and
Neuropeptide
Receptors
NPYIR,
NPY5R.
h ://www.ncbLnlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids= 15090072&itool=iconabstr. January 2nd,2005.
Ramoz N., Reichert J. G., Smith C. J., Silverman J. M., Bespalova I. N., Davis
K. L., and Buxbaum J. D. 2004. Linkage and Association of The
Mitochondrial Aspartate / Glutamate Carrier SLC25A12 Gene with Autism.
htt ://www.ncbi.nlm.nih. ov/entrez/ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15056512&itool=iconabstr. January 2nd,2005.
68
Roubertie A., Semprino M., Chaze A. M., Rivier F., Humbertclaude V.,
Cheminal R., et al. 2001. Neurological Presentation of Three Patients with
22qIl
Deletion
(CATCH
22
Syndrome).
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db=
ubmed&
2nd,2004.
dopt=Abstract&list uids=11720799&itool=iconabstr. October
Rudy Sutadi. 2003. Intervensi Biomedis Pada Masalah Perilaku Autisme.
Penatalaksanaan Holistik Autisme. Edisi 1. Jakarta: Pusat Infonnasi dan
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 390 - 413.
Rudy Sutandi. 2003. Kata Sambutan. Penatalaksanaan Holistik Autisme. Edisi
1. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas Kedokteran Universitas Indonesia: ix - x.
Sabaratnam M., Turk J., Vreogop P. 2000. Case Repor: Autistic Disorder and
Chromosomal
Abnormality
46,
XX
Duplication
(4) pI2-13.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=11202107&itool=iconabstr. October
Sasanti Yuniar. 2003. Masalah perilaku Pada Gangguan Spektrum Autisme
(GSA). Makalah Lengkap Konferensi Nasional Autisme I. Jakarta: PDSKJI,
IDAI, dan PERDOSSI: 35 - 42.
Sauter S., yon Beust G., Burfeind P., Weise A., Starke H., Liehr T., and Zoll B.
2003. Autistic Disorder and Chromosomal Mosaicism 46, XX [123J / 46, XY,
Del
(20)
(pter
-7
pI2.2)
[1 OJ.
htt ://www.ncbi.nlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12884434&itool=iconabstr. October 2nd,2004.
Schroer R. J., Phelan M. C., Michaelis R. C., Crawford E. c., Skinner S. A.,
Cuccaro M., et al. 1998. Autism and Maternally Derived Aberrations of
15q.
Chromosome
htt ://www.ncbLnlm.nih. ov/entrezl ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=9545097 &itool=iconabstr. October 2nd,2004.
Sheidley
B.
R.
2004.
Genetic
Factor
in
Autism.
http://www.autismtodav.comlarticles/Genetic Factors in Autism.html.
October 3rd,2004.
Shim S. H., Pan A., Huang X. L., Tonk V. S., Varma S. K., Milunsky J. M.,
and Wyandt H.
E.
2003.
FISH Variants with D15Z1.
69
htt ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2004.
dopt=Abstraet&list uids=15213412&itool=ieonabstr. October
Skaar D. A., Shao Y., Haines J. L., Stenger J. E., Jaworski J., Martin E. R., et
al. 2004. Analysis of The RELN Gene as a Genetic Risk Factor for Autism.
htt ://www.nebLnlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstraet&list uids=15558079&itool=ieonabstr. January
Slamet Santosa. 2003. Pengaruh Logam Berat pada Autisme. Penatalaksanaan
Holistik Autisme. Edisi 1. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas Kedokteran Universitas Indonesia: 24 - 34.
2003. Peran Metallothionein Pada Autisme.
Maranatha, 2 (2): 86 - 93.
Jurnal Kedokteran
Sri Utami Soedarsono Djamaluddin. 2003. Model Layanan Pendidikan Anak
Autistik. Penatalaksanaan Holistik Autisme.
Edisi 1. Jakarta:
Pusat
Infonnasi dan Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran
Universitas Indonesia: 420 - 433.
. 2003. Penyesuaian Pendidikan Anak Autistik Berdasarkan Karakter
Anak. Makalah Lengkap Konferensi Nasional Autisme 1. Jakarta: PDSKJI,
IDAI, dan PERDOSSI: 268 - 278.
Stone J. L., Merriman B., Cantor R. M., Yonan A. L., Gilliam T. C., Gesehwind
D. H., and Nelson S. F. 2004. Evidance for Sex-Spesific Risk Alleles in
Disordrer.
Spectrum
Autism
h ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2005.
dopt=Abstraet&list uids=1546783&itool=ieonabstr. January
Sultana M. H. Faradz. 2003. Genetic Evaluation of Autism With Special
Reference to Fragile-X Syndrome. Makalah Lengkap Konferensi Nasional
Autisme I. Jakarta: PDSKJI, IDAI, dan PERDOSSI: 8 - 16.
