Senarai Penerbitan
Terdapat sebilangan besar penyelidikan berkaitan autisme yang boleh dijumpai di Malaysia yang umumnya menumpukan pada ASD, gangguan pembelajaran, alat bantu komunikasi, terapi dan banyak lagi. Senarai penerbitan disediakan di bawah:
- Klik ini untuk mencari menggunakan kata kunci yang ditentukan oleh pengguna.
- Ia akan membawa kepada laman web baru dengan kotak carian teks.
- Taip kata kunci anda di kotak carian
- Klik pada Kata kunci untuk mencari sebarang penerbitan. Kata yang lebih besar menunjukkan tanda yang paling banyak digunakan dan kata yang lebih kecil menunjukkan yang paling sedikit digunakan.
- Klik pada butang lungsur untuk memilih bertahun-tahun, jenis penerbitan atau pengarang pilihan anda.
- Klik pada perkataan bergaris bawah dalam perincian penerbitan untuk melihat lebih banyak maklumat.
2019 |
Prabhakar, S; Cheah, P S; Zhang, X; Zinter, M; Gianatasio, M; Hudry, E; Bronson, R T; Kwiatkowski, D J; Stemmer-Rachamimov, A; Maguire, C A; Sena-Esteves, M; Tannous, B A; Breakefield, X O Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1 Artikel Jurnal Molecular Therapy - Methods and Clinical Development, 15 , hlm. 18-26, 2019, ISSN: 23290501, (dipetik oleh 2). Abstrak | Pautan | BibTeX | Tag: Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System @artikel{Prabhakar201918, tajuk = {Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1}, pengarang = {S Prabhakar and P S Cheah and X Zhang and M Zinter and M Gianatasio and E Hudry and R T Bronson and D J Kwiatkowski and A Stemmer-Rachamimov and C A Maguire and M Sena-Esteves and B A Tannous and X O Breakefield}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85070908794&doi=10.1016%2fj.omtm.2019.08.003&rakan kongsi = 40&md5=b169187dde0d3b05f8a9d5295a4ad8c4}, doi = {10.1016/j.omtm.2019.08.003}, terbitan = {23290501}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Molecular Therapy - Methods and Clinical Development}, isi padu = {15}, halaman = {18-26}, penerbit = {Akhbar Sel}, abstrak = {Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019}, nota = {dipetik oleh 2}, kata kunci = {Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System}, pubstate = {diterbitkan}, tppubtype = {artikel} } Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019 |
Cth, N A N; Ibrahim, M Saya; Rahman, A A; Bakar ia, R S; Yahaya, N A; Hussin, S; Mansor, Wan W N A Jurnal Antarabangsa Penyelidikan Alam Sekitar dan Kesihatan Awam, 16 (10), 2019, ISSN: 16617827, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Dewasa, Artikel, Autisme, Gangguan Spektrum Autisme, Pengasuh, Penjagaan Kanak-kanak, Anak-anak, komorbiditi, Perundingan, Kajian Terkawal, Kajian Lintas Bahagian, Perempuan, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Sistem penjagaan kesihatan, Perkhidmatan kesihatan, Pekerja kesihatan, Manusia, Kepuasan kerja, Kelantan, Kajian Klinikal Utama, Malaysia, Lelaki, Pengurusan, Kesihatan mental, Pertengahan umur, Terapi pekerjaan, Soal Selidik Skala Kepuasan Ibu Bapa, Persepsi, Kepuasan Peribadi, Penjagaan Kesihatan Utama, Penjagaan Perubatan Utama, Psikologi, Soal selidik, Kepuasan hati, Penjagaan Kesihatan Sekunder, Terapi ucapan, Tinjauan, Penjagaan Kesihatan Tertiari, West Malaysia @artikel{Adib2019, tajuk = {Peramal kepuasan penjaga terhadap pengurusan kanak-kanak dengan gangguan spektrum autisme: Kajian di pelbagai peringkat penjagaan kesihatan}, pengarang = {N A N Adib dan M I Ibrahim dan A A Rahman dan R S Bakar dan N A Yahaya dan S Hussin dan W N A Wan Mansor}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85066861959&doi=10.3390/ijerph16101684&rakan kongsi = 40&md5=7f7b4ccd7484a6dcc6e2f03375b1ffb7}, doi = {10.3390/ijerph16101684}, terbitan = {16617827}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Jurnal Antarabangsa Penyelidikan Alam Sekitar dan Kesihatan Awam}, isi padu = {16}, nombor = {10}, penerbit = {MDPI AG}, abstrak = {Latar belakang: Pengasuh adalah penjaga pintu awal dalam pengurusan penjagaan kesihatan kanak-kanak dengan gangguan spektrum autisme (ASD). Kaedah: Kajian keratan rentas ini bertujuan untuk menentukan faktor-faktor yang berkaitan dengan kepuasan penjaga terhadap tahap perkhidmatan penjagaan kesihatan yang berbeza dalam menguruskan kanak-kanak ASD di Kelantan.. Markah kepuasan daripada 227 penjaga utama kanak-kanak ASD yang disahkan telah dinilai dengan Skala Kepuasan Ibu Bapa yang diubah suai (PSS) soal selidik. Keputusan: Analisis menunjukkan bahawa penjaga yang menunggu lebih lama untuk perundingan doktor dalam penjagaan primer mempunyai skor PSS yang berkurangan, manakala penjaga yang berpuas hati dengan masa menunggu di jagaan primer mempunyai markah PSS yang lebih tinggi. Di peringkat penjagaan menengah, penjaga yang memiliki sekurang-kurangnya diploma telah mengurangkan markah PSS, manakala penjaga yang berpuas hati dengan masa konsultasi doktor dan pelantikan terapi pekerjaan mempunyai markah PSS yang lebih tinggi. Di peringkat penjagaan tertiari, penjaga yang mempunyai masalah perubatan yang mendasari dan yang mempunyai anak yang menjalani terapi pekerjaan selama dua bulan atau lebih telah mengurangkan markah PSS. Namun begitu, analisis menunjukkan bahawa penjaga yang prihatin dengan masalah tidur anak-anak mereka, yang telah dimaklumkan tentang sokongan ibu bapa, yang berpuas hati dengan pelantikan terapi pertuturan dan pekerjaan, yang berpuas hati dengan masa menunggu di klinik penjagaan tertiari, dan yang berpuas hati dengan pengetahuan dan pengalaman doktor mereka mempunyai markah PSS yang lebih tinggi. Kesimpulannya: Kajian ini menjelaskan kepentingan memahami kepuasan penjaga dalam mendapatkan penjagaan untuk anak ASD mereka dan menekankan keperluan untuk mempromosikan faktor yang akan meningkatkan kepuasan penjaga terhadap perkhidmatan ASD semasa.. © 2019 oleh pengarang. MDPI pemegang lesen, Basel, Switzerland.}, nota = {dipetik oleh 0}, kata kunci = {Dewasa, Artikel, Autisme, Gangguan Spektrum Autisme, Pengasuh, Penjagaan Kanak-kanak, Anak-anak, komorbiditi, Perundingan, Kajian Terkawal, Kajian Lintas Bahagian, Perempuan, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Sistem penjagaan kesihatan, Perkhidmatan kesihatan, Pekerja kesihatan, Manusia, Kepuasan kerja, Kelantan, Kajian Klinikal Utama, Malaysia, Lelaki, Pengurusan, Kesihatan mental, Pertengahan umur, Terapi pekerjaan, Soal Selidik Skala Kepuasan Ibu Bapa, Persepsi, Kepuasan Peribadi, Penjagaan Kesihatan Utama, Penjagaan Perubatan Utama, Psikologi, Soal selidik, Kepuasan hati, Penjagaan Kesihatan Sekunder, Terapi ucapan, Tinjauan, Penjagaan Kesihatan Tertiari, West Malaysia}, pubstate = {diterbitkan}, tppubtype = {artikel} } Latar belakang: Pengasuh adalah penjaga pintu awal dalam pengurusan penjagaan kesihatan kanak-kanak dengan gangguan spektrum autisme (ASD). Kaedah: Kajian keratan rentas ini bertujuan untuk menentukan faktor-faktor yang berkaitan dengan kepuasan penjaga terhadap tahap perkhidmatan penjagaan kesihatan yang berbeza dalam menguruskan kanak-kanak ASD di Kelantan.. Markah kepuasan daripada 227 penjaga utama kanak-kanak ASD yang disahkan telah dinilai dengan Skala Kepuasan Ibu Bapa yang diubah suai (PSS) soal selidik. Keputusan: Analisis menunjukkan bahawa penjaga yang menunggu lebih lama untuk perundingan doktor dalam penjagaan primer mempunyai skor PSS yang berkurangan, manakala penjaga yang berpuas hati dengan masa menunggu di jagaan primer mempunyai markah PSS yang lebih tinggi. Di peringkat penjagaan menengah, penjaga yang memiliki sekurang-kurangnya diploma telah mengurangkan markah PSS, manakala penjaga yang berpuas hati dengan masa konsultasi doktor dan pelantikan terapi pekerjaan mempunyai markah PSS yang lebih tinggi. Di peringkat penjagaan tertiari, penjaga yang mempunyai masalah perubatan yang mendasari dan yang mempunyai anak yang menjalani terapi pekerjaan selama dua bulan atau lebih telah mengurangkan markah PSS. Namun begitu, analisis menunjukkan bahawa penjaga yang prihatin dengan masalah tidur anak-anak mereka, yang telah dimaklumkan tentang sokongan ibu bapa, yang berpuas hati dengan pelantikan terapi pertuturan dan pekerjaan, yang berpuas hati dengan masa menunggu di klinik penjagaan tertiari, dan yang berpuas hati dengan pengetahuan dan pengalaman doktor mereka mempunyai markah PSS yang lebih tinggi. Kesimpulannya: Kajian ini menjelaskan kepentingan memahami kepuasan penjaga dalam mendapatkan penjagaan untuk anak ASD mereka dan menekankan keperluan untuk mempromosikan faktor yang akan meningkatkan kepuasan penjaga terhadap perkhidmatan ASD semasa.. © 2019 oleh pengarang. MDPI pemegang lesen, Basel, Switzerland. |
Liu, Y-W; Liong, M T; Am, Y -C E; Huang, H -Y; Peng, W -S; Cheng, Y -F; Lin, Y -S; Wu, Y-Y; Tsai, Y -C Nutrien, 11 (4), 2019, ISSN: 20726643, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Senarai Semak Tingkah Laku Aberrant versi Taiwan, Remaja, umur, Faktor Umur, Keagresifan, Keresahan, Artikel, Gangguan Defisit Perhatian, Autisme, Senarai Semak Tingkah Laku Autisme, Temuduga Diagnostik Autisme Disemak, Gangguan Spektrum Autisme, Tingkah Laku Kanak-kanak, Senarai Semak Tingkah Laku Kanak-kanak, Anak-anak, Skala Teraan Global Klinikal, Gangguan Komunikasi, Kajian Terkawal, Prosedur Double Blind, Kaedah Double-Blind, Perempuan, Gangguan Kebimbangan Umum, Manusia, Impulsif, Lactobacillus delbrueckii, Lelaki, Fisiologi, Placebo, Placebo, Gangguan Tekanan Selepas Traumatik, Agen Probiotik, Probiotik, Psikologi, Soal selidik, Percubaan Terkawal Rawak, Skala penilaian, Budak sekolah, Sistem Pemarkahan, Kelakuan Sosial, Interaksi Sosial, Masalah Sosial, Skala Responsif Sosial, Tinjauan, Penilaian Swanson Nolan dan Pelham IV, Protein Berkaitan Sinaptosomal 23, Taiwan @artikel{Liu2019, tajuk = {Kesan lactobacillus plantarum PS128 pada kanak-kanak dengan gangguan spektrum autisme di Taiwan: A rawak, buta dua, percubaan terkawal plasebo}, pengarang = {Y -W Liu dan M T Liong dan Y -C E Chung dan H -Y Huang dan W -S Peng dan Y -F Cheng dan Y -S Lin dan Y -Y Wu dan Y -C Tsai}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85064817846&doi=10.3390/nu11040820&rakan kongsi = 40&md5=ca04462e8710198b821b44f8e73061f3}, doi = {10.3390/nu11040820}, terbitan = {20726643}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Nutrien}, isi padu = {11}, nombor = {4}, penerbit = {MDPI AG}, abstrak = {Empat minggu ini, rawak, buta dua, kajian terkawal plasebo menyiasat kesan Lactobacillus plantarum PS128 (PS128) pada kanak-kanak lelaki dengan gangguan spektrum autisme (ASD) berumur 7-15 di Taiwan. Semua subjek memenuhi kriteria untuk diagnosis ASD DSM-V dan Temuduga Diagnostik Autisme-Disemak (ADI-R). Soal selidik yang digunakan untuk ukuran hasil utama termasuk versi Senarai Semak Tingkah Laku Autisme-Taiwan (ABC-T), Skala Responsif Sosial (SRS) dan Senarai Semak Tingkah Laku Kanak-kanak (CBCL). Swanson, Nolan, dan versi Pelham-IV-Taiwan (SNAP-IV) dan Penambahbaikan Tera Global Klinikal (CGI-I) digunakan untuk ukuran hasil sekunder. Keputusan menunjukkan bahawa PS128 memperbaiki tingkah laku pembangkang/menentang, dan bahawa jumlah skor SNAP-IV untuk kanak-kanak yang lebih muda (berumur 7−12) meningkat dengan ketara berbanding dengan kumpulan plasebo. Selain itu, beberapa elemen juga telah dipertingkatkan dengan ketara dalam kumpulan PS128 selepas penggunaan PS128 selama 28 hari. Kajian lanjut diperlukan untuk menjelaskan dengan lebih baik kesan PS128 untuk kanak-kanak yang lebih muda dengan ASD pada gejala yang lebih luas. © 2019 oleh pengarang. MDPI pemegang lesen, Basel, Switzerland.