2018 |
Masiran, R Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). Abstract | Links | BibTeX | Tags: Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index @article{Masiran2018b, title = {Autism and trichotillomania in an adolescent boy}, author = {R Masiran}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053164449&doi=10.1136%2fbcr-2018-226270&partnerID=40&md5=7eed3f6af717df527dce73838feab571}, doi = {10.1136/bcr-2018-226270}, issn = {1757790X}, year = {2018}, date = {2018-01-01}, journal = {BMJ Case Reports}, volume = {2018}, publisher = {BMJ Publishing Group}, abstract = {An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © BMJ Publishing Group Limited 2018.}, note = {cited By 0}, keywords = {Adolescent, Alopecia, Anxiety, Article, Attention Deficit Disorder, Attention Deficit Hyperactivity Disorder, Autism, Autism Spectrum Disorders, Behaviour Disorder, Body Mass, Case Report, Central Nervous System Stimulants, Child Behaviour Checklist, Clinical Article, Comorbidity, Complication, Diagnosis, Differential, Differential Diagnosis, Drug Dose Titration, Drug Tolerance, DSM-5, Echolalia, Fluvoxamine, Follow Up, Human, Hyperactivity, Intellectual Impairment, Male, Methylphenidate, Obesity, Occupational Therapy, Perceptual Reasoning Index, Priority Journal, Processing Speed Index, Psychiatric Status Rating Scales, Psychological Rating Scale, Rating Scale, Restlessness, Reward, Serotonin Uptake Inhibitor, Serotonin Uptake Inhibitors, Special Education, Speech Delay, Speech Disorder, Speech Therapy, Trichotillomania, Verbal Comprehension Index, Wechsler Intelligence Scale, Working Memory Index}, pubstate = {published}, tppubtype = {article} } An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions. © © 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 Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). Abstract | Links | BibTeX | Tags: Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, 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, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, 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 @article{Tsuchida2018538, title = {GRIN2D variants in three cases of developmental and epileptic encephalopathy}, author = {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&partnerID=40&md5=f0d32670db57261820bc244943cffd62}, doi = {10.1111/cge.13454}, issn = {00099163}, year = {2018}, date = {2018-01-01}, journal = {Clinical Genetics}, volume = {94}, number = {6}, pages = {538-547}, publisher = {Blackwell Publishing Ltd}, abstract = {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. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, 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}, note = {cited By 4}, keywords = {Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, 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, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, 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 = {published}, tppubtype = {article} } 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. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, 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; Vos, T; Daoud, F; Wang, H; Bcheraoui, C E; Khalil, I; 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; Ali, R; Roshandel, G; Terkawi, A S; Hamidi, S; Refaat, A H; Westerman, R; Kiadaliri, A A; Akanda, A S; Ali, S D; Bacha, U; Badawi, A; Bazargan-Hejazi, S; Faghmous, I A D; Fereshtehnejad, S -M; Fischer, F; Jonas, J B; Defo, B K; Mehari, A; Omer, S B; Pourmalek, F; Uthman, O 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, A K; Mitchell, P B; Patton, G; Sagar, R; Satpathy, M; Savuon, K; Seedat, S; Shiue, I; Skogen, 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 Journal Article PLoS ONE, 12 (1), 2017, ISSN: 19326203, (cited By 30). Abstract | Links | BibTeX | Tags: 80 and Over, Adolescent, Adult, Age, Age Factors, Aged, Anxiety Disorder, Article, Attention Deficit Disorder, Autism, Bipolar Disorder, Children, Conduct Disorder, Depression, Elderly People, Female, Global Health, Groups by Age, Health Status, Highest Income Group, Human, Infant, Intellectual Impairment, Kuwait, Life Expectancy, Major Clinical Study, Male, Mediterranean Region, Mental Disease, Mental Disorders, Mental Health, Mental Health Service, Middle Aged, Middle Income Group, Mortality, Newborn, Palestine, Premature Mortality, Preschool, Preschool Child, Prevalence, Qatar, Quality Adjusted Life Year, Schizophrenia, Sex Difference, Sex Factors, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Young Adult @article{Charara2017, title = {The burden of mental disorders in the eastern mediterranean region, 1990-2013}, author = {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%2fjournal.pone.0169575&partnerID=40&md5=471830ec1239e37c6fc4681bed5698f6}, doi = {10.1371/journal.pone.0169575}, issn = {19326203}, year = {2017}, date = {2017-01-01}, journal = {PLoS ONE}, volume = {12}, number = {1}, publisher = {Public Library of Science}, abstract = {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. In 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 males, 2426/100,000 females) in high-income countries, 1884 DALYS/100,000 (1618/100,000 males, 2157/100,000 females) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 males, 1717/100,000 females) 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 to 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. Moreover, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Indeed, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.