Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients / Hannah BROADBENT in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.18 Titre : Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients Type de document : texte imprimé Auteurs : Hannah BROADBENT, Auteur ; Emily K. FARRAN, Auteur ; Esther CHIN, Auteur ; Kay METCALFE, Auteur ; May TASSABEHJI, Auteur ; Peter TURNPENNY, Auteur ; Francis SANSBURY, Auteur ; Emma MEABURN, Auteur ; Annette KARMILOFF-SMITH, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Gtf2i  Gtf2ird1  Limk1  Navigation  Visuospatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. METHODS: WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. RESULTS: Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. CONCLUSIONS: Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed. En ligne : http://dx.doi.org/10.1186/1866-1955-6-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients [texte imprimé] / Hannah BROADBENT, Auteur ; Emily K. FARRAN, Auteur ; Esther CHIN, Auteur ; Kay METCALFE, Auteur ; May TASSABEHJI, Auteur ; Peter TURNPENNY, Auteur ; Francis SANSBURY, Auteur ; Emma MEABURN, Auteur ; Annette KARMILOFF-SMITH, Auteur . - p.18. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.18 Mots-clés : Gtf2i  Gtf2ird1  Limk1  Navigation  Visuospatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. METHODS: WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. RESULTS: Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. CONCLUSIONS: Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed. En ligne : http://dx.doi.org/10.1186/1866-1955-6-18 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

La navigation spatiale chez les personnes avec un syndrome de Williams / Yannick COURBOIS in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 160 (Juin 2019)

Public ISBD [article]  inApproche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 160 (Juin 2019) . - p.351-357 Titre : La navigation spatiale chez les personnes avec un syndrome de Williams Type de document : texte imprimé Auteurs : Yannick COURBOIS, Auteur ; Emily K. FARRAN, Auteur Article en page(s) : p.351-357 Langues : Français (fre) Mots-clés : Syndrome de Williams  Cognition visuo-spatiale  Wayfinding Index. décimale : PER Périodiques Résumé : Cet article porte sur la cognition spatiale des personnes avec un syndrome de Williams telle qu’elle est étudiée au travers de tâches qui mettent en jeu les déplacements dans l’espace. Nous présentons un système de classification de l’espace et rapportons ensuite les résultats d’expériences qui relèvent de l’espace extrapersonnel d’action. Ces expériences permettent de dresser un tableau relativement cohérent des capacités de navigation spatiale. Ces personnes utilisent les points de repère pour apprendre des itinéraires fixes, mais elles rencontrent des difficultés dans le codage allocentré et la connaissance de la configuration des lieux. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] La navigation spatiale chez les personnes avec un syndrome de Williams [texte imprimé] / Yannick COURBOIS, Auteur ; Emily K. FARRAN, Auteur . - p.351-357. Langues : Français (fre) in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 160 (Juin 2019) . - p.351-357 Mots-clés : Syndrome de Williams  Cognition visuo-spatiale  Wayfinding Index. décimale : PER Périodiques Résumé : Cet article porte sur la cognition spatiale des personnes avec un syndrome de Williams telle qu’elle est étudiée au travers de tâches qui mettent en jeu les déplacements dans l’espace. Nous présentons un système de classification de l’espace et rapportons ensuite les résultats d’expériences qui relèvent de l’espace extrapersonnel d’action. Ces expériences permettent de dresser un tableau relativement cohérent des capacités de navigation spatiale. Ces personnes utilisent les points de repère pour apprendre des itinéraires fixes, mais elles rencontrent des difficultés dans le codage allocentré et la connaissance de la configuration des lieux. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Perceptual grouping abilities in individuals with autism spectrum disorder; exploring patterns of ability in relation to grouping type and levels of development / Emily K. FARRAN in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.283-292 Titre : Perceptual grouping abilities in individuals with autism spectrum disorder; exploring patterns of ability in relation to grouping type and levels of development Type de document : texte imprimé Auteurs : Emily K. FARRAN, Auteur ; Mark BROSNAN, Auteur Année de publication : 2011 Article en page(s) : p.283-292 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study further investigates findings of impairment in Gestalt, but not global processing in Autism Spectrum Disorder (ASD) [Brosnan, Scott, Fox, & Pye, 2004]. Nineteen males with ASD and nineteen typically developing (TD) males matched by nonverbal ability, took part in five Gestalt perceptual grouping tasks. Results showed that performance differed according to grouping type. The ASD group showed typical performance for grouping by proximity and by alignment, impairment on low difficulty trials for orientation and luminance similarity, and general impairment for grouping by shape similarity. Group differences were also observed developmentally; for the ASD group, with the exception of grouping by shape similarity, perceptual grouping performance was poorer at lower than higher levels of nonverbal ability. In contrast, no developmental progression was observed in the TD controls. En ligne : http://dx.doi.org/10.1002/aur.202 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] Perceptual grouping abilities in individuals with autism spectrum disorder; exploring patterns of ability in relation to grouping type and levels of development [texte imprimé] / Emily K. FARRAN, Auteur ; Mark BROSNAN, Auteur . - 2011 . - p.283-292. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.283-292 Index. décimale : PER Périodiques Résumé : This study further investigates findings of impairment in Gestalt, but not global processing in Autism Spectrum Disorder (ASD) [Brosnan, Scott, Fox, & Pye, 2004]. Nineteen males with ASD and nineteen typically developing (TD) males matched by nonverbal ability, took part in five Gestalt perceptual grouping tasks. Results showed that performance differed according to grouping type. The ASD group showed typical performance for grouping by proximity and by alignment, impairment on low difficulty trials for orientation and luminance similarity, and general impairment for grouping by shape similarity. Group differences were also observed developmentally; for the ASD group, with the exception of grouping by shape similarity, perceptual grouping performance was poorer at lower than higher levels of nonverbal ability. In contrast, no developmental progression was observed in the TD controls. En ligne : http://dx.doi.org/10.1002/aur.202 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments / Emily K. FARRAN in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.37 Titre : Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments Type de document : texte imprimé Auteurs : Emily K. FARRAN, Auteur ; Harry R.M. PURSER, Auteur ; Yannick COURBOIS, Auteur ; M. BALLE, Auteur ; Pascal SOCKEEL, Auteur ; Daniel MELLIER, Auteur ; Mark BLADES, Auteur Article en page(s) : p.37 Langues : Anglais (eng) Mots-clés : Development  Down syndrome  Navigation  Spatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down syndrome (DS) and individuals with Williams syndrome (WS) have poor navigation skills, which impact their potential to become independent. Two aspects of navigation were investigated in these groups, using virtual environments (VE): route knowledge (the ability to learn the way from A to B by following a fixed sequence of turns) and configural knowledge (knowledge of the spatial relationships between places within an environment). METHODS: Typically developing (TD) children aged 5 to 11 years (N = 93), individuals with DS (N = 29) and individuals with WS (N = 20) were presented with a sparse and a rich VE grid maze. Within each maze, participants were asked to learn a route from A to B and a route from A to C before being asked to find a novel shortcut from B to C. RESULTS: Performance was broadly similar across sparse and rich mazes. The majority of participants were able to learn novel routes, with poorest performance in the DS group, but the ability to find a shortcut, our measure of configural knowledge, was limited for all three groups. That is, 59 % TD participants successfully found a shortcut, compared to 10 % participants with DS and 35 % participants with WS. Differences in the underlying mechanisms associated with route knowledge and configural knowledge and in the developmental trajectories of performance across groups were observed. Only the TD participants walked a shorter distance in the last shortcut trial compared to the first, indicative of increased configural knowledge across trials. The DS group often used an alternative strategy to get from B to C, summing the two taught routes together. CONCLUSIONS: Our findings demonstrate impaired configural knowledge in DS and in WS, with the strongest deficit in DS. This suggests that these groups rely on a rigid route knowledge based method for navigating and as a result are likely to get lost easily. Route knowledge was also impaired in both DS and WS groups and was related to different underlying processes across all three groups. These are discussed with reference to limitations in attention and/or visuo-spatial processing in the atypical groups. En ligne : http://dx.doi.org/10.1186/s11689-015-9133-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments [texte imprimé] / Emily K. FARRAN, Auteur ; Harry R.M. PURSER, Auteur ; Yannick COURBOIS, Auteur ; M. BALLE, Auteur ; Pascal SOCKEEL, Auteur ; Daniel MELLIER, Auteur ; Mark BLADES, Auteur . - p.37. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.37 Mots-clés : Development  Down syndrome  Navigation  Spatial cognition  Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down syndrome (DS) and individuals with Williams syndrome (WS) have poor navigation skills, which impact their potential to become independent. Two aspects of navigation were investigated in these groups, using virtual environments (VE): route knowledge (the ability to learn the way from A to B by following a fixed sequence of turns) and configural knowledge (knowledge of the spatial relationships between places within an environment). METHODS: Typically developing (TD) children aged 5 to 11 years (N = 93), individuals with DS (N = 29) and individuals with WS (N = 20) were presented with a sparse and a rich VE grid maze. Within each maze, participants were asked to learn a route from A to B and a route from A to C before being asked to find a novel shortcut from B to C. RESULTS: Performance was broadly similar across sparse and rich mazes. The majority of participants were able to learn novel routes, with poorest performance in the DS group, but the ability to find a shortcut, our measure of configural knowledge, was limited for all three groups. That is, 59 % TD participants successfully found a shortcut, compared to 10 % participants with DS and 35 % participants with WS. Differences in the underlying mechanisms associated with route knowledge and configural knowledge and in the developmental trajectories of performance across groups were observed. Only the TD participants walked a shorter distance in the last shortcut trial compared to the first, indicative of increased configural knowledge across trials. The DS group often used an alternative strategy to get from B to C, summing the two taught routes together. CONCLUSIONS: Our findings demonstrate impaired configural knowledge in DS and in WS, with the strongest deficit in DS. This suggests that these groups rely on a rigid route knowledge based method for navigating and as a result are likely to get lost easily. Route knowledge was also impaired in both DS and WS groups and was related to different underlying processes across all three groups. These are discussed with reference to limitations in attention and/or visuo-spatial processing in the atypical groups. En ligne : http://dx.doi.org/10.1186/s11689-015-9133-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Visual search for basic emotional expressions in autism; impaired processing of anger, fear and sadness, but a typical happy face advantage / Emily K. FARRAN in Research in Autism Spectrum Disorders, 5-1 (January-March 2011)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 5-1 (January-March 2011) . - p.455-462 Titre : Visual search for basic emotional expressions in autism; impaired processing of anger, fear and sadness, but a typical happy face advantage Type de document : texte imprimé Auteurs : Emily K. FARRAN, Auteur ; Amanda BRANSON, Auteur ; Ben J. KING, Auteur Année de publication : 2011 Article en page(s) : p.455-462 Langues : Anglais (eng) Mots-clés : Autism Emotion Visual-search Face-processing Index. décimale : PER Périodiques Résumé : Facial expression recognition was investigated in 20 males with high functioning autism (HFA) or Asperger syndrome (AS), compared to typically developing individuals matched for chronological age (TD CA group) and verbal and non-verbal ability (TD V/NV group). This was the first study to employ a visual search, “face in the crowd” paradigm with a HFA/AS group, which explored responses to numerous facial expressions using real-face stimuli. Results showed slower response times for processing fear, anger and sad expressions in the HFA/AS group, relative to the TD CA group, but not the TD V/NV group. Reponses to happy, disgust and surprise expressions showed no group differences. Results are discussed with reference to the amygdala theory of autism. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.06.009 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111 [article] Visual search for basic emotional expressions in autism; impaired processing of anger, fear and sadness, but a typical happy face advantage [texte imprimé] / Emily K. FARRAN, Auteur ; Amanda BRANSON, Auteur ; Ben J. KING, Auteur . - 2011 . - p.455-462. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 5-1 (January-March 2011) . - p.455-462 Mots-clés : Autism Emotion Visual-search Face-processing Index. décimale : PER Périodiques Résumé : Facial expression recognition was investigated in 20 males with high functioning autism (HFA) or Asperger syndrome (AS), compared to typically developing individuals matched for chronological age (TD CA group) and verbal and non-verbal ability (TD V/NV group). This was the first study to employ a visual search, “face in the crowd” paradigm with a HFA/AS group, which explored responses to numerous facial expressions using real-face stimuli. Results showed slower response times for processing fear, anger and sad expressions in the HFA/AS group, relative to the TD CA group, but not the TD V/NV group. Reponses to happy, disgust and surprise expressions showed no group differences. Results are discussed with reference to the amygdala theory of autism. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.06.009 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111

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