}, nota = {dipetik oleh 4}, kata kunci = {Senarai Semak Tingkah Laku Aberrant versi Taiwan, Remaja, umur, Faktor Umur, Keagresifan, Keresahan, Artikel, Gangguan Defisit Perhatian, Autisme, Senarai Semak Tingkah Laku Autisme, Temuduga Diagnostik Autisme Disemak, Gangguan Spektrum Autisme, Tingkah Laku Kanak-kanak, Senarai Semak Tingkah Laku Kanak-kanak, Anak-anak, Skala Teraan Global Klinikal, Gangguan Komunikasi, Kajian Terkawal, Prosedur Double Blind, Kaedah Double-Blind, Perempuan, Gangguan Kebimbangan Umum, Manusia, Impulsif, Lactobacillus delbrueckii, Lelaki, Fisiologi, Placebo, Placebo, Gangguan Tekanan Selepas Traumatik, Agen Probiotik, Probiotik, Psikologi, Soal selidik, Percubaan Terkawal Rawak, Skala penilaian, Budak sekolah, Sistem Pemarkahan, Kelakuan Sosial, Interaksi Sosial, Masalah Sosial, Skala Responsif Sosial, Tinjauan, Penilaian Swanson Nolan dan Pelham IV, Protein Berkaitan Sinaptosomal 23, Taiwan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Empat minggu ini, rawak, buta dua, kajian terkawal plasebo menyiasat kesan Lactobacillus plantarum PS128 (PS128) pada kanak-kanak lelaki dengan gangguan spektrum autisme (ASD) berumur 7-15 di Taiwan. Semua subjek memenuhi kriteria untuk diagnosis ASD DSM-V dan Temuduga Diagnostik Autisme-Disemak (ADI-R). Soal selidik yang digunakan untuk ukuran hasil utama termasuk versi Senarai Semak Tingkah Laku Autisme-Taiwan (ABC-T), Skala Responsif Sosial (SRS) dan Senarai Semak Tingkah Laku Kanak-kanak (CBCL). Swanson, Nolan, dan versi Pelham-IV-Taiwan (SNAP-IV) dan Penambahbaikan Tera Global Klinikal (CGI-I) digunakan untuk ukuran hasil sekunder. Keputusan menunjukkan bahawa PS128 memperbaiki tingkah laku pembangkang/menentang, dan bahawa jumlah skor SNAP-IV untuk kanak-kanak yang lebih muda (berumur 7−12) meningkat dengan ketara berbanding dengan kumpulan plasebo. Selain itu, beberapa elemen juga telah dipertingkatkan dengan ketara dalam kumpulan PS128 selepas penggunaan PS128 selama 28 hari. Kajian lanjut diperlukan untuk menjelaskan dengan lebih baik kesan PS128 untuk kanak-kanak yang lebih muda dengan ASD pada gejala yang lebih luas. © 2019 oleh pengarang. MDPI pemegang lesen, Basel, Switzerland. |
Pichitpunpong, C; Thongkorn, S; Kanlayaprasit, S; Yuwattana, W; Plaingam, W; Sangsuthum, S; Aizat, W M; Baharum, S N; Tencomnao, T; Hu, V W; Sarachana, T PLoS SATU, 14 (3), 2019, ISSN: 19326203, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Artikel, Autisme, Gangguan Spektrum Autisme, Mengikat Protein, Penanda Biologi, Penanda bio, Talian Sel, Kajian Terkawal, Gangguan Perkembangan, Gangguan Bahasa Perkembangan, Perencat Pengikat Diazepam, Protein Perencat Pengikat Diazepam, Keterukan Penyakit, Perempuan, Analisis Genetik, Manusia, Sel Manusia, Keradangan, Gangguan Perkembangan Bahasa, Ketidakupayaan Bahasa, Kromatografi Cecair-Spektrometri Jisim, Sel Limfoblastoid, Kajian Klinikal Utama, Lelaki, Metabolisme, Fenotip, Analisis Protein, Ekspresi Protein, Fungsi Protein, Proteome, Proteomik, Peraturan Transkripsi, Transkriptom, Dadah yang tidak dikelaskan, Blotting Barat @artikel{Pichitpunpong2019, tajuk = {Analisis subkumpulan fenotip dan multi-omik mendedahkan perencat pengikat diazepam yang berkurangan (DBI) tahap protein dalam gangguan spektrum autisme dengan gangguan bahasa yang teruk}, pengarang = {C Pichitpunpong dan S Thongkorn dan S Kanlayaprasit dan W Yuwattana dan W Plaingam dan S Sangsuthum dan W M Aizat dan SN Baharum dan T Tencomnao dan V W Hu dan T Sarachana}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063617126&doi=10.1371/journal.pone.0214198&rakan kongsi = 40&md5=0a4c25481edee56984a59de94fedc414}, doi = {10.1371/jurnal.pone.0214198}, terbitan = {19326203}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {PLoS SATU}, isi padu = {14}, nombor = {3}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Latar Belakang Mekanisme yang mendasari gangguan spektrum autisme (ASD) tetap tidak jelas, dan biomarker klinikal belum tersedia untuk ASD. Perbezaan dalam protein disregulasi dalam ASD telah menunjukkan sedikit kebolehulangan, yang sebahagiannya disebabkan oleh heterogeniti ASD. Kajian terkini telah menunjukkan bahawa subkumpulan kes ASD berdasarkan fenotip klinikal berguna untuk mengenal pasti gen calon yang didisregulasi dalam subkumpulan ASD. Walau bagaimanapun, strategi ini tidak digunakan dalam analisis pemprofilan protein untuk mengenal pasti protein biomarker ASD untuk subkumpulan tertentu. Kaedah Oleh itu, kami menjalankan analisis kelompok Temuduga Diagnostik Autisme-Disemak (ADI-R) markah daripada 85 individu yang mempunyai ASD untuk meramalkan subkumpulan dan kemudiannya mengenal pasti gen disregulasi dengan menganalisis semula profil transkrip individu yang mempunyai ASD dan individu yang tidak terjejas. Profil protein garisan sel limfoblastoid daripada individu ini dilakukan melalui elektroforesis 2D-gel, dan kemudian spektrometri jisim. Protein yang terganggu telah dikenal pasti dan dibandingkan dengan transkrip yang tidak dikawal dan melaporkan protein yang tidak dikawal daripada kajian protein sebelumnya. Fungsi biologi telah diramalkan menggunakan Analisis Laluan Kecerdikan (IPA) program. Protein terpilih juga dianalisis oleh Western blotting. Keputusan Analisis kelompok data ADI-R mendedahkan empat subkumpulan ASD, termasuk ASD dengan kecacatan bahasa yang teruk, dan pemprofilan transkriptom mengenal pasti gen tidak terkawal dalam setiap subkumpulan. Pemeriksaan melalui analisis proteome didedahkan 82 protein yang diubah dalam subkumpulan ASD dengan gangguan bahasa yang teruk. Lapan belas daripada protein ini dikenal pasti lagi oleh nano-LC-MS/MS. Antara protein ini, empat belas telah diramalkan oleh IPA dikaitkan dengan fungsi neurologi dan keradangan. Antara protein ini, perencat pengikat diazepam (DBI) protein telah disahkan oleh analisis Western blot untuk dinyatakan pada tahap penurunan yang ketara dalam subkumpulan ASD dengan gangguan bahasa yang teruk, dan tahap ekspresi DBI dikaitkan dengan markah beberapa item ADI-R. Kesimpulan Dengan subkumpulan individu dengan ASD berdasarkan fenotip klinikal, dan kemudian melakukan analisis transkriptom-proteome bersepadu, kami mengenal pasti DBI sebagai protein calon baru untuk ASD dengan gangguan bahasa yang teruk. Mekanisme protein ini dan potensi penggunaannya sebagai biomarker ASD memerlukan kajian lanjut. © 2019 Pihitpunpong et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan.}, nota = {dipetik oleh 4}, kata kunci = {Artikel, Autisme, Gangguan Spektrum Autisme, Mengikat Protein, Penanda Biologi, Penanda bio, Talian Sel, Kajian Terkawal, Gangguan Perkembangan, Gangguan Bahasa Perkembangan, Perencat Pengikat Diazepam, Protein Perencat Pengikat Diazepam, Keterukan Penyakit, Perempuan, Analisis Genetik, Manusia, Sel Manusia, Keradangan, Gangguan Perkembangan Bahasa, Ketidakupayaan Bahasa, Kromatografi Cecair-Spektrometri Jisim, Sel Limfoblastoid, Kajian Klinikal Utama, Lelaki, Metabolisme, Fenotip, Analisis Protein, Ekspresi Protein, Fungsi Protein, Proteome, Proteomik, Peraturan Transkripsi, Transkriptom, Dadah yang tidak dikelaskan, Blotting Barat}, pubstate = {diterbitkan}, tppubtype = {artikel} } Latar Belakang Mekanisme yang mendasari gangguan spektrum autisme (ASD) tetap tidak jelas, dan biomarker klinikal belum tersedia untuk ASD. Perbezaan dalam protein disregulasi dalam ASD telah menunjukkan sedikit kebolehulangan, yang sebahagiannya disebabkan oleh heterogeniti ASD. Kajian terkini telah menunjukkan bahawa subkumpulan kes ASD berdasarkan fenotip klinikal berguna untuk mengenal pasti gen calon yang didisregulasi dalam subkumpulan ASD. Walau bagaimanapun, strategi ini tidak digunakan dalam analisis pemprofilan protein untuk mengenal pasti protein biomarker ASD untuk subkumpulan tertentu. Kaedah Oleh itu, kami menjalankan analisis kelompok Temuduga Diagnostik Autisme-Disemak (ADI-R) markah daripada 85 individu yang mempunyai ASD untuk meramalkan subkumpulan dan kemudiannya mengenal pasti gen disregulasi dengan menganalisis semula profil transkrip individu yang mempunyai ASD dan individu yang tidak terjejas. Profil protein garisan sel limfoblastoid daripada individu ini dilakukan melalui elektroforesis 2D-gel, dan kemudian spektrometri jisim. Protein yang terganggu telah dikenal pasti dan dibandingkan dengan transkrip yang tidak dikawal dan melaporkan protein yang tidak dikawal daripada kajian protein sebelumnya. Fungsi biologi telah diramalkan menggunakan Analisis Laluan Kecerdikan (IPA) program. Protein terpilih juga dianalisis oleh Western blotting. Keputusan Analisis kelompok data ADI-R mendedahkan empat subkumpulan ASD, termasuk ASD dengan kecacatan bahasa yang teruk, dan pemprofilan transkriptom mengenal pasti gen tidak terkawal dalam setiap subkumpulan. Pemeriksaan melalui analisis proteome didedahkan 82 protein yang diubah dalam subkumpulan ASD dengan gangguan bahasa yang teruk. Lapan belas daripada protein ini dikenal pasti lagi oleh nano-LC-MS/MS. Antara protein ini, empat belas telah diramalkan oleh IPA dikaitkan dengan fungsi neurologi dan keradangan. Antara protein ini, perencat pengikat diazepam (DBI) protein telah disahkan oleh analisis Western blot untuk dinyatakan pada tahap penurunan yang ketara dalam subkumpulan ASD dengan gangguan bahasa yang teruk, dan tahap ekspresi DBI dikaitkan dengan markah beberapa item ADI-R. Kesimpulan Dengan subkumpulan individu dengan ASD berdasarkan fenotip klinikal, dan kemudian melakukan analisis transkriptom-proteome bersepadu, kami mengenal pasti DBI sebagai protein calon baru untuk ASD dengan gangguan bahasa yang teruk. Mekanisme protein ini dan potensi penggunaannya sebagai biomarker ASD memerlukan kajian lanjut. © 2019 Pihitpunpong et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan. |