}, note = {cited By 30}, keywords = {80 and Over, Adolescent, Adult, Age, Age Factors, Aged, Anxiety Disorder, Article, Attention Deficit Disorder, Autism, Bipolar Disorder, Children, Conduct Disorder, Depression, Elderly People, Female, Global Health, Groups by Age, Health Status, Highest Income Group, Human, Infant, Intellectual Impairment, Kuwait, Life Expectancy, Major Clinical Study, Male, Mediterranean Region, Mental Disease, Mental Disorders, Mental Health, Mental Health Service, Middle Aged, Middle Income Group, Mortality, Newborn, Palestine, Premature Mortality, Preschool, Preschool Child, Prevalence, Qatar, Quality Adjusted Life Year, Schizophrenia, Sex Difference, Sex Factors, Southern Europe, Time Factor, Time Factors, United Arab Emirates, Young Adult}, pubstate = {published}, tppubtype = {article} } 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. In 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 males, 2426/100,000 females) in high-income countries, 1884 DALYS/100,000 (1618/100,000 males, 2157/100,000 females) in middle-income countries, 1607 DALYS/100,000 (1500/100,000 males, 1717/100,000 females) 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 to 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. Moreover, our results showing the accelerating burden of mental health are alarming as the region is seeing an increased level of instability. Indeed, mental health problems, if not properly addressed, will lead to an increased burden of diseases in the region. © 2017 Charara et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
Wo, S W; Ong, L C; Low, W Y; Lai, P S M The impact of epilepsy on academic achievement in children with normal intelligence and without major comorbidities: A systematic review Journal Article Epilepsy Research, 136 , pp. 35-45, 2017, ISSN: 09201211, (cited By 8). Abstract | Links | BibTeX | Tags: Academic Achievement, Academic Success, Achievement, Attitude to Health, Autism, Benign Childhood Epilepsy, Children, Children with Epilepsy, Cohort Analysis, Comorbidity, Cross-Sectional Study, English (Language), Epilepsy, Human, Intellectual Impairment, Intelligence, Intelligence Quotient, Learning Disorder, Observational Study, Parenting Education, Priority Journal, Psychology, Recurrent Disease, Recurrent Epilepsy, Review, Scoring System, Systematic Review, Underachievement @article{Wo201735, title = {The impact of epilepsy on academic achievement in children with normal intelligence and without major comorbidities: A systematic review}, author = {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&partnerID=40&md5=f34a0aada2cc5dc6e4d6beab18ac779c}, doi = {10.1016/j.eplepsyres.2017.07.009}, issn = {09201211}, year = {2017}, date = {2017-01-01}, journal = {Epilepsy Research}, volume = {136}, pages = {35-45}, publisher = {Elsevier B.V.}, abstract = {Purpose To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) of normal intelligence, 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, intellectual disabilities (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.}, note = {cited By 8}, keywords = {Academic Achievement, Academic Success, Achievement, Attitude to Health, Autism, Benign Childhood Epilepsy, Children, Children with Epilepsy, Cohort Analysis, Comorbidity, Cross-Sectional Study, English (Language), Epilepsy, Human, Intellectual Impairment, Intelligence, Intelligence Quotient, Learning Disorder, Observational Study, Parenting Education, Priority Journal, Psychology, Recurrent Disease, Recurrent Epilepsy, Review, Scoring System, Systematic Review, Underachievement}, pubstate = {published}, tppubtype = {article} } Purpose To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) of normal intelligence, 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, intellectual disabilities (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 Journal Article East Asian Archives of Psychiatry, 24 (1), pp. 16-22, 2014, ISSN: 20789947, (cited By 6). Abstract | Links | BibTeX | Tags: Adult, Anxiety, Article, Attitude, Autism, Autism Spectrum Disorders, Children, Comparative Study, Depression, Developmental Disabilities, Developmental Disorders, Down Syndrome, Education, Female, General Health Questionnaire 28, Home Care, Hostility, Human, Intellectual Disability, Intellectual Impairment, Major Clinical Study, Malaysia, Male, Mental Disorders, Mother Child Relation, Mothers, Named Inventories, Parental Attitude, Parental Attitude Scale, Prevalence, Psychological Well Being, Questionnaires, Rating Scale, School Child, Social Disability @article{Shobana201416, title = {Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability}, author = {M Shobana and C Saravanan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84898619897&partnerID=40&md5=e877e03b868d1a11ed8f859a33057d5d}, issn = {20789947}, year = {2014}, date = {2014-01-01}, journal = {East Asian Archives of Psychiatry}, volume = {24}, number = {1}, pages = {16-22}, publisher = {Hong Kong Academy of Medicine Press}, abstract = {Objective: 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. Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Results: Overall, 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, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Conclusion: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability. © 2014 Hong Kong College of Psychiatrists.}, note = {cited By 6}, keywords = {Adult, Anxiety, Article, Attitude, Autism, Autism Spectrum Disorders, Children, Comparative Study, Depression, Developmental Disabilities, Developmental Disorders, Down Syndrome, Education, Female, General Health Questionnaire 28, Home Care, Hostility, Human, Intellectual Disability, Intellectual Impairment, Major Clinical Study, Malaysia, Male, Mental Disorders, Mother Child Relation, Mothers, Named Inventories, Parental Attitude, Parental Attitude Scale, Prevalence, Psychological Well Being, Questionnaires, Rating Scale, School Child, Social Disability}, pubstate = {published}, tppubtype = {article} } Objective: 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. Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Results: Overall, 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, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Conclusion: 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 Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). Abstract | Links | BibTeX | Tags: Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @article{Chen2014299, title = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, author = {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&partnerID=40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, issn = {16618769}, year = {2014}, date = {2014-01-01}, journal = {Molecular Syndromology}, volume = {5}, number = {6}, pages = {299-303}, publisher = {S. Karger AG}, abstract = {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, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, 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 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, note = {cited By 4}, keywords = {Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {published}, tppubtype = {article} } 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, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, 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 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). 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; Zang, Z J; Lai, A; Tan, E -S; Ng, I; Ong, L -C; Cham, B; Tan, P; Rozen, S; Tan, E -C PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). Abstract | Links | BibTeX | Tags: Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism @article{Brett2014, title = {Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel}, author = {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%2fjournal.pone.0093409&partnerID=40&md5=f673e204a009bf84de81ea69dcd026db}, doi = {10.1371/journal.pone.0093409}, issn = {19326203}, year = {2014}, date = {2014-01-01}, journal = {PLoS ONE}, volume = {9}, number = {4}, publisher = {Public Library of Science}, abstract = {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. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al.}, note = {cited By 20}, keywords = {Article, ATRX Gene, Autism, Autism Spectrum Disorders, Children, Clinical Article, Congenital Abnormalities, Congenital Malformation, Controlled Study, Diagnostic Test, DNA Mutational Analysis, Female, Gene, Gene Expression Profiling, Gene Mutation, Gene Targeting, Genetic Association, Genetic Association Studies, Genetic Disorder, Genetic Variability, Genetic Variation, Genetics, Genome-Wide Association Study, High Throughput Sequencing, High-Throughput Nucleotide Sequencing, Human, Intellectual Disability, Intellectual Impairment, Karyotype, L1CAM Gene, Male, Mutation, Nonsense Mutation, Nucleotide Sequence, Phenotype, Polymorphism, RNA Splice Sites, RNA Splicing, Single Nucleotide, Single Nucleotide Polymorphism}, pubstate = {published}, tppubtype = {article} } 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. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism. © 2014 Brett et al. |
2012 |
