2018 |
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. |
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 |
2017 |
Charara, R; Forouzanfar, M; Naghavi, M; Moradi-Lakeh, M; Afshin, A; Anda, T; Daoud, F; Wang, H; Bcheraoui, TERDAPAT; Khalil, Saya; Hamadeh, R R; Khosravi, A; Rahimi-Movaghar, V; Khader, Y; Al-Hamad, N; Obermeyer, C M; Rafay, A; Asghar, R; Rana, S M; Shaheen, A; Abu-Rmeileh, N M E; Husseini, A; Abu-Raddad, L J; Khoja, T; Rayess, Z A A; AlBuhairan, F S; Hsairi, M; Alomari, M A; Tetapi, R; Roshandel, G; Terkawi, A S; Hamidi, S; Refaat, A H; Westerman, R; Kiadaliri, A A; Akanda, A S; Tetapi, S D; Bacha, U; Badawi, A; Bazargan-Hejazi, S; Faghmous, Saya A D; Fereshtehnejad, S -M; Fischer, F; Jonas, J B; Lalai, B K; Mehari, A; Omer, S B; Pourmalek, F; Uthman, Wahai A; Mokdad, A A; Maalouf, F T; Abd-Allah, F; Akseer, N; Arya, D; Borschmann, R; Brazinova, A; Brugha, T S; Catala-Lopez, F; Degenhardt, L; Ferrari, A; Haro, J M; Horino, M; Hornberger, J C; Huang, H; Kieling, C; Kim, D; Kim, Y; Knudsen, Seorang K; Mitchell, P B; Patton, G; Sagar, R; Satpati, M; Savuon, K; Seedat, S; Shiue, Saya; Hutan, J C; Stein, D J; Tabb, K M; Whiteford, H A; Yip, P; Yonemoto, N; Murray, C J L; Mokdad, A H The burden of mental disorders in the eastern mediterranean region, 1990-2013 Artikel Jurnal PLoS SATU, 12 (1), 2017, ISSN: 19326203, (dipetik oleh 30). Abstrak | Pautan | BibTeX | Tag: 80 and Over, Remaja, Dewasa, umur, Faktor Umur, Aged, Anxiety Disorder, Artikel, Gangguan Defisit Perhatian, Autisme, Bipolar Disorder, Anak-anak, Conduct Disorder, Kemurungan, Elderly People, Perempuan, Global Health, Groups by Age, Status kesihatan, Highest Income Group, Manusia, Bayi, Kemerosotan Intelektual, Kuwait, Life Expectancy, Kajian Klinikal Utama, Lelaki, Mediterranean Region, Mental Disease, Gangguan Mental, Kesihatan mental, Perkhidmatan Kesihatan Mental, Pertengahan umur, Middle Income Group, Mortality, Baru lahir, Palestine, Premature Mortality, Prasekolah, Kanak-kanak Prasekolah, Kelaziman, Qatar, Quality Adjusted Life Year, Skizofrenia, Sex Difference, Faktor Seks, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Dewasa Muda @artikel{Charara2017, tajuk = {The burden of mental disorders in the eastern mediterranean region, 1990-2013}, pengarang = {R Charara and M Forouzanfar and M Naghavi and M Moradi-Lakeh and A Afshin and T Vos and F Daoud and H Wang and C E Bcheraoui and I Khalil and R R Hamadeh and A Khosravi and V Rahimi-Movaghar and Y Khader and N Al-Hamad and C M Obermeyer and A Rafay and R Asghar and S M Rana and A Shaheen and N M E Abu-Rmeileh and A Husseini and L J Abu-Raddad and T Khoja and Z A A Rayess and F S AlBuhairan and M Hsairi and M A Alomari and R Ali and G Roshandel and A S Terkawi and S Hamidi and A H Refaat and R Westerman and A A Kiadaliri and A S Akanda and S D Ali and U Bacha and A Badawi and S Bazargan-Hejazi and I A D Faghmous and S -M Fereshtehnejad and F Fischer and J B Jonas and B K Defo and A Mehari and S B Omer and F Pourmalek and O A Uthman and A A Mokdad and F T Maalouf and F Abd-Allah and N Akseer and D Arya and R Borschmann and A Brazinova and T S Brugha and F Catala-Lopez and L Degenhardt and A Ferrari and J M Haro and M Horino and J C Hornberger and H Huang and C Kieling and D Kim and Y Kim and A K Knudsen and P B Mitchell and G Patton and R Sagar and M Satpathy and K Savuon and S Seedat and I Shiue and J C Skogen and D J Stein and K M Tabb and H A Whiteford and P Yip and N Yonemoto and C J L Murray and A H Mokdad}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85009892168&doi=10.1371/journal.pone.0169575&rakan kongsi = 40&md5=471830ec1239e37c6fc4681bed5698f6}, doi = {10.1371/jurnal.pone.0169575}, terbitan = {19326203}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {PLoS SATU}, isi padu = {12}, nombor = {1}, penerbit = {Perpustakaan Awam Sains}, abstrak = {The Eastern Mediterranean Region (EMR) is witnessing an increase in chronic disorders, including