Tidak juga, N K; Ghozali, A H; Ismail, J Sempadan dalam Pediatrik, 7 (FEB), 2019, ISSN: 22962360, (dipetik oleh 5). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Autisme, Berat badan, Soal Selidik Bingkah Lakuan Autisme Ringkas, Pembangunan kanak-kanak, Obesiti Kanak-kanak, Anak-anak, Soal Selidik Tabiat Tidur Kanak-kanak, Kajian Terkawal, Kajian Lintas Bahagian, Kesukaran Memberi Makan, Perempuan, Penolakan Makanan, Manusia, Kajian Klinikal Utama, Orang Malaysia, Lelaki, Ibu, Zaman Bapa, Aktiviti fizikal, Soal Selidik Aktiviti Fizikal untuk Kanak-kanak Tua, Kelaziman, Soal selidik, Faktor risiko, Gangguan Tidur, Berat badan kurang @artikel{Nor2019, tajuk = {Kelebihan berat badan berlebihan dan obesiti di kalangan kanak-kanak dan remaja dengan gangguan spektrum autisme dan faktor risiko yang berkaitan}, pengarang = {N K Nor dan A H Ghozali dan J Ismail}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-85064414280&dua = 10.3389% 2kurang.2019.00038&rakan kongsi = 40&md5 = 4bb61b1df043a4adf79618e223d77f26}, doi = {10.3389/fped.2019.00038}, terbitan = {22962360}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Sempadan dalam Pediatrik}, isi padu = {7}, nombor = {FEB}, penerbit = {Frontiers Media S.A.}, abstrak = {Pengenalan: Prevalensi obesiti dalam Autism Spectrum Disorder (ASD) telah dilaporkan lebih tinggi daripada pada populasi umum. Menentukan prevalensi dapat membantu meningkatkan kesedaran mengenai kegemukan pada ASD dan berpotensi membawa kepada inisiatif untuk mengurangkan kegemukan. Untuk memahami kegemukan pada kanak-kanak ASD, faktor risiko biasa dinilai termasuk aktiviti fizikal, masalah makan dan gangguan tidur. Kaedah: Ini adalah kajian keratan rentas yang dilakukan di Pusat Perkembangan Kanak-kanak di Pusat Perubatan Universiti Kebangsaan Malaysia pada 151 Kanak-kanak ASD berumur 2-18 tahun. Maklumat antropometrik dan demografi diperoleh dan ibu bapa melengkapkan tiga soal selidik; Soal Selidik Tabiat Tidur Kanak-kanak (CSHQ), Soal Selidik Aktiviti Fizikal untuk Kanak-kanak Tua (PAQ-C) dan Soal Selidik Tingkah Laku Waktu Makan Autisme Ringkas (BAMBI). Keputusan: Untuk kanak-kanak ASD dalam sampel kami, kelaziman berat badan berlebihan (BMI ≥85 hingga < 95th percentiles) was 11.3% and the prevalence of obesity (BMI ≥95th percentile) was 21.9%. The overweight/obese ASD children's median age was higher at 8.5 years (IQR 5.81-10.13) compared to the normal/underweight group of 6.33 years (IQR 4.75-7.7) with a p-value of 0.001. The two groups also differed significantly for maternal BMI and paternal age. The median maternal BMI in the overweight/obese group was 26.05 (IQR 23.35-32.25), statistically significantly higher (p = 0.003) than in the non-overweight/obese group, 24.7 (IQR 21-27.9). The median paternal age of 40 years (IQR 37-44) was statistically significantly higher (p = 0.039) in the overweight/obese group, compared to the median paternal age in the non-overweight/obese group of 38 (IQR 35-42). The male overweight/obese children had median PAQ-C score of 2.44 (IQR 2.00-3.00) vs. 2.89 (IQR 2.35-3.53) in the counterpart group with a p-value of 0.01. Using the multiple linear regression stepwise method, three predictors associated with BMI percentiles reached a statistical level of significance; PAQ-C score in males (p < 0.001), the BAMBI domains of Food Refusal (p = 0.001) and Limited Variety of Food (p = 0.001). Conclusions: The prevalence of obesity and overweight is high among Malaysian ASD children and adolescents. Older child age, high maternal BMI, older paternal age, low physical activity, low likelihood of food refusal and high likelihood of food selectivity were found to be risk factors for high BMI in these children. © 2019 Kamal Nor, Ghozali and Ismail.}, nota = {dipetik oleh 5}, kata kunci = {Remaja, Dewasa, Artikel, Autisme, Berat badan, Soal Selidik Bingkah Lakuan Autisme Ringkas, Pembangunan kanak-kanak, Obesiti Kanak-kanak, Anak-anak, Soal Selidik Tabiat Tidur Kanak-kanak, Kajian Terkawal, Kajian Lintas Bahagian, Kesukaran Memberi Makan, Perempuan, Penolakan Makanan, Manusia, Kajian Klinikal Utama, Orang Malaysia, Lelaki, Ibu, Zaman Bapa, Aktiviti fizikal, Soal Selidik Aktiviti Fizikal untuk Kanak-kanak Tua, Kelaziman, Soal selidik, Faktor risiko, Gangguan Tidur, Berat badan kurang}, pubstate = {diterbitkan}, tppubtype = {artikel} } Pengenalan: Prevalensi obesiti dalam Autism Spectrum Disorder (ASD) telah dilaporkan lebih tinggi daripada pada populasi umum. Menentukan prevalensi dapat membantu meningkatkan kesedaran mengenai kegemukan pada ASD dan berpotensi membawa kepada inisiatif untuk mengurangkan kegemukan. Untuk memahami kegemukan pada kanak-kanak ASD, faktor risiko biasa dinilai termasuk aktiviti fizikal, masalah makan dan gangguan tidur. Kaedah: Ini adalah kajian keratan rentas yang dilakukan di Pusat Perkembangan Kanak-kanak di Pusat Perubatan Universiti Kebangsaan Malaysia pada 151 Kanak-kanak ASD berumur 2-18 tahun. Maklumat antropometrik dan demografi diperoleh dan ibu bapa melengkapkan tiga soal selidik; Soal Selidik Tabiat Tidur Kanak-kanak (CSHQ), Soal Selidik Aktiviti Fizikal untuk Kanak-kanak Tua (PAQ-C) dan Soal Selidik Tingkah Laku Waktu Makan Autisme Ringkas (BAMBI). Keputusan: Untuk kanak-kanak ASD dalam sampel kami, kelaziman berat badan berlebihan (BMI ≥85 hingga < 95persentil ke-) adalah 11.3% dan berlakunya kegemukan (BMI persentil ke-95) adalah 21.9%. Umur rata-rata kanak-kanak ASD yang berlebihan berat badan / gemuk lebih tinggi pada 8.5 tahun (IQR 5.81-10.13) berbanding dengan kumpulan normal / kurang berat badan 6.33 tahun (IQR 4.75-7.7) dengan nilai p 0.001. Kedua-dua kumpulan juga berbeza secara signifikan untuk BMI ibu dan usia bapa. BMI ibu rata-rata dalam kumpulan berat badan berlebihan / gemuk adalah 26.05 (IQR 23.35-32.25), secara statistik lebih tinggi secara signifikan (p = 0.003) berbanding kumpulan yang tidak berlebihan berat badan / gemuk, 24.7 (IQR 21-27.9). Umur bapa median pada 40 tahun (IQR 37-44) secara statistik lebih tinggi secara signifikan (p = 0.039) dalam kumpulan berlebihan berat badan / gemuk, berbanding dengan usia bapa rata-rata pada kumpulan bukan berat badan berlebihan / obes 38 (IQR 35-42). Kanak-kanak lelaki yang berlebihan berat badan / gemuk mempunyai skor PAQ-C median 2.44 (IQR 2.00-3.00) lwn. 2.89 (IQR 2.35-3.53) dalam kumpulan rakan niaga dengan nilai p 0.01. Menggunakan kaedah regresi linear berganda, tiga peramal yang berkaitan dengan persentil BMI mencapai tahap kepentingan statistik; Skor PAQ-C pada lelaki (hlm < 0.001), domain BAMBI dari Penolakan Makanan (p = 0.001) dan Pelbagai Jenis Makanan yang Terhad (p = 0.001). Kesimpulannya: Kelaziman obesiti dan berat badan berlebihan adalah tinggi di kalangan kanak-kanak dan remaja ASD Malaysia. Umur kanak-kanak yang lebih tua, BMI ibu yang tinggi, usia bapa yang lebih tua, aktiviti fizikal yang rendah, kemungkinan rendahnya penolakan makanan dan kemungkinan tinggi pemilihan makanan didapati menjadi faktor risiko BMI tinggi pada kanak-kanak ini. © 2019 Kamal Nor, Ghozali and Ismail. |
2017 |
Hasan, C Z C; Jailani, R; Tahir, Md N; Ilias, S Analisis daya tindak balas tanah tiga dimensi semasa berjalan pada kanak-kanak dengan gangguan spektrum autisme Artikel Jurnal Penyelidikan Ketidakupayaan Pembangunan, 66 , hlm. 55-63, 2017, ISSN: 08914222, (dipetik oleh 8). Abstrak | Pautan | BibTeX | Tag: Taburan Umur, Artikel, Autisme, Gangguan Spektrum Autisme, Fenomena Biomekanikal, Biomekanik, Keseimbangan Badan, Tinggi Badan, Berat badan, Berat badan, Anak-anak, Artikel Klinikal, Kajian Terkawal, Penilaian Penyakit, Perempuan, Langkah, Analisis Gait, Gangguan Gaya Berjalan, Angkatan Tindak Balas Tanah, Manusia, Pengimejan, Panjang Kaki, Malaysia, Lelaki, Pemeriksaan Neurologi, Patofisiologi, Fisiologi, Keseimbangan Postur, Prosedur, Psikologi, Statistik, Tiga Dimensi, Pengimejan Tiga Dimensi, Daya Tindak Balas Tanah Tiga Dimensi, berjalan @artikel{Hasan201755, tajuk = {Analisis daya tindak balas tanah tiga dimensi semasa berjalan pada kanak-kanak dengan gangguan spektrum autisme}, pengarang = {C Z C Hasan and R Jailani and N Md Tahir and S Ilias}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85015640386&doi = 10.1016% 2fj.ridd.2017.02.015&rakan kongsi = 40&md5=d6a9839cda7f62bcce9bdcca33d3d33b}, doi = {10.1016/j.ridd.2017.02.015}, terbitan = {08914222}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Penyelidikan Ketidakupayaan Pembangunan}, isi padu = {66}, halaman = {55-63}, penerbit = {Elsevier Inc.}, abstrak = {Maklumat minimum diketahui tentang tiga dimensi (3D) daya tindak balas tanah (GRF) mengenai corak gaya berjalan individu yang mengalami gangguan spektrum autisme (ASD). Tujuan kajian ini adalah untuk menyiasat sama ada komponen GRF 3D berbeza secara signifikan antara kanak-kanak dengan ASD dan kawalan rakan sebaya.. 