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:
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2020 |
Leong, D; Hedley, D; Uljarevic, M Poh-tay-toe, Poh-tah-toe: Diagnosis dan Konseptualisasi Autisme Artikel Jurnal Jurnal Neurologi Kanak-kanak, 35 (3), hlm. 247-248, 2020, ISSN: 08830738, (dipetik oleh 0). Pautan | BibTeX | Tag: Keresahan, Gangguan Defisit Perhatian, Autisme, Pengasuh, Anak-anak, Artikel Klinikal, Amalan Klinikal, Kelakuan Mengganggu, DSM-5, Susulan, Manusia, Gangguan Pembelajaran, Surat, Kesihatan mental, Gangguan Mood, Pasukan Pelbagai Disiplin, Neuropsychiatry, Jurnal Keutamaan, Pengangguran, Tenaga kerja @artikel{Leong2020247, tajuk = {Poh-tay-toe, Poh-tah-toe: Diagnosis dan Konseptualisasi Autisme}, pengarang = {D Leong dan D Hedley dan M Uljarević}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-85078570091&doi = 10.1177% 2f0883073819887587&rakan kongsi = 40&md5 = f40e68dc7723d94e6c9dfeb9820558a4}, doi = {10.1177/0883073819887587}, terbitan = {08830738}, tahun = {2020}, tarikh = {2020-01-01}, jurnal = {Jurnal Neurologi Kanak-kanak}, isi padu = {35}, nombor = {3}, halaman = {247-248}, penerbit = {SAGE Publications Inc.}, nota = {dipetik oleh 0}, kata kunci = {Keresahan, Gangguan Defisit Perhatian, Autisme, Pengasuh, Anak-anak, Artikel Klinikal, Amalan Klinikal, Kelakuan Mengganggu, DSM-5, Susulan, Manusia, Gangguan Pembelajaran, Surat, Kesihatan mental, Gangguan Mood, Pasukan Pelbagai Disiplin, Neuropsychiatry, Jurnal Keutamaan, Pengangguran, Tenaga kerja}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
2018 |
Tsuchida, N; Hamada, K; Shiina, M; Kato, M; Kobayashi, Y; Tohyama, J; Kimura, K; Hoshino, K; Ganesan, V; Teik, K W; Nakashima, M; Mitsuhashi, S; Mizuguchi, T; Takata, A; Miyake, N; Saitsu, H; Ogata, K; Miyatake, S; Matsumoto, N GRIN2D variants in three cases of developmental and epileptic encephalopathy Artikel Jurnal Clinical Genetics, 94 (6), hlm. 538-547, 2018, ISSN: 00099163, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing @artikel{Tsuchida2018538, tajuk = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, pengarang = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&rakan kongsi = 40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, terbitan = {00099163}, tahun = {2018}, tarikh = {2018-01-01}, jurnal = {Clinical Genetics}, isi padu = {94}, nombor = {6}, halaman = {538-547}, penerbit = {Blackwell Publishing Ltd}, abstrak = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd}, nota = {dipetik oleh 4}, kata kunci = {Remaja, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Artikel, Atonic Seizure, Gangguan Defisit Perhatian, Autisme, Binding Affinity, Otak, Brain Atrophy, Carbamazepine, Laporan kes, Channel Gating, Kimia, Anak-anak, Artikel Klinikal, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Kelewatan Perkembangan, Gangguan Perkembangan, Elektroencephalogram, Elektroensefalografi, Epilepsi, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Perempuan, Frontal Lobe Epilepsy, Gen, Gene Frequency, Genetic Variation, Genetik, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Manusia, Sel Manusia, Hydrogen Bond, Kemerosotan Intelektual, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Lelaki, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, Budak sekolah, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing}, pubstate = {diterbitkan}, tppubtype = {artikel} } N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Baru-baru ini, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. Dalam kajian ini, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