mental illness. With ongoing unrest, this is expected to rise. This is the first study to quantify the burden of mental disorders in the EMR. We used data from the Global Burden of Disease study (GBD) 2013. DALYs (disability-adjusted life years) allow assessment of both premature mortality (years of life lost-YLLs) and nonfatal outcomes (years lived with disability-YLDs). DALYs are computed by adding YLLs and YLDs for each age-sex-country group. Dalam 2013, mental disorders contributed to 5.6% of the total disease burden in the EMR (1894 DALYS/100,000 population): 2519 DALYS/100,000 (2590/100,000 jantan, 2426/100,000 perempuan) in high-income countries, 1884 DALYS/100,000 (1618/100,000 jantan, 2157/100,000 perempuan) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 jantan, 1717/100,000 perempuan) in low-income countries. Females had a greater proportion of burden due to mental disorders than did males of equivalent ages, except for those under 15 years of age. The highest proportion of DALYs occurred in the 25-49 age group, with a peak in the 35-39 years age group (5344 DALYs/100,000). The burden of mental disorders Burden of Mental Disorders in EMR PLOS ONE in EMR increased from 1726 DALYs/100,000 in 1990 ke 1912 DALYs/100,000 in 2013 (10.8% increase). Within the mental disorders group in EMR, depressive disorders accounted for most DALYs, followed by anxiety disorders. Among EMR countries, Palestine had the largest burden of mental disorders. Nearly all EMR countries had a higher mental disorder burden compared to the global level. Our findings call for EMR ministries of health to increase provision of mental health services and to address the stigma of mental illness. Lebih-lebih lagi, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Sesungguhnya, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara 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 30}, kata kunci = {80 and Over, Remaja, Dewasa, umur, Faktor Umur, Aged, Anxiety Disorder, Artikel, Gangguan Defisit Perhatian, Autisme, Bipolar Disorder, Anak-anak, Conduct Disorder, Kemurungan, Elderly People, Perempuan, Global Health, Groups by Age, Status kesihatan, Highest Income Group, Manusia, Bayi, Kemerosotan Intelektual, Kuwait, Life Expectancy, Kajian Klinikal Utama, Lelaki, Mediterranean Region, Mental Disease, Gangguan Mental, Kesihatan mental, Perkhidmatan Kesihatan Mental, Pertengahan umur, Middle Income Group, Mortality, Baru lahir, Palestine, Premature Mortality, Prasekolah, Kanak-kanak Prasekolah, Kelaziman, Qatar, Quality Adjusted Life Year, Skizofrenia, Sex Difference, Faktor Seks, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Dewasa Muda}, pubstate = {diterbitkan}, tppubtype = {artikel} } The Eastern Mediterranean Region (EMR) is witnessing an increase in chronic disorders, including mental illness. With ongoing unrest, this is expected to rise. This is the first study to quantify the burden of mental disorders in the EMR. We used data from the Global Burden of Disease study (GBD) 2013. DALYs (disability-adjusted life years) allow assessment of both premature mortality (years of life lost-YLLs) and nonfatal outcomes (years lived with disability-YLDs). DALYs are computed by adding YLLs and YLDs for each age-sex-country group. Dalam 2013, mental disorders contributed to 5.6% of the total disease burden in the EMR (1894 DALYS/100,000 population): 2519 DALYS/100,000 (2590/100,000 jantan, 2426/100,000 perempuan) in high-income countries, 1884 DALYS/100,000 (1618/100,000 jantan, 2157/100,000 perempuan) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 jantan, 1717/100,000 perempuan) in low-income countries. Females had a greater proportion of burden due to mental disorders than did males of equivalent ages, except for those under 15 years of age. The highest proportion of DALYs occurred in the 25-49 age group, with a peak in the 35-39 years age group (5344 DALYs/100,000). The burden of mental disorders Burden of