15 kanak-kanak dengan ASD dan 25 biasanya berkembang (TD) kanak-kanak telah mengambil bahagian dalam kajian ini. Dua plat daya digunakan untuk mengukur data GRF 3D semasa berjalan. Teknik parameterisasi siri masa telah digunakan untuk mengekstrak 17 ciri diskret daripada bentuk gelombang GRF 3D. Dengan menggunakan ujian-t bebas dan ujian Mann-Whitney U, perbezaan yang ketara (hlm < 0.05) between the ASD and TD groups were found for four GRF features. Children with ASD demonstrated higher maximum braking force, lower relative time to maximum braking force, and lower relative time to zero force during mid-stance. Children with ASD were also found to have reduced the second peak of vertical GRF in the terminal stance. These major findings suggest that children with ASD experience significant difficulties in supporting their body weight and endure gait instability during the stance phase. The findings of this research are useful to both clinicians and parents who wish to provide these children with appropriate treatments and rehabilitation programs. © 2017 Elsevier Ltd}, nota = {dipetik oleh 8}, kata kunci = {Taburan Umur, Artikel, Autisme, Gangguan Spektrum Autisme, Fenomena Biomekanikal, Biomekanik, Keseimbangan Badan, Tinggi Badan, Berat badan, Berat badan, Anak-anak, Artikel Klinikal, Kajian Terkawal, Penilaian Penyakit, Perempuan, Langkah, Analisis Gait, Gangguan Gaya Berjalan, Angkatan Tindak Balas Tanah, Manusia, Pengimejan, Panjang Kaki, Malaysia, Lelaki, Pemeriksaan Neurologi, Patofisiologi, Fisiologi, Keseimbangan Postur, Prosedur, Psikologi, Statistik, Tiga Dimensi, Pengimejan Tiga Dimensi, Daya Tindak Balas Tanah Tiga Dimensi, berjalan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Maklumat minimum diketahui tentang tiga dimensi (3D) daya tindak balas tanah (GRF) mengenai corak gaya berjalan individu yang mengalami gangguan spektrum autisme (ASD). Tujuan kajian ini adalah untuk menyiasat sama ada komponen GRF 3D berbeza secara signifikan antara kanak-kanak dengan ASD dan kawalan rakan sebaya.. 15 kanak-kanak dengan ASD dan 25 biasanya berkembang (TD) kanak-kanak telah mengambil bahagian dalam kajian ini. Dua plat daya digunakan untuk mengukur data GRF 3D semasa berjalan. Teknik parameterisasi siri masa telah digunakan untuk mengekstrak 17 ciri diskret daripada bentuk gelombang GRF 3D. Dengan menggunakan ujian-t bebas dan ujian Mann-Whitney U, perbezaan yang ketara (hlm < 0.05) antara kumpulan ASD dan TD didapati untuk empat ciri GRF. Kanak-kanak dengan ASD menunjukkan daya brek maksimum yang lebih tinggi, masa relatif lebih rendah kepada daya brek maksimum, dan masa relatif lebih rendah kepada daya sifar semasa berdiri pertengahan. Kanak-kanak dengan ASD juga didapati telah mengurangkan puncak kedua GRF menegak dalam pendirian terminal. Penemuan utama ini mencadangkan bahawa kanak-kanak dengan ASD mengalami kesukaran yang ketara dalam menyokong berat badan mereka dan menanggung ketidakstabilan gaya berjalan semasa fasa berdiri.. Penemuan penyelidikan ini berguna kepada kedua-dua doktor dan ibu bapa yang ingin menyediakan kanak-kanak ini dengan rawatan dan program pemulihan yang sesuai. © 2017 Elsevier Ltd. |
Hasan, C Z C; Jailani, R; Tahir, Md N Use of statistical approaches and artificial neural networks to identify gait deviations in children with autism spectrum disorder Artikel Jurnal International Journal of Biology and Biomedical Engineering, 11 , hlm. 74-79, 2017, ISSN: 19984510, (dipetik oleh 1). Abstrak | Pautan | BibTeX | Tag: Artikel, Artificial Neural Network, Autisme, Tinggi Badan, Berat badan, Anak-anak, Artikel Klinikal, Kajian Terkawal, Analisis Diskriminan, Early Diagnosis, Perempuan, Langkah, Analisis Gait, Gangguan Gaya Berjalan, Manusia, Belajar, Lelaki, Pediatrics, Budak sekolah, Statistical Analysis, Statistik, Time Series Analysis @artikel{Hasan201774, tajuk = {Use of statistical approaches and artificial neural networks to identify gait deviations in children with autism spectrum disorder}, pengarang = {C Z C Hasan and R Jailani and N Md Tahir}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85043500605&rakan kongsi = 40&md5=6f2ffe7c2f5daf9fd02d4456acb94438}, terbitan = {19984510}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {International Journal of Biology and Biomedical Engineering}, isi padu = {11}, halaman = {74-79}, penerbit = {North Atlantic University Union NAUN}, abstrak = {Automated differentiation of ASD gait from normal gait patterns is important for early diagnosis as well as ensuring rapid quantitative clinical decision and appropriate treatment planning. This study explores the use of statistical feature selection approaches and artificial neural networks (ANN) for automated identification of gait deviations in children with ASD, on the basis of dominant gait features derived from the three-dimensional (3D) joint kinematic data. The gait data from 30 ASD children and 30 normal healthy children were measured using a state-of-the-art 3D motion analysis system during self-selected speed barefoot walking. Kinematic gait features from the sagittal, frontal and transverse joint angles waveforms at the pelvis, hip, knee, and ankle were extracted using time-series parameterization. Two statistical feature selection techniques, namely the between-group tests (independent samples t-test and Mann-Whitney U test) and the stepwise discriminant analysis (SWDA) were adopted as feature selector to select the meaningful gait features that were then used to train the ANN. The 10-fold cross-validation test results indicate that the selected gait features using SWDA technique are more reliable for ASD gait classification with 91.7% ketepatan, 93.3% kepekaan, dan 90.0% kekhususan. The findings of the current study demonstrate that kinematic gait features with the combination of SWDA feature selector and ANN classifier would serve as a potential tool for early diagnosis of gait deviations in children with ASD as well as provide support to clinicians and therapists for making objective, accurate, and rapid clinical decisions that lead to the appropriate targeted treatments. © 2017 North Atlantic University Union NAUN. Hak cipta terpelihara.}, nota = {dipetik oleh 1}, kata kunci = {Artikel, Artificial Neural Network, Autisme, Tinggi Badan, Berat badan, Anak-anak, Artikel Klinikal, Kajian Terkawal, Analisis Diskriminan, Early Diagnosis, Perempuan, Langkah, Analisis Gait, Gangguan Gaya Berjalan, Manusia, Belajar, Lelaki, Pediatrics, Budak sekolah, Statistical Analysis, Statistik, Time Series Analysis}, pubstate = {diterbitkan}, tppubtype = {artikel} } Automated differentiation of ASD gait from normal gait patterns is important for early diagnosis as well as ensuring rapid quantitative clinical decision and appropriate treatment planning. This study explores the use of statistical feature selection approaches and artificial neural networks (ANN) for automated identification of gait deviations in children with ASD, on the basis of dominant gait features derived from the three-dimensional (3D) joint kinematic data. The gait data from 30 ASD children and 30 normal healthy children were measured using a state-of-the-art 3D motion analysis system during self-selected speed barefoot walking. Kinematic gait features from the sagittal, frontal and transverse joint angles waveforms at the pelvis, hip, knee, and ankle were extracted using time-series parameterization. Two statistical feature selection techniques, namely the between-group tests (independent samples t-test and Mann-Whitney U test) and the stepwise discriminant analysis (SWDA) were adopted as feature selector to select the meaningful gait features that were then used to train the ANN. The 10-fold cross-validation test results indicate that the selected gait features using SWDA technique are more reliable for ASD gait classification with 91.7% ketepatan, 93.3% kepekaan, dan 90.0% kekhususan. The findings of the current study demonstrate that kinematic gait features with the combination of SWDA feature selector and ANN classifier would serve as a potential tool for early diagnosis of gait deviations in children with ASD as well as provide support to clinicians and therapists for making objective, accurate, and rapid clinical decisions that lead to the appropriate targeted treatments. © 2017 North Atlantic University Union NAUN. Hak cipta terpelihara. |
2015 |
Khowaja, K; Salim, S S Heuristics to evaluate interactive systems for children with Autism Spectrum Disorder (ASD) Artikel Jurnal PLoS SATU, 10 (7), 2015, ISSN: 19326203, (dipetik oleh 12). Abstrak | Pautan | BibTeX | Tag: Dewasa, Artikel, Autisme, Gangguan Spektrum Autisme, Pangkalan Data Bibliografi, Anak-anak, Computer Interface, Program komputer, Kajian Terkawal, Evaluation Study, Perempuan, Heuristics, Manusia, Information System, Interactive System, Interrater Reliability, Lelaki, Garis Panduan Amalan, Soal selidik, Software, Tinjauan @artikel{Khowaja2015, tajuk = {Heuristics to evaluate interactive systems for children with Autism Spectrum Disorder (ASD)}, pengarang = {K Khowaja dan S S Salim}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941313427&doi=10.1371/journal.pone.0132187&rakan kongsi = 40&md5=60f3ee4a32fd71be4b842755a58527cf}, doi = {10.1371/jurnal.pone.0132187}, terbitan = {19326203}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {PLoS SATU}, isi padu = {10}, nombor = {7}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Dalam kertas ini, we adapted and expanded a set of guidelines, also known as heuristics, to evaluate the usability of software to now be appropriate for software aimed at children with autism spectrum disorder (ASD). We started from the heuristics developed by Nielsen in 1990 and developed a modified set of 15 heuristics. The first 5 heuristics of this set are the same as those of the original Nielsen set, the next 5 heuristics are improved versions of Nielsen's, whereas the last 5 heuristics are new. We present two evaluation studies of our new heuristics. In the first, two groups compared Nielsen's set with the modified set of heuristics, with each group evaluating two interactive systems. The Nielsen's heuristics were assigned to the control group while the experimental group was given the modified set of heuristics, and a statistical analysis was conducted to determine the effectiveness of the modified set, the contribution of 5 new heuristics and the impact of 5 improved heuristics. The results show that the modified set is significantly more effective than the original, and we found a significant difference between the five improved heuristics and their corresponding heuristics in the original set. The five new heuristics are effective in problem identification using the modified set. The second study was conducted using a system which was developed to ascertain if the modified set was effective at identifying usability problems that could be fixed before the release of software. The post-study analysis revealed that the majority of the usability problems identified by the experts were fixed in the updated version of the system. © 2015 Khowaja, Salim.