Clark, M; Brown, R; Karrapaya, R An initial look at the quality of life of Malaysian families that include children with disabilities Journal Article Journal of Intellectual Disability Research, 56 (1), pp. 45-60, 2012, ISSN: 09642633, (cited By 16). Abstract | Links | BibTeX | Tags: Adolescent, Adult, Article, Autism, Caregiver, Cerebral Palsy, Children, Cost of Illness, Cross-Cultural Comparison, Developmental Disabilities, Developmental Disorders, Disabled Children, Down Syndrome, Family, Family Health, Female, Health Care, Health Care Delivery, Health Survey, Human, Intellectual Disability, Intellectual Impairment, Life Satisfaction, Malaysia, Male, Parents, Policy, Preschool, Preschool Child, Psychometrics, Quality of Life, Questionnaires, School Child, Social Support, Socioeconomic Factors @article{Clark201245, title = {An initial look at the quality of life of Malaysian families that include children with disabilities}, author = {M Clark and R Brown and R Karrapaya}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-83855165819&doi=10.1111%2fj.1365-2788.2011.01408.x&partnerID=40&md5=4822406179501d1b0b93c5374e383637}, doi = {10.1111/j.1365-2788.2011.01408.x}, issn = {09642633}, year = {2012}, date = {2012-01-01}, journal = {Journal of Intellectual Disability Research}, volume = {56}, number = {1}, pages = {45-60}, abstract = {Background While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families. Method Questionnaire data were collected using the Family Quality of Life Survey - Short Version. Members of 52 families that included one or two children with disabilities were interviewed. Their responses provided their perceptions within six dimensions of family quality of life across the nine life domains assessed. Results Findings showed a consistent pattern of relatively strong perceived ímportance' ratings in each of life domains as compared to mean ratings for other family quality of life dimensions. Some dimensions of family quality of life, in particular ópportunities', ínitiative' and áttainment', demonstrated particularly strong associations with each other. Overall means of satisfaction with and attainment of family quality of life as well as global evaluations of quality of life and satisfaction all demonstrated significant associations, although each of these correlations accounted for less than 50% of the common variance. Conclusions The importance rating can be viewed as a determining factor in terms of quality of life, and it played a critical role in supporting attainment of, and satisfaction with, family quality of life, assuming opportunities, initiative and stability are adequate. The need for a broader sample including families that were not receiving services was noted. Future research questions based on the results of the current study and some of the dynamics impacting Malaysian society are also suggested. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.}, note = {cited By 16}, keywords = {Adolescent, Adult, Article, Autism, Caregiver, Cerebral Palsy, Children, Cost of Illness, Cross-Cultural Comparison, Developmental Disabilities, Developmental Disorders, Disabled Children, Down Syndrome, Family, Family Health, Female, Health Care, Health Care Delivery, Health Survey, Human, Intellectual Disability, Intellectual Impairment, Life Satisfaction, Malaysia, Male, Parents, Policy, Preschool, Preschool Child, Psychometrics, Quality of Life, Questionnaires, School Child, Social Support, Socioeconomic Factors}, pubstate = {published}, tppubtype = {article} } Background While there is a growing body of literature in the quality of life of families that include children with disabilities, the majority of research has been conducted in western countries. The present study provides an initial exploration of the quality of life of Malaysian families that include children with developmental/intellectual disabilities. Dynamics characterising Malaysian society are described as developments in social policy and service delivery that support persons with disabilities and their families. Method Questionnaire data were collected using the Family Quality of Life Survey - Short Version. Members of 52 families that included one or two children with disabilities were interviewed. Their responses provided their perceptions within six dimensions of family quality of life across the nine life domains assessed. Results Findings showed a consistent pattern of relatively strong perceived ímportance' ratings in each of life domains as compared to mean ratings for other family quality of life dimensions. Some dimensions of family quality of life, in particular ópportunities', ínitiative' and áttainment', demonstrated particularly strong associations with each other. Overall means of satisfaction with and attainment of family quality of life as well as global evaluations of quality of life and satisfaction all demonstrated significant associations, although each of these correlations accounted for less than 50% of the common variance. Conclusions The importance rating can be viewed as a determining factor in terms of quality of life, and it played a critical role in supporting attainment of, and satisfaction with, family quality of life, assuming opportunities, initiative and stability are adequate. The need for a broader sample including families that were not receiving services was noted. Future research questions based on the results of the current study and some of the dynamics impacting Malaysian society are also suggested. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd. |