Mental Disorders in EMR PLOS ONE in EMR increased from 1726 DALYs/100,000 in 1990 ke 1912 DALYs/100,000 in 2013 (10.8% increase). Within the mental disorders group in EMR, depressive disorders accounted for most DALYs, followed by anxiety disorders. Among EMR countries, Palestine had the largest burden of mental disorders. Nearly all EMR countries had a higher mental disorder burden compared to the global level. Our findings call for EMR ministries of health to increase provision of mental health services and to address the stigma of mental illness. Lebih-lebih lagi, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Sesungguhnya, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara 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. |
Di mana, S W; Ong, L C; Rendah, W Y; Lai, P S M Epilepsy Research, 136 , hlm. 35-45, 2017, ISSN: 09201211, (dipetik oleh 8). Abstrak | Pautan | BibTeX | Tag: Academic Achievement, Academic Success, Achievement, Sikap Terhadap Kesihatan, Autisme, Benign Childhood Epilepsy, Anak-anak, Children with Epilepsy, Analisis Kohort, komorbiditi, Kajian Lintas Bahagian, Bahasa Inggeris (Bahasa), Epilepsi, Manusia, Kemerosotan Intelektual, Intelligence, Intelligence Quotient, Gangguan Pembelajaran, Observational Study, Parenting Education, Jurnal Keutamaan, Psikologi, Recurrent Disease, Recurrent Epilepsy, Kaji semula, Sistem Pemarkahan, Kajian Sistematik, Underachievement @artikel{Wo201735, tajuk = {The impact of epilepsy on academic achievement in children with normal intelligence and without major comorbidities: Kajian semula yang sistematik}, pengarang = {S W Wo and L C Ong and W Y Low and P S M Lai}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85025636897&doi=10.1016%2fj.eplepsyres.2017.07.009&rakan kongsi = 40&md5=f34a0aada2cc5dc6e4d6beab18ac779c}, doi = {10.1016/j.eplepsyres.2017.07.009}, terbitan = {09201211}, tahun = {2017}, tarikh = {2017-01-01}, jurnal = {Epilepsy Research}, isi padu = {136}, halaman = {35-45}, penerbit = {Elsevier B.V.}, abstrak = {Purpose To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) kecerdasan normal, and its associating factors. Methods A search was conducted on five databases for articles published in English from 1980 till March 2015. Included were studies who recruited children (aged 5–18 years), with a diagnosis or newly/recurrent epilepsy, an intelligent quotient (IQ) of ≥70 or attending regular school, with or without a control group, which measured academic achievement using a standardised objective measure, and published in English. Excluded were children with learning difficulties, kecacatan intelektual (IQ < 70) and other comorbidities such as attention deficits hyperactive disorder or autism. Two pairs of reviewers extracted the data, and met to resolve any differences from the data extraction process. Results Twenty studies were included. The majority of the studies assessed “low achievement” whist only two studies used the IQ-achievement discrepancy definition of “underachievement”. Fourteen studies (70%) reported that CWE had significantly lower academic achievement scores compared to healthy controls, children with asthma or reported norms. The remaining six studies (30%) did not report any differences. CWE had stable academic achievement scores over time (2–4 years), even among those whose seizure frequency improved. Higher parental education and children with higher IQ, and had better attention or had a positive attitude towards epilepsy, were associated with higher academic achievement score. Older children were found to have lower academic achievement score. Conclusions In CWE of normal intelligence, the majority of published literature found that academic achievement was lower than controls or reported norms. The high percentages of low achievement in CWE, especially in the older age group, and the stability of scores even as seizure frequency improved, highlights the need for early screening of learning problems, and continued surveillance. © 2017 Elsevier B.V.