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Résultat de la recherche
28 recherche sur le mot-clé 'Neurodevelopmental disorder'




Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD / A. GANDHI in Journal of Autism and Developmental Disorders, 51-6 (June 2021)
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Titre : Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD Type de document : Texte imprimé et/ou numérique Auteurs : A. GANDHI, Auteur ; D. ZHOU, Auteur ; J. ALAIMO, Auteur ; E. CHON, Auteur ; M. D. FOUNTAIN, Auteur ; S. H. ELSEA, Auteur Article en page(s) : p.1852-1865 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics/physiopathology Child Child, Preschool DNA-Binding Proteins Facies Female Humans Hyperventilation/genetics/physiopathology Intellectual Disability/genetics/physiopathology Male Neurodevelopmental Disorders/genetics/physiopathology Sleep/genetics Sleep Wake Disorders/genetics/psychology Smith-Magenis Syndrome/genetics/physiopathology Autism spectrum disorder MBD5-associated neurodevelopmental disorder Neurodevelopmental disorder Pitt–Hopkins syndrome Sleep disturbance Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865[article] Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD [Texte imprimé et/ou numérique] / A. GANDHI, Auteur ; D. ZHOU, Auteur ; J. ALAIMO, Auteur ; E. CHON, Auteur ; M. D. FOUNTAIN, Auteur ; S. H. ELSEA, Auteur . - p.1852-1865.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1852-1865
Mots-clés : Autism Spectrum Disorder/genetics/physiopathology Child Child, Preschool DNA-Binding Proteins Facies Female Humans Hyperventilation/genetics/physiopathology Intellectual Disability/genetics/physiopathology Male Neurodevelopmental Disorders/genetics/physiopathology Sleep/genetics Sleep Wake Disorders/genetics/psychology Smith-Magenis Syndrome/genetics/physiopathology Autism spectrum disorder MBD5-associated neurodevelopmental disorder Neurodevelopmental disorder Pitt–Hopkins syndrome Sleep disturbance Smith–Magenis syndrome Index. décimale : PER Périodiques Résumé : Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals. En ligne : http://dx.doi.org/10.1007/s10803-020-04666-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder / Nadja T. HOFER in Molecular Autism, 11 (2020)
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Titre : Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nadja T. HOFER, Auteur ; Petronel TULUC, Auteur ; Nadine J. ORTNER, Auteur ; Yuliia V. NIKONISHYNA, Auteur ; Monica L. FERNÁNDES-QUINTERO, Auteur ; Klaus R. LIEDL, Auteur ; Bernhard E. FLUCHER, Auteur ; Helen COX, Auteur ; Jörg STRIESSNIG, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder cacna1d Gain-of-function mutation L-type Ca2+-channels Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3?L-type Ca(2+)-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals. We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. METHODS: For functional characterization, wild-type and mutant Cav1.3 channel complexes were expressed in tsA-201 cells and tested for typical gain-of-function gating changes using the whole-cell patch-clamp technique. RESULTS: Mutation S652L significantly shifted the voltage-dependence of activation and steady-state inactivation to more negative potentials (~ 13-17?mV) and increased window currents at subthreshold voltages. Moreover, it slowed tail currents and increased Ca(2+)-levels during action potential-like stimulations, characteristic for gain-of-function changes. To provide evidence that only gain-of-function variants confer high disease risk, we also studied missense variant S652W reported in apparently healthy individuals. S652W shifted activation and inactivation to more positive voltages, compatible with a loss-of-function phenotype. Mutation S652L increased the sensitivity of Cav1.3 for inhibition by the dihydropyridine L-type Ca(2+)-channel blocker isradipine by 3-4-fold.Conclusions and limitationsOur data provide evidence that gain-of-function CACNA1D mutations, such as S652L, but not loss-of-function mutations, such as S652W, cause high risk for neurodevelopmental disorders including autism. This adds CACNA1D to the list of novel disease genes identified in the Deciphering Developmental Disorder Study. Although our study does not provide insight into the cellular mechanisms of pathological Cav1.3 signaling in neurons, we provide a unifying mechanism of gain-of-function CACNA1D mutations as a predictor for disease risk, which may allow the establishment of a more reliable diagnosis of affected individuals. Moreover, the increased sensitivity of S652L to isradipine encourages a therapeutic trial in the two affected individuals. This can address the important question to which extent symptoms are responsive to therapy with Ca(2+)-channel blockers. En ligne : http://dx.doi.org/10.1186/s13229-019-0310-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 4 p.[article] Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder [Texte imprimé et/ou numérique] / Nadja T. HOFER, Auteur ; Petronel TULUC, Auteur ; Nadine J. ORTNER, Auteur ; Yuliia V. NIKONISHYNA, Auteur ; Monica L. FERNÁNDES-QUINTERO, Auteur ; Klaus R. LIEDL, Auteur ; Bernhard E. FLUCHER, Auteur ; Helen COX, Auteur ; Jörg STRIESSNIG, Auteur . - 4 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 4 p.