}, nota = {dipetik oleh 12}, kata kunci = {Dewasa, Artikel, Autisme, Gangguan Spektrum Autisme, Pangkalan Data Bibliografi, Anak-anak, Computer Interface, Program komputer, Kajian Terkawal, Evaluation Study, Perempuan, Heuristics, Manusia, Information System, Interactive System, Interrater Reliability, Lelaki, Garis Panduan Amalan, Soal selidik, Software, Tinjauan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dalam kertas ini, we adapted and expanded a set of guidelines, also known as heuristics, to evaluate the usability of software to now be appropriate for software aimed at children with autism spectrum disorder (ASD). We started from the heuristics developed by Nielsen in 1990 and developed a modified set of 15 heuristics. The first 5 heuristics of this set are the same as those of the original Nielsen set, the next 5 heuristics are improved versions of Nielsen's, whereas the last 5 heuristics are new. We present two evaluation studies of our new heuristics. In the first, two groups compared Nielsen's set with the modified set of heuristics, with each group evaluating two interactive systems. The Nielsen's heuristics were assigned to the control group while the experimental group was given the modified set of heuristics, and a statistical analysis was conducted to determine the effectiveness of the modified set, the contribution of 5 new heuristics and the impact of 5 improved heuristics. The results show that the modified set is significantly more effective than the original, and we found a significant difference between the five improved heuristics and their corresponding heuristics in the original set. The five new heuristics are effective in problem identification using the modified set. The second study was conducted using a system which was developed to ascertain if the modified set was effective at identifying usability problems that could be fixed before the release of software. The post-study analysis revealed that the majority of the usability problems identified by the experts were fixed in the updated version of the system. © 2015 Khowaja, Salim. |
Haerian, B S; Shaári, H M; Tan, H J; Fong, C Y; Wong, S W; Ong, L C; Raymond, A A; Tan, C T; Mohamed, DENGAN Genomics, 105 (4), hlm. 229-236, 2015, ISSN: 08887543, (dipetik oleh 5). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda @artikel{Haerian2015229, tajuk = {RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: A case-control study in Malaysia}, pengarang = {B S Haerian and H M Shaári and H J Tan and C Y Fong and S W Wong and L C Ong and A A Raymond and C T Tan and Z Mohamed}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924135981&doi=10.1016%2fj.ygeno.2015.02.001&rakan kongsi = 40&md5=209a1720cddfd76bfa515ee8940749d5}, doi = {10.1016/j.ygeno.2015.02.001}, terbitan = {08887543}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Genomics}, isi padu = {105}, nombor = {4}, halaman = {229-236}, penerbit = {Academic Press Inc.}, abstrak = {RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.}, nota = {dipetik oleh 5}, kata kunci = {Remaja, Dewasa, Artikel, Case-Control Studies, Kajian Terkawal, DNA, Epilepsi, Epistasis, Perempuan, Gen, Gene Interaction, Genetic Polymorphism, Kecenderungan Genetik, Kecenderungan Genetik kepada Penyakit, Risiko Genetik, Genetic Variability, Genetik, Genotype, Group F, Manusia, Kajian Klinikal Utama, Malaysia, Lelaki, Member 1, Member 2, Pertengahan umur, Nav1.1 Voltage-Gated Sodium Channel, Nuclear Receptor Subfamily 1, Polimorfisme, Jurnal Keutamaan, Retinoid Related Orphan Receptor Alpha, Retinoid Related Orphan Receptor Beta, Risk, RORA Gene, RORA Protein, RORB Protein, SCN1A Gene, SCN1A Protein, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Oleh itu, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p= 0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p= 0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians. © 2015 Elsevier Inc.. |
2014 |
Brett, M; McPherson, J; Vokal, Z J; Lai, A; Tan, E -S; Ng, Saya; Ong, L -C; Cham, B; Tan, P; Bunga mawar, S; Tan, DAN -C PLoS SATU, 9 (4), 2014, ISSN: 19326203, (dipetik oleh 20). Abstrak | Pautan | BibTeX | Tag: Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal @artikel{Brett2014, tajuk = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel}, pengarang = {M Brett and J McPherson and Z J Zang and A Lai and E -S Tan and I Ng and L -C Ong and B Cham and P Tan and S Rozen and E -C Tan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898625023&doi=10.1371/journal.pone.0093409&rakan kongsi = 40&md5=f673e204a009bf84de81ea69dcd026db}, doi = {10.1371/jurnal.pone.0093409}, terbitan = {19326203}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {PLoS SATU}, isi padu = {9}, nombor = {4}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.}, nota = {dipetik oleh 20}, kata kunci = {Artikel, ATRX Gene, Autisme, Gangguan Spektrum Autisme, Anak-anak, Artikel Klinikal, Congenital Abnormalities, Congenital Malformation, Kajian Terkawal, Diagnostic Test, DNA Mutational Analysis, Perempuan, Gen, Profil Ekspresi Gen, Gene Mutation, Penyasaran Gen, Persatuan Genetik, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetik, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Karyotype, L1CAM Gene, Lelaki, Mutation, Nonsense Mutation, Nucleotide Sequence, Fenotip, Polimorfisme, RNA Splice Sites, RNA Splicing, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal}, pubstate = {diterbitkan}, tppubtype = {artikel} } Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322 × to 798 ×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. Walau bagaimanapun, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al. |
Cassidy, S; Panggil, D; Mitchell, P; Kapten, P Can adults with autism spectrum disorders infer what happened to someone from their emotional response? Artikel Jurnal Penyelidikan Autisme, 7 (1), hlm. 112-123, 2014, ISSN: 19393792, (dipetik oleh 21). Abstrak | Pautan | BibTeX | Tag: Ketepatan, Dewasa, Aged, Artikel, Sindrom Asperger, Perhatian, Autisme, Kelakuan, Cacao, Gangguan Perkembangan Kanak-kanak, Artikel Klinikal, Concept Formation, Kajian Terkawal, Deception, Discrimination (Psikologi), Emosi, Pergerakan Mata, Eye Tracking, Face Processing, Ekspresi wajah, Perempuan, Manusia, Interpersonal Relations, Lelaki, Pertengahan umur, Money, Meresap, Jurnal Keutamaan, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Dewasa Muda @artikel{Cassidy2014112, tajuk = {Can adults with autism spectrum disorders infer what happened to someone from their emotional response?}, pengarang = {S Cassidy and D Ropar and P Mitchell and P Chapman}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84894307909&doi=10.1002%2faur.1351&rakan kongsi = 40&md5=8c6736bc006e9eebde29427879d023c3}, doi = {10.1002/aur.1351}, terbitan = {19393792}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {Penyelidikan Autisme}, isi padu = {7}, nombor = {1}, halaman = {112-123}, penerbit = {John Wiley and Sons Inc.}, abstrak = {Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Berkala Wiley, Inc.}, nota = {dipetik oleh 21}, kata kunci = {Ketepatan, Dewasa, Aged, Artikel, Sindrom Asperger, Perhatian, Autisme, Kelakuan, Cacao, Gangguan Perkembangan Kanak-kanak, Artikel Klinikal, Concept Formation, Kajian Terkawal, Deception, Discrimination (Psikologi), Emosi, Pergerakan Mata, Eye Tracking, Face Processing, Ekspresi wajah, Perempuan, Manusia, Interpersonal Relations, Lelaki, Pertengahan umur, Money, Meresap, Jurnal Keutamaan, Recipient, Recognition, Reference Values, Retrodictive Mindreading, Spontaneous Emotion Recognition, Theory of Mind, Video Recording, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } Can adults with autism spectrum disorders (ASD) infer what happened to someone from their emotional response? Millikan has argued that in everyday life, others' emotions are most commonly used to work out the antecedents of behavior, an ability termed retrodictive mindreading. As those with ASD show difficulties interpreting others' emotions, we predicted that these individuals would have difficulty with retrodictive mindreading. Sixteen adults with high-functioning autism or Asperger's syndrome and 19 typically developing adults viewed 21 video clips of people reacting to one of three gifts (chocolate, monopoly money, or a homemade novelty) and then inferred what gift the recipient received and the emotion expressed by that person. Participants' eye movements were recorded while they viewed the videos. Results showed that participants with ASD were only less accurate when inferring who received a chocolate or homemade gift. This difficulty was not due to lack of understanding what emotions were appropriate in response to each gift, as both groups gave consistent gift and emotion inferences significantly above chance (genuine positive for chocolate and feigned positive for homemade). Those with ASD did not look significantly less to the eyes of faces in the videos, and looking to the eyes did not correlate with accuracy on the task. These results suggest that those with ASD are less accurate when retrodicting events involving recognition of genuine and feigned positive emotions, and challenge claims that lack of attention to the eyes causes emotion recognition difficulties in ASD. Autism Res 2014, 7: 112-123. © 2013 International Society for Autism Research, Berkala Wiley, Syarikat. |
