@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}
}

@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}
}

@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}
}

@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}
}

@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}
}