Mots-clés : Autism spectrum disorder cacna1d Gain-of-function mutation L-type Ca2+-channels Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3?L-type Ca(2+)-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals. We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. METHODS: For functional characterization, wild-type and mutant Cav1.3 channel complexes were expressed in tsA-201 cells and tested for typical gain-of-function gating changes using the whole-cell patch-clamp technique. RESULTS: Mutation S652L significantly shifted the voltage-dependence of activation and steady-state inactivation to more negative potentials (~ 13-17?mV) and increased window currents at subthreshold voltages. Moreover, it slowed tail currents and increased Ca(2+)-levels during action potential-like stimulations, characteristic for gain-of-function changes. To provide evidence that only gain-of-function variants confer high disease risk, we also studied missense variant S652W reported in apparently healthy individuals. S652W shifted activation and inactivation to more positive voltages, compatible with a loss-of-function phenotype. Mutation S652L increased the sensitivity of Cav1.3 for inhibition by the dihydropyridine L-type Ca(2+)-channel blocker isradipine by 3-4-fold.Conclusions and limitationsOur data provide evidence that gain-of-function CACNA1D mutations, such as S652L, but not loss-of-function mutations, such as S652W, cause high risk for neurodevelopmental disorders including autism. This adds CACNA1D to the list of novel disease genes identified in the Deciphering Developmental Disorder Study. Although our study does not provide insight into the cellular mechanisms of pathological Cav1.3 signaling in neurons, we provide a unifying mechanism of gain-of-function CACNA1D mutations as a predictor for disease risk, which may allow the establishment of a more reliable diagnosis of affected individuals. Moreover, the increased sensitivity of S652L to isradipine encourages a therapeutic trial in the two affected individuals. This can address the important question to which extent symptoms are responsive to therapy with Ca(2+)-channel blockers. En ligne : http://dx.doi.org/10.1186/s13229-019-0310-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Protocadherin Mutations in Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Duyen PHAM, Auteur ; Chuan TAN, Auteur ; Claire HOMAN, Auteur ; Lachlan JOLLY, Auteur ; Jozef GECZ, Auteur Année de publication : 2016 Importance : p.221-231 Langues : Anglais (eng) Mots-clés : Adhesion molecule Mutation Neurodevelopmental disorder PCDH19 Protocadherin Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Neurodevelopmental disorders such as intellectual disability (ID), epilepsy, autism spectrum disorders (ASDs), schizophrenia (SZ), and bipolar disorder (BD) include cognitive, neurological, and/or psychiatric dysfunction and can be caused by impairment of the brain during development. These disorders are complex and highly heterogeneous and often coexist with other types of co-comorbidities. Mutations in genes encoding for cell adhesion molecules, specifically the delta-2-protocadherin (?2-PCDH) family have been shown to be associated with a number of these disorders. These genes have crucial roles in early brain development, including neuronal migration, synaptogenesis, and axonal growth. Currently, little is known about how mutations in the protocadherin gene family contribute to the underlying pathogenesis of neurodevelopmental disorders. This review will discusses different neurodevelopmental disorders and the role of their respective associated published ?2-PCDHs mutations, in particular PCDH19, including new insights into novel mutations potentially contributing to these diseases. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00014-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Protocadherin Mutations in Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / Duyen PHAM, Auteur ; Chuan TAN, Auteur ; Claire HOMAN, Auteur ; Lachlan JOLLY, Auteur ; Jozef GECZ, Auteur . - 2016 . - p.221-231.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Adhesion molecule Mutation Neurodevelopmental disorder PCDH19 Protocadherin Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Neurodevelopmental disorders such as intellectual disability (ID), epilepsy, autism spectrum disorders (ASDs), schizophrenia (SZ), and bipolar disorder (BD) include cognitive, neurological, and/or psychiatric dysfunction and can be caused by impairment of the brain during development. These disorders are complex and highly heterogeneous and often coexist with other types of co-comorbidities. Mutations in genes encoding for cell adhesion molecules, specifically the delta-2-protocadherin (?2-PCDH) family have been shown to be associated with a number of these disorders. These genes have crucial roles in early brain development, including neuronal migration, synaptogenesis, and axonal growth. Currently, little is known about how mutations in the protocadherin gene family contribute to the underlying pathogenesis of neurodevelopmental disorders. This review will discusses different neurodevelopmental disorders and the role of their respective associated published ?2-PCDHs mutations, in particular PCDH19, including new insights into novel mutations potentially contributing to these diseases. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00014-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life / Fen ZHANG in Autism Research, 15-12 (December 2022)
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Titre : Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life Type de document : Texte imprimé et/ou numérique Auteurs : Fen ZHANG, Auteur ; Floor MOERMAN, Auteur ; Haijing NIU, Auteur ; Petra WARREYN, Auteur ; Herbert ROEYERS, Auteur Article en page(s) : p.2223-2237 Langues : Anglais (eng) Mots-clés : Infant Humans Autism Spectrum Disorder Neurodevelopmental Disorders Brain/diagnostic imaging Phenotype autism spectrum disorder brain network functional connectivity functional near-infrared spectroscopy neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral features that appear early in life. Although studies have shown that atypical brain functional and structural connectivity are associated with these behavioral traits, the occurrence and initial alterations of brain networks have not been fully investigated. The current study aimed to map early brain network efficiency and information transferring in infants at elevated likelihood (EL) compared to infants at typical likelihood (TL) for ASD in the first year of life. This study used a resting-state functional near-infrared spectroscopy (fNIRS) approach to obtain the length and strength of functional connections in the frontal and temporal areas in 45 5-month-old and 38 10-month-old infants. Modular organization and small-world properties were detected in both EL and TL infants at 5 and 10Â months. In 5-month-old EL infants, local and nodal efficiency were significantly greater than age-matched TL infants, indicating overgrown local connections. Furthermore, we used a support vector machine (SVM) model to classify infants with or without EL based on the obtained global properties of the network, achieving an accuracy of 77.6%. These results suggest that infants with EL for ASD exhibit inefficiencies in the organization of brain networks during the first year of life. En ligne : http://dx.doi.org/10.1002/aur.2827 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488
in Autism Research > 15-12 (December 2022) . - p.2223-2237[article] Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life [Texte imprimé et/ou numérique] / Fen ZHANG, Auteur ; Floor MOERMAN, Auteur ; Haijing NIU, Auteur ; Petra WARREYN, Auteur ; Herbert ROEYERS, Auteur . - p.2223-2237.