}, nota = {dipetik oleh 8}, kata kunci = {Academic Achievement, Academic Success, Achievement, Sikap Terhadap Kesihatan, Autisme, Benign Childhood Epilepsy, Anak-anak, Children with Epilepsy, Analisis Kohort, komorbiditi, Kajian Lintas Bahagian, Bahasa Inggeris (Bahasa), Epilepsi, Manusia, Kemerosotan Intelektual, Intelligence, Intelligence Quotient, Gangguan Pembelajaran, Observational Study, Parenting Education, Jurnal Keutamaan, Psikologi, Recurrent Disease, Recurrent Epilepsy, Kaji semula, Sistem Pemarkahan, Kajian Sistematik, Underachievement}, pubstate = {diterbitkan}, tppubtype = {artikel} } Purpose To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) kecerdasan normal, and its associating factors. Methods A search was conducted on five databases for articles published in English from 1980 till March 2015. Included were studies who recruited children (aged 5–18 years), with a diagnosis or newly/recurrent epilepsy, an intelligent quotient (IQ) of ≥70 or attending regular school, with or without a control group, which measured academic achievement using a standardised objective measure, and published in English. Excluded were children with learning difficulties, kecacatan intelektual (IQ < 70) and other comorbidities such as attention deficits hyperactive disorder or autism. Two pairs of reviewers extracted the data, and met to resolve any differences from the data extraction process. Results Twenty studies were included. The majority of the studies assessed “low achievement” whist only two studies used the IQ-achievement discrepancy definition of “underachievement”. Fourteen studies (70%) reported that CWE had significantly lower academic achievement scores compared to healthy controls, children with asthma or reported norms. The remaining six studies (30%) did not report any differences. CWE had stable academic achievement scores over time (2–4 years), even among those whose seizure frequency improved. Higher parental education and children with higher IQ, and had better attention or had a positive attitude towards epilepsy, were associated with higher academic achievement score. Older children were found to have lower academic achievement score. Conclusions In CWE of normal intelligence, the majority of published literature found that academic achievement was lower than controls or reported norms. The high percentages of low achievement in CWE, especially in the older age group, and the stability of scores even as seizure frequency improved, highlights the need for early screening of learning problems, and continued surveillance. © 2017 Elsevier B.V. |
2014 |
Shobana, M; Saravanan, C Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability Artikel Jurnal East Asian Archives of Psychiatry, 24 (1), hlm. 16-22, 2014, ISSN: 20789947, (dipetik oleh 6). Abstrak | Pautan | BibTeX | Tag: Dewasa, Keresahan, Artikel, Attitude, Autisme, Gangguan Spektrum Autisme, Anak-anak, Kajian Perbandingan, Kemurungan, Ketidakupayaan Perkembangan, Gangguan Perkembangan, Sindrom Down, Pendidikan, Perempuan, General Health Questionnaire 28, Home Care, Hostility, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Kajian Klinikal Utama, Malaysia, Lelaki, Gangguan Mental, Mother Child Relation, Mothers, Named Inventories, Sikap Ibu Bapa, Parental Attitude Scale, Kelaziman, Psychological Well Being, Soal selidik, Skala penilaian, Budak sekolah, Social Disability @artikel{Shobana201416, tajuk = {Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability}, pengarang = {M Shobana and C Saravanan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898619897&rakan kongsi = 40&md5=e877e03b868d1a11ed8f859a33057d5d}, terbitan = {20789947}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {East Asian Archives of Psychiatry}, isi padu = {24}, nombor = {1}, halaman = {16-22}, penerbit = {Hong Kong Academy of Medicine Press}, abstrak = {Objektif: Parents' positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers' attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. Kaedah: Dalam kajian ini, 112 mothers of children having mild and moderate levels of autism disorder, Sindrom Down, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Keputusan: Secara keseluruhan, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, kegelisahan, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Kesimpulannya: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability. © 2014 Hong Kong College of Psychiatrists.