Diurut, R Tingkah laku merangsang dalam kanak-kanak perempuan berusia 4 tahun dengan gangguan spektrum autisme Artikel Jurnal Laporan Kes BMJ, 2018 , 2018, ISSN: 1757790X, (dipetik oleh 0). Pautan | BibTeX | Tag: Autisme, Gangguan Spektrum Autisme, biskut, Menggigit Objek Keras, Laporan kes, Mainan Kunyah, Keselamatan Kanak-kanak, Anak-anak, Artikel Klinikal, Perempuan, Makanan, Tekstur Makanan, Makanan panas, Manusia, Ketidakupayaan Bahasa, Nota, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Psikologi, Rangsangan Diri, Makanan pedas, Kelakuan Stereotaip, Stereotaip, Tingkah Laku Merangsang, Biskut Tumbuh Gigi, sayur @artikel{Masiran2018, tajuk = {Tingkah laku merangsang dalam kanak-kanak perempuan berusia 4 tahun dengan gangguan spektrum autisme}, pengarang = {R Diurut}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042604824&doi = 10.1136% 2fbcr-2017-223671&rakan kongsi = 40&md5=c7b6514a4758257be1360250bf120de3}, doi = {10.1136/bcr-2017-223671}, terbitan = {1757790X}, tahun = {2018}, tarikh = {2018-01-01}, jurnal = {Laporan Kes BMJ}, isi padu = {2018}, penerbit = {Kumpulan Penerbitan BMJ}, nota = {dipetik oleh 0}, kata kunci = {Autisme, Gangguan Spektrum Autisme, biskut, Menggigit Objek Keras, Laporan kes, Mainan Kunyah, Keselamatan Kanak-kanak, Anak-anak, Artikel Klinikal, Perempuan, Makanan, Tekstur Makanan, Makanan panas, Manusia, Ketidakupayaan Bahasa, Nota, Prasekolah, Kanak-kanak Prasekolah, Jurnal Keutamaan, Psikologi, Rangsangan Diri, Makanan pedas, Kelakuan Stereotaip, Stereotaip, Tingkah Laku Merangsang, Biskut Tumbuh Gigi, sayur}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
Diurut, R Autisme dan trikotilomania dalam remaja lelaki Artikel Jurnal Laporan Kes BMJ, 2018 , 2018, ISSN: 1757790X, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Remaja, Alopecia, Keresahan, Artikel, Gangguan Defisit Perhatian, Gangguan Hiperaktifan Kekurangan Perhatian, Autisme, Gangguan Spektrum Autisme, Gangguan Tingkah Laku, Berat badan, Laporan kes, Perangsang Sistem Saraf Pusat, Senarai Semak Tingkah Laku Kanak-kanak, Artikel Klinikal, komorbiditi, Komplikasi, Diagnosis, Berbeza, Diagnosis pembezaan, Pentitratan Dos Ubat, Toleransi Dadah, DSM-5, Echolalia, Fluvoxamine, Susulan, Manusia, Hiperaktif, Kemerosotan Intelektual, Lelaki, Metilfenidat, Obesiti, Terapi pekerjaan, Indeks Penaakulan Persepsi, Jurnal Keutamaan, Indeks Kelajuan Pemprosesan, Skala Penarafan Status Psikiatri, Skala Penarafan Psikologi, Skala penilaian, Kegelisahan, Ganjaran, Perencat Serapan Serotonin, Perencat Serapan Serotonin, Pendidikan Khas, Kelewatan Pertuturan, Gangguan Pertuturan, Terapi ucapan, Trikotilomania, Indeks Kefahaman Lisan, Skala Kepintaran Wechsler, Indeks Memori Bekerja @artikel{Masiran2018b, tajuk = {Autisme dan trikotilomania dalam remaja lelaki}, pengarang = {R Diurut}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053164449&doi = 10.1136% 2fbcr-2018-226270&rakan kongsi = 40&md5=7eed3f6af717df527dce73838feab571}, doi = {10.1136/bcr-2018-226270}, terbitan = {1757790X}, tahun = {2018}, tarikh = {2018-01-01}, jurnal = {Laporan Kes BMJ}, isi padu = {2018}, penerbit = {Kumpulan Penerbitan BMJ}, abstrak = {Remaja yang mengalami gangguan spektrum autisme dan gangguan hiperaktif kekurangan perhatian yang tidak dirawat dengan betul ditunjukkan dengan tarikan rambut berulang. Rawatan dengan perencat pengambilan semula serotonin terpilih dan perangsang memperbaiki keadaan ini. © © BMJ Publishing Group Limited 2018.