Salih, M R M; Bahari, M B; Hassali, M A A; Shafie, A A; Al-Lela, O Q B; Abd, A Y; Ganesan, V M Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Journal Article Journal of Neurosciences in Rural Practice, 3 (3), pp. 244-250, 2012, ISSN: 09763147, (cited By 1). Abstract | Links | BibTeX | Tags: Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease @article{Salih2012244, title = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy}, author = {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&partnerID=40&md5=039bd22d6c38366ebfdd00a4254c20f0}, doi = {10.4103/0976-3147.102596}, issn = {09763147}, year = {2012}, date = {2012-01-01}, journal = {Journal of Neurosciences in Rural Practice}, volume = {3}, number = {3}, pages = {244-250}, abstract = {Introduction: 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 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, 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.}, note = {cited By 1}, keywords = {Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease}, pubstate = {published}, tppubtype = {article} } Introduction: 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 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, 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. |
2008 |
Amar, H S S Meeting the needs of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 1-3, 2008, ISSN: 03005283, (cited By 20). Links | BibTeX | Tags: Autism, Behaviour Modification, Child Development, Child Health Care, Children, Clinical Assessment, Clinical Decision Making, Developmental Disorders, Developmental Screening, Disabled Children, Editorial, Health Care, Health Care Delivery, Health Practitioner, Health Program, Health Survey, Human, Intellectual Impairment, Learning Disorder, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Preschool, Public Health Service, Register, Sensitivity and Specificity, Sensory Dysfunction, Social Adaptation, Social Welfare, Speech Therapy, Support Group, United Kingdom, United States @article{Amar20081, title = {Meeting the needs of children with disability in Malaysia}, author = {H S S Amar}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-49749107033&partnerID=40&md5=968c527b940374a37322a599d3ccc812}, issn = {03005283}, year = {2008}, date = {2008-01-01}, journal = {Medical Journal of Malaysia}, volume = {63}, number = {1}, pages = {1-3}, note = {cited By 20}, keywords = {Autism, Behaviour Modification, Child Development, Child Health Care, Children, Clinical Assessment, Clinical Decision Making, Developmental Disorders, Developmental Screening, Disabled Children, Editorial, Health Care, Health Care Delivery, Health Practitioner, Health Program, Health Survey, Human, Intellectual Impairment, Learning Disorder, Malaysia, Pediatric Physiotherapy, Pediatric Rehabilitation, Physical Disability, Preschool, Public Health Service, Register, Sensitivity and Specificity, Sensory Dysfunction, Social Adaptation, Social Welfare, Speech Therapy, Support Group, United Kingdom, United States}, pubstate = {published}, tppubtype = {article} } |
2018 |
Autism and trichotillomania in an adolescent boy Journal Article BMJ Case Reports, 2018 , 2018, ISSN: 1757790X, (cited By 0). |
GRIN2D variants in three cases of developmental and epileptic encephalopathy Journal Article Clinical Genetics, 94 (6), pp. 538-547, 2018, ISSN: 00099163, (cited By 4). |
2017 |
The burden of mental disorders in the eastern mediterranean region, 1990-2013 Journal Article PLoS ONE, 12 (1), 2017, ISSN: 19326203, (cited By 30). |
The impact of epilepsy on academic achievement in children with normal intelligence and without major comorbidities: A systematic review Journal Article Epilepsy Research, 136 , pp. 35-45, 2017, ISSN: 09201211, (cited By 8). |
2014 |
Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability Journal Article East Asian Archives of Psychiatry, 24 (1), pp. 16-22, 2014, ISSN: 20789947, (cited By 6). |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). |
PLoS ONE, 9 (4), 2014, ISSN: 19326203, (cited By 20). |
2012 |
An initial look at the quality of life of Malaysian families that include children with disabilities Journal Article Journal of Intellectual Disability Research, 56 (1), pp. 45-60, 2012, ISSN: 09642633, (cited By 16). |
Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Journal Article Journal of Neurosciences in Rural Practice, 3 (3), pp. 244-250, 2012, ISSN: 09763147, (cited By 1). |
2008 |
Meeting the needs of children with disability in Malaysia Journal Article Medical Journal of Malaysia, 63 (1), pp. 1-3, 2008, ISSN: 03005283, (cited By 20). |