}, nota = {dipetik oleh 6}, kata kunci = {Dewasa, Keresahan, Artikel, Attitude, Autisme, Gangguan Spektrum Autisme, Anak-anak, Kajian Perbandingan, Kemurungan, Ketidakupayaan Perkembangan, Gangguan Perkembangan, Sindrom Down, Pendidikan, Perempuan, General Health Questionnaire 28, Home Care, Hostility, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Kajian Klinikal Utama, Malaysia, Lelaki, Gangguan Mental, Mother Child Relation, Mothers, Named Inventories, Sikap Ibu Bapa, Parental Attitude Scale, Kelaziman, Psychological Well Being, Soal selidik, Skala penilaian, Budak sekolah, Social Disability}, pubstate = {diterbitkan}, tppubtype = {artikel} } Objektif: Parents' positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers' attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. Kaedah: Dalam kajian ini, 112 mothers of children having mild and moderate levels of autism disorder, Sindrom Down, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Keputusan: Secara keseluruhan, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, kegelisahan, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Kesimpulannya: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability. © 2014 Hong Kong College of Psychiatrists. |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Artikel Jurnal Molecular Syndromology, 5 (6), hlm. 299-303, 2014, ISSN: 16618769, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @artikel{Chen2014299, tajuk = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, pengarang = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&rakan kongsi = 40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, terbitan = {16618769}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {Molecular Syndromology}, isi padu = {5}, nombor = {6}, halaman = {299-303}, penerbit = {S. Karger AG}, abstrak = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, nota = {dipetik oleh 4}, kata kunci = {Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
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. |
2012 |
Clark, M; Coklat, R; Karrapaya, R Pandangan awal mengenai kualiti hidup keluarga Malaysia yang merangkumi kanak-kanak kurang upaya Artikel Jurnal Jurnal Penyelidikan Kecacatan Intelektual, 56 (1), hlm. 45-60, 2012, ISSN: 09642633, (dipetik oleh 16). Abstrak | Pautan | BibTeX | Tag: Remaja, Dewasa, Artikel, Autisme, Pengasuh, Cerebral Palsy, Anak-anak, Kos Penyakit, Perbandingan Merentas Budaya, Ketidakupayaan Perkembangan, Gangguan Perkembangan, Kanak-kanak Kurang Upaya, Sindrom Down, Keluarga, Kesihatan Keluarga, Perempuan, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Tinjauan Kesihatan, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Kepuasan Hidup, Malaysia, Lelaki, Ibu bapa, Dasar, Prasekolah, Kanak-kanak Prasekolah, Psikometrik, Kualiti hidup, Soal selidik, Budak sekolah, Sokongan Sosial, Faktor Sosioekonomi @artikel{Clark201245, tajuk = {Pandangan awal mengenai kualiti hidup keluarga Malaysia yang merangkumi kanak-kanak kurang upaya}, pengarang = {M Clark dan R Brown dan R Karrapaya}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-83855165819&doi=10.1111/j.1365-2788.2011.01408.x&rakan kongsi = 40&md5 = 4822406179501d1b0b93c5374e383637}, doi = {10.1111/j.1365-2788.2011.01408.x}, terbitan = {09642633}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Jurnal Penyelidikan Kecacatan Intelektual}, isi padu = {56}, nombor = {1}, halaman = {45-60}, abstrak = {Latar Belakang Walaupun terdapat banyak literatur dalam kualiti hidup keluarga yang merangkumi anak-anak kurang upaya, majoriti penyelidikan telah dilakukan di negara-negara barat. Kajian ini memberikan penerokaan awal mengenai kualiti hidup keluarga Malaysia yang merangkumi anak-anak yang kurang upaya perkembangan / intelektual. Dinamika yang mencirikan masyarakat Malaysia digambarkan sebagai perkembangan dalam dasar sosial dan penyediaan perkhidmatan yang menyokong orang kurang upaya dan keluarga mereka. Data Kaedah Soal Selidik dikumpulkan menggunakan Tinjauan Kualiti Hidup Keluarga - Versi pendek. Anggota 52 keluarga yang merangkumi satu atau dua kanak-kanak kurang upaya ditemu ramah. Respons mereka memberikan persepsi mereka dalam enam dimensi kualiti hidup keluarga di sembilan domain kehidupan yang dinilai. Hasil Dapatan menunjukkan corak penilaian 'penting' yang dirasakan kuat pada setiap domain kehidupan berbanding dengan penilaian min untuk dimensi kualiti hidup keluarga yang lain. Beberapa dimensi kualiti hidup keluarga, khususnya 'peluang', ínitiative 'dan áttainment', menunjukkan hubungan yang sangat kuat antara satu sama lain. Keseluruhan cara kepuasan dengan dan pencapaian kualiti hidup keluarga serta penilaian global terhadap kualiti hidup dan kepuasan semua menunjukkan hubungan yang signifikan, walaupun setiap korelasi ini menyumbang kurang daripada 50% dari varians biasa. Kesimpulan Peringkat kepentingan dapat dilihat sebagai faktor penentu dari segi kualiti hidup, dan memainkan peranan penting dalam menyokong pencapaian, dan kepuasan dengan, kualiti hidup keluarga, menanggung peluang, inisiatif dan kestabilan mencukupi. Keperluan untuk sampel yang lebih luas termasuk keluarga yang tidak menerima perkhidmatan diperhatikan. Soalan penyelidikan masa depan berdasarkan hasil kajian semasa dan beberapa dinamika yang mempengaruhi masyarakat Malaysia juga dicadangkan. © 2011 Penulis. Jurnal Penyelidikan Kecacatan Intelektual © 2011 Blackwell Publishing Ltd.}, nota = {dipetik oleh 16}, kata kunci = {Remaja, Dewasa, Artikel, Autisme, Pengasuh, Cerebral Palsy, Anak-anak, Kos Penyakit, Perbandingan Merentas Budaya, Ketidakupayaan Perkembangan, Gangguan Perkembangan, Kanak-kanak Kurang Upaya, Sindrom Down, Keluarga, Kesihatan Keluarga, Perempuan, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Tinjauan Kesihatan, Manusia, Kecacatan Intelektual, Kemerosotan Intelektual, Kepuasan Hidup, Malaysia, Lelaki, Ibu bapa, Dasar, Prasekolah, Kanak-kanak Prasekolah, Psikometrik, Kualiti hidup, Soal selidik, Budak sekolah, Sokongan Sosial, Faktor Sosioekonomi}, pubstate = {diterbitkan}, tppubtype = {artikel} } Latar Belakang Walaupun terdapat banyak literatur dalam kualiti hidup keluarga yang merangkumi anak-anak kurang upaya, majoriti penyelidikan telah dilakukan di negara-negara barat. Kajian ini memberikan penerokaan awal mengenai kualiti hidup keluarga Malaysia yang merangkumi anak-anak yang kurang upaya perkembangan / intelektual. Dinamika yang mencirikan masyarakat Malaysia digambarkan sebagai perkembangan dalam dasar sosial dan penyediaan perkhidmatan yang menyokong orang kurang upaya dan keluarga mereka. Data Kaedah Soal Selidik dikumpulkan menggunakan Tinjauan Kualiti Hidup Keluarga - Versi pendek. Anggota 52 keluarga yang merangkumi satu atau dua kanak-kanak kurang upaya ditemu ramah. Respons mereka memberikan persepsi mereka dalam enam dimensi kualiti hidup keluarga di sembilan domain kehidupan yang dinilai. Hasil Dapatan menunjukkan corak penilaian 'penting' yang dirasakan kuat pada setiap domain kehidupan berbanding dengan penilaian min untuk dimensi kualiti hidup keluarga yang lain. Beberapa dimensi kualiti hidup keluarga, khususnya 'peluang', ínitiative 'dan áttainment', menunjukkan hubungan yang sangat kuat antara satu sama lain. Keseluruhan cara kepuasan dengan dan pencapaian kualiti hidup keluarga serta penilaian global terhadap kualiti hidup dan kepuasan semua menunjukkan