}, nota = {dipetik oleh 0}, kata kunci = {Remaja, Alopecia, Keresahan, Artikel, Gangguan Defisit Perhatian, Gangguan Hiperaktifan Kekurangan Perhatian, Autisme, Gangguan Spektrum Autisme, Gangguan Tingkah Laku, Berat badan, Laporan kes, Perangsang Sistem Saraf Pusat, Senarai Semak Tingkah Laku Kanak-kanak, Artikel Klinikal, komorbiditi, Komplikasi, Diagnosis, Berbeza, Diagnosis pembezaan, Pentitratan Dos Ubat, Toleransi Dadah, DSM-5, Echolalia, Fluvoxamine, Susulan, Manusia, Hiperaktif, Kemerosotan Intelektual, Lelaki, Metilfenidat, Obesiti, Terapi pekerjaan, Indeks Penaakulan Persepsi, Jurnal Keutamaan, Indeks Kelajuan Pemprosesan, Skala Penarafan Status Psikiatri, Skala Penarafan Psikologi, Skala penilaian, Kegelisahan, Ganjaran, Perencat Serapan Serotonin, Perencat Serapan Serotonin, Pendidikan Khas, Kelewatan Pertuturan, Gangguan Pertuturan, Terapi ucapan, Trikotilomania, Indeks Kefahaman Lisan, Skala Kepintaran Wechsler, Indeks Memori Bekerja}, pubstate = {diterbitkan}, tppubtype = {artikel} } Remaja yang mengalami gangguan spektrum autisme dan gangguan hiperaktif kekurangan perhatian yang tidak dirawat dengan betul ditunjukkan dengan tarikan rambut berulang. Rawatan dengan perencat pengambilan semula serotonin terpilih dan perangsang memperbaiki keadaan ini. © © BMJ Publishing Group Limited 2018. |
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. |
Shuib, S; Saaid, N N; Zakaria, DENGAN; Ismail, J; Latiff, Abdul Z Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan Artikel Jurnal Jurnal Patologi Malaysia, 39 (1), hlm. 77-81, 2017, ISSN: 01268635, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu @artikel{Shuib201777, tajuk = {Penduaan 17p11.2 (Sindrom Potocki-Lupski) pada kanak-kanak yang mengalami kelewatan perkembangan}, pengarang = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&rakan kongsi = 40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9}, terbitan = {01268635}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Jurnal Patologi Malaysia}, isi padu = {39}, nombor = {1}, halaman = {77-81}, penerbit = {Persatuan Pakar Patologi Malaysia}, abstrak = {Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara.}, nota = {dipetik oleh 0}, kata kunci = {Keabnormalan, Agarose, Artikel, Autisme, Gangguan Spektrum Autisme, Budaya Darah, Laporan kes, Anak-anak, Kromosom 17, Analisis Kromosom, Gangguan Kromosom, Penduaan Kromosom, Kromosom, Artikel Klinikal, Hibridisasi Genomik Perbandingan, Kelewatan Perkembangan, Elektroforesis, Perempuan, Pendarfluor, Pendarfluor dalam Hibridisasi Situ, Gen, Pengenalan Gen, Genetik, DNA genomik, Manusia, Hibridisasi In Situ, Kultur Limfosit, Analisis Mikroarray, Pelbagai, Sindrom Malformasi Pelbagai, berpasangan 17, Fenotip, Sindrom Potocki Lupski, Prasekolah, Kanak-kanak Prasekolah, Prosedur, Gen RAI1, Spektrofotometri ultraungu}, pubstate = {diterbitkan}, tppubtype = {artikel} } Sindrom Potocki-Lupski (PTLS), juga dikenali sebagai sindrom duplikasi 17p11.2, trisomi 17p11.2 atau dup(17)(p11.2p11.2) sindrom, adalah gangguan perkembangan dan sindrom gen bersebelahan yang jarang menjejaskan 1 dalam 20,000 kelahiran hidup. Antara ciri utama pesakit tersebut ialah gangguan spektrum autisme, ketidakupayaan pembelajaran, kelewatan perkembangan, gangguan kurang perhatian, hipotonia bayi dan keabnormalan kardiovaskular. Kajian terdahulu menggunakan microarray mengenal pasti variasi dalam saiz dan takat kawasan pendua kromosom 17p11.2. Walau bagaimanapun, terdapat beberapa gen yang dianggap sebagai calon PTLS termasuk RAI1, SREBF1, DRG2, LLGL1, SHMT1 dan ZFP179. Dalam laporan ini, kami menyiasat kes seorang kanak-kanak perempuan berumur 3 tahun yang mengalami kelewatan perkembangan. Analisis kromosomnya menunjukkan karyotype normal (46,XX). Analisis menggunakan tatasusunan CGH (4X44 K, Agilent USA) mengenal pasti pertindihan ~4.2 Mb de novo dalam kromosom 17p11.2. Hasilnya disahkan oleh hibridisasi in situ pendarfluor (IKAN) menggunakan probe di kawasan PTLS kritikal. Laporan ini menunjukkan kepentingan microarray dan FISH dalam diagnosis PTLS. © 2017, Persatuan Pakar Patologi Malaysia. Hak cipta terpelihara. |
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. |
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 |
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. |
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 |