Tender D., Brandberg G., Betaneur C., Gillberg C., Anneren G., Orsmark C., et
al. 2001. A Balanced Reciprocal Translocation t(5;7) (q14;q32) Associated
with Autistic Disorder: Molecular Analysis of The Chromosome 7 Breakpoint.
htt ://www.nebi.nlm.nih. ov/entrezl ue .fe i?emd=Retrieve&dbubmed&
2nd,2004.
dopt=Abstraet&list uids=11803521&itool=ieonabstr. October
Teresa Liliana
Wargasetia.
2003.
Aspek Genetika
Pada Autisme.
Penatalaksanaan Ho/istik Autisme.
Edisi 1. Jakarta: Pusat Infonnasi dan
70
Penerbitan Bagian Ilmu Penyakit Dalam Fakultas Kedokteran Universitas
Indonesia: 13 - 23.
. 2003. Perkembangan Mutakhir Genetika Biomolekuler Pada Autisme.
Jurnal KedokteranMaranatha, 2 (2): 73 - 85.
Thomas H., Wassink M. D. 2002. Genetics in Psychiatry: The Case of Autism.
http://www.uihealthcare.com/news/currents/vo1.3 issue2/07 autism.html.
September 1S\ 2004.
Tjut Meura Salma Oobit Edi. 2003. Diagnosis Dini Autisme. Penatalaksanaan
Ho/istik Autisme. Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian
Ilmu Penyakit Dalam Fakultas Kedokteran Universitas Indonesia: 9 - 12.
vanDerWeele J. V., Christian S. L., Cook E. H. 2004. Autism as a
Paradigmatic
Complex
Genetic
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15485354&itool=iconabstr. January 2nd,2005.
vanDerWeele J. V., Cook E. H. 2003. Genetics of Childhood Disorder.
http://pediatrics.aappublications.org/cgi/content/abstract/ 113/5/e4 72.
September 1S\ 2004.
2004.
Molecular
Genetics
of
Autism
Disorder.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=15197396&itool=iconabstr. January 2nd,2005.
Verri A., Maraschio P., Devriendt K., Uggetti C., Spadoni E., Haeusler E., and
Federico A.
2004.
Chromosome 10p Deletion in a Patient with
Hypoparathyroidism, Severe Mental Retardation, Autism and Basal Ganglia
Calsifications .http://www.ncbi.nlm.nih.gov/entrezJquerv .fcgi?cmd=Retrieve&
db=pubmed&dopt=Abstract&list uids= 15337474&itool=iconabstr.
January
2nd,2005.
Vincent J. B., Kolozsvari D., Roberts W. S., Bolton P. F., Gurling H. M.,
Schere S. W. 2004. Mutation Screening of X-Chromosomal Neuro/igin
Genes:
No
Mutations
in
196
Autism
Probands.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=15274046&itool=iconabstr. January 2nd,2005.
Wassink T. H., Piven J., Vieland V. J., Goedken R. J., Foistein S. E., Sheffield
V. C. 2002. Evaluation of FOXP2 as an Autism Susceptibility Gene.
71
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids= 12116195&itool=iconabstr. October
Weiss L. A., Escayg A., Kearney J. A., Trudeau M., MacDonald B. T., Mori M.,
Reichert J., et al. 2003. Sodium Channels SCNIA, SCN2A and SCN3A in
Autism.
Familial
htt ://www.ncbi.n1m.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubmed&
2nd,2004.
dopt=Abstract&list uids=12610651&itool=iconabstr. October
Wenger S. L., Steele M. W., Becker D. J. 1988. Clinical Consequences of
1p3 5.
Deletion
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fe i?cmd=Retrieve&db- ubmed&
dopt=Abstract&list uids=3367353&itool=iconabstr. October 2nd,2004.
Widura. 2003. Aspek Imunologi Autoimunitas pada Autisme dan Pengobatannya
dengan Imunologi G intravena (IVIG). Penatalaksanaan Holistik Autisme.
Edisi I. Jakarta: Pusat Informasi dan Penerbitan Bagian Ilmu Penyakit Dalam
Fakultas Kedokteran Universitas Indonesia: 139 - 143.
. 2003.
Faktor-faktor Pencetus Autism Spectrum Disorder (ASD).
Jurnal KedokteranMaranatha, 2 (2): 64 - 72.
Yamagata T., Aradhya S., Mori M., Inoue K., Momoi M. Y., Nelson D. L. 2002.
The Human Secretin Gene: Fine Strusture in Ilp15.5 and Sequence Variation
in
Patients
with
Autism.
htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fe i?cmd=Retrieve&db= ubmed&
dopt=Abstract&list uids=12160732&itool=iconabstr. October 2nd,2004.
Yonan A. L., Alarcon M., Cheng R., Magnusson P. K., Spence S. J., Palmer A.
A., et al. 2003. A Genomewide Screen of 345 Families for AutismSusceptibility
Loci.htt ://www.ncbi.nlm.nih. ov/entrezJ ue .fc i?cmd=Retrieve&db- ubm
ed&dopt=Abstract&list uids= 13680528&itool=iconabstr. October 2nd,2004.