Langues : Anglais (eng)
in Autism Research > 15-12 (December 2022) . - p.2223-2237
Mots-clés : Infant Humans Autism Spectrum Disorder Neurodevelopmental Disorders Brain/diagnostic imaging Phenotype autism spectrum disorder brain network functional connectivity functional near-infrared spectroscopy neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral features that appear early in life. Although studies have shown that atypical brain functional and structural connectivity are associated with these behavioral traits, the occurrence and initial alterations of brain networks have not been fully investigated. The current study aimed to map early brain network efficiency and information transferring in infants at elevated likelihood (EL) compared to infants at typical likelihood (TL) for ASD in the first year of life. This study used a resting-state functional near-infrared spectroscopy (fNIRS) approach to obtain the length and strength of functional connections in the frontal and temporal areas in 45 5-month-old and 38 10-month-old infants. Modular organization and small-world properties were detected in both EL and TL infants at 5 and 10Â months. In 5-month-old EL infants, local and nodal efficiency were significantly greater than age-matched TL infants, indicating overgrown local connections. Furthermore, we used a support vector machine (SVM) model to classify infants with or without EL based on the obtained global properties of the network, achieving an accuracy of 77.6%. These results suggest that infants with EL for ASD exhibit inefficiencies in the organization of brain networks during the first year of life. En ligne : http://dx.doi.org/10.1002/aur.2827 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan / Naomi KAWAOKA in Journal of Autism and Developmental Disorders, 52-5 (May 2022)
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Titre : Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan Type de document : Texte imprimé et/ou numérique Auteurs : Naomi KAWAOKA, Auteur ; Kei OHASHI, Auteur ; Satomi FUKUHARA, Auteur ; Taishi MIYACHI, Auteur ; Tomoko ASAI, Auteur ; Masayuki IMAEDA, Auteur ; Shinji SAITOH, Auteur Article en page(s) : p.2149-2155 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/psychology Autism Spectrum Disorder/epidemiology/psychology COVID-19/prevention & control Child Humans Japan/epidemiology Neurodevelopmental Disorders/diagnosis/epidemiology/psychology Attention-deficit hyperactivity disorder Autism spectrum disorder Covid-19 Intellectual disorder Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined the impact of school closures due to COVID-19 on school-aged children with NDDs using the Child Behavior Checklist. Totally, data on 121 children diagnosed with autism spectrum disorder, attention-deficit hyperactivity disorder, and/or intellectual disorder were analyzed and it was found that externalizing and aggressive behavior increased in all NDDs, regardless of the type of diagnosis. A clear prospect is important for children with NDDs children to lead a stable life, and more generous supports for children with NDDs and their families are needed. En ligne : http://dx.doi.org/10.1007/s10803-021-05119-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2149-2155[article] Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan [Texte imprimé et/ou numérique] / Naomi KAWAOKA, Auteur ; Kei OHASHI, Auteur ; Satomi FUKUHARA, Auteur ; Taishi MIYACHI, Auteur ; Tomoko ASAI, Auteur ; Masayuki IMAEDA, Auteur ; Shinji SAITOH, Auteur . - p.2149-2155.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2149-2155
Mots-clés : Attention Deficit Disorder with Hyperactivity/psychology Autism Spectrum Disorder/epidemiology/psychology COVID-19/prevention & control Child Humans Japan/epidemiology Neurodevelopmental Disorders/diagnosis/epidemiology/psychology Attention-deficit hyperactivity disorder Autism spectrum disorder Covid-19 Intellectual disorder Neurodevelopmental disorder Index. décimale : PER Périodiques Résumé : In March 2020, many schools were closed to prevent the spread of COVID-19 in Japan, and it is predicted that many children, especially those with neurodevelopmental disorders (NDDs), will be affected emotionally and behaviorally. Here, we examined the impact of school closures due to COVID-19 on school-aged children with NDDs using the Child Behavior Checklist. Totally, data on 121 children diagnosed with autism spectrum disorder, attention-deficit hyperactivity disorder, and/or intellectual disorder were analyzed and it was found that externalizing and aggressive behavior increased in all NDDs, regardless of the type of diagnosis. A clear prospect is important for children with NDDs children to lead a stable life, and more generous supports for children with NDDs and their families are needed. En ligne : http://dx.doi.org/10.1007/s10803-021-05119-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 Autism is a prenatal disorder: Evidence from late gestation brain overgrowth / Frédérique BONNET-BRILHAULT in Autism Research, 11-12 (December 2018)
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PermalinkCommon vs. Distinct Visuomotor Control Deficits in Autism Spectrum Disorder and Schizophrenia / Loïc CARMENT in Autism Research, 13-6 (June 2020)
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PermalinkDetection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) / Eloisa S. MOREIRA in Research in Autism Spectrum Disorders, 23 (March 2016)
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PermalinkLanguage and Pragmatics Across Neurodevelopmental Disorders: An Investigation Using the Italian Version of CCC-2 / Marika FERRARA in Journal of Autism and Developmental Disorders, 50-4 (April 2020)
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PermalinkAbility and Disability in Autism Spectrum Disorder: A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version / Elles DE SCHIPPER in Autism Research, 8-6 (December 2015)
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