hubungan yang signifikan, walaupun setiap korelasi ini menyumbang kurang daripada 50% dari varians biasa. Kesimpulan Peringkat kepentingan dapat dilihat sebagai faktor penentu dari segi kualiti hidup, dan memainkan peranan penting dalam menyokong pencapaian, dan kepuasan dengan, kualiti hidup keluarga, menanggung peluang, inisiatif dan kestabilan mencukupi. Keperluan untuk sampel yang lebih luas termasuk keluarga yang tidak menerima perkhidmatan diperhatikan. Soalan penyelidikan masa depan berdasarkan hasil kajian semasa dan beberapa dinamika yang mempengaruhi masyarakat Malaysia juga dicadangkan. © 2011 Penulis. Jurnal Penyelidikan Kecacatan Intelektual © 2011 Blackwell Publishing Ltd. |
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. |
2008 |
Amar, H S S Meeting the needs of children with disability in Malaysia Artikel Jurnal Medical Journal of Malaysia, 63 (1), hlm. 1-3, 2008, ISSN: 03005283, (dipetik oleh 20). Pautan | BibTeX | Tag: Autisme, Behaviour Modification, Pembangunan kanak-kanak, Child Health Care, Anak-anak, Clinical Assessment, Membuat Keputusan Klinikal, Gangguan Perkembangan, Developmental Screening, Kanak-kanak Kurang Upaya, Editorial, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Health Practitioner, Health Program, Tinjauan Kesihatan, Manusia, Kemerosotan Intelektual, Gangguan Pembelajaran, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Prasekolah, Public Health Service, Register, Kepekaan dan Kekhususan, Sensory Dysfunction, Penyesuaian Sosial, Social Welfare, Terapi ucapan, Support Group, United Kingdom, United States @artikel{Amar20081, tajuk = {Meeting the needs of children with disability in Malaysia}, pengarang = {H S S Amar}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49749107033&rakan kongsi = 40&md5=968c527b940374a37322a599d3ccc812}, terbitan = {03005283}, tahun = {2008}, tarikh = {2008-01-01}, jurnal = {Medical Journal of Malaysia}, isi padu = {63}, nombor = {1}, halaman = {1-3}, nota = {dipetik oleh 20}, kata kunci = {Autisme, Behaviour Modification, Pembangunan kanak-kanak, Child Health Care, Anak-anak, Clinical Assessment, Membuat Keputusan Klinikal, Gangguan Perkembangan, Developmental Screening, Kanak-kanak Kurang Upaya, Editorial, Penjagaan Kesihatan, Penyampaian Penjagaan Kesihatan, Health Practitioner, Health Program, Tinjauan Kesihatan, Manusia, Kemerosotan Intelektual, Gangguan Pembelajaran, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Prasekolah, Public Health Service, Register, Kepekaan dan Kekhususan, Sensory Dysfunction, Penyesuaian Sosial, Social Welfare, Terapi ucapan, Support Group, United Kingdom, United States}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
2018 |
Autisme dan trikotilomania dalam remaja lelaki Artikel Jurnal Laporan Kes BMJ, 2018 , 2018, ISSN: 1757790X, (dipetik oleh 0). |
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). |
2017 |
The burden of mental disorders in the eastern mediterranean region, 1990-2013 Artikel Jurnal PLoS SATU, 12 (1), 2017, ISSN: 19326203, (dipetik oleh 30). |
Epilepsy Research, 136 , hlm. 35-45, 2017, ISSN: 09201211, (dipetik oleh 8). |
2014 |
Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability Artikel Jurnal East Asian Archives of Psychiatry, 24 (1), hlm. 16-22, 2014, ISSN: 20789947, (dipetik oleh 6). |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Artikel Jurnal Molecular Syndromology, 5 (6), hlm. 299-303, 2014, ISSN: 16618769, (dipetik oleh 4). |
PLoS SATU, 9 (4), 2014, ISSN: 19326203, (dipetik oleh 20). |
2012 |
Pandangan awal mengenai kualiti hidup keluarga Malaysia yang merangkumi kanak-kanak kurang upaya Artikel Jurnal Jurnal Penyelidikan Kecacatan Intelektual, 56 (1), hlm. 45-60, 2012, ISSN: 09642633, (dipetik oleh 16). |
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). |
2008 |
Meeting the needs of children with disability in Malaysia Artikel Jurnal Medical Journal of Malaysia, 63 (1), hlm. 1-3, 2008, ISSN: 03005283, (dipetik oleh 20). |