Pillai, D; Sheppard, E; Panggil, D; Marsh, L; Pearson, A; Mitchell, P Using other minds as a window onto the world: Guessing what happened from clues in behaviour Artikel Jurnal Jurnal Autisme dan Gangguan Perkembangan, 44 (10), hlm. 2430-2439, 2014, ISSN: 01623257, (dipetik oleh 17). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Autisme, Gangguan Perkembangan Kanak-kanak, Anak-anak, Artikel Klinikal, Kognisi, Kajian Terkawal, Pergerakan Mata, Eye Tracking, Ekspresi wajah, Gaze, Manusia, Intelligence Quotient, Lelaki, Measurement Accuracy, Mouth, Patofisiologi, Meresap, Fisiologi, Aspek Psikologi, Psikologi, Retrodiction, Task Performance, Theory of Mind, Komunikasi Lisan, Video Recording, Videotape Recording, Dewasa Muda @artikel{Pillai20142430, tajuk = {Using other minds as a window onto the world: Guessing what happened from clues in behaviour}, pengarang = {D Pillai and E Sheppard and D Ropar and L Marsh and A Pearson and P Mitchell}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84912053354&doi=10.1007%2fs10803-014-2106-x&rakan kongsi = 40&md5=c3396f6f468e37e253c657f998993859}, doi = {10.1007/s10803-014-2106-x}, terbitan = {01623257}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {Jurnal Autisme dan Gangguan Perkembangan}, isi padu = {44}, nombor = {10}, halaman = {2430-2439}, penerbit = {Springer New York LLC}, abstrak = {It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four ‘‘scenarios’’ each person responded to. Participants’ eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction. © Springer Science+Business Media New York 2014.}, nota = {dipetik oleh 17}, kata kunci = {Remaja, Dewasa, Artikel, Autisme, Gangguan Perkembangan Kanak-kanak, Anak-anak, Artikel Klinikal, Kognisi, Kajian Terkawal, Pergerakan Mata, Eye Tracking, Ekspresi wajah, Gaze, Manusia, Intelligence Quotient, Lelaki, Measurement Accuracy, Mouth, Patofisiologi, Meresap, Fisiologi, Aspek Psikologi, Psikologi, Retrodiction, Task Performance, Theory of Mind, Komunikasi Lisan, Video Recording, Videotape Recording, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } It has been proposed that mentalising involves retrodicting as well as predicting behaviour, by inferring previous mental states of a target. This study investigated whether retrodiction is impaired in individuals with autism spectrum disorders (ASD). Participants watched videos of real people reacting to the researcher behaving in one of four possible ways. Their task was to decide which of these four ‘‘scenarios’’ each person responded to. Participants’ eye movements were recorded. Participants with ASD were poorer than comparison participants at identifying the scenario to which people in the videos were responding. There were no group differences in time spent looking at the eyes or mouth. The findings imply those with ASD are impaired in using mentalising skills for retrodiction. © Springer Science+Business Media New York 2014. |
2013 |
Assaf, M; Hyatt, C J; Wong, C G; Johnson, ENCIK; Schultz, R T; Hendler, T; Pearlson, G D Mentalizing and motivation neural function during social interactions in autism spectrum disorders Artikel Jurnal NeuroImage: klinikal, 3 , hlm. 321-331, 2013, ISSN: 22131582, (dipetik oleh 28). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Autisme, Brain Function, Anak-anak, Komputer, Kajian Terkawal, Perempuan, Pengimejan Resonans Magnetik Berfungsi, Permainan, Groups by Age, Manusia, Kajian Klinikal Utama, Lelaki, Mental Capacity, Middle Temporal Gyrus, Motivasi, Motor Performance, Nerve Cell, Nerve Function, Nucleus Accumbens, Jurnal Keutamaan, Punishment, Ganjaran, Budak sekolah, Kognisi Sosial, Social Environment, Interaksi Sosial, Task Performance, Theory of Mind, Penglihatan @artikel{Assaf2013321, tajuk = {Mentalizing and motivation neural function during social interactions in autism spectrum disorders}, pengarang = {M Assaf and C J Hyatt and C G Wong and M R Johnson and R T Schultz and T Hendler and G D Pearlson}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84885394367&doi=10.1016%2fj.nicl.2013.09.005&rakan kongsi = 40&md5=b63630c997b658167792266e40e855b6}, doi = {10.1016/j.nicl.2013.09.005}, terbitan = {22131582}, tahun = {2013}, tarikh = {2013-01-01}, jurnal = {NeuroImage: klinikal}, isi padu = {3}, halaman = {321-331}, abstrak = {Gangguan Spektrum Autisme (ASDs) are characterized by core deficits in social functions. Two theories have been suggested to explain these deficits: mind-blindness theory posits impaired mentalizing processes (i.e.. decreased ability for establishing a representation of others' state of mind), while social motivation theory proposes that diminished reward value for social information leads to reduced social attention, social interactions, and social learning. Mentalizing and motivation are integral to typical social interactions, and neuroimaging evidence points to independent brain networks that support these processes in healthy individuals. Walau bagaimanapun, the simultaneous function of these networks has not been explored in individuals with ASDs. We used a social, interactive fMRI task, the Domino game, to explore mentalizing- and motivation-related brain activation during a well-defined interval where participants respond to rewards or punishments (i.e.. motivation) and concurrently process information about their opponent's potential next actions (i.e.. mentalizing). Thirteen individuals with high-functioning ASDs, ages 12-24, dan 14 healthy controls played fMRI Domino games against a computer-opponent and separately, what they were led to believe was a human-opponent. Results showed that while individuals with ASDs understood the game rules and played similarly to controls, they showed diminished neural activity during the human-opponent runs only (i.e.. in a social context) in bilateral middle temporal gyrus (MTG) during mentalizing and right Nucleus Accumbens (NAcc) during reward-related motivation (Pcluster < 0.05 FWE). Importantly, deficits were not observed in these areas when playing against a computer-opponent or in areas related to motor and visual processes. These results demonstrate that while MTG and NAcc, which are critical structures in the mentalizing and motivation networks, masing-masing, activate normally in a non-social context, they fail to respond in an otherwise identical social context in ASD compared to controls. We discuss implications to both the mind-blindness and social motivation theories of ASD and the importance of social context in research and treatment protocols. © 2013 Penulis.}, nota = {dipetik oleh 28}, kata kunci = {Remaja, Dewasa, Artikel, Autisme, Brain Function, Anak-anak, Komputer, Kajian Terkawal, Perempuan, Pengimejan Resonans Magnetik Berfungsi, Permainan, Groups by Age, Manusia, Kajian Klinikal Utama, Lelaki, Mental Capacity, Middle Temporal Gyrus, Motivasi, Motor Performance, Nerve Cell, Nerve Function, Nucleus Accumbens, Jurnal Keutamaan, Punishment, Ganjaran, Budak sekolah, Kognisi Sosial, Social Environment, Interaksi Sosial, Task Performance, Theory of Mind, Penglihatan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Gangguan Spektrum Autisme (ASDs) are characterized by core deficits in social functions. Two theories have been suggested to explain these deficits: mind-blindness theory posits impaired mentalizing processes (i.e.. decreased ability for establishing a representation of others' state of mind), while social motivation theory proposes that diminished reward value for social information leads to reduced social attention, social interactions, and social learning. Mentalizing and motivation are integral to typical social interactions, and neuroimaging evidence points to independent brain networks that support these processes in healthy individuals. Walau bagaimanapun, the simultaneous function of these networks has not been explored in individuals with ASDs. We used a social, interactive fMRI task, the Domino game, to explore mentalizing- and motivation-related brain activation during a well-defined interval where participants respond to rewards or punishments (i.e.. motivation) and concurrently process information about their opponent's potential next actions (i.e.. mentalizing). Thirteen individuals with high-functioning ASDs, ages 12-24, dan 14 healthy controls played fMRI Domino games against a computer-opponent and separately, what they were led to believe was a human-opponent. Results showed that while individuals with ASDs understood the game rules and played similarly to controls, they showed diminished neural activity during the human-opponent runs only (i.e.. in a social context) in bilateral middle temporal gyrus (MTG) during mentalizing and right Nucleus Accumbens (NAcc) during reward-related motivation (Pcluster < 0.05 FWE). Importantly, deficits were not observed in these areas when playing against a computer-opponent or in areas related to motor and visual processes. These results demonstrate that while MTG and NAcc, which are critical structures in the mentalizing and motivation networks, masing-masing, activate normally in a non-social context, they fail to respond in an otherwise identical social context in ASD compared to controls. We discuss implications to both the mind-blindness and social motivation theories of ASD and the importance of social context in research and treatment protocols. © 2013 Penulis. |
Modugumudi, Y R; Santhosh, J; Anand, S Efficacy of collaborative virtual environment intervention programs in emotion expression of children with autism Artikel Jurnal Journal of Medical Imaging and Health Informatics, 3 (2), hlm. 321-325, 2013, ISSN: 21567018, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Autisme, Anak-anak, Artikel Klinikal, Collaborative Virtual Environment, Kajian Terkawal, DSM-IV, Elektroencephalogram, Elektroensefalografi, Electrooculogram, Emosi, Ketua Penolong Pengarah, Event Related Potential, Ekspresi wajah, Perempuan, Manusia, Latent Period, Lelaki, Recognition, Budak sekolah @artikel{Modugumudi2013321, tajuk = {Efficacy of collaborative virtual environment intervention programs in emotion expression of children with autism}, pengarang = {Y R Modugumudi and J Santhosh and S Anand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84881262807&doi=10.1166%2fjmihi.2013.1167&rakan kongsi = 40&md5=c8e767c8eba2bbbec5ff36a43eb59af6}, doi = {10.1166/jmihi.2013.1167}, terbitan = {21567018}, tahun = {2013}, tarikh = {2013-01-01}, jurnal = {Journal of Medical Imaging and Health Informatics}, isi padu = {3}, nombor = {2}, halaman = {321-325}, abstrak = {Exploratory empirical studies on Collaborative Virtual Environments (CVEs) were conducted to determine if children with autism could make basic emotional recognition effectively, with the use of CVEs as assistive technology. In this paper we report the results of electro-physiological study of two groups of autistic children after an intervention program with and without using Collaborative Virtual Environment. The group trained with CVE showed better results compared to the group trained without Collaborative virtual Environment. There is an emphasized early emotion expression positivity component at around 120 ms latency for CVE trained group which clearly distinguishes the CVE untrained group. Also there are differences observed in Event Related Potential component at about 170 ms latency after the stimulus. Results indicate that the Collaborative Virtual Environments are effective in training Autistic children. © 2013 American Scientific Publishers.}, nota = {dipetik oleh 4}, kata kunci = {Remaja, Dewasa, Artikel, Autisme, Anak-anak, Artikel Klinikal, Collaborative Virtual Environment, Kajian Terkawal, DSM-IV, Elektroencephalogram, Elektroensefalografi, Electrooculogram, Emosi, Ketua Penolong Pengarah, Event Related Potential, Ekspresi wajah, Perempuan, Manusia, Latent Period, Lelaki, Recognition, Budak sekolah}, pubstate = {diterbitkan}, tppubtype = {artikel} } Exploratory empirical studies on Collaborative Virtual Environments (CVEs) were conducted to determine if children with autism could make basic emotional recognition effectively, with the use of CVEs as assistive technology. In this paper we report the results of electro-physiological study of two groups of autistic children after an intervention program with and without using Collaborative Virtual Environment. The group trained with CVE showed better results compared to the group trained without Collaborative virtual Environment. There is an emphasized early emotion expression positivity component at around 120 ms latency for CVE trained group which clearly distinguishes the CVE untrained group. Also there are differences observed in Event Related Potential component at about 170 ms latency after the stimulus. Results indicate that the Collaborative Virtual Environments are effective in training Autistic children. © 2013 Penerbit Saintifik Amerika. |
Mousavizadeh, K; Askari, M; Arian, H; Gorjipour, F; Nikpour, A R; Fesyen biasa, M; Aryani, THE; Kamalidehghan, B; Maroof, H R; Houshmand, M Association of human mtDNA mutations with autism in Iranian patients Artikel Jurnal Journal of Research in Medical Sciences, 18 (10), hlm. 926, 2013, ISSN: 17351995, (dipetik oleh 2). Pautan | BibTeX | Tag: Autisme, Artikel Klinikal, Kajian Terkawal, Gen, Gene Frequency, Gene Mutation, Gene Sequence, Persatuan Genetik, Risiko Genetik, Manusia, Surat, Mitochondrial DNA, Molecular Phylogeny, Patofisiologi, Titik Mutasi, Polymerase Chain Reaction @artikel{Mousavizadeh2013926, tajuk = {Association of human mtDNA mutations with autism in Iranian patients}, pengarang = {K Mousavizadeh and M Askari and H Arian and F Gorjipour and A R Nikpour and M Tavafjadid and O Aryani and B Kamalidehghan and H R Maroof and M Houshmand}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84887270916&rakan kongsi = 40&md5=3922601b0364489a2b76d620316cc150}, terbitan = {17351995}, tahun = {2013}, tarikh = {2013-01-01}, jurnal = {Journal of Research in Medical Sciences}, isi padu = {18}, nombor = {10}, halaman = {926}, penerbit = {Isfahan University of Medical Sciences(IUMS)}, nota = {dipetik oleh 2}, kata kunci = {Autisme, Artikel Klinikal, Kajian Terkawal, Gen, Gene Frequency, Gene Mutation, Gene Sequence, Persatuan Genetik, Risiko Genetik, Manusia, Surat, Mitochondrial DNA, Molecular Phylogeny, Patofisiologi, Titik Mutasi, Polymerase Chain Reaction}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
2012 |
Tan, E H; Razak, S A; Abdullah, J M; Yusoff, Mohamed A A Epilepsy Research, 102 (3), hlm. 210-215, 2012, ISSN: 09201211, (dipetik oleh 2). Abstrak | Pautan | BibTeX | Tag: Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene @artikel{Tan2012210, tajuk = {De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)}, pengarang = {E H Tan and S A Razak and J M Abdullah and A A Mohamed Yusoff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870296042&doi=10.1016%2fj.eplepsyres.2012.08.004&rakan kongsi = 40&md5=25cc4eeb07db2492a7c04c6b3b3b2167}, doi = {10.1016/j.eplepsyres.2012.08.004}, terbitan = {09201211}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Epilepsy Research}, isi padu = {102}, nombor = {3}, halaman = {210-215}, abstrak = {Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V.}, nota = {dipetik oleh 2}, kata kunci = {Alanine, Amino Acid Substitution, Arginine, Artikel, Asparagine, Aspartic Acid, Anak-anak, Artikel Klinikal, Clinical Feature, Kajian Terkawal, Persatuan Penyakit, DNA Mutational Analysis, DNA Sequence, Elektroensefalografi, Epilepsi, Febrile, Febrile Convulsion, Perempuan, Gen, Gene Frequency, Pengenalan Gen, Generalized, Generalized Epilepsy, Persatuan Genetik, Kecenderungan Genetik, Genetic Screening, Genetic Variability, Glycine, Histidine, Manusia, Bayi, Malaysia, Lelaki, Missense Mutation, Molecular Pathology, Mutation, Mutational Analysis, Mutator Gene, Nav1.1 Voltage-Gated Sodium Channel, Onset Age, Patient Assessment, Polimorfisme, Kanak-kanak Prasekolah, Jurnal Keutamaan, Promoter Region, Budak sekolah, Seizure, Sequence Analysis, Nukleotida Tunggal, Polimorfisme Nukleotida Tunggal, Sodium Channel Nav1.1, Voltage Gated Sodium Channel Alpha1 Subunit Gene}, pubstate = {diterbitkan}, tppubtype = {artikel} } Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Di sini, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations. © 2012 Elsevier B.V. |
Salih, M R M; Laut, M B; Hassali, M A A; Shafie, A A; Al-Lela, Wahai Q B; Abd, Ke dan; Ganesan, V M Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Artikel Jurnal Journal of Neurosciences in Rural Practice, 3 (3), hlm. 244-250, 2012, ISSN: 09763147, (dipetik oleh 1). Abstrak | Pautan | BibTeX | Tag: Remaja, Anticonvulsive Agent, Artikel, Autisme, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Anak-anak, Chinese, Clonazepam, Analisis Kohort, Congenital Toxoplasmosis, Kajian Terkawal, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Gangguan Perkembangan, Disorders of Mitochondrial Functions, Sindrom Down, Epilepsi, Etnik, Etiracetam, Perempuan, Focal Epilepsy, Happy Puppet Syndrome, Manusia, Hydrocephalus, Orang India, Kemerosotan Intelektual, Lamotrigine, Kajian Klinikal Utama, Malay, Lelaki, Medical Record, Microcephaly, Monotherapy, Kanak-kanak Prasekolah, Jurnal Keutamaan, Kajian Retrospektif, Budak sekolah, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease @artikel{Salih2012244, tajuk = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy}, pengarang = {M R M Salih and M B Bahari and M A A Hassali and A A Shafie and O Q B Al-Lela and A Y Abd and V M Ganesan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870233746&doi=10.4103%2f0976-3147.102596&rakan kongsi = 40&md5=039bd22d6c38366ebfdd00a4254c20f0}, doi = {10.4103/0976-3147.102596}, terbitan = {09763147}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Journal of Neurosciences in Rural Practice}, isi padu = {3}, nombor = {3}, halaman = {244-250}, abstrak = {Pengenalan: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 bulan, the required data were extracted from the medical records using a pre-designed data collection form. Keputusan: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. Walau bagaimanapun, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.}, nota = {dipetik oleh 1}, kata kunci = {Remaja, Anticonvulsive Agent, Artikel, Autisme, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Anak-anak, Chinese, Clonazepam, Analisis Kohort, Congenital Toxoplasmosis, Kajian Terkawal, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Gangguan Perkembangan, Disorders of Mitochondrial Functions, Sindrom Down, Epilepsi, Etnik, Etiracetam, Perempuan, Focal Epilepsy, Happy Puppet Syndrome, Manusia, Hydrocephalus, Orang India, Kemerosotan Intelektual, Lamotrigine, Kajian Klinikal Utama, Malay, Lelaki, Medical Record, Microcephaly, Monotherapy, Kanak-kanak Prasekolah, Jurnal Keutamaan, Kajian Retrospektif, Budak sekolah, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease}, pubstate = {diterbitkan}, tppubtype = {artikel} } Pengenalan: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 bulan, the required data were extracted from the medical records using a pre-designed data collection form. Keputusan: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. Walau bagaimanapun, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, masing-masing) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Kesimpulannya: Among children with structural-metabolic epilepsy, Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients. |
Cheah, P -S; Ramshaw, H S; Thomas, P; Toyo-Oka, K; Syiling, X; Martin, S; Coyle, P; Guthridge, M A; Stomski, F; Tetapi, Van Den M; Wynshaw-Boris, A; Lopez, A F; Schwarz, Q Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency Artikel Jurnal Molecular Psychiatry, 17 (4), hlm. 451-466, 2012, ISSN: 13594184, (dipetik oleh 58). Abstrak | Pautan | BibTeX | Tag: 14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Haiwan, Artikel, Autisme, Gangguan Tingkah Laku, Bipolar Disorder, Otak, Cell Movement, Sel, Cognitive Defect, Kajian Terkawal, Berbudaya, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Perempuan, Gen, Gene Deletion, Kecenderungan Genetik kepada Penyakit, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Manusia, Hiperaktif, Inbred C57BL, Isoprotein, Knockout, Belajar, Lelaki, Maze Learning, Memory, Tikus, Motor Activity, Tetikus, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Bukan Manusia, Jurnal Keutamaan, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Faktor risiko, Skizofrenia, Sensory Gating, Synapse, Dadah yang tidak dikelaskan @artikel{Cheah2012451, tajuk = {Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency}, pengarang = {P -S Cheah and H S Ramshaw and P Q Thomas and K Toyo-Oka and X Xu and S Martin and P Coyle and M A Guthridge and F Stomski and M Van Den Buuse and A Wynshaw-Boris and A F Lopez and Q P Schwarz}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84859007028&doi=10.1038%2fmp.2011.158&rakan kongsi = 40&md5=7f507fef31a192a10b3cde7bf69b5442}, doi = {10.1038/mp.2011.158}, terbitan = {13594184}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Molecular Psychiatry}, isi padu = {17}, nombor = {4}, halaman = {451-466}, abstrak = {Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Di sini, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved.}, nota = {dipetik oleh 58}, kata kunci = {14-3-3 Proteins, Animal Experiment, Animal Model, Animal Tissue, Haiwan, Artikel, Autisme, Gangguan Tingkah Laku, Bipolar Disorder, Otak, Cell Movement, Sel, Cognitive Defect, Kajian Terkawal, Berbudaya, Disease Models, Disrupted in Schizophrenia 1 Protein, Embryo, Perempuan, Gen, Gene Deletion, Kecenderungan Genetik kepada Penyakit, Glutamic Acid, Hippocampal Mossy Fiber, Hippocampus, Manusia, Hiperaktif, Inbred C57BL, Isoprotein, Knockout, Belajar, Lelaki, Maze Learning, Memory, Tikus, Motor Activity, Tetikus, Neurogenesis, Neuronal Migration Disorder, Neurons, Neuropsychiatry, Bukan Manusia, Jurnal Keutamaan, Protein 14-3-3, Protein 14-3-3 Zeta, Protein Deficiency, Protein Interaction, Recognition, Faktor risiko, Skizofrenia, Sensory Gating, Synapse, Dadah yang tidak dikelaskan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Complex neuropsychiatric disorders are believed to arise from multiple synergistic deficiencies within connected biological networks controlling neuronal migration, axonal pathfinding and synapse formation. Di sini, we show that deletion of 14-3-3ζ causes neurodevelopmental anomalies similar to those seen in neuropsychiatric disorders such as schizophrenia, autism spectrum disorder and bipolar disorder. 14-3-3ζ-Deficient mice displayed striking behavioural and cognitive deficiencies including a reduced capacity to learn and remember, hyperactivity and disrupted sensorimotor gating. These deficits are accompanied by subtle developmental abnormalities of the hippocampus that are underpinned by aberrant neuronal migration. Significantly, 14-3-3ζ- deficient mice exhibited abnormal mossy fibre navigation and glutamatergic synapse formation. The molecular basis of these defects involves the schizophrenia risk factor, DISC1, which interacts isoform specifically with 14-3-3ζ. Our data provide the first evidence of a direct role for 14-3-3ζ deficiency in the aetiology of neurodevelopmental disorders and identifies 14-3-3ζ as a central risk factor in the schizophrenia protein interaction network. © 2012 Macmillan Publishers Limited All rights reserved. |
2011 |
Freeth, M; Panggil, D; Mitchell, P; Kapten, P; Loher, S Jurnal Autisme dan Gangguan Perkembangan, 41 (3), hlm. 364-371, 2011, ISSN: 01623257, (dipetik oleh 21). Abstrak | Pautan | BibTeX | Tag: Remaja, Artikel, Association, Perhatian, Autisme, Gangguan Perkembangan Kanak-kanak, Anak-anak, Artikel Klinikal, Kajian Terkawal, Cues, Emosi, Eye Fixation, Pergerakan Mata, Eye Tracking, Perempuan, Gaze, Manusia, Intelligence Quotient, Lelaki, Mental Function, Kesihatan mental, Persepsi, Meresap, Photic Stimulation, Photostimulation, Jurnal Keutamaan, Aspek Psikologi, Budak sekolah, Aspek Sosial, Social Perception, Stimulus Response, Komunikasi Lisan, Penglihatan, Persepsi Visual, Visual Stimulation @artikel{Freeth2011364, tajuk = {Brief report: How adolescents with ASD process social information in complex scenes. Combining evidence from eye movements and verbal descriptions}, pengarang = {M Freeth and D Ropar and P Mitchell and P Chapman and S Loher}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-79956006659&doi=10.1007%2fs10803-010-1053-4&rakan kongsi = 40&md5=35b5c8dd813f7eab2963b27081f11e78}, doi = {10.1007/s10803-010-1053-4}, terbitan = {01623257}, tahun = {2011}, tarikh = {2011-01-01}, jurnal = {Jurnal Autisme dan Gangguan Perkembangan}, isi padu = {41}, nombor = {3}, halaman = {364-371}, abstrak = {We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (berumur 11-16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Namun begitu, the verbal descriptions revealed that participants with ASD frequently processed the observed person's emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed. © Springer Science+Business Media, LLC 2010.}, nota = {dipetik oleh 21}, kata kunci = {Remaja, Artikel, Association, Perhatian, Autisme, Gangguan Perkembangan Kanak-kanak, Anak-anak, Artikel Klinikal, Kajian Terkawal, Cues, Emosi, Eye Fixation, Pergerakan Mata, Eye Tracking, Perempuan, Gaze, Manusia, Intelligence Quotient, Lelaki, Mental Function, Kesihatan mental, Persepsi, Meresap, Photic Stimulation, Photostimulation, Jurnal Keutamaan, Aspek Psikologi, Budak sekolah, Aspek Sosial, Social Perception, Stimulus Response, Komunikasi Lisan, Penglihatan, Persepsi Visual, Visual Stimulation}, pubstate = {diterbitkan}, tppubtype = {artikel} } We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (berumur 11-16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Namun begitu, the verbal descriptions revealed that participants with ASD frequently processed the observed person's emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed. © Springer Science+Business Media, LLC 2010. |
2010 |
Sheppard, E; Panggil, D; Di bawah kayu, G; Loon, Dari E Brief report: Driving hazard perception in autism Artikel Jurnal Jurnal Autisme dan Gangguan Perkembangan, 40 (4), hlm. 504-508, 2010, ISSN: 01623257, (dipetik oleh 42). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Association, Autisme, Gangguan Spektrum Autisme, Automobile Driving, Car Driving, Case-Control Studies, Artikel Klinikal, Kajian Terkawal, Hazard Assessment, Manusia, Information Processing, Intelligence Quotient, Lelaki, Kesihatan mental, Motor Dysfunction, Neuropsychological Tests, Persepsi, Photic Stimulation, Jurnal Keutamaan, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Persepsi Visual, Visual Stimulation, Dewasa Muda @artikel{Sheppard2010504, tajuk = {Brief report: Driving hazard perception in autism}, pengarang = {E Sheppard and D Ropar and G Underwood and E Van Loon}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77954458984&doi=10.1007%2fs10803-009-0890-5&rakan kongsi = 40&md5=f0036a737ebb461359baf1bd8b388b23}, doi = {10.1007/s10803-009-0890-5}, terbitan = {01623257}, tahun = {2010}, tarikh = {2010-01-01}, jurnal = {Jurnal Autisme dan Gangguan Perkembangan}, isi padu = {40}, nombor = {4}, halaman = {504-508}, abstrak = {This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (sosial); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00}, nota = {dipetik oleh 42}, kata kunci = {Remaja, Dewasa, Artikel, Association, Autisme, Gangguan Spektrum Autisme, Automobile Driving, Car Driving, Case-Control Studies, Artikel Klinikal, Kajian Terkawal, Hazard Assessment, Manusia, Information Processing, Intelligence Quotient, Lelaki, Kesihatan mental, Motor Dysfunction, Neuropsychological Tests, Persepsi, Photic Stimulation, Jurnal Keutamaan, Reaction Time, Social Perception, Traffic Accident, Traffic Safety, Visual Impairment, Persepsi Visual, Visual Stimulation, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } This study investigated whether individuals with ASD (autistic spectrum disorders) are able to identify driving hazards, given their difficulties processing social information, Klin et al. (Archives of General Psychiatry 59: 809-816, 2002). Twenty-three adult males with ASD and 21 comparison participants viewed 10 video clips containing driving hazards. In half of the clips the source of the hazard was a visible person (sosial); in the other half the source was a car (non-social). Participants with ASD identified fewer social hazards than the comparison participants (U = 163.00 |
2008 |
Tan, K L; Yadav, H Reassessment on the development of children with disability in Malaysia Artikel Jurnal Medical Journal of Malaysia, 63 (1), hlm. 17-20, 2008, ISSN: 03005283, (dipetik oleh 5). Abstrak | Pautan | BibTeX | Tag: Artikel, Autisme, Pembangunan kanak-kanak, Anak-anak, Clinical Assessment Tool, Analisis Kohort, Kajian Terkawal, Gangguan Perkembangan, Developmental Screening, Kanak-kanak Kurang Upaya, Sindrom Down, Keluarga, Perempuan, Susulan, Manusia, Bayi, Gangguan Pembelajaran, Kajian Klinikal Utama, Malaysia, Lelaki, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Prasekolah, Penjagaan Kesihatan Utama, Register, Gangguan Pertuturan, Statistical Significance @artikel{Tan200817, tajuk = {Reassessment on the development of children with disability in Malaysia}, pengarang = {K L Tan and H Yadav}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49649115291&rakan kongsi = 40&md5=8838ddaa3d9906d8b696be13e88f1baa}, terbitan = {03005283}, tahun = {2008}, tarikh = {2008-01-01}, jurnal = {Medical Journal of Malaysia}, isi padu = {63}, nombor = {1}, halaman = {17-20}, abstrak = {This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. Sejumlah 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autisme, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment.}, nota = {dipetik oleh 5}, kata kunci = {Artikel, Autisme, Pembangunan kanak-kanak, Anak-anak, Clinical Assessment Tool, Analisis Kohort, Kajian Terkawal, Gangguan Perkembangan, Developmental Screening, Kanak-kanak Kurang Upaya, Sindrom Down, Keluarga, Perempuan, Susulan, Manusia, Bayi, Gangguan Pembelajaran, Kajian Klinikal Utama, Malaysia, Lelaki, Mental Deficiency, Patient Selection, Pediatric Rehabilitation, Prasekolah, Penjagaan Kesihatan Utama, Register, Gangguan Pertuturan, Statistical Significance}, pubstate = {diterbitkan}, tppubtype = {artikel} } This is a cohort study investigating the profile of children with disability registered with the primary health care clinics in Malaysia. The purpose of the study was to determine whether reassessment on the development of children with disability under rehabilitation should be done at three months interval or six months interval. Secondary data from the pilot project conducted by the Family Health Development Division, Ministry of Health Malaysia was used in this study. The study was carried out for seven months from 1st August 2004 until 28th February 2005. Sejumlah 168 disabled children followed up for six months were selected in this study. Schedule of Growing Scale (SGS) II was the tool used for analysis. Results showed a statistically significant difference in the mean total SGS score at six months interval but not at three months interval. The result suggests that reassessment on children with Down Syndrome, Autisme, Cerebral Palsy, mental retardation and delayed speech under rehabilitation should be carried out every six months while children with gross developmental delay and slow learner might need a longer interval for reassessment. |